DPH Genomics Office(DPH-GO)

Beverly Burke, M.S.W., Genomics Office Coordinator

Joan Foland, M.Phil., Genomics Epidemiologist

CPHA April 10, 2013

Genomics …. the big picture

“… will be to the 21st Century what infectious disease was to the 20th Century for public health. It has the potential to change our thinking.

Genomics should be considered in every facet of public health: infectious disease, chronic disease, occupational health, and environmental health, in addition to maternal and child health." 

S. Gerard, M. Hayes, and M.A. Rothstein, J Law Med Ethics; 2002

And the really big picture:“Most if not all human disease results from the interaction between genetic susceptibility and environmental factors-broadly defined to include infectious, chemical, physical, nutritional and behavioral factors…”

“The public health impact of the human genome revolution is truly staggering.  Nine of the top 10 leading causes of death, most notably chronic diseases such as cancer and heart disease, have genetic components resulting from the interaction of genetic variation with modifiable risk factors. Muin Khoury, Director CDC Office of Genomics and Disease Prevention

Top 10 Causes of Death in the U.S.

Core PH Functions and Genomics

Assessment –Monitoring how genes interact with other factors and contributes to health outcomes.Policy Development – Ensuring the development of policies that support the appropriate use of genomics to improve public health while protecting individuals.Assurance – Evaluating the usefulness of genomics to improve ph, ensuring a health workforce that is knowledgeable about genomics, and ensuring that quality genetic services are available.

Genomics TodayExpanding genomic technologies Genetic testing – expanding, yet recent evidence suggests

that large segments of the physician community are not adequately trained to make appropriate use of genomic advances.

Pharmacogenomics- a growing number of drugs approved by the FDA contain pertinent pharmacogenomic information about efficacy or adverse events in their label.

Personalized Medicine-advances in genomic science have led to the development of “targeted” diagnostics and therapeutics that leverage knowledge of an individual’s genetic makeup to create a more personalized approach to healthcare

Telegenetics – emerging in response to a lack of available and accessible genetic services and professionals.

E.L.S.I. – ongoing concerns over issues such as confidentiality, informed consent, and discrimination.

The problem:

The public and providers, amongother stakeholders, are in need of genetic information and education.

Consider:

General trend in U.S. science achievement from 4th to 12th grade is downward. “… there is actually a steady decline, not a sudden drop, in performance as students progress through school…”

-American Institutes for Research, 2007

Excerpted from “The Genetics of Complex Traits”, Michael J. Dougherty, M.D.,

NCHPEG Presentation, 9/23/09http://www.nchpeg.org/annualmeeting.aspx?

sc=Meeting&sub=6

Genomics Education Training Needs of U.S. Health Educators

As genomics advances, scholars and the CDC have begun to call for U.S. health educators to develop their genomic competencies.

Findings: although the majority (78.3%) of health educators have received minimal or no genomic education, 81.0% acknowledge the importance of adding such training to their future professional development. Participants’ most frequently desired topics:

applied genetics/genomics (85.7%), basic genetics/genomics (42.9%), current and

future developments in genetics/genomics (28.6%), and genetic testing and screening (19.0%).

Genomics Education Training Needs of U.S. Health Educators: A (Qualitative) Pilot Study; Chen LS, Goodson P.

Informed Providers?

With the growing prevalence of direct-to-consumer genetic testing, and the increasing availability of pharmacogenomics tests, the need for increasing physician education in genetics has been recognized by health regulators, payers, and medical professional societies.

A survey of more than 10,000 doctors by Medco Health Solutions and the AMA (in 2010) reported that while most docs believe personal genomic information can be useful in their care for patients and help them make treatment decisions, the majority reported they do not know enough about such tests.

-From Genome Web: Myriad Defends Policy of Urging Docs to Genetically Counsel BRACAnalysis Customers, Turrna Ray February 10, 2010

CDC’s Genomic Competencies

Genomic Workforce Competencies forALL Public Health Workforce ALL Public Health Professionals Leaders/Administrators Clinicians Epidemiologists Health Educators Laboratorians Environmental Health Workers

Connecticut DPH Response:

DPH-Genomics Office (DPH-GO) mission:

To promote the responsible and effective translation

of current and emerging genome-based information

into health benefits for the population of Connecticut.

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DPH-GO Objectives:

~Foster collaboration within DPH and with local, regional, and national partners to further integrate genomics into public health programs.~Ensure that advances in genomics are implemented in a responsible way, with due consideration of their ethical, legal and social implications.~Engage and educate public health professionals, health care providers, policymakers, and the public about the role of genomics in health.~Assure availability of a competent workforce to deliver genetic services.~Assure access to, and appropriate use of, quality genetic services.

