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Transcript
POLICY DILEMMAS IN GENOMICS AND
INTERNATIONAL HEALTH POLICY
Elettra Ronchi, PhD
[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 25 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
TRANSLATING PUBLIC UNEASE INTO CONSTRUCTIVE
DIALOGUE AND PUBLIC POLICY
•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 of
novel genetic tests?
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 care
services?
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 medical
directors
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 FRONTIER
Arthritis
Hypertension
Arteriosclerosis
Diabetes
Neurological conditions
Cardiovascular Conditions
Cancer
Bronchitis
Emphysema
“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 pharmacogenomicguided 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
Database Search for Genotyping and
Phenotyping in INDs and NDAs
Total Number
Found in Database
70
70
60
50
40
30
20
10
0
57
52
44
12
5
9-2001
1-2002
2-2002
5-2002
6-2002
8-2002
Timeline of Database Search (month-year)
Wendy Chou, Ph.D. and Others OCPB, FDA (ASCPT Poster, Thursday, April 3, 2003)
..DNA banking for medical and research purposes has
become indispensable…
EUROGAPP Project 1999-2000
Security has many dimensions: the special challenge
(in the health sector ) is to keep data sequestered and protect
its integrity, but at the same time to keep it accessible for
authorised users who have legitimate need to use it.
“Privacy and Health Research”
1997 report to the US Secretary of Health and Human Services
ISSUES TO ADDRESS : GOVERNANCE AND MANAGEMENT
Of SAMPLES AND DATA
•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