genewatch vol. 22 no. 2

IN THIS ISSUE • GINA - What It Does, How It Came About JEREMY GRUBER 4 •Interview With U.S. Rep. Louise Slaughter 7 • GINA’s Limitations MARK ROTHSTEIN 9• The Avarys vs. Burlington Northern’s DNA Tests SAM ANDERSON 11 • GeneticDiscrimination in Australia KRISTINE BARLOW-STEWART 15 • Book Review: ExperimentalMan STUART A. NEWMAN 18 • Challenging Genetic Determinism RICHARD LEWONTIN 20

VOLUME 22 NUMBER 2 APRIL - MAY 2009

THE MAGAZINE OF THE COUNCIL FOR RESPONSIBLE GENETICS • ADVANCING THE PUBLIC INTEREST IN BIOTECHNOLOGY SINCE 1983

The Genetic Information Nondiscrimination Act (GINA) has exist-ed in some form or another since similar bills were introduced in 1995.Genetic privacy and discrimination were hardly top-shelf issues at thetime – but that changed at the beginning of the next decade, thanks to themapping of the human genome and the revelation, sparked by coverage ofBurlington Northern Santa Fe Railroad Company’s secret employee DNAtesting program, that genetic discrimination was already taking place.

Political support piled up for federal nondiscrimination legisla-tion, but lobbying pressure from pro-business groups, including theChamber of Commerce, stalled it in committee under Republican leader-ship. The political tides shifted in the 2006 midterm election, allowingGINA to come to a vote. As the legislation’s longstanding champion, Rep.Louise Slaughter, D-N.Y., says: “We always knew it would pass.” And it did,with ease – 95-0 in the Senate and 414-1 in the House. President Bushsigned GINA into law in May 2008, and on May 21 of this year it went into effect.

Not all business groups were against the bill. As consumer genet-ic testing companies began to gain credibility – and financial backing –their customer base was limited by many consumers’ fears that theirgenetic information would fall into the wrong hands. With an individual’sDNA profile in hand, insurance companies might hike premiums or denycoverage; employers might adjust hiring and promotion decisions orreject worker’s compensation claims; and the information could haveimplications not just for the individual, but for family members as well.GINA provided a way to ease consumers’ reservations about buying genetic tests.

Many of GINA’s backers see the law’s purpose in a similar way: inorder to usher in an era of personalized medicine, people must be willingto get genetic diagnostic tests and to submit their genetic information forresearch; in order to ensure that willingness, legislation is needed to easefears about misuse of genetic information.

However, emphasizing GINA as primarily a way of reassuring peo-ple not to worry about genetic discrimination and privacy issues under-mines its original purpose: to actually protect individuals against geneticdiscrimination – a cause which has been advanced, but not resolved, bythe adoption of GINA. We should be wary, then, of the interpretation putforward by Dr. Francis Collins, who remarked after GINA’s passage: “Ithink the American public can breathe a sigh of relief that the fear ofgenetic discrimination, which has basically been a cloud over our future,has been dealt with.”1

Which are we more concerned about: “the fear of genetic discrim-ination” or genetic discrimination itself? Perhaps more importantly,should we really declare that the issue “has been dealt with”? Yes, GINAshould be lauded as a landmark civil rights law; yes, it does create crucialprotections against misuse of genetic information in health insuranceand employment settings; but GINA’s passage does not render the issue ofgenetic discrimination ‘solved.’ The law’s protections must be carried outin its implementation, and everyone affected – in other words, everyone –needs to be educated on how the law works. GINA does not cover discrim-ination in life insurance, disability insurance, or numerous other areas ofconcern; regulation of consumer genetic testing companies is still

2 GENEWATCH APRIL - MAY 2009

Editorial Sam AndersonGENEWATCH

GENEWATCH is published by the Council for ResponsibleGenetics (CRG), a national, nonprofit, tax-exemptorganization. Founded in 1983, CRG’s mission is to fos-ter public debate on the social, ethical, and environ-mental implications of new genetic technologies. Theviews expressed herein do not necessarily represent theviews of the staff or the CRG Board of Directors.

ADDRESS 5 Upland Road, Suite 3 Cambridge, MA02140 PHONE 617.868.0870 FAX 617.491.5344NET www.councilforresponsiblegenetics.org

BOARD OF DIRECTORS

SHELDON KRIMSKY, PhD, Board Chair Tufts University

TANIA SIMONCELLI, Vice ChairScience Advisor,ACLU

PETER SHORETT, MPP Treasurer

GEORGE ANNAS, JD, MPHBoston University

EVAN BALABAN, PhDMcGill University

PAUL BILLINGS, MD, PhD,University of California, Berkeley

SUJATHA BYRAVAN, PhD

RAYNA RAPP, PhDNew York University

LOLA VOLLEN, MD, MPHUniversity of California, Berkeley

STAFF

Jeremy Gruber, President and Executive DirectorSheila Sinclair, Manager of OperationsSam Anderson, Editor of GeneWatch

EDITORIAL COMMITTEE

Ruth Hubbard Sheldon Krimsky

EDITOR & DESIGNER

Sam Anderson

APRIL - MAY 2009 VOLUME 22 NUMBER 2

Unless otherwise noted, all material in this publication is protected by copyright bythe Council for Responsible Genetics. All rights reserved. GeneWatch 22, 2

0740-973

COVER ART

Peter BarilContinued on page 8

VOLUME 22 NUMBER 2 GENEWATCH 3

Welcome from the President

I am thrilled to be joining the Council for Responsible Genetics at a time of such rapid changes in genetic sci-ence. Now, more than ever, there is the need for a strong, independent watchdog. I am absolutely dedicated tobuilding upon the strong tradition of CRG as the only biotech public interest organization that is explicitly dedi-cated to examining the best science, interpreting the results, assessing the implications, and communicatingthem to a general audience.

GeneWatch will play a crucial role in that process. For 26 years GeneWatch has critically examined biotechnol-ogy’s social, ethical and environmental consequences by covering a broad spectrum of issues; from geneticallyengineered foods to biological weapons, genetic privacy and discrimination, reproductive technologies, andhuman cloning. I am committed to building the circulation of GeneWatch by adding new content and continuingthe strong scholarship that has come to define it.

Just a little about myself. I am a civil rights attorney and began my career at the national office of the AmericanCivil Liberties Union. I left the ACLU to co-found and become the legal director of a new organization dedicatedto the rights of working men and women called the National Workrights Institute. I have dedicated my career toworking on issues related to privacy and discrimination and spent many years and much blood, sweat and tearsworking on the Genetic Information Non-Discrimination Act (GINA) and state genetic discrimination laws.

This current issue of GeneWatch, dedicated to GINA, is close to my heart. I hope you enjoy it, and please let usknow your thoughts. You can contact us through our brand new website, which I encourage you to visit, atwww.councilforresponsiblegenetics.org.

Sincerely,Jeremy GruberPresidentCouncil for Responsible Genetics

GINA: How It Came to Pass and What It DoesJEREMY GRUBER

Politics and PerserveranceWITH REP. LOUISE SLAUGHTER

GINA’s Beauty Is Only Skin DeepMARK A. ROTHSTEIN

When Science Fiction Became FactSAM ANDERSON

Genetic Discrimination: Australian Experiences and PoliciesKRISTINE BARLOW-STEWART

Book Review: Experimental ManSTUART A. NEWMAN

Where Are The Genes?RICHARD LEWONTIN

Endnotes

4

7

Contents

9

11

15

18

20

22

Just last year, the GeneticInformation Nondiscrimination Act(GINA), hailed by Senator Kennedy as“the first civil rights bill of the newcentury,” was signed into law. I hadthe privilege of working on GINAfrom the very beginning. BeforeGINA, it had been almost twenty yearssince Congress had passed civilrights legislation.1 Indeed, GINA pro-vides a promising departure frompast civil rights laws which werepassed to correct historic injusticesthat had festered within Americansociety for generations. Perhaps themost obvious example is the CivilRights Act of 1964, which protectsagainst discrimination based on raceand gender, among other categories,and which was one of the crowningachievements of the American CivilRights Movement. GINA representsthe first time that Congress haspassed such legislation before thediscrimination it is meant to addresshas become seemingly permanentlyingrained in the country’s social fab-ric, and in that respect I think weshould all be proud.

GINA: A HistoryThe story of how GINA came to be

enacted is a classic lesson inAmerican politics and perseverance.By 1995 the need for federal geneticdiscrimination legislation wasbecoming increasingly clear. Earlyreports from the Congressional Officeof Technology Assessment identifiedthe potential for the misuse of genet-ic information for purposes of dis-crimination.2 This was followed by anumber of documented cases ofgenetic discrimination and severalcase studies which supported thecredibility of many of the claims, suchas those completed by CRG Board

member Paul Billings.3 At the sametime, the Human Genome Project, oneof the largest scientific research proj-ects ever undertaken, was racingtowards its goal of producing a refer-ence sequence of the human genome.A working group associated with theProject that included CRG Boardmember George Annas4 announcedmodel genetic discrimination legisla-tion that same year. A number ofstates were already enacting legisla-tion in this area; more than 15 stateshad enacted protections by 1995 andmany were soon to follow.5 Many ofthese state laws are deficient, howev-er, due either to limited coverage or toinsufficient enforcement mecha-nisms. Many states never passed com-prehensive genetic discriminationlegislation.

In 1996 Congress passed the HealthInsurance Portability and Accountabil-ity Act (HIPAA) which, among otherthings, prohibited the use of geneticinformation in certain group health-insurance eligibility decisions. Newlegislation was necessary to plug theholes in health insurance protectionsthat HIPAA left behind and extend pro-tections to other potential areas of dis-crimination that HIPAA wasn’tdesigned to cover.

A number of individuals, myselfincluded, began to raise a chorus ofconcern on Capitol Hill over the lackof legal protections against geneticdiscrimination and various mediaoutlets began to echo them. Geneticnondiscrimination legislation wasfirst introduced in the House ofRepresentatives in late 1995 by Rep.Louise Slaughter, D-N.Y., during the104th Congress. CongresswomanSlaughter would go on to become theprimary champion of genetic discrim-ination legislation on Capitol Hill

through GINA’s passage. In 1996,Senator Olympia Snowe, R-Maine, andSenator Ted Kennedy, D-Mass., intro-duced similar legislation in theSenate. Both bills specificallyaddressed discrimination in healthinsurance. Employment discrimina-tion was not covered in this early leg-islation, and for some in Congress,such as Senator Jim Jeffords, R-Vt., itwas unclear whether employment pro-tections were necessary. Opponents ofthe legislation claimed that geneticdiscrimination in employment wasalready covered by the Americans withDisabilities Act (ADA), one section ofwhich allows for a discriminationclaim when an individual is regardedas disabled and discriminated againstas a result. The EEOC further compli-cated the situation by early on sup-porting this interpretation of theADA.6 As the ADA made its rounds ofcourt decisions, though, it becameclear that the courts were if anythingtaking a very limited view of theexpansiveness of the ADA, and inmost cases it would be highly unlikelyto be available to support a geneticdiscrimination claim.7 There certain-ly was no dispute that the ADA offeredlimited protections against the collec-tion of genetic information. I, and oth-ers, continued to build the case that

GINA: How It Came toPass and What It Does

BY JEREMY GRUBER, J.D.


employment discrimination provi-sions were necessary. With our per-suasion, Senator Jeffords held aCongressional hearing on genetic dis-crimination in the workplace8 andthe argument eventually succeeded.Employment provisions were addedshortly after to the legislation thatwould later become GINA.

