1. © 2005 Prentice Hall Inc. / A Pearson Education Company / Upper Saddle River, New Jersey 07458 Chapter 20 Ethical issues of genomics The ethical and social implications of the genomics revolution

2. © 2005 Prentice Hall Inc. / A Pearson Education Company / Upper Saddle River, New Jersey 07458 Contents I  Introduction  Ethics Law and Social Implications (ELSI)  Information in genome  Potential misuse of genomic information  Safeguards

3. © 2005 Prentice Hall Inc. / A Pearson Education Company / Upper Saddle River, New Jersey 07458 Contents II  Genetic testing  Genomic sampling  Genetic counseling  Genetic modification of humans  Genetic modification of plants and animals  The role of scientists in public policy

4. © 2005 Prentice Hall Inc. / A Pearson Education Company / Upper Saddle River, New Jersey 07458 Introduction  Major scientific advances raise ethical and social concerns  Normally, scientists do not initiate discussions  e.g., Nuclear energy  Exception: recombinant- DNA technology

5. © 2005 Prentice Hall Inc. / A Pearson Education Company / Upper Saddle River, New Jersey 07458 Genomics and ELSI  Genomics: first major research program to allocate budget to ethical, legal, and social implications (ELSI)  Watson proposed 3–5% of HGP budget for ELSI  ELSI programs at NIHGRI and DOE  Criticism: stifling criticism by buying critics

6. © 2005 Prentice Hall Inc. / A Pearson Education Company / Upper Saddle River, New Jersey 07458 NIH ELSI mandate I  To examine the issues surrounding the completion of the human DNA sequence and the study of human genetic variation  To examine issues raised by the integration of genetic technologies and information into health care and public health activities  To examine issues raised by the integration of knowledge about genomics and gene–environment interactions into nonclinical settings

7. © 2005 Prentice Hall Inc. / A Pearson Education Company / Upper Saddle River, New Jersey 07458 NIH ELSI mandate II  To explore ways in which new genetic knowledge may interact with a variety of philosophical, theological, and ethical perspectives  To explore how socioeconomic factors and concepts of race and ethnicity influence the use and interpretation of genetic information, the utilization of genetic services, and the development of policy

8. © 2005 Prentice Hall Inc. / A Pearson Education Company / Upper Saddle River, New Jersey 07458 ELSI programs  Research into how applications of genomics are perceived and received  Basis for genetic nondiscrimination laws  Training of judges in genetics and genomics

9. © 2005 Prentice Hall Inc. / A Pearson Education Company / Upper Saddle River, New Jersey 07458 Major issues raised by genomics  Privacy of information  Privacy of biological samples  Genetic testing  Genetic modification

10. © 2005 Prentice Hall Inc. / A Pearson Education Company / Upper Saddle River, New Jersey 07458 Information in genome  Genetic information as privacy issue  Individual’s genome provides information on the following:  Disease susceptibility  Longevity  Behavioral traits  How genes contribute to complex traits is still unknown

11. © 2005 Prentice Hall Inc. / A Pearson Education Company / Upper Saddle River, New Jersey 07458 Utility of genomic information  Information of potential use to the following entities:  Insurance companies  Risk assessment  Employers  Medical insurance premiums  Behavior  Government  Military

12. © 2005 Prentice Hall Inc. / A Pearson Education Company / Upper Saddle River, New Jersey 07458 Discrimination based on genotype  Insurance companies  Refuse coverage  Employers  Hire and fire based on genetic makeup  Government  Genomic profile of criminal behavior

13. © 2005 Prentice Hall Inc. / A Pearson Education Company / Upper Saddle River, New Jersey 07458 Other misuses of genomic information  Limiting access to financial resources  e.g., mortgages  Limiting access to education  e.g., child with familial hypercholesterolemia  Should the child be denied admission to college?  Should the child be given financial aid?

