Transcript The “New Genetics”: What Is It And Why Do We Care?

EMBRACING CHANGE:
SOCIETAL AND WORKPLACE
IMPLICATIONS OF THE HUMAN
GENOME PROJECT
June 6, 2001
New Orleans
AIHCE
Alan E. Guttmacher, M.D.
Senior Clinical Advisor to the Director
National Human Genome Research Institute
National Institutes of Health
What We Will Consider
• The “old genetics”
• The “new genetics” - genomics
• Genomic medicine
• Implications for industrial
hygiene
• Implications for society
The “Old Genetics”
• Involves conditions wholly caused by:
– An extra or missing complete
chromosome or part of a chromosome
• e.g., Down syndrome
– A mutation in a single gene
• e.g., cystic fibrosis, Marfan syndrome,
alpha1-antitrypsin deficiency, sickle cell
disease
The “Old Genetics”
• These conditions
–Are of great importance to
individuals and families with them
–But, are relatively rare
–Most people not directly affected
–Thus, genetics played small role
in healthcare, industrial hygiene
and society
> 9 of the 10 Leading Causes of Mortality
Have Genetic Components
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1. Heart disease (31.0% of deaths in ‘98)
2. Cancer (23.2%)
3. Stroke (6.8%)
4. COPD (4.8%)
5. Injury (4.2%)
6. Pneumonia/Influenza (3.9%)
7. Diabetes (2.8%)
8. Suicide (1.3%)
9. Kidney disease (1.1%)
10. Chronic liver disease (1.1%)
Genomic Medicine
• About conditions partly:
–Caused by mutation(s) in gene(s)
• e.g., colon cancer, breast cancer,
atherosclerosis, inflammatory bowel
disease, diabetes, Alzheimer disease,
mood disorders, many others
Genomic Medicine
• About conditions partly:
–Caused by mutation(s) in gene(s)
• e.g., colon cancer, breast cancer,
atherosclerosis, inflammatory bowel
disease, diabetes, Alzheimer disease,
mood disorders, many others
–Prevented by mutation(s) in gene(s)
• e.g., HIV (CCR5), ?atherosclerosis,
?cancers, ?diabetes, many others
Genomic Medicine
• These conditions
–Are also of great importance to
individuals and families with them
–But are quite common
–Directly affect virtually everyone
–Will make genetics play large role
in healthcare, industrial hygiene,
and society
Genomic Medicine
• Will change healthcare
Genomic Medicine
• Will change healthcare by...
creating a fundamental
understanding of the etiology of
many diseases, even “nongenetic” ones
Genomic Medicine
• Will change healthcare by...
–providing knowledge of individual
genetic predispositions via
microarray and other technologies
Genomic Medicine
• Knowledge of individual genetic
predispositions will allow:
Genomic Medicine
• Knowledge of individual genetic
predispositions will allow:
– Individualized screening, e.g.,
mammography schedule
Genomic Medicine
• Knowledge of individual genetic
predispositions will allow:
– Individualized screening
– Individualized behavior changes, e.g.,
informed lifestyle choices
Genomic Medicine
• Knowledge of individual genetic
predispositions will allow:
– Individualized screening,
– Individualized behavior changes
– Presymptomatic medical therapies,
e.g., antihypertensive agents before
hypertension develops
Genomic Medicine
• Will change healthcare by...
–providing knowledge of individual
genetic predispositions
–creating pharmacogenomics –
including individualized
medications
Genomic Medicine
• Will change healthcare by...
–providing better understanding of
non-genetic (environmental)
factors in health and disease
Genomic Medicine
• Will change healthcare by...
–providing better understanding of
non-genetic (environmental)
factors in health and disease
–emphasizing health maintenance
rather than disease treatment
Implications for Industrial
Hygiene
• Workplace safety
• Research
Implications for Industrial
Hygiene
• Workplace safety
–understanding workplace risk to
the individual will become
• technically more feasible
• ethically more worrisome
Implications for Industrial
Hygiene
• Workplace safety
–understanding workplace risk to
the individual will become
• technically more feasible
• ethically more worrisome
–you will have role helping
manage individual genetic risk, as
you already help manage other
risk
Implications for Industrial
Hygiene
• Workplace safety – the interplay
of genes and environment
–e.g., asthma
Implications for Industrial
Hygiene
• Research
–environment-gene interaction
studies
–public policy studies
Some Implications for
Society
• May include characteristics
that most do not see as
“diseases” and many do not
see as innate
– e.g., intelligence, alcoholism,
violence
Some Implications for
Society
• Showing that we are all mutants
• Genetic stratification, e.g., in
employment or marriage
• Confidentiality/privacy
• Patenting and licensing
• Right not to know and not to act
Some Implications for
Society
• What is the appropriate
informed consent process for
genetic testing?
–risk vs. benefit
• Whose risk and whose benefit?
Implications for Industrial Hygiene
and Society
• A recent example…
Burlington Northern Santa Fe
• Demanded that employees
applying for workers’ comp for
carpal tunnel syndrome undergo
genetic testing to determine
whether they had mutation in
the gene causing hereditary
neuropathy with liability to
pressure palsies (HNPP)
Burlington Northern Santa Fe
• The science includes:
–those with mutations have higher
risk for carpal tunnel syndrome
–however, the magnitude of their
risk not yet known
–and such mutations are relatively
rare, but carpel tunnel syndrome
is common
Burlington Northern Santa Fe
• The social issues include:
–where do responsibilities of
employer and of individual re.
causation lie – especially if it is
an innate quality of the employee
that puts him or her at increased
risk?
Burlington Northern Santa Fe
• The social issues include:
–does an employer have the right
to demand that employees learn
medical information they may not
want to know – and that may
have implications for other family
members as well
Burlington Northern Santa Fe
• The social issues include:
–will genetic information gathered
by employer influence hiring,
retention or promotion
–will such information be shared
with health, life or disability
insurers or others
Burlington Northern Santa Fe
• The social issues include:
–what if the genetic information
has a social stigma – who in the
workplace will know it?
–what if the genetic variation of
interest is more common in
certain “ethnic” groups?
Burlington Northern Santa Fe
• Bad science?
• Bad social policy?
Burlington Northern Santa Fe
• The resolution – BNSF:
–ceased the testing
–promised not to use other genetic
testing without union’s OK
–volunteered to help pass
legislation to limit employer’s use
of genetic testing
Executive Summary (they like
these in DC)
Executive Summary
• Why are the Human Genome
Project and the resultant
genomic medicine important
for healthcare, for industrial
hygiene and for society in the
new millennium?
Executive Summary
“It is now conceivable that our
children's children will know the
term cancer only as a
constellation of stars.”
– President Clinton at the White
House, June 26, 2000 announcing
the completion of the human
genome draft sequence