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

1. 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

2. What We Will Consider • The “old genetics” • The “new genetics” - genomics • Genomic medicine • Implications for industrial hygiene • Implications for society

3. 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

4. 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

5. > 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%)

6. 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

7. 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

8. 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

9. Genomic Medicine • Will change healthcare

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

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

12. Genomic Medicine • Knowledge of individual genetic predispositions will allow:

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

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

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

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

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

18. 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

19. Implications for Industrial Hygiene • Workplace safety • Research

20. Implications for Industrial Hygiene • Workplace safety • understanding workplace risk to the individual will become • technically more feasible • ethically more worrisome

21. 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

22. Implications for Industrial Hygiene • Workplace safety – the interplay of genes and environment • e.g., asthma

23. Implications for Industrial Hygiene • Research • environment-gene interaction studies • public policy studies

24. 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

25. 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

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

27. Implications for Industrial Hygiene and Society • A recent example…

28. 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)

29. 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

30. 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?

31. 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

32. 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

33. 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?

34. Burlington Northern Santa Fe • Bad science? • Bad social policy?

35. 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

36. Executive Summary (they like these in DC)

37. 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?

38. 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