for Screening Genetic Diseases
Has been done for >25 years for these single gene traits:
Sickle-cell anemia (1970s) Tay-Sachs (1970s) Downs Syndrome (1970s) Huntingtons Disease (1983) Duchenne Muscular Dystrophy (1987) Cystic Fibrosis (1989) Other complex multifactorial traits with markers: Colon Cancer Breast Cancer Alzheimers Disease Multiple Sclerosis
Paranoia and Fear with Sickle Cell Screening in 1970s
Discrimination with airline industry and Armed Forces Huntingtons disease When to inform? Now 14 centers in US for psychological screening If tests are for the good in making life-style changes, then fine, but Who will be tested? Will the tests be voluntary? Will insurance be denied? Will employment be denied?
The Working Group of Ethical, Legal, and Social Implications of the Human Genome Project
1. Fairness in the use of genetic information 2. Impact of knowledge of genetic variation on the individual 3. Privacy and confidentiality 4. Impact on genetic counseling 5. Impact on reproductive decisions 6. Issues raised by the introduction of genetics into mainstream medial issues 7. Uses and misuses of genetics in the past 8. Questions raised by commercialization 9. Conceptual and philosophical implications
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Case Study 1: James and Carol H.
Alice is the 6-year old daughter of James and Carol H. Alice was diagnosed with CF at age 2. Alice has a moderately sever case of CF and receives postural drainage, a carefully specified, time-consuming program of thumping to loosen mucus in the lungs, from her mother three times a day. In addition, she is on a regimen of vitamins and enzymes that requires her to take about 25 pills each day. Carol spends much of her day caring for Alice. At least twice each year, Alice requires hospitalization to fight respiratory tract infections. James and Carol have been talking about having another child. Alice is cared for at public clinic associated with a a medical school that has a research project on CF. The clinic physicians suggest that James and Carol undergo screening for the CR gene as part of the project. When the results come back to the clinic, Alices physician is quite surprised to learn that Carol, but not James, carries the CF gene. Since James is not a carrier, it is virtually impossible for him to be Alices biological father.
Case Study #1
Husband/wife have a child with CF. Want another child but need to screen for CF. Results say mother is a carrier for CF but the father is NOT. Therefore he is not the biological father. Pay close attention to items 1, 4, 5, 6, 8, 9, 10 Groups 1 + 5: Groups 2 + 7: Groups 3 + 6: Groups 4 + 2: Groups 5 + 3: Groups 6 + 1: Groups 7 + 4: 1. Identify the question 4. Possible decisions 5. Additional testing 6. Decision 8. Authority 9. Rebuttal 10. Level of confidence
I. Identify the question
First of all, is there a dilemma, and if there is, what is it? Questions that might be posed include the 1. following. Was the physician morally justified in requesting the testing in the first place? 2. Should the physician divulge the test information to James and/or to Carol? 3. If the physician chooses not to divulge the information but James and/or Carol requests the results of the test, should the physician tell the truth or withhold it?
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IV. Possible decisions
What are some possible solutions to the problem? List as many as possible. 1. The physician should not tell James or Carol. 2. The physician should tell James only. 3. The physician should tell Carol only. 4. The physician should wait until Alice is 18 and tell Alice only 5. The physician should tell only if asked. 6. The physician should tell Carol and direct her to tell James. 7. The physician should tell the minister of James and Carol. 8. If Carol will not tell James, then the physician should tell him
Case Study 2: Angela
Angela is a healthy 32-year old certified public accountant who is married with no children. She has been working for 8 years in a small accounting firm. She has decided that she would like to move to a nearby large city and work for a major accounting firm. Five years ago, Angelas mother was diagnosed with HD, an autosomal dominant disease. Angelas mother is in a nursing home. Angelas job interviews go well, and she is offered an excellent position that she readily accepts. However, as Angela is filing out the required paperwork in the personnel office, she notices that she must sign a consent form for a physical that includes a genetic screening ttest of her DNA. When Angela questions whether she must have such a test done, she is told it is required by the company. Although this is a hypothetical case, it is interesting to note that at least ...