GINA suffered in obscurity for anumber of years as the result of aRepublican-led Congress that washostile to adding additional restric-tions on the insurance industry andemployer communities. Powerful lob-bies, such as the Chamber ofCommerce, also ensured this to be thecase. Despite this adversity, momen-tum continued to build. In 1997, theAmerican Civil Liberties Union andorganizations such as the Alpha-1Association, Genetic Alliance,Hadassah, National Partnership forWomen & Families and NationalSociety of Genetic Counselors, recog-nized the need to unite and create anequally powerful organization tofight for genetic discrimination pro-tections. Representing the ACLU, Ijoined representatives from theseorganizations in founding theCoalition for Genetic Fairness (CGF)that same year. The CGF would con-sist of over 500 organizations by thetime GINA was enacted.

From that day forward, the CGFbecame the leader of a coordinatedcampaign to enact genetic nondis-crimination legislation. We targetedthe White House and members of theSenate and House of Representativesone by one and began to build supportwithin Congress for genetic nondis-crimination legislation. These effortsbegan to bear fruit in 2000, whenthen President Clinton signed anExecutive Order extending geneticdiscrimination in employment pro-tections to Federal employees.9

Following this breakthrough theSenate passed genetic discriminationlegislation in 2003 and 2005. TheHouse of Representatives, though, isa body more strictly controlled bymajority leadership. These same

years, despite growing support in theHouse (In 2003 and 2005 GINA hadthe support of 242 and 244 co-spon-sors respectively) genetic discrimina-tion legislation failed to reach thefloor of the House for a vote. Supportamong House Republicans for thislegislation was beginning to grow,though, largely as the result of theCGF working with Rep. Judy Biggert,R-Ill., to become a primary co-sponsorof the legislation. It was also duringthis time period that the CGF releaseda highly influential report on theissue of genetic discrimination.10

With more bipartisan teams inplace in both the House and Senate,GINA was reintroduced in 2007. Achange in party leadership in theHouse gave many of us hope thatthere would be a major breakthroughon GINA. Its fate in the Houseremained precarious, though, as

three separate committees11 main-tained jurisdiction and thereforemany opportunities for roadblocksexisted. To overcome them, many ofus worked tirelessly during this peri-od to educate members of the appro-priate House committees. Finally, theHouse passed GINA for the first timeon April 25, 2007. Having passed thelegislation twice before, most expect-ed GINA to pass the Senate soonthereafter. But one last hurdleremained. Senator Tom Coburn, R-Okla., put a hold12 on the legislationin the Senate, preventing it from com-ing to the floor for a vote. Coburn’sSenate voting record is extremelyconservative and he has a welldeserved reputation for stallingmeasures in the Senate, to the frus-tration of members of both major par-ties. Coburn’s given objection to GINA

was an alleged lack of clarity on pro-tections for embryos and fetuses,although most experts did not believethis to be a legitimate concern and hishold lasted long after this issue wasspecifically addressed in the legisla-tion. Support from the White Houseallowed Senator Coburn to becomeintransigent despite the administra-tion having earlier issued aStatement of Administration Policyin support of GINA.13

The groundswell of support forGINA nonetheless continued tomount and the CGF put significantpressure on Senator Coburn to relent.In early 2008, Senator Coburnreleased his hold and on April 24,2008 the U.S. Senate passed GINA.Finally on May 21, 2008 PresidentBush signed GINA into law.

What does GINA do?GINA provides protections against

genetic discrimination in both thehealth insurance and employmentsettings and puts additional limita-tions on the access to and disclosureof genetic information.

A discussion of GINA necessarilyrequires that we first take a look atthe type of genetic information thatGINA is meant to protect. Generally, aperson’s genetic information isdefined as information obtained fromthe individual’s genetic tests, theindividual’s family member’s genetictest, or the individual’s family healthhistory. A genetic test as defined bythe statute is a process that analyzeshuman DNA, RNA, chromosomes, pro-teins, or metabolites, and that detectsgenotypes, mutations, or chromoso-mal changes. If the test does notdetect genotypes, mutations, or chro-mosomal changes, or if the analysisdirectly relates to a health conditionthat could be reasonably detectedwithout such a test, it is not consid-ered a genetic test under GINA. Thedefinition of genetic informationincludes “the occurrence of a diseaseor disorder in family members of theindividual” because family medicalhistory could be used to identify

“GINA had the sup-port of 244 co-spon-

sors ... [but] failed toreach the floor of the

House for a vote.”

GENEWATCH 5VOLUME 22 NUMBER 2

genetic information. GINA applies toasymptomatic individuals only.Manifested health conditions are notprotected, even if they have geneticorigins. The underlying genetic infor-mation, though, remains protected byGINA.

Title I of GINA deals with geneticnondiscrimination in the issuance ofhealth insurance. Health insurancecompanies (including those that sellgroup policies to employers, non-group policies to individuals and fam-ilies, and Medicare supplementalpolicies to Medicare enrollees) arenot allowed to determine eligibility(including continued eligibility) forcoverage based on genetic informa-tion, charge higher or lower premi-ums based on genetic information, orconsider genetic information as a pre-existing condition.

In addition, health insurers areprohibited from asking about geneticinformation as part of the applica-tion process. Once a person is cov-ered, insurers may not ask about oruse that person’s genetic informationfor “underwriting purposes” – forexample, to determine whether toraise premiums when an individualrenews his or her coverage. In thisTitle GINA builds on the HealthInsurance Portability andAccountability Act, extending protec-tions to the individual market to con-firm that individuals in all types ofhealth insurance plans have the sameprotections. But it goes even furtherthan HIPAA in another importantrespect with regards to privacy ofgenetic information. One of the pri-mary tenets of HIPAA is that there issome privacy to your health informa-tion, but to the extent that yourhealth insurer needs that informa-tion for underwriting, they couldhave it, as underwriting is a permit-ted use of health information underHIPAA. This was not a genetics-spe-cific issue. While the HIPAA ruleremains in place for most healthinformation, GINA prohibits healthinsurers from collecting or usingyour genetic health information for

underwriting. Title II of GINA deals with genetic

discrimination in the employmentcontext. GINA makes it an unlawfulemployment practice for an employer(applying equally to an employmentagency, labor organization or jointlabor-management committee con-trolling job training) to “fail or refuseto hire…discharge…or otherwise todiscriminate against any employeewith respect to the compensation,terms, conditions, or privileges ofemployment” because of the geneticinformation of the employee. In thisrespect GINA adds genetic informa-tion as a protected category to theexisting body of federal civil rightslaw.

GINA makes it an unlawful practicefor an employer to “request, requireor purchase genetic information withrespect to an employee or familymember of an employee.” Subject tothe exceptions I will discuss below,this is a total ban that will affect anemployer’s ability to access suchinformation even under circum-stances where it was previouslyauthorized under other statutes.GINA prohibits employers fromrequesting genetic information evenin the rare case where it is arguablyjob related (though examples to dateof such have been extremely difficultto demonstrate). In terms of theAmericans with Disabilities Act, thisposes a change in how employers col-lect medical information, at least interms of genetic information. Underthe ADA employers are authorized tocollect medical information relevantto meeting a reasonable accommoda-tion request or otherwise authorizedas part of a post conditional offer ofemployment medical evaluation.Additionally, worker’s compensationlaws would similarly be implicated.

GINA lays out specific exceptions tothe prohibition on acquisition ofgenetic information:

1) Where an employer “inadvertentlyrequests or requires family medicalhistory of the employee or family

member of the employee.” Whilethe chosen terms are somewhatunartful, it is clear from the intentof this exception and the legislativehistory of it that it is meant toaddress so called “water-cooler con-versations” where an employeemight voluntarily offer such infor-mation up to the employer.

2) A second exception applies to situa-tions where an employer offershealth or genetic services includinga wellness program. Many employ-ers have adopted wellness pro-grams which begin with extensivehealth questionnaires. In such situ-ations the statute requires the vol-untary consent of the employee andlimits access of the informationobtained.

3) The third exception applies to thegenetic monitoring of the biologicaleffects of toxic substances. Someemployers have programs whichconduct genetic tests of workers inspecific hazardous environments todetermine if they need to be reas-signed before they become sympto-matic of adverse exposure. GINAnow requires this testing to be voluntary.

4) Additional exceptions include fed-eral or state Family and MedicalLeave Act compliance, commercial-ly and publicly available records(but not medical databases andcourt records) and law enforcementpurposes.

GINA requires that genetic informa-tion be kept as part of the employeeconfidential medical record and pro-hibits the disclosure of genetic infor-mation unless:

1) There is a written request of anemployee for such information (or afamily member if the family mem-ber is receiving a genetic service).

2) To a health researcher in compli-ance with applicable law.

3) In response to a court order, butonly if the genetic information isspecifically authorized and only

Continued on page 14


ple in better shape medically, butwe’re also going to save a lot ofmoney.

One concern about GINA is that partof what it does is reassure people toget genetic tests.

Well, everybody doesn’t have to dothat - we’re by no means encourag-ing everybody to run out and get agenetic test.

In terms of public awareness ofgenetic discrimination issues ingeneral ... a lot of people, when I talkto them about this -

They don’t even think about it.

They don’t think about it at all. Doyou think that’s changed?

No, I’m not sure it has. It’s there, it’sa tool for science, it’s criticallyimportant. But personally, nobodycomes up to me to say, “thank youfor making it so that I can get agenetic test.”

I take great pride in the fact thatwe have done this, and I know thatit’s critically important. I think Sen.Kennedy said it’s the first civilrights bill of the century, andFrancis Collins said it’s the equiva-

GeneWatch: If any legislator can becalled a champion of GINA, it wouldhave to be you. You’ve pushed forgenetic nondiscrimination legisla-tion for seven sessions – why didyou stick with it for so long?