CT DPH Genomics Efforts:GoalsIncrease awareness of the importance of genomics and its relevance to public health.Integrate genomics into all public health policy and program development.

How Collaborative effort – across DPH program areas, and with

input from genomic experts and leaders in the field

Results Connecticut Genomics Action Plan An established Council of Genomics, and Genomics Office

(DPH-GO) External Expert Genomics Advisory Panel Genomics Office

Genomics Webpage on DPH website at http://www.ct.gov/dph

Includes: What’s New – Cancer Genomics Best Practices* Education & Training- HBOC & Lynch Patient Information Family Health History, and related links *handout Genomics Publications and Postings:

DTC Personal Genomics Services: Information to Consider Issue briefs on genetic testing –i.e. breast , colorectal cancers Understanding Genetics: A NE Guide for Patients and

Professionals An Overview of Alzheimer’s Disease Genetics Online genetics course on CT TRAIN for professors of

nursing Glossary of Common Genetic Terms, and more

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DPH Genomics Office

Survey/Surveillance Activities

Educational Activities

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DPH Response to Myriad Genetics’ 2007 Advertising Campaign

In September 2007, Myriad Genetics launched a public awareness campaign in CT, NY, and MA to reach women at increased risk of hereditary breast and ovarian cancer

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www.bracnow.com

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I. Follow-up assessment using BRFSS

 

II. Develop educational materials that temper Myriad’s message

DPH Genomics Office Initiatives

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What is BRFSS?

• Behavioral Risk Factor Surveillance System

• Largest ongoing state-based telephone health survey (since 1980s)

• Supported by the Centers for Disease Control and Prevention (CDC) and state health departments

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• Provide an ongoing assessment of adult health risk behaviors and health practices

• Provide state and regional estimates for targeting high-risk groups

What is the purpose of the BRFSS survey?

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Q1: How would you describe your overall knowledge about genetic testing for breast and ovarian cancer?

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10

20

30

40

50

60

70

80

None/Little Some A lot

Pe

rce

nt

Male

Female

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Q2: Have you seen or heard an advertisement about a genetic test to determine a woman’s risk for breast or ovarian cancer in the past 6 months?

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10

20

30

40

50

60

70

18-44 45-64 65+

Per

cent

Percent of Women who Answered ‘YES’ by Age Group

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Google “genetic testing breast cancer”

Look Here

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Genetic testing for hereditary breast and ovarian cancer: What you should know

Connecticut DPH-GO Resources

• Located at: http://www.ct.gov/dph/cwp/view.asp?a=3134&q=397344

• Contains:– Breast Cancer Statistics in CT– Genetic Testing for Breast & Ovarian Cancer: What You

Should Know– Family Health History page with links– New England Cancer Genetics Counselors– CT Breast and Cervical Cancer Early Detection

Program

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What role does public health have?

• Continue to educate consumers and policymakers about genetic/genomic testing

• Continue surveillance efforts

Recent Development: CDC Evidence Based Recommendations

New national guidelines have been established reflective of the increasing scientific evidence supporting the health benefits of using genetic tests and family health history to guide clinical assessments. *see handout

The recommendations, from independent panels on genetic testing based on thorough reviews of scientific evidence, include those for:

CDC Video: Cascade genetic screening and public health practice: an idea whose time has come (10/18/2012)

Hereditary breast and ovarian cancer (HBOC)The USPSTF recommends that women whose family history

is associated with an increased risk for deleterious mutations in BRCA1 or BRCA2 genes be referred for genetic counseling and evaluation for BRCA testing.

Lynch syndrome, also known as hereditary nonpolyposis colorectal cancer syndrome

The EGAPP™ Working Group found sufficient evidence to recommend offering genetic testing for Lynch syndrome to individuals with newly diagnosed colorectal cancer (CRC) to reduce morbidity and mortality in relatives.

Familial hypercholesterolemiaGenetic screening of first degree relatives for familial

hypercholesterolemia (FH) a main cause of premature heart disease, can reduce morbidity and mortality outcomes in relatives of affected people.

Tier 1 Evidence-based Recommendations* Handout

Why promote evidence-based guidelines for HBOC & Lynch syndromes?

“A substantial majority of primary care physicians are aware of BRCA testing and many report having ordered at least one test within the past year. Only a minority, however, appear to consistently recognize the family history patterns identified by the USPSTF as appropriate indications for BRCA evaluation.”

These results suggest the need to improve providers' knowledge about existing recommendations--particularly in this era of increased BRCA direct-to-consumer marketing.

