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  • 1. Legal and Policy Issues Concerning Access to Genetic Information Philip R. Reilly, M.D., J.D. ASLME Public Forum DNA Fingerprinting and Civil Liberties Cambridge, MA September 17, 2004
  • 2. DNA is THE Information Molecule
    • All the genetic information coding for a human is present in the first cell (union of sperm and egg)
    • The information is a long sequence written in a four letter alphabet (A, T, G, C)
    • The DNA sequence in germ cells is 3,100,000,000 letters
    • The human genome has about 24,000 genes
    • Our cells use more than 100,000 proteins
  • 3. The DNA Paradox
    • Your DNA is 99.9 percent like that of the person next to you
    • The .1 percent difference is immensely important
    • It means we differ at 6 million letters
    • We are both very alike and very different
  • 4. Laws of Inheritance
    • Genes are units of information that are transmitted with high fidelity through time (an error rate of only about 1 in 100,000 per gene per generation)
    • Genes may have dominant, recessive or X-linked effects
  • 5. We Have Tools to Decode DNA
    • Enzymes that can cut the DNA molecule in precise locations
    • Enzymes that permit us to amplify (make billions of copies of) a DNA sequence of interest
    • Technologies that permit us to sequence vast stretches of the DNA molecule
    • Research methods that permit us to associate tiny variations in the DNA molecule with risk for a disease
  • 6. Why Should We Be So Interested in Our DNA?
    • Insights into causes of important diseases in humans, animals, and plants
    • New tools to assess risks in advance, permitting intervention
    • New tools in drug development
    • New approaches to therapy
    • Powerful identification technology
  • 7. Major Areas of DNA Research
    • Understanding DNA VARIATION
    • Single DNA letter changes are known as SNPs
    • atagca…………………….atacca
    • Two or more SNPs can be combined into haplotypes
    • New tool - SNP chips with disease focus
    • Understanding the genetic profile of cells (use of microarrays with thousands of molecules anchored to a slide to detect what genes are turned on).
  • 8. Trends in Applied Genomics
    • New Genetic Tests
    • Pharmacogenetics
    • Behavioral genetics (genes that create risk for autism)
    • Pharmaceutical Industry - Drug development
    • Agriculture - Genetically engineered crops
    • Nutrition - genomics as an approach to wellness
  • 9. Inexpensive to Test
    • From 1990 to 2004 the cost of performing a DNA test for cystic fibrosis dropped 75 percent while the number of mutations tested rose from 5 to 25.
    • Tandem Mass Spectrometry screens newborns for 20-30 single gene disorders for $1.00 per disease per child
    • DNA forensic testing is on the order of $30-$50 for a clean sample.
  • 10. Some Ethical Issues in Genomic Medicine
    • Moral status of fetus and embryo
      • prenatal diagnosis and selective abortion
      • therapeutic cloning
    • Population based carrier screening
      • impact on parenting
      • Safety of genetically modified foods
      • Genetic Privacy
      • doctor-patient relationship
    • i mpact of risk assessment testing for insurance and employment
    • long term storage of DNA and data
  • 11. Genetics and Confidentiality
    • Genetic information is familial
    • The physician may discover facts that are of great importance to other family members
    • What issues arise when a doctor discovers that a serious disorder arose for genetic reasons?
  • 12. Case: Risk of Colon Cancer
    • DNA test may indicate that a person carries a mutation that increases cancer risk
    • Inference: his siblings and other relatives may have this mutation too
    • Opportunity: early screening and curative surgery
  • 13. Ethical Problem: Disclosure within Families
    • The patient states that he will not disclose his test results to relatives, and he forbids the physician to do so.
    • What is the proper ethical conduct for the physician?
    • Is there a duty to warn? A limited right?
    • Why or why not?
  • 14. New Tests for Developmental Disorders
    • It has been impossible in many cases to explain why a child has developmental delay
    • DNA tests may soon greatly improve our diagnostic and prognostic skills in autism, mental retardation, ADHD and other disorders
  • 15. Challenge: Genetics and Self-Image
    • New DNA tests to diagnose DD/MR will sometimes cause:
    • Parental guilt
    • Diminished self-worth
    • Stigmatization
    • How will genetic labels affect education
    • Is there a risk for genetic determinism?