14. © 2005 Prentice Hall Inc. / A Pearson Education Company / Upper Saddle River, New Jersey 07458 Genetic discrimination  Woman diagnosed as deficient in  -a- antitrypsin  Predisposes to lung diseases  No symptoms  Dismissed from job because could require expensive medication  Successfully sued employer

15. © 2005 Prentice Hall Inc. / A Pearson Education Company / Upper Saddle River, New Jersey 07458 Is genomic information different from other medical information?  Debate: Is genomic information different from other medical information?  Is it similar to cholesterol levels or blood pressure?  Decisions already based on health and genetic information  Pilots required to have 20/20 vision  What differences are permissible to judge individual on?

16. © 2005 Prentice Hall Inc. / A Pearson Education Company / Upper Saddle River, New Jersey 07458 How genomic information differs from other medical information  Provides information about disease susceptibilities  “Future diary”  Information resides in DNA molecules themselves  Argument for special safeguards

17. © 2005 Prentice Hall Inc. / A Pearson Education Company / Upper Saddle River, New Jersey 07458 Right to privacy  Importance of individual freedom in U.S. laws  “Right to be left alone”  Strengthen existing laws  Protection of medical confidentiality  Informed consent  Regulation of medical records  Comprehensive genetic privacy laws  Individual has control over personal DNA samples and information extracted from them

18. © 2005 Prentice Hall Inc. / A Pearson Education Company / Upper Saddle River, New Jersey 07458 Genetic rights  Right to determine whether and when one’s DNA samples are collected, stored, or analyzed  Right to determine who has access to one’s DNA samples  Right to access one’s own genetic information  Right to determine who has access to one’s genetic information  Right to information for informed decision making

19. © 2005 Prentice Hall Inc. / A Pearson Education Company / Upper Saddle River, New Jersey 07458 Legal safeguards  Genetic nondiscrimination laws  Passed in more than 40 states  Need laws about release of samples that contain DNA  Tissue or blood samples contain equivalent of medical records  Potential problems  Linking of DNA and tissue to medical records  Informed consent  Ownership

20. © 2005 Prentice Hall Inc. / A Pearson Education Company / Upper Saddle River, New Jersey 07458 Genomic-sampling issues  Tissue and DNA banks proliferating  Gold mines of information  Companies formed to collect DNA samples  Example: deCODE Genetics  Ethical issues  Informed consent  Profiting from information from specific populations

21. © 2005 Prentice Hall Inc. / A Pearson Education Company / Upper Saddle River, New Jersey 07458 deCODE Genetics

22. © 2005 Prentice Hall Inc. / A Pearson Education Company / Upper Saddle River, New Jersey 07458 Gene patenting  Reasons for patenting include protection of investment to develop product  In return for teaching others how to make invention  Bayh–Dole Act: encouraged patenting from publicly funded research

23. © 2005 Prentice Hall Inc. / A Pearson Education Company / Upper Saddle River, New Jersey 07458 Problems with patenting genes  EST patenting  Lack of functional information  Utility  “Patenting life”  Public investment in genome projects  Bermuda rules for immediate access

24. © 2005 Prentice Hall Inc. / A Pearson Education Company / Upper Saddle River, New Jersey 07458 European Parliament directive on patenting  Human body, its parts, or sequence of its genes cannot constitute patentable inventions  An element isolated from human body, including the sequence of a gene, may constitute a patentable invention  The industrial application of a gene sequence must be disclosed in the patent application

25. © 2005 Prentice Hall Inc. / A Pearson Education Company / Upper Saddle River, New Jersey 07458 Genetic testing  Can identify alleles that predispose for disease  Link between genetic testing and procreation  Limits of information  Problem: when there is no cure for a particular disease  Example: Huntington’s disease  Issue of testing children  For late-onset disease when no cure exists

26. © 2005 Prentice Hall Inc. / A Pearson Education Company / Upper Saddle River, New Jersey 07458 Huntington’s disease  Autosomal-dominant neurological disorder  Woody Guthrie died of it  Age of onset varies  Genetic basis known  Triplet repeats  More repeats: earlier onset  No treatment or cure

27. © 2005 Prentice Hall Inc. / A Pearson Education Company / Upper Saddle River, New Jersey 07458 Genetic testing in the workplace  Major railroad decided to perform DNA tests on employees  Wanted to identify susceptibility to carpal tunnel syndrome  Equal Employment Opportunity Commission filed suit to block action