Source: Am J Prev Med. 2011 Jan;40(1):61-6. Awareness and utilization of BRCA1/2 testing among U.S. primary care physicians. Bellcross CA, Kolor K, Goddard KA, Coates RJ, Reyes , M, Khoury MJ.

• In 2009, Connecticut had:• the second highest rate of female breast cancer;• the sixth highest rate of ovarian cancer; and• the sixth highest rate of uterine cancer in the U.S.

• Colorectal cancer is the third most common cancer and the second leading cause of cancer deaths in Connecticut.

Available from: http://statecancerprofiles.cancer.gov/. Accessed 09/05/2012.

Burden of Disease in Connecticut

Connecticut Rate (95% C.I.)138.9 (133.9 – 144.1)

Healthy People 2020 Genomic ObjectivesH.P. 2020 introduced genomics as a new topic area. It includes two objectives related to genetic counseling and testing for hereditary cancer syndromes.

• G – 1 Increase the proportion of women with a family history of breast and/or ovarian cancer who receive genetic counseling.

• G – 2 Increase the proportion of persons with newly diagnosed colorectal cancer who receive genetic testing to identify Lynch syndrome (or familial colorectal cancer syndrome).

Connecticut Healthy People 2020 Action Project 2012:

Promoting Cancer Genomics Best Practices

Collaborative effort involving the DPH Genomics Office,CT Tumor Registry, DPH Breast and Cervical Cancer and Colorectal Cancer Programs, and hospital Cancer Registrars

Goal: To increase healthcare providers’ awareness, knowledge, and adoption of evidence-based

recommendationsfor certain hereditary cancers, ultimately leading to

betterhealth outcomes.

Phase I: A surveillance reporting and education intervention for key hospital staff

Methodology:

I. Select staff at Connecticut’s 31 acute care hospitals were provided:

• Facility‐specific reports containing multi‐year Connecticut Tumor

Registry data on number of diagnosed cancers potentially associated with hereditary breast and ovarian cancer and Lynch syndromes

• Evidence‐based recommendations for genetic counseling and testing based on personal/family health history

• Resources – patient information sheets, genetic counselor contact listing

• Grand Rounds training on prevention and early detection of HBOC/Lynch, and appropriate use of genetic counseling and testing

- One Grand Rounds session recorded and posted on CT TRAIN.

Promoting Cancer Genomics Best Practices

New: Evidence-based best practices for hereditary cancers

Patient Materials

Patient information sheets developed for HBOC and Lynch syndromes, available in print and online, in English and Spanish.

• With the educational materials, each hospital was offered a Grand Rounds training session delivered by a cancer Certified Genetic Counselor on prevention and early detection of these cancers and the appropriate use of genetic counseling services and tests.

• Speakers Bureau composed of 4 cancer Certified Genetic Counselors - from the University of Connecticut Health Center and Yale Cancer Genetics Center

• 23 Presentations were provided at 21 hospitals (70% of hospitals reached)

• 331 participants completed a feedback survey

Grand Rounds Training Presentations

Goals:• Integrate into practice the evidence-based genetic testing

guidelines for Hereditary Breast and Ovarian Cancer and Lynch syndromes.

• Increase the number of families identified as at-risk for hereditary cancer.

  Learning Objectives:• Identify risk factors for hereditary breast, ovarian and colon cancer

syndromes.• Ascertain when to make referrals for genetic counseling and

testing.• Recognize the public health and clinical importance of identifying

individuals at high risk for hereditary cancer syndromes.

Grand Rounds Training Goals

Of the 331 respondents: • 90% plan to incorporate the information presented into

their work in one or more of the following ways:

• Will take a more detailed family health history

• Will update their patients’ family history regularly

• Will increase the use of routine screening and testing for Lynch syndrome

Grand Rounds Participant Feedback

• Additional presentation provided to Project Directors of clinics providing free/low-cost screenings for breast, cervical, and colorectal cancers.

• Online training:

Training presentation has been recorded and made available online via TRAIN CT at: https://ct.train.org

Beyond Grand Rounds

• 900+ Connecticut physicians in obstetrics/gynecology and gastroenterology* were sent evidence-based recommendations and educational materials, along with a decision-support slide tool.

*These doctors are considered the most likely to identify individuals with family histories of cancer who might benefit from genetic counseling and testing.