Rep. Slaughter: Because of theimportance of it. We had an opportu-nity, when they first announced thatthey were going to decode thegenome, to have science and politi-cal policy go hand in hand.Obviously we recognized how mar-velous the science could be, but wealso recognized that there were pit-falls there for people who werealready being discriminated againstbecause of genes, and people wereterrified to know what their geneticmakeup was – people who hadAlzheimer’s in their family, a lot ofcancer in their family, women whothought they might have a gene forbreast cancer or were afraid to findout – and their doctors told them notto have a test until the bill passed.

It was a very strange odyssey. Itpassed the senate unanimouslytwice, but didn’t have a single hear-ing in the House of Representativesfor all those years, until NancyPelosi became speaker and GeorgeMiller became chair [of the HouseEducation and Labor Committee].Both of them struggled all theseyears, they were cosponsors of thebill, and I can’t praise George Millerenough for what he did to make itpossible to get this passed.

So is that the main reason it cameabout?

Politics. There’s no question aboutit. The National Association ofManufacturers, Small BusinessAssociation, Chamber of Commerce,and some drug companies were verymuch against it. Drug companies, I

think, because what they like to dofor research is rifle through medicalrecords and see who’s got the mostof what. And I don’t object to that,but I saw no reason for them toknow who this person was, wherethey lived or where they worked.

Did you ever hear a justification forwhy they would need to know thosedetails?

No, they never spoke to me. All thoseyears we had no real contact.

What sorts of justifications did youhear from other opponents?

They didn’t give us any. Well, theythought it would be a handicap foremployers, and that it would resultin tremendous numbers of lawsuits.But it took so long that a number ofstates had already passed legisla-tion – which isn’t good enough,because it shouldn’t be luck of thedraw, based on where you live,whether you’re going to be protectedor not.

What do you think are the nextpressing genetics issues?

There’s so much more happeningout there. There’s the epigenome,which we all need to understand bet-ter. But let me tell you the mostimportant thing that we’re going tofind from this debate, in my book.We ought to be able to do individual-ized health care – your genes willtell you what medicine will help you,individually. Dr. (Elias) Zerhouni,who was head of the NIH, told methat 80% of patients on Lipitor arenot benefitted by it. But that is thedrug of choice, so 20% benefit and itcosts an awful lot of money.Obviously, by doing specializedmedicine we can not only keep peo-

Politics and PerserveranceAn interview with U.S. Rep. Louise Slaughter, D-N.Y.


about the gene, the BRCA1 gene, ifthey hadn’t been so generous to letthemselves get tested for it. I know awoman here who had seven majoroperations because she had the geneand breast cancer, and I think she’sgoing to be one of our best advo-cates for young women to get tested.

But ultimately, getting GINA passedcame down to the politics.

Let me tell you right out top, it wasthe leadership change.

And I should say about PresidentBush, on his behalf – he said in hisState of the Union that he wanted tosign this bill. And he did sign thebill. It was the House leadership thatneeded to change, and if we had notchanged it, we would be in bad shape.

Rep. Louise Slaughter has servedwestern New York state in the U.S.House of Representatives since1987. She introduced some of thefirst federal genetic nondiscrimina-tion legislation in 1995. In 2006,Rep. Slaughter became Chair of theinfluential House Rules Committee.

unanimously twice.

Considering that it passed unani-mously in the Senate, and when itdid pass in the House there waswhat, one dissenting vote - it seemslike something everyone could getbehind.

We always knew it would pass. Thechairs of the committee just would-n’t let it out because of the groupswho were opposed to it. So it neverhad a hearing here until GeorgeMiller was the chair.

What about the lobbying on theother side?

They were mostly groups, individu-alized groups. Hadassah worked sohard and they were so generous. Wewould have never known so much

lent of splitting the atom. So I’mperfectly aware of the importance ofit, but I don’t have much reason tobelieve that the public knows orcares what we’ve done here.

It seems that it’s pretty difficult forthe average person to notice whenthey’re being discriminatedagainst, or to avoid it – to know tothink twice about that blood test.

I think the day will come when ifyou’re going to be treated for highblood pressure or arthritis, that wewould be able to, because of yourgenetic makeup, have the specificmedicine to help you. But again,when the genome first came out, wewere very much concerned that theywere going to sell the information orit would fall into private hands. Thatwould not be a good thing. And ifyou’re alluding to the testing that’spopping up all over the place, I thinkit needs to be regulated. It is reallyan opportunity, I think, for a lot ofscams.

Is there much political interest inregulating consumer genetic tests?

Well, I think we’re going to do it.Whether there’s political interest ornot, I think we can get it done. Whenit comes to any kind of regulation,they get skittish around here … butit’s coming.

I remember trying to get this billpassed early, talking about breastcancer, and Collins was saying ‘wedon’t want to micromanage medi-cine.’ I think they felt that breastcancer was a women’s disease. Andthey felt that it was really a sadthing. But I didn’t get much indica-tion from a lot of them that it wasanything they were really concernedabout.

So I think it was really all the out-side groups. Your group, Hadassah,all the others – we had enough out-side support to represent at leasthalf the population of the country.And the Senate, as I said, passed it

“Nobody comes up tome to say ‘thank you

for making it so that Ican get a genetic

test.’”

Continued from page 2

Editorial

lacking; and some of the protections included in GINA can be furtherstrengthened.

GINA’s passage is certainly cause for celebration, but it also represents agreat opportunity for further action. For this reason, we must be careful notto laud GINA as the comprehensive solution for the misuse of genetic infor-mation. After more than 15 years, genetic privacy and discrimination issueshave gained considerable momentum, but there is more to be done – and noth-ing kills momentum like complacence. GINA is an undeniably important andhistorical civil rights achievement, but we should recognize it as a startingpoint rather than a destination.


take advantage of genetic testing,technologies, research, and new ther-apies.” The phrase “fully protect thepublic” is a curious choice of word-ing. GINA did extend protectionagainst genetic discrimination to thefew states that had not previouslyenacted a law prohibiting genetic dis-crimination in health insurance orthe one-third of the states without alaw banning genetic discriminationin employment. Yet, the method ofprotection, similar to state approach-es, is not fully protective in any way.Therefore, it would be more accurateto say that GINA “fully covers” thepublic; it certainly does not provide“full protection.”

There are three major flaws withGINA. First, it applies only to twoaspects of the problem, discrimina-tion in health insurance and employ-ment. To allay public concerns about

It is hard to be critical of theGenetic Information NondiscriminationAct of 2008 (GINA). After all, it’s thefirst federal law enacted to prohibitgenetic discrimination, and passingit took 13 years of work by peoplewhose goals I share. In analyzing thelaw, however, it is apparent that GINAfails to resolve or even address manyof the basic concerns that drove thelegislative effort. It is also clear why,despite 13 years of wrangling onCapitol Hill, the final version of GINAwas passed unanimously in theSenate and received only one nega-tive vote in the Houses ofRepresentatives – and that frominveterate naysayer, RepresentativeRon Paul.

GINA was not enacted in responseto a wave of genetic discrimination,defined as the adverse treatment ofan individual based on genotype.There have been very few document-ed cases of such discrimination. Tosome degree, GINA was enacted toprevent genetic discrimination in thefuture when health records will rou-tinely contain genetic informationand genetic testing will be so inex-pensive that it’s cost-effective to per-form it on a widespread basis. Thereal reason for enacting GINA was toassure people that they could under-go genetic testing without fear ofgenetic discrimination. As any clini-cal geneticist or genetic counselorwill tell you, these fears are real.

According to section 2(5) of GINA,federal legislation “is necessary tofully protect the public from discrim-ination and allay their concernsabout the potential for discrimina-tion, thereby allowing individuals to

genetic discrimination, it’s neces-sary to prohibit the adverse treat-ment of individuals in numerous set-tings. GINA does nothing to prohibitdiscrimination in life insurance, dis-ability insurance, long-term careinsurance, mortgages, commercialtransactions, or any of the other pos-sible uses of genetic information. Itremains to be seen whether GINA’slimited applicability, coupled with itsinadequate protections in healthinsurance and employment, will beenough to reassure the public thatundergoing genetic testing will notendanger their economic security.

Second, GINA’s prohibition ongenetic discrimination in healthinsurance is largely a mirage. TheHealth Insurance Portability andAccountability Act (HIPAA) containsa little-known provision prohibitingemployer-sponsored group healthplans from denying individuals cov-erage, charging them higher rates, orvarying their coverage based on“genetic information.” Significantly,HIPAA prohibits discrimination bygroup health plans on the basis ofany health information. BecauseHIPAA prohibits genetic discrimina-tion for the largest source of privatehealth coverage (group plans), GINA’smain value is to cover people withindividual health insurance policiesin the few states that did not previ-ously enact a state genetic nondis-crimination law.

Unfortunately, the protectionsafforded individuals under eitherstate laws prohibiting genetic dis-crimination in health insurance orGINA are not particularly robust orvaluable. (Because state laws and

GINA’s Beauty Is Only Skin DeepThe law’s passage may have been a step forward, butit has significant flaws

BY MARK A. ROTHSTEIN, J.D.


broader and cannot be resolved bysuch a narrow focus. To state theobvious: Under any system of univer-sal access to health care, the issue ofgenetic discrimination in healthinsurance disappears.

Third, the employment provisions ofGINA are ineffective, but for differentreasons. As with health insurance, theemployment provisions only apply toindividuals who are asymptomatic.The Americans with Disabilities Act(ADA) covers individuals who havesubstantially limiting impairmentsand therefore the ADA would prohibitdiscrimination against symptomaticindividuals, regardless of the cause of

their condition.GINA makes it unlawful for an

employer to request, require, or pur-chase genetic information regardingan applicant or employee. This is animportant issue, because individualsare concerned with employers merelyhaving access to their genetic infor-mation. The problem is that the pro-vision is infeasible and therefore isnot being followed.

Under the ADA, after a conditionaloffer of employment, it is lawful foran employer to require individuals toundergo a preplacement medicalexamination and to sign an authori-zation releasing all of their medicalrecords to the employer. In effect,GINA now qualifies this by sayingthat employers can require therelease of all medical informationexcept genetic information. GINAdefines genetic information as thegenetic tests of the individual, genet-ic tests of the individual’s familymembers, and family health histo-ries. Because this information is

commonly interspersed in medicalrecords there is no practical way forthe custodians of the health records(e.g., physicians, hospitals) to sendonly non-genetic information. Inpractice, when presented with a lim-ited or unlimited request, the custo-dians usually send the entire records.

The development and adoption ofelectronic health records (EHRs) andnetworks hold the possibility of usinghealth information technology tolimit the scope of health informationdisclosed for any particular purpose.Unfortunately, there have been noefforts undertaken to design healthrecords with the capacity to segmentor sequester sensitive health informa-tion (including but not limited togenetic information) to facilitatemore targeted access or disclosures.Without such efforts, health privacywill decline precipitously with theshift to EHRs because recordsincreasingly will be comprehensive(i.e., containing information generat-ed by substantially all health careproviders) and longitudinal (i.e., con-taining information over an extendedperiod of time). Thus, when employersand other third parties require accessto an individual’s health records theamount of information they receivewill be much more extensive thanthey receive today.