  • 16. Opportunity: Warning Healthy People about Risk for Future Disease
    • Cancer: about 5 -10 percent of people who develop cancer are born with a significantly increased risk
    • Tests available for breast and colon cancer now.
  • 17. Who Has a Claim on Your Genetic Data?
    • Spouse?
    • Siblings?
    • Children?
    • Physician?
    • Teacher?
    • Life Insurer?
    • Employer?
    • Department of Public Health?
    • US Military?
    • Parole Board
  • 18. How Public is Your Genetic Information?
    • Virtually everybody born in the US since 1968 has had a genetic test. A few states save the tissue; others the data.
    • US Military operates the largest tissue bank in the world. They retain the sample long after the soldier musters out.
    • Many of the people in the room who have had surgery have a tissue sample in storage somewhere. By one estimate there are 320 million stored samples in the US.
  • 19. Universal DNA Banking?
    • In Iceland, Decode Genetics has access to virtually all medical records in the country.
    • Estonia plans to sell access to its population’s DNA samples and medical records. (So does its neighbor, Latvia)
    • The Marshfield Clinic (Wisconsin) seeks to enroll 40,000 volunteers in a gene-environment study. Mayo Clinic has even bigger plans.
    • The UK seeks to enroll 500,000 volunteers
    • Many other groups considering the same approach
    • Pharmaceutical companies store DNA on all persons in clinical trials.
    • Every state has universal newborn screening.
    • Every state has a DNA felon data banking law.
  • 20. Genetics and Health Insurance
    • Almost all states have laws prohibiting group health plans from using genetic data to deny coverage for pre-existing conditions
    • The federal HIPAA (Sect. 703) also forbids this
    • Although there is little evidence of genetic discrimination, public concern is high
  • 21. Will Genetics Change the Definition of Disease?
    • Is a person who carries a mutation that increases his or her risk for a disease or disorder healthy or ill?
    • Consider: a 42 year old woman seeks oophorectomy because of her family history of ovarian cancer. Her insurer refuses to pay for the surgery because it was not performed to treat a “bodily disease.” Should she be reimbursed? (Katskee v. Blue Cross of Nebraska)
  • 22. What are the Risks of Genetic Discrimination?
    • access to health insurance
    • access to life insurance
    • access to long-term care insurance
    • employment
  • 23. Genetics and Life Insurance
    • Genetic tests rarely used in underwriting
    • About 10 states have laws regulating some aspect of this
    • Insurers will not demand tests because they do not need to. Theywill see results of tests that applicant has taken when they review medical records
    • It will be difficult to prohibit life insurers from gaining access to genetic test data
  • 24. Genetics and Long Term Care Insurance
    • Les than 10 percent of Americans purchase it, but the number is rising
    • What if there were a predictive test for Alzheimer’s disease?
  • 25. Genetics and Employment
    • The ADA forbids using pre-employment medical testing
    • The EEOC has said that ADA rules protect persons denied employment on the basis of a genetic test
    • OSHA exists to promote a safe workplace
    • May employers use genetic tests for risk for occupational disease?
  • 26. What is a Serious Genetic Disorder?
    • In the period from 1965 to 1995 the number of live born children with spina bifida in England and Wales declined by 95 percent.
    • This was because of a screening test that could identify women with “high risk” pregnancies
    • For most fetuses with spina bifida we cannot really predict future medical problems.
  • 27. Predictions: Genetics in 2020
    • Universal DNA banking under state protection
    • Routine use of genetic information to guide wellness
    • Routine sue of genetic information in premarital screening
    • Routine use of genetic screening in pregnancy
    • Routine use of genetic data in making prognostic statements
    • Routine use in choice of drug therapy
    • DNA data will play a central role in crime resolution
    • Routine use of DNA testing in invocation of insanity defense
    • People will talk about their genetic risks the way they do about family history today
  • 28. The End
  • 29. What’s Next?
    • Pharmacogenetics
    • Nutritional genetics
    • Use of genetic profiling in choice of skin care products
    • Search for anti-aging genes
    • Human behavioral genetics
  • 30. Pharmacogenomics
    • Most drugs do not work in a significant fraction of patients.
    • This is in part due to genes that influence drug metabolism.
    • The era of one drug fits all will end in the next 10 years.
