Quality Assurance of GeneticQuality Assurance of GeneticTesting ServicesTesting Services

- - Proposal from Japan and ISO Perspectives -Proposal from Japan and ISO Perspectives -

Tadashi Kawai, MD, PhDInternational Clinical Pathology Center Tokyo,

Japan; tkawai@gakushikai.jp

International Symposium, Kitasato University, 2008/3/16

Tadashi Kawai, 2008

Three major issues onprovision of quality genetic testing services

1. Ethical, legal and social issues (ELSI)・Careful consideration should be given that test results

will influence not only to the individual concerned,but also his/her relatives and children

・Privacy related to test results should be protected

2. Clinical practice issues・Pre- and post-examination counseling of the individuals

concerned must be under a medical geneticist or itsequivalent specialist

・Clinical practice should respect adequate national/international guidelines, when available

3．Quality issues in genetics laboratory

・Quality management system and technical competence

Tadashi Kawai, 2008

Principal guidelines on genetic researches andclinical services in Japan(1)

Governmental: (http://www2.ncc.go.jp/elsi/)

・Guideline for research on the human genome and genes, 2001issued by Ministry of Education, Culture, Sports, Science andTechnology (MEXT), Ministry of Health, Labour and Welfare(MHLW)＆Ministry of Economy, Trade and Industry (METI)

Commercial/business-oriented:

・Ethical principle for providing genetic testing in referral labs,issued by the Japan Registered Clinical LaboratoriesAssociation 2001, revised 2007 (http://www.jrcla.or.jp/)

・Principle (final draft) for non-medical facility providing geneticinformation, issued by the Japan Council for Protection ofIndividual Genetic Information, 2008

Tadashi Kawai, 2008

Principal guidelines on genetic researches andclinical services in Japan (2)

Academic:

・Guideline for genetic testing, issued co-jointly by 10 societies,　2003, available in both Japanese and English (www.jshg.jp/)

Japan (or Japanese) Society of (or for):

Human Genetics, Genetic Counseling, Familial Tumor, Obstetrics and Gynecology, Pediatric Genetics, Gene Diagnosis and Therapy, Teratology, InheritedMetabolic Diseases, Mass Screening, and LaboratoryMedicine

Tadashi Kawai, 2008

Guideline for Genetic Testingby 10 academic societies in Japan, 2003

Preface

I. Scope

II. Practice of genetic testing

III. Disclosure of genetic test results

IV. Genetic testing and genetic counseling

V. Important points concerning genetic testing for specificindividuals

In conclusion

Proposals (to the authority, academic society, medical facility, clinicianand medical professional, and public)

References

Terms and definitions (21 terms listed)

Tadashi Kawai, 2008

Activities related to standardization inmolecular genetic testing in Japan

・Various academic societies in different disciplines of　laboratory medicine, not harmonized among each other

・Technical committees in the Japan Bioindustry Association,1999 ～ 2006, partly under the auspices of the government

・Proposal to ISO/TC212 on quality and competence in genetic　testing, 2005～, Jp National Committee for ISO/TC212

・EU/Eurogentest Project, 2005～

・OECD recommendation on quality assurance in moleculargenetic testing, 2007

・ JCCLS/Technical committee on gene-related testing, 2007～　2009, under the auspices of the Ministry (METI)

Tadashi Kawai, 2008

ISO/TC212, Clinical laboratory testing andin vitro diagnostic test systems (1)

・Established in 1995, ＠Secretariat: ANSI/CLSI(USA)

・Four working groups:

WG1: Quality and competence in the medical laboratoryWG2: Reference systemsWG3: In vitro diagnostic products 　　　　　　　　　　　　　　WG4:Antimicrobial susceptibility testing

・ISO 15189, Medical laboratories ‒ Particular requirementsfor quality and competence, 1st ed. (2003), 2nd ed.(2007)

Foreword

Introduction

1 Scope

2 Normative references

3 Terms and definitions

4 Management requirements

5 Technical requirements

Annex A (informative), Annex B (informative),Annex C (informative): Ethics in laboratory medicine, Bibliography

Tadashi Kawai, 2008

ISO 15189:2007, Medical laboratories ‒ Particularrequirements for quality and competence

Based on ISO/IEC 17025 :General requirements fortesting and calibrationlaboratories, and ISO 9001

Tadashi Kawai, 2008

ISO 15189:2007

1 Scope

1.1 This International Standard specifies requirements forquality and competence particular to medicallaboratories.

1.2 This International Standard is for use by medicallaboratories in developing their quality managementsystems and assessing their own competence, and foruse by accreditation bodies in confirming or recognizingthe competence of medical laboratories.