GINA represents an incrementalapproach to problems that do notlend themselves to incrementalapproaches. Numerous entities haveeconomic interests in learning aboutan individual’s current or likelyfuture health. GINA consists ofhalfway measures limited to healthinsurance and employment that donot provide adequate assurances tothe public that genetic informationwill not be used to their detriment inother ways. GINA prohibits geneticdiscrimination in individual healthinsurance against people when theyare asymptomatic, but fails to pro-vide them with what they need most –health coverage when they are ill.GINA prohibits employers from

GINA are similar in substance, forsimplicity, I’ll merely refer to GINA.)The problem is that GINA onlyapplies to asymptomatic individuals.There are few incentives for healthinsurers to discriminate againstasymptomatic individuals and fewlaws to prohibit them from discriminating against symptomatic individuals.

An example will bring this problemmore clearly into focus. Under GINA,it is unlawful for an individual healthinsurance company to refuse offercoverage, charge higher rates, orexclude certain conditions on thebasis of genetic information, includ-ing the results of a genetic test. Forexample, it would be unlawful to denycoverage to a woman with a positivetest for one of the breast cancermutations. Now, suppose somemonths or years later, the womandevelops breast cancer. GINA simplydoes not apply. The insurance compa-ny’s permissible response woulddepend on state insurance law. In vir-tually every state, the health insur-ance company could lawfully react tothe changed health status of the indi-vidual by refusing to renew the policy(at its typically annual renewal date),increase the rates to reflect theincreased risk (and the rates mightdouble or triple), or renew the policybut exclude coverage for breast cancer.

GINA does have some limited valuein this scenario. Because of GINA, anat-risk woman is no worse off interms of insurability due to having agenetic test, and there might be psy-chological or medical benefits frombeing tested, depending on theresults. Yet, the overall picture interms of health policy remains bleak.So long as individual health insur-ance is medically underwritten at theinitial application and for renewals,individuals who are ill or more likelyto become ill are extremely vulnera-ble. Many advocates and policy mak-ers have concentrated on the issue ofgenetic discrimination in healthinsurance, but the issue is much

“GINA represents anincremental approach

to problems that donot lend themselves to

incrementalapproaches.”

Continued on page 12


In the summer of 2000, BurlingtonNorthern Santa Fe railroad Corp. wasdealing with two train derailments incentral Nebraska. Workers went outto make track repairs, equipped withrecently adopted hydraulic wrenches.The new tools were faster than theirmanual predecessors, but harder onworkers’ wrists: over a hundredBurlington Northern employees filedreports that year that their work hadcaused carpal tunnel syndrome. GaryAvary was one of the workers whorepaired the Nebraska tracks, and inSeptember he was diagnosed withcarpal tunnel. The railroad author-ized surgery, and by the end ofOctober, Gary had recovered from theoperation and returned to work withfull use of his hands – but his ordealwas just beginning.

In December the company sent Garya letter instructing him to travel toLincoln for a mandatory medicalexam. Gary and his wife, Janice, foundthis strange, since Gary’s carpal tun-nel had already been successfullytreated. Stranger yet, a co-workerreturning from the same exam report-ed that the doctor had taken sevenvials of blood. This raised a red flagfor Janice, a registered nurse, and shecalled the company’s medical liaisonto see why so much bloodwork wasnecessary.

“She gave me a list,” Janice says,“just standard lab tests, and I said,‘I’m in the medical field, and those donot require that many tubes of blood.’I got her flustered because I knewwhat I was talking about – and shejust let it slip accidentally that theywere going to do a genetic test.”

When Janice protested that thosetests could not be conducted withoutGary’s knowledge and consent, shewas told that refusal would be consid-

ered insubordination and could resultin dismissal.

The Avarys went on to fightBurlington Northern’s practices andto testify on Capitol Hill to advocatefor genetic nondiscrimination legis-lation. In 2001, Burlington Northernsettled with the Equal EmploymentOpportunity Commission (EEOC),prohibiting the railroad companyfrom carrying out further genetictesting. A settlement with the rail-road workers’ union required the com-pany to destroy the blood samples ithad acquired from at least 20 employ-

ees along with the records of the testscarried out on that blood. BurlingtonNorthern also pledged to support afederal genetic nondiscriminationbill. Those results were hardly crip-pling for the company, but for theirpart, the Avarys were most interestedin pushing for the legislation whichwould later become the GeneticInformation Nondiscrimination Act.Finally, seven years later, GINA wassigned into law.

“Everything’s changed,” Gary says.“I do feel that we made a difference –not just Janice and me, a lot of us.”

Janice agrees, even if BurlingtonNorthern got off easy in the lawsuits.“It was kind of bad the way it ended,but for me, we got the genetic testingstopped, the railroad was publiclyhumiliated for what they did, and as

you can see, we’re still talking aboutit eight years later.”

‘‘TThhee ggeennee ffoorr ccaarrppaall ttuunnnneell’’Why would a company go to lengths

to undertake secret genetic testing ofits employees? Burlington Northerninsisted that the DNA test resultswere never intended to factor into hir-ing and firing decisions. According tocompany statements, the testsfocused on determining whether ornot employees carried the geneticmarker for carpal tunnel syndrome. Ifso, the company might be able to shedresponsibility for employees’ carpaltunnel complaints – and avoid payingworkers compensation.

The first problem? Dr. PhillipChance, the scientist who discoveredthe gene the railroad was testing for,pointed out that the genetic markerin question has little use as a predic-tor of carpal tunnel injuries. In fact,the gene is not linked to carpal tunnelspecifically, but rather to a rare neu-romuscular condition for whichcarpal tunnel is one of several symp-toms. The railroad’s medical depart-ment was either oblivious to this orperhaps simply disagreed. Either way,the brains behind the secret genetictests seemed to believe they weredoing something exciting – and some-thing ethical.

“When Gary went for the initialinterview with the carpal tunnel doc-tor, the doctor started talking aboutgenetic implications for carpal tun-nel disease,” Janice says. “Now this iswhat that man does for a living,carpal tunnel surgery – and he wasgoing on and on and on with Garyabout how he was trying to getinvolved in different protocols toprove genetic backgrounds for carpaltunnel disease.”

When Science FictionBecame FactGary and Janice Avary exposed a secret DNA testing program

- and proved genetic discrimination wasn’t just hypothetical

BY SAM ANDERSON


Once the case was underway, Garymet personally with the chief med-ical examiner behind the railroad’stesting protocol. “I looked him rightin the eye and said, I understandwhat you were doing, Dr. Michaels,and you can run it in front of medicalpeople and they wouldn’t see anyproblem with what you were doing,with the legalities – that you have theright to ask a mandatory medicalexam any time you see fit. But any-one else would say, ‘You’re doingwhat? And you’re not telling thesepeople what you’re doing?’ And hecouldn’t really give me a good answerthere. He just thought, in his ownmind, I think, that he was doingeverything right. They’d been tothese conferences on genetics, andthey were bent on looking for thatmarker [for carpal tunnel].”

Considering the cost of puttingtogether a system for secretly testingemployees – and considering thatnone of the at least 20 employees test-ed were found to have the marker inquestion – it would hardly seem aneconomical program. Indeed, Janicesays the company had bigger plansfor the DNA testing scheme it referredto as a “pilot program.”

“They were in the process of design-ing a protocol to eliminate corpora-tions from having to be responsiblefor any injury on the job. If they hadbeen able to prove that back injuries,heart injuries, carpal tunnel, andother things along that line had agenetic background to them, they nolonger would have to take responsibil-ity for those payments. Then, had theybeen able to prove this, they wouldhave been able to patent the protocoland sell it to other large companies.”

KKeeeeppiinngg tthhee sseeccrreett“The entire system knew that there

was this network of deceit out there,”Janice says. “All of the people that hadgone to this testing because it wasmandatory had no idea that a genetictest was going to be included in thebloodwork. They were actually doinggenetic testing without people’s con-sent or knowledge.”

Behind the scenes, railroad officials

monitored a detailed DNA testing pro-gram.

“The day I didn’t go to the mandato-ry exam, the chief medical examinercalled me and said, ‘Sir, I see you did-n’t make your appointment. Why isthat?’” Gary says. “And I thought tomyself – how would you know soquickly, and why would you need toknow so quickly? Well, it turns outthey had couriers there to take theblood immediately to the lab. The doc-tors were just there to draw the blood,and couriers were there to pick up myblood after they drew it.”

Knowledge of the program extendedthroughout Burlington Northern’soffices. Janice says that the medicalliaison she first spoke with “knewexactly what was going on. She knewthere was genetic testing going on,she knew exactly which doctor

employees were to be referred to forthe testing, and the doctor they hadset up to do the testing in Lincolnknew exactly what was going on.

“You get sent to a doctor in Lincolnwho’s doing the testing, who knowsfull well you’re going to be geneticallytested; the medical liaison knew therewas a protocol; but none of theemployees knew. No one had evernotified the employees.” If the Avaryssound cynical about the company’sattitude, it’s for good reason. Duringthe lawsuit, the EEOC discovered doc-uments sent between employees inBurlington Northern’s offices reveal-ing their knowledge of the testingprogram, even referring to it as “theguinea pig trail.”

Burlington Northern’s employeehandbook – which was over 500 pages

requesting or requiring therelease of genetic information incomprehensive health records at atime when it is infeasible to sepa-rate genetic information fromother health records.

If GINA serves to declare theunacceptability of genetic-baseddiscrimination and begins aprocess of careful considerationof a wide range of health relatedissues, then it will be valuable.But it is far from clear that GINAwill have such an effect. It is notclear that GINA, by singling outgenetic information for specialtreatment, will not increase thestigma associated with geneticsand encourage other condition-specific, rather than comprehen-sive, legislation. It is not clearwhether GINA will be the first stepto meaningful legislation or causelegislative fatigue based on theerroneous assumption that theissues already had been resolved.It is not clear whether consumerswill understand GINA’s limita-tions or mistakenly rely on its pre-sumed protections. In the shortterm, the worst thing that couldhappen is for advocates of geneticrights and fairness in health careto be satisfied with GINA or exultin its enactment.

Mark A. Rothstein, J.D., is Directorof the Institute for Bioethics,Health Policy and Law at theUniversity of Louisville School ofMedicine, where he holds theHerbert F. Boehl Chair of Law andMedicine. He also holds the Chairfor the Subcommittee on Privacyand Confidentiality of the NationalCommittee on Vital and HealthStatistics and is President of theAmerican Society of Law, Medicineand Ethics.