    • Drug choice will be matched to patients’ genetic background
    • First use will be to avoid giving drugs that cause severe adverse effects in some patients. Next use will be to choose the right drug for the patient.
    • Genomic knowledge will permit efficient development of drugs that will have greater efficacy and fewer side effects.
  • 31. Nutritional Genomics
    • Goal: Guide consumers to the most effective nutritional supplement based on their genotypes
    • Example: Some people have a “pro-inflammatory” genotype. The use of an anti-inflammatory nutritional supplement to dampen the inflammatory response may help reduce the risk of or delay the age of onset of chronic inflammatory disorders such as coronary artery disease and osteoarthritis
  • 32. Genetic Variation and Skin Care
    • Some researchers now studying differential aging of skin
    • On the horizon – much better products against photoaging, better protections against skin cancer
  • 33. Genes for Longevity?
    • Studies in lower organisms have shown that one can build strains that are long lived.
    • Longevity is a familial trait.
    • One company collects DNA samples and medical histories on people (and their sibs) who have lived to be 100. It has mapped a longevity gene chromosome 4. The company dreams of creating anti-aging products
  • 34. Human Behavioral Genetics
    • The search for genes that influence risk for autism, schizophrenia, bipolar disorder, and other common mental illnesses is underway.
    • Claims linking genes with intelligence will proliferate.
    • What will we do with such knowledge?
  • 35. Do We Need to Regulate?
    • What are we regulating?
    • Research projects?
    • Individual choice in sue of technology?
    • State access to genetic data?
    • Private use of genetic data?
  • 36. Why are we here?
    • Society has a powerful new set of tools…tools to analyze (and, ultimately, change) the genetic structure of any organism on earth.
    • This technology is as world changing as nuclear energy.
    • Sixty years into the Nuclear Age, its immense dangers are not yet under our control
    • Tonight we will consider just a few of many important societal issues created by the Genomic Age…which, like nuclear power, offers immense benefits poses great risks.
  • 37. The Human Genome Project
    • A government program that finished three years ahead of schedule and well under budget!
    • It gave us the consensus DNA sequence of humanity … the operating system for the hardware … the blueprint.
    • It told us a great deal about who we are, and it made us realize once again the profound beauty of life and consciousness.
    • But it did not tell us exactly how many genes there are or what they do
  • 38. The Biggest Impact of Genomics so far? Agriculture? Examples:
    • In the USA tens of millions of acres are planted with corn, soy beans and cotton that are genetically engineered to resist a certain non-chemical pesticide.
    • The rice genome has been sequenced and Chinese scientists have developed several strains of genetically modified rice.
    • Golden rice may prevent blindness from lack of vitamin A
    • In October 2002 plans were set out to create an onion that will not make a person cry when he or she cuts it.
  • 39. Biggest Event in Genomics in 2002?
    • Complete sequence of the Malaria parasite (P.falciparum)
    • Complete sequence of the mosquito vector (Anopheles gambiae)
    • In 2002 more than 100 million people developed malaria which killed 3 million.
    • Sequencing has already suggested an important new approach to treatment.
  • 40. Trends in Applied Genomics
    • Cost of acquiring genetic data continues to fall.
    • DNA testing will be cheap compared to many medical tests.
    • Correlation of gene variants with important aspects of human health will uncover many new insights into the etiology of common diseases.
    • Major advances in microarray technologies in study of proteomics.
  • 41. Genes and Environment
    • Genes determine very little, but they influence a great deal
    • The challenge is not to untangle nature from nurture
    • It is to understand how genes and the environment interact
  • 42. Molecular Medicine is Coming to Your Hospital
    • DNA tests in use now to diagnose causes of severe infection.
    • Many hospitals have started cancer genetics clinics
    • (about 5-10% of all cancers arise due to a mutation with which the person was born).
    • 2005: Microarrays in use in your hospital’s laboratories
    • 2010: We will routinely ask vast numbers of questions about an individual’s DNA or proteins as an aid in maintaining wellness, making diagnoses and choosing drug therapies
  • 43. The Power of Genetic Data
    • Impact of genetics on prenatal diagnosis
    • Impact of genetics on confidentiality in medicine
    • Impact of genetics on the insurance industry
    • Consequence of government having access to your genetic records records