28. © 2005 Prentice Hall Inc. / A Pearson Education Company / Upper Saddle River, New Jersey 07458 Reasons for not having genetic tests  Currently, tests exist for several diseases  The number of people choosing to undergo these tests is far fewer than companies or physicians predicted  Reasons:  Fear of discrimination  Concern over impact on families  Lack of effective treatments  Preference for uncertainty

29. © 2005 Prentice Hall Inc. / A Pearson Education Company / Upper Saddle River, New Jersey 07458 Who will pay for genetic testing?  Genetic tests for many diseases likely to be expensive  e.g., whole-genome sequence for individual  Willingness to pay for tests to resolve uncertainty?  Who will pay? Insurance companies?

30. © 2005 Prentice Hall Inc. / A Pearson Education Company / Upper Saddle River, New Jersey 07458 Genetic counseling  Enabling patients to make informed decisions  Problems once the decision is made to undergo tests  Changes in self- perception  Difficulty in adjusting to low-risk status

31. © 2005 Prentice Hall Inc. / A Pearson Education Company / Upper Saddle River, New Jersey 07458 Targeted-therapy issues  Pharmacogenomics promises therapy tailored to individual’s genome  More specific, fewer side effects  Problem: smaller customer base  Will pharmaceutical companies invest in therapies for a smaller number of patients?  Who will pay for targeted therapies?

32. © 2005 Prentice Hall Inc. / A Pearson Education Company / Upper Saddle River, New Jersey 07458 Genetic determinism  Fate written in genes?  Goes to heart of ideas of personal responsibility  Criminal behavior  “My genes made me do it”  Problem of “scientific evidence”  Very little currently known about relationship of genes to criminal behavior

33. © 2005 Prentice Hall Inc. / A Pearson Education Company / Upper Saddle River, New Jersey 07458 Genetic modification of humans  Eugenics movement  Weed out “bad genes”  Types of potential modification  Disease or malformation related  Cosmetic  Behavioral  Somatic vs. germ line modifications

34. © 2005 Prentice Hall Inc. / A Pearson Education Company / Upper Saddle River, New Jersey 07458 Cloning of humans  Difficulty of cloning humans  Abnormalities in animals  Reasons for cloning  Immortality  Eugenics  Organ donor

35. © 2005 Prentice Hall Inc. / A Pearson Education Company / Upper Saddle River, New Jersey 07458 Genetic modification of farm animals  Transgenics and clones  Scientists “playing God”?  Monoculture in animals  Issues of suffering

36. © 2005 Prentice Hall Inc. / A Pearson Education Company / Upper Saddle River, New Jersey 07458 Genetic modification of crop plants  Is the transfer of genes into plants fundamentally different from breeding?  Benefits of GMOs  Improved agricultural production  Reduced herbicide use  Fewer toxic pesticides  Stress-resistant plants

37. © 2005 Prentice Hall Inc. / A Pearson Education Company / Upper Saddle River, New Jersey 07458 Possible risks of GMOs  Spread of genes into wild species  Allergies  Frankenfoods  Balancing benefits and risks

38. © 2005 Prentice Hall Inc. / A Pearson Education Company / Upper Saddle River, New Jersey 07458 Scientists and public policy  Identifying potential risks  Recombinant DNA  Individual testimony  Advisory committees  Professional organizations

39. © 2005 Prentice Hall Inc. / A Pearson Education Company / Upper Saddle River, New Jersey 07458 Positive lessons from genomics  Similarity of all humans 99.9%  No genetic basis for race  Homology of genes among all creatures  Strong evidence for evolution

40. © 2005 Prentice Hall Inc. / A Pearson Education Company / Upper Saddle River, New Jersey 07458 Summary I  Ethics, law, and social implications (ELSI)  Information in genome  Potential uses  Potential misuses of genomic information  Safeguards

41. © 2005 Prentice Hall Inc. / A Pearson Education Company / Upper Saddle River, New Jersey 07458 Summary II  Genetic testing  Genomic sampling  Gene patenting  Genetic counseling  Genetic modification of humans  Genetic modification of plants and animals  The role of scientists in public policy