“‘They were trying tofire him for refusing

to take a medical testfor a problem thathad already beenfixed. It was justbizarre, really.’”



question the bloodwork, setting thewhole case in motion. “Look hownaïve I’d have been if my wife wasn’t aregistered nurse!” Gary says.

NNaattiioonnaall aatttteennttiioonnThe Avarys’ case attracted a flurry

of news coverage. “When you exposebig companies to the media … the rail-road can’t take that. They really wantto keep things out of the paper,” Garysays. In which case, the timing could-

n’t have been worse for BurlingtonNorthern: the EEOC suit was filedonly days from researchers’announcement of a draft map of thehuman genome, so the potential useand misuse of genetic informationwas a hot topic. The first reporters tointerview the Avarys told them upfront: “It’s going to get crazy.”

With all the unwanted attention itreceived, did the railroad shift its atti-tude? “No,” Janice says flatly. “Theywere basically embarrassed becausethey got caught. And that was my feel-ing all the way around: they were veryembarrassed because they gotcaught.”

After the suit was filed, BurlingtonNorthern spokesman RichardRussack insisted that the companyhad “good intentions” and said, “Idon’t think there’s anything wrongwith a company trying to do some-thing for the benefit of its employees.”

He did admit, though, that “it couldhave been handled better.”

“They were so candid, and the peo-ple they got the genetic informationfrom had no idea it was even goingon,” Janice says. But she also says thatattitude was not surprising. “If youlook at the history of the railroad, the

employees have always been dispos-able. So that was not surprising, thatthey’d have the arrogance to talkabout it that way. Not at all.”

It’s the same reason, Gary says, thatthe railroad adopted the hydraulictools that led to the same carpal tun-nel surgeries it was trying to avoidpaying for. “The railroad knew thekind of injuries they were going to getinto when they started going tohydraulic tools instead of manual.They were looking at production ver-sus what it would do to employees.”

As part of Burlington Northern’ssettlement with the EEOC, the compa-ny would not have to admit guilt forsecretly testing its employees.However, the settlement also requiredthe company to send an apology letterto all of its employees, Gary says.“Now how do you do that withoutadmitting guilt?”

AAddvvooccaaccyyThe Avarys became involved in the

push for genetic nondiscriminationlegislation, flying to New York andWashington, D.C., meeting with legis-lators, testifying before Congress,and raising awareness so that theirsituation would not be repeated. Theyfound out that it already had.

“We got a lot of calls from the EastCoast, from the West Coast – people who did not want to tell theirname, but wanted to tell us what hap-pened – because they had actuallyapplied for jobs and that was part ofthe pre-employment examination,”Janice says.

“A lot of people wouldn’t come for-ward,” Gary says, “because they didn’twant to get fired.”

Even with GINA’s passage, theAvarys note that fear of repercussionsmay deter individuals from reportingcases of illegal genetic testing anddiscrimination, especially in difficulteconomic times.

“You have a right to ask why,” Janicesays. “People need to know that onephone call to the EEOC would put theflags up, and that company would beimmediately investigated. If someonewere to call there today and say, ‘I wasapplying for a job and part of the

long – included a rule allowing thecompany to require mandatory med-ical testing, but no obligation for thecompany to reveal the results of thoseexams to employees. “That’s whatthey were banking on,” Janice says.“There was no legal recourse – theywere going by that one rule in theemployee handbook.”

By refusing to submit to DNA tests,Gary broke the rule. For the railroad,this amounted to insubordinationand grounds for dismissal. The com-pany informed Gary that he was beinginvestigated for disciplinary reasonsand was scheduled for a hearing. Therailroad later denied that he had beenscheduled for a disciplinary hearing,redubbing it “an investigation,” “ameeting,” and “a discussion.” FromGary’s point of view, though, the mes-sage was clear.

“My supervisor had been on vaca-tion, and when he came back he said,‘Gary, what have you done?’ He wasn’tup to speed on what had happened. Hesaid, ‘They want me to fire you!’”

“They were going to fire him, andactually did start it,” Janice says.“They actually canceled our medicalinsurance.” At least one otherBurlington Northern employee whohad raised concerns about the testingreported having his insurancedropped as well.

The company might have continuedtheir secret testing if not for oneseeming oversight. “I’d already hadplenty of exams – my doctor releasedme, and I was 100%,” Gary says. “Sohow badly did they want my blood? Iwas already released from the doctor, Iwas already back to work, and theystill send me this letter – I kind of won-der sometimes if it wasn’t a foul up.”

“They were trying to fire him forrefusing to take a medical test for aproblem that had already been fixed,”Janice says. “It was just bizarre, real-ly. They just picked the wrong person,I guess, to try to force and coerce intodoing something – I mean, how canyou force someone to have medicaltests on something you’ve already had fixed?”

Ultimately, though, it was Janice’smedical knowhow that made her


with the knowledge of the employee.

4) FMLA compliance and informationof a manifested disease or disorderthat poses an imminent hazard ofdeath or life threatening illness.

GINA maintains strong enforce-ment mechanisms in both Titles con-sistent with existing law in theirrespective areas.

The sophistication of many subjectsdoes not lend itself well to comprehen-sive legislation. Therefore in thesecases the Congress will designateFederal agencies for additional rule-making. At present, agencies chargedwith administering GINA are under-taking the rulemaking process.14

While such rules do not have the samestanding as law, they are highly influ-ential. My first act as President of theCouncil for Responsible Genetics wasto testify before the Commissioners ofthe Equal Employment OpportunityCommission for strong regulations,and I continue to work on commentsto address lingering concerns. As thisprocess unfolds we are sure to learneven more about GINA. Much of theregulations will center on further clar-ifying key terms. My hope is that theywill do so in a strong and unambigu-ous manner. They will also discuss inmore detail the affirmative steps thatcovered entities (be they insurers oremployers) will need to take to remainin compliance with GINA and howboth Titles will interact. Finally, theywill further define the exceptions inTitle II on the prohibition of collectionof genetic information. It is our hopeand expectation that they will con-strue these exceptions narrowly to beconsistent with the intent of Congress.

ConclusionBismarck said well over a hundred

years ago that “politics is the art ofthe possible.” GINA provides strongnew protections for all Americansagainst discrimination and access togenetic information, but to pass anylaw involves compromise. GINA, forexample, does not address genetic dis-crimination in life insurance, disabili-

ty insurance, or long-term care insur-ance. Nor does GINA address other, atleast theoretical, areas where theremight be genetic discrimination inthe future. Certainly many of us whoworked on GINA regret dearly thatGINA does not protect symptomaticindividuals. The inclusion of this classof individuals would have brought upa larger debate on the limitations ofthe Americans with Disabilities Actbecause in many cases the extent oftheir condition would not be signifi-cant enough to qualify for its protec-tions. It would also have implicated anethical debate on “genetic exception-alism” by offering protections tosymptomatic individuals with geneticconditions but not to individuals forwhom no such linkage could bedemonstrated. There was no supportin Congress for these discussions andthey would have derailed GINA.

No single law solves every issue thatit might implicate. The Civil RightsAct of 1964 was no less a watershedmoment in the history of our countrybecause it didn’t cover discriminationin housing or based on age and dis-ability. These protections came later.Nor was the Civil Rights Act of 1964any less significant because itremains ineffective at addressingareas where race and gender discrimi-nation remain institutionalized inthis country from education to thecriminal justice system. GINA is astrong and essential first step in thefight against genetic discriminationand misuse of medical informationmore generally, but it is not our lastbattle. The precedent of GINA, as wellas the improved level of education onCapitol Hill as the result of the processof enacting it, will allow us to buildupon the foundation that GINA nowprovides. We must continue to seekout and address discrimination inevery corner and ensure that strongprotections are in place to address it.

Jeremy Gruber is President of theCouncil for Responsible Genetics.

requirement to get hired was genet-ic testing,’ you can bet in a NewYork minute that the EEOC wouldbe all over them.”

“What most people, even today, donot do is ask questions. Why areyou drawing the blood? What bloodtests are you doing, and what arethey for? Ask them explicitly: ‘Ineed to know exactly what thisblood test is for.’ And ask for theentire list. You never know whatmight show up in there.”

LLiiffee ggooeess oonnThe Avarys couldn’t have imag-

ined where their cause would takethem, Janice says.

“We're in the middle of Nebraska,so it was this whirlwind thing forus, very exciting, flying back andforth to Washington, testifyingbefore Congress, to think that wemight actually assist in gettingthat law put into place.”

The plane trips stopped early inthe Bush presidency, but theAvarys stayed in the loop. They cel-ebrated GINA’s passage, but main-tain a cautious view of its impact;after all, Gary says, “Laws are bro-ken every day.”

After the excitement died down,the Avarys spent some on the road,seeing the country in their RV.Gary doesn’t work for the railroadanymore. Burlington Northern did-n’t try to fire him again, but theychanged his position to one thatinvolved a good deal of traveling -knowing, Gary suspects, that hewould quit rather than spend thatmuch time away from his family.

After all they’ve been through,though, the Avarys don’t wastetime being bitter. These days Garyis working at a railroad museum.He and Janice are still in the middleof Nebraska, about two hours westof Lincoln, “enjoying the simplethings: unobstructed sunrises,grandchildren, and the daily mira-cles that God provides.”



Genetic Discrimination:Australian Experiences and PoliciesA five-year study reveals the existence and impact of geneticdiscrimination in Australia

BY KRISTINE BARLOW-STEWART, PH.D.

From the start of the Human GenomeProject, and continuing in the post-mappingera, the ethical, legal and social issues asso-ciated with knowledge of a person’s geneticinformation have been highlighted. In par-ticular, there has been widespread interna-tional concern about the potential for differ-ential treatment of healthy asymptomaticindividuals based solely on their geneticmakeup predicted from genetic testing orinferred from their family history. Most con-cern has been raised about this concept of‘genetic discrimination’1 in commercial set-tings such as insurance and employment,unsurprising given the commercial value ofpredictive test information to such third parties.

In Australia in 2000, the announcement offindings of a study by Barlow-Stewart andKeays2 that had identified 48 anonymouslyreported cases of genetic discrimination, inareas that included life insurance andemployment, attracted significant mediacoverage. This was the impetus for the

Australian Federal Government to requestthe Australian Law Reform Commission(ALRC) and the Australian Health EthicsCommittee (AHEC) to conduct a comprehen-sive inquiry into the Protection of HumanGenetic Information. The Terms ofReference governing the 2001-2003 Inquirywere to recommend, in relation to humangenetic information – and the samples fromwhich the information is derived – how tobest protect privacy interests, protectagainst unfair discrimination and ensurethe highest ethical standards. The FinalReport, Essentially Yours (2003)3 contained144 recommendations directed at 31 bodies(government, regulators, educators, healthprofessionals, insurers, employers and oth-ers) and covered the use of genetic informa-tion in a myriad of areas including risk-ratedinsurance, employment, identity testing andforensics and sport. Dr. Francis Collinsdeclared the Report “a truly phenomenal job… placing Australia ahead of what the rest ofthe world is doing.” The Australian govern-


ment accepted the majority of therecommendations and implementa-tion is proceeding; the NationalHealth and Medical Research Councilthrough its Human GeneticsAdvisory Committee were referredthe areas of health, research andrisk-rated insurance.