・No mention whatsoever about “genetic testing” in the　International Standard, but not excluded it.

Tadashi Kawai, 2008Tadashi Kawai, 2008

ISO/TC212, Clinical laboratory testing andin vitro diagnostic test systems (2)

・Responses in ISO/TC212 to the new proposal from Japan

．Common understanding that ISO/TC212 cannot be abystander on quality issue of “genetic testing”

・Some P-members in favor, while others in reluctance at　the current circumstance

•ILAC (accreditation bodies) - unnecessary

・Postponed to its decision until an OECD guideline orEurogentest project recommendation be out

・Established in WG1 the genetic testing project group torecommend further action on the Japanese proposal and OECDguideline until June 2008 in the next ISO/TC212 meeting

Tadashi Kawai, 2008

Recommendation to ISO/TC212 by the genetictesting project group (Leader: Dr. Joe Boone)

・ISO premise to avoid any ethical/social issue

・No stand-alone standard needed on “quality and competence　in genetic testing”, although guideline(s) could be produced,if necessary

・Some amendments in the existing edition of ISO 15189 to berecommended

•Definition of “genetic testing” still under discussion

•Some corrections or additions in: 3Terms and Definition ‒ medical/clinical laboratory

4 Management and 5 Technical Requirements,Annex C (Ethics in laboratory medicine)

Tadashi Kawai, 2008

Harmonization on molecular genetic testingby JCCLS/METI

・OECD guideline accepted in principle, but its feasibility to beevaluated for further actions in Japan

・JCCLS established under the auspices of the Ministry (METI)the Technical Committee on genetic testing in 2006,represented by many academic societies and organizations

・The aim of the Committee is to produce a nationally acceptedbest-practice guideline, which shall be harmonized globally, orbased on OECD recommendation

・The scope is to include entirely the clinical laboratory tests,using molecular biotechnology ‒ diagnostic, screening, or others

Com on Gene-Related Testing

・What will be the title of the Committee , then?

Tadashi Kawai, 2008

Confusion in Terminology　in Japan

遺伝子検査

“Gene”Testing

Pathogens Human bodies

Somatic cells Germ-line cells

Nucleic acid testing Gene-based testing Genetic testing

核酸検査 遺伝子検査 遺伝学的検査

・Researchers and investigators tend to use the term “gene”　testing, believing by themselves that they have been doing　something new and “special”.

Tadashi Kawai, 2008

Current status in harmonization on gene-related testing in Japan (1)

・No consensus on terminology, yet

・Personnel requirements and certifications, available onclinical geneticist(MD) and 3 kinds of technical scientists forchromosome and/or genetic testing(clin. cytogeneticist, etc.)

・Standard operating procedures for chromosome and geneticanalyses, available only on a few test items by variousacademic societies nationally and also internationally(CLSI, etc.)

・Standards for reporting of the test results, recommended bynational (JSHG) and international societies/organizations

・In vitro diagnostic medical devices: regulated by the authority 　inJapan, and also internationally (GHTF, etc.)

Tadashi Kawai, 2008

Current status of molecular gene-related testingin Japan (2)

・Protection of personal genetic information by both the Medical　Practice Law, and the Act on the Protection of PersonalInformation(2003)

・Clinical laboratories ‒ will be accredited voluntarily by ISO Std

・Proficiency testing or external quality assessment scheme:not available on molecular genetic tests, but some on nucleicacid tests for various important micro-organisms and a fewgene-based tests

・Medical insurance policy: mostly on pathogenic micro-organisms, and also a few neoplastic and genetic diseases

・Direct-to-consumer service: will be voluntarily controlled bythe Council for Protection of Individual Genetic Information

Tadashi Kawai, 2008