Phase 2:Broadening the Educational Campaign

Risk- assessment decision-support slide tool for HBOC and Lynch syndromes

Risk-assessment-decision-support slide tool for HBOC and Lynch syndromes

Question: Ranked Response:Ob/Gyn Gastroenterologist

Which guidelines do you follow 1. ACOG 1.Revised Bethesda

when referring patients for 2. Own clinical 2. Own clinical

genetic counseling and/ judgment judgment

or testing for (HBOC OR 3.USPSTF 3.Amsterdam II

Lynch) syndrome? 4. EGAPP

 

Recipient FeedbackRespondents: Gastroenterologists & Ob/Gyns

Question: Ob/Gyn & Gastroenterologists

Ranked Response:

How will you use the 1. To Identify appropriate patients to information and slide tool refer for cancer genetic counseling

in the “Cancer Genomics Best 2. Share with my patients and their

Practices” package? families

3. To identify appropriate patients to send for cancer genetic testing

4. Share with my staff (other physicians, physician assistants, nurses)

Recipient FeedbackRespondents: Gastroenterologists & Ob/Gyns

• Share notice of these resources with professional associations in CT.

• Pursue distribution to additional populations identified in surveys.

• Monitor outcomes of hospitals conducting retrospective studies

- and share results with other facilities.

• Produce hospital report on a biannual basis, with any updated recommendations and resources.

• Partner to reach providers of underserved populations.

• Explore alignment of payers’ policies with these national recommendations, assess if education effort is needed.

Next Steps

CONCLUSION: • “Despite widespread use of family histories for cancer

risk, barriers remain to appropriate cancer risk management among frontline healthcare clinicians. Development of educational training programs to assist clinicians with collection of cancer family history information, interpretation, and appropriate referral…of patients at genetic risk is warranted.”

Source: Sussner, K.M., L. Jandorf, and H.B. Valdimarsdottir. Educational needs about cancer family history and

genetic counseling for cancer risk among frontline healthcare clinicians in New York city. Genetics in Medicine, 2011 Sep;13(9):785-93.

Need for Education is Ongoing

My Semicolon Lifeby Brian Mansfield, USA TODAYInstallment 9/22/12: Tracing my family's cancer history

When USA TODAY's Nashville music critic Brian Mansfield was diagnosed with colon cancer at age 48, he figured that a lifetime of Southern-fried foods, extra-large sodas and stress eating on deadline had brought it on. Turned out he had a genetic syndrome [Lynch syndrome] that gave him an 80% chance of developing colon cancer.

Incorporating Genomics into your PH

Practice

Where to start?Use already existing programs and give them a genetics twist Blood Pressure Sundays incorporating Family

HistoryWhere there is a clear need, start alliances Chronic disease programs working

collaboratively to explore and promote the impact of heredity on health

When a problem presents itself, improvise e.g. Genetic testing by doctors who don’t have

genetics training…patients left without support…

Keep thinking about the long term implications and educate, educate, educate -S. Kardia, UM School of Public Health

How you can learn more….DPH Webpage/Genomics Office (DPH-GO)

http://www.ct.gov/dph/cwp/view.asp?a=3134&q=387814

CDC National Office of Public Health Genomics

http://www.cdc.gov/genomics/default.htm

APHA – Genomics Forum

http://genomicsforum.org/

Centers for Genomics & Public Health

http://www.sph.umich.edu/genomics

http://depts.washington.edu/cgph

National Coalition for Health Professional Education in Genetics http://www.nchpeg.org

National Human Genome Research Institute

http://www.genome.gov/genomicCareers/

US Surgeon General’s Family History Initiative

http://www.hhs.gov/familyhistory

NEGC: www.negenetics.org/

N.E.R.G.G., Inc: www.nergg.org

Thank You.

For more information, contact:

Beverly Burke

Genomics Office Coordinator

860 509-7122

Regional Genomics Collaborations

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GEMSS – A new resource - Genetics Education Materials for School Success

GEMSS are tools for schools, explaining genetic conditions and offering helpful strategies for use in classrooms – such as ideas for emergencies, field trips, diets, communication, instruction, and more.

The aim of GEMSS is to help assure all children with genetic health conditions succeed in school-life. 

GEMSS Genetics Education Materials for School Success

• Children who have genetic conditions are members of neighborhood schools across the country. It is estimated that about 1 in 20 children have a genetic condition.  

• Included are genetic conditions such as 22q Deletion Syndrome, Down Syndrome, Fragile X, MCAD, PKU,

Sickle Cell Disease, VLCAD, and Williams Syndrome, with more conditions being added.

How GEMSS might help

Six important areas of school life are addressed:

• Medical / Dietary Needs• Education Supports• Behavior & Sensory Supports•   Physical Activity,• Trips, Events• School Absences & Fatigue• Emergency Planning  

Pages can be printed for easy sharing.

Located at: www.gemssforschools.org