Genetic information and risk-ratedinsurance

In Australia, there is a nationalhealth system and private healthinsurance is not risk-rated. Thereforeconcerns regarding the potential forgenetic discrimination are directedat the life insurance industry. TheDisability Discrimination Act 1992(Cth)4,5,6 acknowledges the commer-cial nature of life insurance as a formof voluntary mutually rated lifeinsurance which of its natureinvolves differentiating betweenapplicants on the basis of theirhealth status and family histories ofhealth problems. Therefore, lifeinsurers in Australia are legally ableto ‘discriminate’ between people onthe basis of their future health riskswhen making underwriting decisionfor life insurance products thatinclude death cover, trauma andincome protection, and long termcare insurance. Insurers are not inbreach of the Act if their actions arebased on sound actuarial or otherstatistical data; thus the use ofgenetic information, whetherobtained from genetic test results orreports of the health and causes ofdeath of close family members, is notunfair discrimination under the Actwhen used in this way. The recom-mendation of the ALRC/AHEC sup-ported this concept that geneticinformation is no different to anyother information for insurance pur-poses; that is, the general law oninsurance contracts requires mutualdisclosure in good faith of all rele-vant material and information thatwould help in risk assessment.

A cooperative approach, ratherthan a legislative one, has been taken

in Australia in regard to geneticinformation and risk-rated insur-ance. The insurance industry hasbeen very proactive in the use ofgenetic test results in underwritingby developing a policy, in 2000, thatno insurer will require an applicantor insured person to have a DNAtest.7 However, if a consumer has hada genetic test, or knows the results ofrelatives’ genetic tests, they mustdeclare them when applying for anew policy or changing an existingone. Once a policy is taken out andpayments are maintained, it isdescribed as ‘guaranteed renewable’:no further information, such as the

results of a genetic test, needs to be provided to the insurer.8

Nevertheless, the ALRC/AHEC Reportidentified some issues that remainedto be addressed to ensure that inap-propriate use of genetic informationdoes not occur within the industry.These include the continuing educa-tion of agents in the insurance indus-try to avoid inappropriate discrimi-natory use of the information; a clearunderstanding by customers of themechanism to lodge complaints if itis felt that inappropriate decisionshave been made; ensuring rigorousactuarial assessment of the applica-bility of a DNA test in the insurancesetting; and existence of applicationand information sheets written inplain English so that applicantsunderstand exactly what is requiredof them.

The need for these issues to beaddressed has been underscored bydata generated from the recently com-pleted five-year Genetic Discrimina-tion Project (GDP)9,10 which providesthe first empirical evidence of theexistence of genetic discriminationin the life-insurance sector11. TheGDP also verified that some people donot undergo genetic testing thatcould be beneficial for their futurehealth because they fear that theresults could jeopardize their own ortheir relatives’ access to life insur-ance. While the numbers of verifiedconsumer-reported incidents weresmall, it is clear that a procedureneeds to be set in place to ensure thatgenetic tests are used appropriatelyand underwriting is on the basis ofactuarial data, requiring input frominsurance industry bodies workingwith experts in genetics. The GDPcould not have been completed with-out the support and co-operation ofthe Australian life insurance industryand it is hoped that further reformswill be generated on the continuedbasis of this cooperation.

It will also be essential for insurersto address the potential impact oftheir requirements for full disclosureof genetic test information on therecruitment of volunteers in geneticsresearch projects. The consentprocess needs to make it clear that iftheir test results will be provided tovolunteers as part of their involve-ment in the research, they will haveto declare the results in their insur-ance application or when changingtheir insurance policy, despite poten-tial adverse effects. It is also impor-tant to note that research partici-pants who are not given test resultsare under no obligation to disclosetheir involvement in the researchproject.

Genetic information and employment

The ALRC/AHEC recommenda-tions, accepted by the government,covered the use of genetic informa-

“[The study] verifiedthat some people do notundergo genetic testingthat could be beneficialfor their future healthbecause they fear thatthe results could jeop-

ardize their access to lifeinsurance.”


tion (Ch 29) in employment-basedhealth screening, health surveillanceand other health assessments, includ-ing those for occupational health andsafety.3 Given that there is no linkagebetween employment and healthinsurance in Australia, the issue isthe balance between the interests ofemployers, employees and the publicand the inappropriate use of geneticinformation in the workplace. In theoccupational health and safety set-ting, there is the potential to usegenetic information to identify per-sons who are susceptible to work-place hazards, or who pose a risk tothemselves or others as a result ofpossible future onset of a genetic dis-ease and to monitor employees’health over time where there is indus-trial exposure to, for example, toxicchemicals or radiation. However, con-cern has also been expressed aboutother drivers for its use, includingeconomic factors to limit payouts inthe case of workplace injury and lia-bility. In one of the cases verified bythe GDP, in a workers’ compensationclaim of a woman who had injured herback at work, the tribunal adjudicat-ing the case requested that her claimbe subject to having a predictivegenetic test to prove that she had notinherited the faulty gene forHuntington disease, of which she hada family history. This was based onthe erroneous view that her fall mayhave been due to the first signs of thecondition, and so was an inappropri-ate and discriminatory request, deny-ing her the right to make anautonomous choice whether to knowher genetic makeup in regard to thislate onset and untreatable neurologi-cal condition.

Despite this case, the GDP studyfound that there is currently no evi-dence of systematic use of genetictesting or other genetic informationby Australian employers for screen-ing or monitoring purposes, confirm-ing the conclusions of the ALRC/AHEC Report.12 Although there waslittle evidence of Australian employ-

ers currently using genetic informa-tion, it was seen as almost inevitablethat, as tests become cheaper andmore reliable, employers would seekto make use of such information inthe future. The GDP study also con-firmed this view, with a number ofemployers expressing interest in thefuture use of genetic tests if theybecame more reliable.

In contrast to policies directedtowards the insurance industry, theALRC/AHEC recommendations advo-cated changes to legislation thatwould amount to a general prohibi-tion of the use of genetic informationby employers, with very limited excep-tions primarily on occupationalhealth and safety grounds. In theexceptions in which a genetic testmay be used in the employment set-ting, there needs to be strong evi-dence of a clear connection betweenthe working environment and thedevelopment of the condition; it mustbe shown that the condition may seri-ously endanger the health or safety ofthe employee; and the test must be ascientifically reliable method ofscreening for the condition.Moreover, policies would need to bedeveloped governing how the DNAsample is stored and protectedagainst being used for other purposesor the destruction of DNA sampleswhen an employee leaves the organization.

Again, the Australian FederalGovernment endorsed the broadthrust of these recommendations,13

but they have yet to be legislativelyimplemented.

Seeking redress for genetic discrimination

From the GDP’s analysis of casesthat came before anti-discriminationtribunals and other relevant bodiesin Australia, it is clear that only a rel-atively small number of cases ofgenetic discrimination have beentaken to tribunals seeking legalredress14. This view was confirmedby consumers who reported financial

and emotional barriers to seekingredress, as well as not knowing whereor how to complain.15 It is essentialtherefore to promote and facilitateavenues of complaint and redresswhen policies or legislation areimplemented in order to prevent orlimit genetic discrimination.

ConclusionThe empirical evidence of genetic

discrimination provided by the workof the GDP has finally put to rest theperception that the phenomenon is ameasure of “genetic dread” in society- that it simply reflected community-based fear rather than reality.16 Lifeinsurance was the main context with-in which genetic discriminationoccurred in the Australian investiga-tion, but this does not discount thepossibility of genetic discriminationin health or other risk-rated insur-ance in other countries. The responsemade by each country to prevent orminimize the harm associated withthe broadening applications of genet-ic technologies will necessarily bebalanced by the economic, legal andethical concerns within differentpolitical systems.17 What is undeni-able, however, is that such policiesand/or legislation must be put intoplace to maximize the benefits tosociety generated by developments inthis dynamic field of genetic scienceand medicine.

Kristine Barlow-Stewart, Ph.D., isDirector of The Centre for GeneticsEducation at Royal North ShoreHospital in Sydney, Australia, andClinical Associate Professor in theFaculty of Medicine at the Universityof Sydney.


In a famous story recorded inmany ancient cultures, an elephantis examined by six blind men whocome to vastly different conclu-sions about its manifest character-istics and, in some versions, windup in a brawl. With advances in sci-entific understanding and profes-sional specialization, and the riseof ‘translational research’ deliver-ing partially digested knowledgeinto clinics and commercial venues,a comparable project would nowrequire an extraordinarily patientelephant and an army of sensoriallylimited experts. In his highlyinstructive and readable book,Experimental Man, What OneMan’s Body Reveals about HisFuture, Your Health and Our ToxicWorld, the journalist David EwingDuncan offers himself up as the ele-phant and permits us to follow himon a privacy-invading tour of thecurrent state of technologicalanalysis of (his) body, mind andenvironment, and some of their dis-cernible interactions. The result, ifnot the open scuffle of the blindanalysts, reminds us that we arestill groping in the dark when itcomes to fathoming our biologicalnature.

Duncan’s project was a seriousone, though ultimately anecdotaland inconclusive. In the course ofhis assisted self-study he had theequivalent of a quarter of his bloodvolume withdrawn for analysis, wastested for more than 7 milliongenetic markers and 320 chemicaltoxins, spent a total of 22 hours inmagnetic resonance imaging (MRI)machines and ate enough fish overthe course of one week to raise histissue mercury levels to alarminglevels. Some of his tests were per-formed by commercial ventures like

consumer genetic testing company23andMe, and a stand-alone CATscanning operation, but many weredone in government and academicsettings like the NationalInstitutes of Health ChemicalGenomics Center, New YorkUniversity, and the University ofCalifornia, San Francisco MedicalCenter.

