Title: EMBRACING CHANGE: SOCIETAL AND WORKPLACE IMPLICATIONS OF THE HUMAN GENOME PROJECT
1EMBRACING 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
2What We Will Consider
- The old genetics
- The new genetics - genomics
- Genomic medicine
- Implications for industrial hygiene
- Implications for society
3The 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
4The 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
5gt 9 of the 10 Leading Causes of Mortality Have
Genetic Components
- 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)
6Genomic 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
7Genomic 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
8Genomic 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
9Genomic Medicine
10Genomic Medicine
- Will change healthcare by... creating a
fundamental understanding of the etiology of many
diseases, even non-genetic ones
11Genomic Medicine
- Will change healthcare by...
- providing knowledge of individual genetic
predispositions via microarray and other
technologies
12Genomic Medicine
- Knowledge of individual genetic predispositions
will allow
13Genomic Medicine
- Knowledge of individual genetic predispositions
will allow - Individualized screening, e.g., mammography
schedule
14Genomic Medicine
- Knowledge of individual genetic predispositions
will allow - Individualized screening
- Individualized behavior changes, e.g., informed
lifestyle choices
15Genomic Medicine
- Knowledge of individual genetic predispositions
will allow - Individualized screening,
- Individualized behavior changes
- Presymptomatic medical therapies, e.g.,
antihypertensive agents before hypertension
develops
16Genomic Medicine
- Will change healthcare by...
- providing knowledge of individual genetic
predispositions - creating pharmacogenomics including
individualized medications
17Genomic Medicine
- Will change healthcare by...
- providing better understanding of non-genetic
(environmental) factors in health and disease
18Genomic Medicine
- Will change healthcare by...
- providing better understanding of non-genetic
(environmental) factors in health and disease - emphasizing health maintenance rather than
disease treatment
19Implications for Industrial Hygiene
- Workplace safety
- Research
20Implications for Industrial Hygiene
- Workplace safety
- understanding workplace risk to the individual
will become - technically more feasible
- ethically more worrisome
21Implications 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
22Implications for Industrial Hygiene
- Workplace safety the interplay of genes and
environment - e.g., asthma
23Implications for Industrial Hygiene
- Research
- environment-gene interaction studies
- public policy studies
24Some 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
25Some 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
26Some Implications for Society
- What is the appropriate informed consent process
for genetic testing? - risk vs. benefit
- Whose risk and whose benefit?
27Implications for Industrial Hygiene and Society
28Burlington 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)
29Burlington 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
30Burlington 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?
31Burlington 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
32Burlington 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
33Burlington 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?
34Burlington Northern Santa Fe
- Bad science?
- Bad social policy?
35Burlington Northern Santa Fe
- The resolution BNSF
- ceased the testing
- promised not to use other genetic testing without
unions OK - volunteered to help pass legislation to limit
employers use of genetic testing
36Executive Summary (they like these in DC)
37Executive 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?
38Executive 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