POLICY DILEMMAS IN GENOMICS AND INTERNATIONAL HEALTH POLICY Elettra Ronchi, PhD [email protected].

POLICY DILEMMAS IN GENOMICS AND INTERNATIONAL HEALTH POLICY

Elettra Ronchi, [email protected]

disclaimer

Views expressed are those of the speaker and do not necessarily reflect the views of the OECD or its Member countries.

One year after the completion of the Human Genome Project

• GeneTests: April 2004• Total Laboratories

598• United States

412(69%)• Clinical 247 (60%)• Research 165 (40%)• Non US 186(31%)

• Diseases listed 694• Testing available

from 1 lab 308 (44%)• Testing available

from 2-5 labs 224 (32%)

PHILOSOPHY OF TESTING

• Single gene diseases

• Polygenic Diseases

• Predisposition

• Pharmacogenetics

• (Wellbeing/Lifestyle)

WHAT WILL THE INFORMATION GAINED FROM TESTING MEAN?

WILL IT BE OF SUFFICIENT QUALITY AND IN A FORM UNDERSTANDABLE AND COMPREHENSIVE ENOUGH TO MAKE CHOICES?

HOW TO HANDLE THE PROLIFERATION OF GENETIC CHOICE?

WHO WILL GAIN ACCESS TO THE INFORMATION?

PUBLIC UNEASE

•What policies are needed to safeguard quality and equitable access?

•What are major ethical legal and social issues?

•What are the likely economic consequences of a rapid expansion of genetic testing?

•What are current incentives and barriers to diffusion ofnovel genetic tests?

TRANSLATING PUBLIC UNEASE INTO CONSTRUCTIVE DIALOGUE AND PUBLIC POLICY

Allocation of resources

Equity

Access

Who will pay, who will benefit? What will be the price exacted from other sectors of health care?

What will be the impact on current national health careservices?

Will gene-based therapies and new diagnostic tools be priced out of reach?

A survey conducted in 1999 at the request of the UK Department of Health to gather data for the Working Group on Laboratory Services in Genetics reported that a total of 34 disorders for which it would be possible to offer a clinically valid tests were listed as not available to clinical users in the UK.

Are approaches fordealing with advances in genetic testing appropriate and compatible across countries?

Genetic Laboratories in the OECD area act under no specific common requirement

1-Clinical genetic laboratories across OECD countries act under different norms and conditions. For example requirements vary on:•accreditation of genetic laboratories•proficiency testing•supervision and involvement of trained scientific or medicaldirectors

2- Genetic testing carried out in research centres (grey area) raise specific issues, particularly as they relate to:•home made tests•tests for rare diseases

NEED FOR INTERNATIONAL CO-OPERATION

Establishment of Guidelines on General Principles

Establishment and support of disease specific laboratory consortia

Testing for rare diseases

Best Practices to ensure high rate of compliance

WHAT EVIDENCE DO WE HAVE?

INFORMATION NEEDS

1- WHO’S DOING WHAT, WHERE AND HOW

•where is genetic testing being done•what tests are being performed•who is directing the laboratories•who is performing the analyses•how many tests are being done•what are the sources of the reagents•what are the QA and QC measures observed•how are counseling, consent and confidentiality addressed

STUDY POPULATION

• Potential directors were identified by the country experts

• Accomplished by contact with professional organizations and other resources

• Final number of potential directors was 1,258• Overall response rate of 65% (n=827)

PHILOSOPHY OF TESTING

• Single gene diseases

• Polygenic Diseases

• Predisposition

• Pharmacogenetics

• (Wellbeing/Lifestyle)

Pharmacogenetics

Pharmacogenetics is the study of the impact of heritable traits on pharmacology (pharmacokinetics and pharmacodynamics) and toxicology. An extension of pharmacogenetics is pharmacogenomics, which is based on the discovery that genetic polymorphisms have the potential to affect a drug’s mechanism, including its efficacy. One potential application of pharmacogenomics is drug development.

THE NEW FRONTIERTHE NEW FRONTIER

ArthritisArthritisHypertensionHypertensionArteriosclerosisArteriosclerosisDiabetesDiabetesNeurological conditionsNeurological conditionsCardiovascular ConditionsCardiovascular ConditionsCancerCancerBronchitisBronchitisEmphysemaEmphysema

“New therapies will be developed with genetic or phenotypic tests that can identify an appropriate treatment population and detect patients who need different doses or are prone to certain toxic effects”

- Dr. McClellan, FDA Commissioner, in Washington Drug Letter, April 13, 2003

« The central issue is not whether pharmacogenetic or pharmacogenomic-guided drug prescriptions will happen, but when and how »

(US-FDA 2003)

October 2004 PubMed Count 2381

Variability in Drug Toxicity: Attributable to Pharmacogenetics?

• 28% of hospitalized patients have drug-related ADRs…Miller et al, Am. J. Hosp. Pharm 30, 584, 1973

• 17% of hospitalized children have drug-related ADRs…Mitchell et al, Am. J. Epid. 110, 196, 1979

• Overall incidence of drug-related ADRs is 7%…Lazarou et al, JAMA, 279, 1200, 1998

• Cost of drug-related morbidity and mortality is $177 billion…Ernst et al, J. Am. Pharm. Assoc., 41, 192, 2001

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Timeline of Database Search (month-year)

Database Search for Genotyping and Phenotyping in INDs and NDAs

Wendy Chou, Ph.D. and Others OCPB, FDA (ASCPT Poster, Thursday, April 3, 2003)

..DNA banking for medical and research purposes hasbecome indispensable…

EUROGAPP Project 1999-2000

Security has many dimensions: the special challenge (in the health sector ) is to keep data sequestered and protectits integrity, but at the same time to keep it accessible forauthorised users who have legitimate need to use it.

“Privacy and Health Research”1997 report to the US Secretary of Health and Human Services

•Long-term storage of samples?•Data subject identifiability•Data subject consent•Individual vs community consent•Scopes and limitation of use of data•Rights of data subjects•Obligations of data holders•Linkage of/across databases and biological samples•Public health use of data•Public security use of data•Commercial use of data•Applicability of privacy laws to private sector•Transfer, secondary use and sharing of data

ISSUES TO ADDRESS : GOVERNANCE AND MANAGEMENTOf SAMPLES AND DATA