The expedition also held a certaindegree of drama: although theauthor is in good health, early on heis confronted with the finding bythe Icelandic company deCODE of agenetic variant he harbors which,according to the company’s founderand director Kari Stefansson (oneof a fair number of prominentlyplaced interviewees or interpretersthat add interest and occasionallysubstance to the unfolding story),increases Duncan’s risk of a heartattack by as much as 60 percent.The subject, looking on the brightside, tempers this bad news withhis results for other markers, someof which point to a lower than nor-mal risk for a cardiac event. Sincenone of the experts or entrepre-neurs he consults has any bettermodel than his for integratingthese data, his anxiety is temporar-ily allayed. Only when another com-pany, using analysis of serum lipidsin conjunction with a subset of hisgenetic tests, pronounces that aweight gain of a pound a year by the 52 year old Duncan would give him a 100 percent risk of a heart attack by the time he reached 66, does he begin to reel.

The third of the book that dealswith genetics is clearly presentedbut, satisfyingly, resists a facilereductionism. The human body isan entity formed and operating onmultiple scales, and the author

Experimental Man: What One Man’sBody Reveals about His Future, YourHealth and Our Toxic WorldBy David Ewing DuncanJohn Wiley & Sons, 2009; pp. xi + 370

Book Review: Experimental ManBY STUART A. NEWMAN, PH.D.


imparts no suggestion that the geneticlevel is a privileged one. The informationpresented to him is just too chaotic (andsince of only one sort, probably inherentlyso), to constitute anything like the “blue-print” promised by the Human GenomeProject. The word does not appear in the book.

Duncan attempts to deepen the analysisby recruiting some family members for thegenetic testing portion of the project. Hisbrother has been chronically affected byfragile bones throughout his life, whichessentially ended his career as an outdoorphotographer and his pursuit of strenuousfavorite avocations. None of his genetictests, including ones for the usual brittlebone suspects, turned up anything useful.Discouraged by this and other non-informa-tive results on him and his relatives, theauthor names the current period the Age ofGenetic Confusion. He anticipates a betterfuture “as software engineers design betterprograms to crunch through and analyzethe data, and as clinicians validate theinformation on real patients.” This hope ispartly justified. Genes will never explaineverything, but they do explain somethings, among which are individuals’ abili-ties to tolerate and respond to certain med-ications and toxins. It is reasonable tothink that analysis of gene combinationswill eventually also disclose the basis ofobscure congenital conditions.

The litany of tests would be much lesscompelling if not for the author’s optimismconcerning eventual benefits to the publichealth and his constant desire for goodnews concerning his personal capacitiesand fate. But he also exhibits a robust skep-ticism which increases with each succes-sive battery of tests, including ones inwhich his body’s burden of environmentaltoxins is assayed, and his brain is scannedand mental activities evaluated. He sug-gests that a reseacher’s interpretation of afunctional MRI of his brain while being

asked questions relating to belief in Godmay be “a sophisticated version of readingtea leaves.” Duncan conveys his doubts notonly in his own words, but in interspersedcritiques by scientists of the less entrepre-neurial stripe and the comments of his per-sonal physician, Joshua Adler, a wise voiceamong the technobabblers.

The book concludes with an epiloguedescribing a few more nebulous businessmodels on the horizon (electronic dreammonitoring, proteomics), and musing aboutthe prospect of extending life and the qual-ity of life with knowledge gained from theadmittedly early-stage tests and assays towhich Duncan subjected himself. Here theauthor widens the frame to consider theglobal context of humane allocation ofresources. This section also con-tains aspirited critique of Transhuman-ism, a late-ly fashionable quest to use technology totranscend human biology. And despiteacknowledging discussions with a friendand advisor from academia who not longago was vigorously promoting the improve-ment of humans by germ line genetic modi-fication, there is not a trace of that misbe-gotten notion in this useful book.

Stuart Newman, Ph.D., is Professor of CellBiology and Anatomy at New York MedicalCollege. He has been a consultant to theNational Institutes of Health and has tes-tified before Congress, and he was a found-ing member of the Council for ResponsibleGenetics.


The announcement in February2001 that researchers had sequencedthe entire human genome sparkedimmense publicity that was withoutprecedent in the biological sciences.The public attention was a conse-quence of the putative chief motiva-tion in personalized medicine for thesequencing efforts. While it is truethat the human genome sequence is ofgreat interest to evolutionists tryingto reconstruct human ancestry and tobiologists whose attention is on theunderstanding the processes of devel-opment and of molecular interaction,the promise of benefits for humanhealth has been the overwhelming jus-tification for that immensely expen-sive effort.

The underlying claim is one ofextreme genetic determinism. Theassumption is that all-important vari-ations in basic physiological anddevelopmental processes are thedirect result of genetic variation, sothat pathological states are reflectiveof “abnormal” gene function due tomutations producing variantnucleotide sequences. This goesbeyond the claim that systemic disor-ders like cancer, stroke and cardiacdisease would eventually be treatableand even preventable using eithergene therapy or on other interven-tions based on our knowledge howgenetic variation causes pathologicalstates: while the race to sequence thegenome was under way, WilliamHaseltine, as CEO and Chairman ofHuman Genome Sciences, assured usthat “Death is a series of preventablediseases.” Knowledge of our DNAapparently assures us of not only bet-ter health, but immortality as well.

There is a long history, predatinggenomic studies, of the discovery ofgenetic mutations that are responsi-

ble for some human disorders. Theclassic example is phenylketonuria(PKU), in which the affected individualis homozygous for a single mutation.In PKU the enzymatic pathway thatnormally breaks down the amino acidphenylalanine is blocked, with theresult that lethal concentrations ofthe amino acid accumulate in thebody. The disease is rare, however, asmight be expected for a simply inher-ited lethal disorder. We do not expectto find single gene mutations of largeeffect that explain the prevalence ofdiseases – such as cancer, stroke, andheart disease – that are the commondirect causes of mortality in popula-tions not suffering from severe mal-nutrition or epidemic infections. Evenin the famous case of the BRCA1 andBRCA2 mutations, where the presenceof the mutation results in a very highprobability of contracting breast can-cer, only about 15% of all breast cancersufferers carry the mutation. Thechief sources of breast cancer remainto be found.

The belief that genes determine thecharacteristics of individuals, togeth-er with the lack of evidence for simplesingle-gene defects as the cause of themajor sources of disease and mortali-ty, has led to a deterministic model ofgenetic causation of disease and anew approach to searching for geneticcausation. This approach has beenmade possible by the availability of acomplete DNA sequence of the humangenome and of tools for detectingnucleotide differences between thegenome sequences of individuals.Humans are genetically polymorphic:no two individuals (except for identi-cal twins) will have identicalnucleotide sequences. At anynucleotide position, some fraction ofindividuals will carry a different

nucleotide than the common one, a phenomenon called SingleNucleotide Polymorphism (SNP). Onetechnique for searching for geneticcausation of diseases is to scan thegenomes of a sample of both dis-eased and healthy individuals forpositions in the genome where statis-tical differences exist. Ideally, all ofthe diseased individuals would havea different nucleotide at a particularposition compared to the healthyindividuals, but in practice there isonly a difference in the proportion ofthe four nucleotides, except in casesof well known simple genetic disor-ders like PKU.

The screening of whole genomes forvariant SNP’s has been a major indus-try in both academic and commercialbiomedical laboratories during thelast decade, and reports of newly dis-covered genetic differences betweenhealthy and diseased individuals havebeen a weekly phenomenon in medicaljournals, in general scientific publica-tions like Nature and Science, and inthe science sections of major newspa-pers. Then, suddenly, it was revealedthat the whole enterprise had failed toproduce useful results. On the frontpage of the New York Times on April18, 2009, there appeared over thebyline of one of the greatest boostersof genetic determinism, NicholasWade, an article whose headline read“Study of Genes and Diseases at anImpasse.” In the same week, the Newsof the Week section in the April 24issue of Science reported on the “rela-tively low impact” of the SNP studiesdone so far. Both of these reports wereinstigated by an article appearing inthe April 23 issue of the New EnglandJournal of Medicine reporting on thesearch for “genes underlying the riskof stroke in the general population”

Where Are The Genes?As the tenets of genetic determinism are challenged,its proponents stand firm

BY RICHARD LEWONTIN, PH.D.


disease, a form of bowelinflammation. It is theseresearchers’ contentionthat the large number ofvariants of small effectthat have been discoveredreveal the truth about thegenetics of disease, namelythat “many, rather thanfew, variant risk alleles areresponsible for the majori-ty of the inherited risk ofeach common disease.”They point out that newsites associated with agiven disease are constant-ly being discovered as moresamples are probed. Theyclaim that having someinformation is always use-ful, and the fact that com-plete information aboutthe genetic causes of a dis-ease is not available at agiven time does not makethe method useless.

However, their analysis does not makeclear what preventive or curativeaction should be taken if scores orhundreds of individual nucleotidesubstitutions, each of vanishinglysmall effect, constitute the collectivecause of common diseases.

Some of those who question thismethod of looking for nucleotide vari-ants point out that the very fact thatvariants are in medium to high fre-quency is evidence that that they can-not be of major effect on the disease.Indeed, the integrated physiology oforganisms makes it likely that allkinds of variation in genes whosedevelopmental and physiologicaleffect is far removed from the primarydisease pathway will have minoreffects on the disease condition. Onesuggested alternative method is tocarry out intensive complete sequencestudies of the entire genome on asmall number of affected individuals.The purpose would be to find geneticvariants of major effect that are at lowfrequency in the population and wouldnot be detected by the chip technolo-gy. It is to be expected, after all, that

and several commentarieson the approach to findingsuch genes. The generalconsensus of all of thesereports is that the searchfor genetic causes underly-ing major causes of mor-tality has so far been agreat disappointment.

The facts certainly bearout their pessimism. Theusual measure of a specificgenetic difference’s impor-tance is to calculate a riskratio, asking: What is therisk of persons with thisgenotype for contractingthe disorder relative to therisk in persons with a dif-ferent genotype? Anotherform of risk calculation isthe sibling risk ratio,which asks how muchmore likely it is that twosiblings will be affectedthan two unrelated per-sons, taking into account the genesshared by siblings. In the study onstroke, two candidate SNP’s werefound on the same chromosome withrisk ratios of 1.3 (or a 30% relative riskincrease). This hardly represents amajor increase in risk, but it is actual-ly higher than the usual outcome ofsuch studies. In a study of type 2 dia-betes, for example, seven gene vari-ants have been identified; the one withthe strongest effect had a sibling rela-tive risk of only 1.02 and the remain-ing six had ratios between 1.005 and 1.01.

The various commentators in theNew England Journal of Medicine donot dispute these results, and onemight suppose that they would beginto doubt the assumption of geneticcausation – and that Wade’s article inthe New York Times might reflect thatdoubt. Yet, in actuality, their underly-ing assumption of genetic determina-tion is unshaken. In reporting on thedisappointing results of genome wideassociation studies (GWAS), Wadewrites that the method “has turnedout to explain surprisingly little of the

genetic links to most diseases” (italicsadded). Moreover he states flatly that“common diseases like cancer anddiabetes are caused by a set of severalgenetic variations in each person.”

