EMBRACING CHANGE: SOCIETAL AND WORKPLACE IMPLICATIONS OF THE HUMAN GENOME PROJECT

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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

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What We Will Consider

• The old genetics
• The new genetics - genomics
• Genomic medicine
• Implications for industrial hygiene
• Implications for society

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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

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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

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gt 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)

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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

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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

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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

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Genomic Medicine

• Will change healthcare

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Genomic Medicine

• Will change healthcare by... creating a
  fundamental understanding of the etiology of many
  diseases, even non-genetic ones

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Genomic Medicine

• Will change healthcare by...
• providing knowledge of individual genetic
  predispositions via microarray and other
  technologies

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Genomic Medicine

• Knowledge of individual genetic predispositions
  will allow

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Genomic Medicine

• Knowledge of individual genetic predispositions
  will allow
• Individualized screening, e.g., mammography
  schedule

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Genomic Medicine

• Knowledge of individual genetic predispositions
  will allow
• Individualized screening
• Individualized behavior changes, e.g., informed
  lifestyle choices

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Genomic Medicine

• Knowledge of individual genetic predispositions
  will allow
• Individualized screening,
• Individualized behavior changes
• Presymptomatic medical therapies, e.g.,
  antihypertensive agents before hypertension
  develops

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Genomic Medicine

• Will change healthcare by...
• providing knowledge of individual genetic
  predispositions
• creating pharmacogenomics including
  individualized medications

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Genomic Medicine

• Will change healthcare by...
• providing better understanding of non-genetic
  (environmental) factors in health and disease

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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

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Implications for Industrial Hygiene

• Workplace safety
• Research

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Implications for Industrial Hygiene

• Workplace safety
• understanding workplace risk to the individual
  will become
• technically more feasible
• ethically more worrisome

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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

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Implications for Industrial Hygiene

• Workplace safety the interplay of genes and
  environment
• e.g., asthma

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Implications for Industrial Hygiene

• Research
• environment-gene interaction studies
• public policy studies

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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

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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

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Some Implications for Society

• What is the appropriate informed consent process
  for genetic testing?
• risk vs. benefit
• Whose risk and whose benefit?

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Implications for Industrial Hygiene and Society

• A recent example

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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)

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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

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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?

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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

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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

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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?

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Burlington Northern Santa Fe

• Bad science?
• Bad social policy?

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Burlington 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

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Executive Summary (they like these in DC)
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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?

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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