Like Wade, none of the authors ofthe articles in the New EnglandJournal of Medicine has the slightestdoubt that genetic differences reallyunderlie these common diseases.What they disagree about is the bestmethodology for finding them. Thestandard GWAS method for screeningfor SNP’s relevant to diseases is to usechips that contain about 500,000 ofthe approximately 3.5 billionnucleotides in the human genomesequence. These 500,000 nucleotidesare those that are known to have com-mon variants (that is, variants in fre-quencies of 1% or greater). The sup-porters of this technique point outthat over 200 spots in the genomehave already been shown to be associ-ated with diseases, and as chips areimproved many more such nucleotidepositions will be identified. For exam-ple, 35 spots in the genome havealready been associated with Crohn’s


The 9th chromosome, from the poster “Human Genome Landmarks:Selected Genes, Traits, and Disorders.” U.S. Department of EnergyGenome Programs. http://genomics.energy.gov

genetic variants of large causal forceon disease will be in very low frequen-cy since natural selection will havebeen effective in reducing their fre-quency in the population. It is thehope of this school that a study ofsuch rare variants of large effect willsuggest therapeutic directions thatare not apparent when small effectvariation is studied.

Both sides in the struggle over howto study the genetics of common dis-ease make deep assumptions whichwe know not to be true. The first istheir reliance upon genetic determin-ism. This approach finds all diseasesthat are not the result of infectiousagents to be the consequence of faultygenes. The failure to find the genedefects that cause a disease musttherefore be the result of faulty tech-nique; nowhere are environmentaleffects taken into account. At thepurely methodological level, the veryconcept of “relative sibling risk”assumes that similarity between sib-lings in disease pattern must be aresult of genes in common. What

opmental pathways within organisms.Some of these interactions are of ahomeostatic nature, so that the effectof large perturbations to one pathwaymay be dampened by reactions inperipherally related pathways, yet feltin those peripheral reactions. Justbecause I have a headache doesn’tmean that the real problem isn’t in mystomach.

The doctrine that we are the productof our DNA leads to the fantasy that bymanipulating our DNA we could avoidor cure all disease and even escapeeventual death. That is indeed a fanta-sy. All flesh is mortal.

Richard Lewontin, Ph.D., is AlexanderAgassiz Research Professor atHarvard University. He is the author ofnumerous works on evolutionary theo-ry and genetic determinism, includingThe Genetic Basis of EvolutionaryChange and Biology as Ideology, TheDialectical Biologist (with RichardLevins) and Not in Our Genes (withSteven Rose and Leon Kamin).

about the common environment with-in families? Is there no evidence thatheart disease, cancer, and hyperten-sion leading to stroke are induced byenvironmental stresses? Is it not pos-sible that genetic effects are minor incomparison?

Secondly, there is the issue of gene-environment interaction. The meth-ods of population sampling for genet-ic studies take no account of the factthat different genotypes have differ-ent sensitivities to environmentaleffects. Moreover, there is no reasonto suppose that genetic and environ-mental effects are additive or evensimply related. Genotype A may bemore likely to lead to a disease statethan genotype B in one environment,but less likely in a different environ-ment. This is a common observationin experimental outcomes of varyinggenotypes and environments, yet thepopulation sampling that is carriedout for genomic disease studies takesno account of such interactions.

Thirdly, there are complex interac-tions between physiological and devel-

EEddiittoorriiaall,, pp..221. Weiss, Rick. "Ban on Genetic-Test Bias May Pass Senate." Washington Post, Thursday, April 24, 2008; Page A04.

GGrruubbeerr,, pp..441 The Americans with Disabilities Act (ADA), 42 U.S.C. §§ 12101-12213 (July 26, 1990).2 See for example, U.S. Congress Office of Technology Assessment, “Genetic Monitoring and Screening in the Workplace,”

OTA-BA-455 (Washington, D.C.: U.S. Government Printing Office, October 1990.)3 See, for example Lisa N. Geller, Joseph S. Alper, Paul R. Billings, Carol I. Barash,, Jonathan Beckwith and Marvin R.

Natowicz, “Individual, Family, and Societal Dimensions of Genetic Discrimination: A Case Study Analysis”, Science andEngineering Ethics, 1996, vol. 2, Issue 1.

4 The “Genetic Privacy Act” was announced in March 1995. It was a component of the U.S. Human Genome Project’s Ethical,Legal, and Social Issues (ELSI) working group. George Annas, Leonard Glantz, and Patricia Roche (Boston UniversitySchool of Public Health) authored the proposal with funding from the DOE ELSI program.

5 See the National Conference of State Legislators’ (NCSL) Genetic Technologies Project database for more information ongenetic discrimination state laws (http://www.ncsl.org/programs/health/genetics.htm).

6 EEOC Compliance Manual § 902, Order 915.002, 902-45 (1995).7 For a more thorough discussion of this issue see Gruber, Jeremy “Genetic Discrimination and the Americans with

Disabilities Act: An Unlikely Fit,” http://www.workrights.org/issue_genetic/gd_ada.html.8 U.S. Senate Committee on Health, Education Labor, and Pensions Committee , Committee Hearing “Genetic Discrimination

in the Workplace.” ( July 20, 2000).9 Executive Order 13145 , 65 Fed. Reg. 6,877 (Feb. 10, 2000).10 Coalition for Genetic Fairness, “Faces of Genetic Discrimination: How Genetic Discrimination Affects Real People,”

July2004. .http://www.geneticalliance.org/ksc_assets/documents/facesofgeneticdiscrimination.pdf11 House Energy and Commerce Committee, House Ways and Means Committee and House Education and Labor Committee. 12 The hold privilege is allowed by Rule VII of the Senate Standing Rules. The practice is generally used to form consensus on

questionable legislation. http://rules.senate.gov/senaterules/rule07.php

Endnotes


GeneWatch Anniversary Archive: 1983-2008

The Council for Responsible Genetics was founded in 1983 to provide commentary andpublic interest perspectives on social and ecological developments of biotechnologyand medical genetics. For a quarter of a century, the Council has continued to publishits bulletin GeneWatch with articles by leading scientists, activists, science writers,and public health advocates. The collection of GeneWatch articles provides a uniquehistorical lens into the modern history, contested science, ethics and politics of genet-ic technologies. The full archive of GeneWatch has been incorporated into this specialanniversary DVD that includes an index of all the authors and titles.

Copies of the anniversary DVD are available for a $100 donation to:Anniversary CRG DVDCouncil for Responsible Genetics5 Upland Rd., Suite 3Cambridge, MA 02140

13 http://www.whitehouse.gov/omb/legislative/sap/109-1/s306sap-s.pdf14 The Departments of Treasury, Labor, and Health and Human

BBaarrllooww--SStteewwaarrtt,, pp.. 11551. Taylor SD. Otlowski MF, Barlow-Stewart KK, Stranger M, Chenoweth K., ‘Investigating genetic discrimination in Australia:

opportunities and challenges in the early stages’ (2004) 23(2) New Genetics and Society 225.2. Barlow-Stewart K. & Keays D., ‘Genetic discrimination in Australia’ (2001) 8 Journal of Law & Medicine 250.3. Australian Law Reform Commission & Australian Health Ethics Committee of the National Health & Medical Research

Council NHMRC (ALRC/AHEC) Essentially Yours: The Protection of Human Genetic Information in Australia (2003).4. Disability Discrimination Act (Cth) s 46.5. M. Otlowski, Implications of Genetic Testing for Australian Insurance Law and Practice, (2001) Centre for Law and

Genetics, Occasional Paper No. 1 6. M. Otlowski, ‘Resolving the Conundrum: Should Insurers be Entitled to Access Genetic Test Information?’ (2000) 11

Insurance Law Journal 193-215.7. Investment and Financial Services Association (IFSA), Standard No 11.00 Genetic Testing, cll 10.1 and 10.3. Because of the

potentially anti-competitive effect of this policy, authorisation for the Standard had to be obtained from the AustralianCompetition and Consumer Commission (ACCC) in 2002 and re-authorised in 2006.http://www.ifsa.com.au/documents/IFSA%20Standard%20No%2011.pdf

8. Life insurance contracts that are guaranteed renewable are to be contrasted with those general insurance products whichinvolve a fresh assessment on each renewal and full disclosure obligations at the time of that assessment. If an increase incover is sought under an existing guaranteed renewable policy, however, a fresh obligation to make disclosure arises at thetime of that application.

9. M. Otlowski, S. Taylor and K. Barlow-Stewart, ‘Major Study Commencing into Genetic Discrimination in Australia’ (2002) 10Journal of Law and Medicine 41-48. See also the project website: www.gdproject.org.

10. Taylor S, Treloar S, Barlow-Stewart K, et al. Investigating Genetic Discrimination in Australia: Perceptions andExperiences of Clinical Genetics Service Clients Regarding Coercion to Test, Insurance and Employment Aust J EmergTechn Soc 2007;5:63, available at <www.swinburne.edu.au/ajets>

11. Barlow-Stewart KK, Taylor SD, Treloar SA, Stranger M & Otlowski M ‘Verification of consumers’ experiences and percep-tions of genetic discrimination and its impact on utilisation of genetic testing’ (2009) 11 (3) Genetics in Medicine 193-201

12. Otlowski M, Stranger M, Taylor S. et al, Practices and attitudes of Australian employers in relation to the use of geneticinformation: report of a national study. (2009) Comp Labor Law Policy J In press.

13. Commonwealth Attorney General’s Department, Australian Law Reform Commission and Australian Health EthicsCommittee Report, Essentially yours: The protection of human genetic information in Australia: Government response torecommendations, Canberra, Commonwealth of Australia (2005).

14. Otlowski MF, Taylor SD, Barlow-Stewart KK, Stranger M, Treloar SA, ‘The Use of Legal Remedies in Australia for PursuingAllegations of Genetic Discrimination: Findings of an Empirical Study’ (2007b) 9 International Journal of Discrimination 3

15. Taylor SD, Treloar SA, Barlow-Stewart KK, et al. Investigating perceptions and experiences of genetic discrimination I: Alarge-scale survey of clinical genetic service consumers in Australia. Clinical Genetics (2008) 74 Clin Genet 20–30.

16. Wertz, DC, Genetic discrimination – an overblown fear? (2002) 297 Nat Rev Genet 196-19717. Rothstein M, Knoppers B. Legal aspects of genetics, work and insurance in North America and Europe.

LLeewwoonnttiinn,, pp.. 22001. Kraft, P. and D.J. Hunter 2009. Genetic risk prediction-Are we there yet?. New Engl. J. Med. 360;17: 1701-1703.2. Goldstein, D.B. Common genetic variation and human traits. N. Engl. J. Med. 360;17:1696-1698.


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