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Biology 590 - Graduate Seminar: Genetics and Ethics

Taken from real situations and suggestions from Genetic Counselors

Prenatal HD Testing

We have been drawn into a prenatal HD testing situation here. The patients OB has done the amnio and sent the sample for HD analysis. This patient's husband has the gene and they underwent counseling last year. The patient claims that the counselor told her that she should have testing during the pregnancy because once the child is born- she'd have to wait for the child to turn 18. We don't have any documentation that these sort of issues were even discussed and that counselor is no longer available. At that time, we recommended the patient seek further genetic counseling prior to becoming pregnant. That didn't happen. We were asked to contact the patient and discuss the prenatal testing with them. The patient clearly stated that termination was not an option, she just wanted to know if her child would develop HD as an adult. We discussed these issues with her and why labs are refusing to test her sample. The patient is very angry and is threatening legal action. I guess we are looking for advice or input on how to handle this situation. We don't feel that we can support this woman's quest for prenatal diagnosis, but this situation is getting really ugly. We do plan on contacting the Ethics committee, but are looking for others opinions...

Genetics and Public Policy Center at Johns Hopkins University

I would like to share with you the results of a new and important survey of the public's knowledge and attitudes about reproductive genetics and take this opportunity to introduce the new Genetics and Public Policy Center at Johns Hopkins University.

Briefly, the goal of the Genetics and Public Policy Center is to create the environment and tools needed by key decision makers in both the private and public sectors to carefully consider and respond to the challenges and opportunities that will arise from the scientific advances in genetics. Our first initiative, funded by a generous grant from The Pew Charitable Trusts is to examine the scientific, medical, ethical, and policy issues surrounding advances in reproductive genetics. Genetic testing, gene transfer, and reproductive cloning are just some of the reproductive genetic technologies that we will address. As you well know, these advances may hold great promise, but they also bring a host of challenging ethical, social, legal, religious, and policy concerns. The public's optimism and concerns are reflected in the results of the survey conducted by the Center. A copy of the release and the full results along with the accompanying report are available on our Web site at http://www.dnapolicy.org along with more information about the Center's mission, goals, staff, and resources.

We look forward to working with the NSGC as we progress on our project. Meanwhile, we welcome your comments and feedback.

Suggestions,Comments and Interesting Cases from Genetic Counselors in Response to Call for Ideas

Hi - I have had some rather interesting cases over the years and thought that they present a number of issues. I have changed diagnosis, family details etc but I think that you can get the idea. let me know if these makes sense ( i am writing these off the top of my head)

Case 1: Non-paternity plus. There is a family of five siblings, three girls and two boys. The eldest, a sister, has two children recently diagnosed with Fragile X. Family is very close and all are aware of the diagnosis. Parents divorced when children were small. Children raised by father who had remarried. Two sisters are interested in carrier testing. Grandfather is also interested in testing for other extended family members. GC meets with grandfather. During the session (at the prompting of his second wife) admits that his youngest daughter is most likely not actually biologically related. He divorced first wife because of an affair and thinks that daughter might be product of this affair. He has never told daughter this and states "she is my daughter in ever other sense of the word" and "it has never mattered to him one way or another" and this is why he has never confirmed his suspicions.

Dilemma: Do you raise issue of paternity with daughter given the stress that this family is already under? Do you risk creating a rift in this family? Do you go ahead and attempt to get insurance authorization for a test on a person that may not be at risk (insurance fraud)? How can you justify carrier testing on one sib and not the other? Do you attempt paternity testing without adult patient knowing? Complicating factor: Biological mother is very bitter about fathers custody and attempting to use diagnosis of Fragile X to break family unity "this is all his (i.e., the grandfathers) fault". Do you discuss approaching her about paternity testing knowing that you will be giving her ammunition?

Twist: Fragile X carrier testing done on both sisters. (Decision was that grandfathers info was actually unsubstantiated rumor). Sister two (no doubts about paternity) is NOT a carrier. Sister three (paternity is in doubt) IS a carrier. Grandfather was mistaken. Now have to deal with psychosocial fallout of carrier testing for daughter and paternity issues for grandfather.

Case 2: Five years ago, during a routine prenatal work up, a Filipino woman (patient A) was diagnosed (by MCV) as an alpha thal carrier. Patient speaks English as a second language and is of very low literacy. Met with patient and husband and discussed risk for alpha thal major and carrier testing for husband. Husband has MCV of 72. Based upon this and timing of pregnancy, decision is made to do DNA testing on both. Mother is carrier of two gene deletion and father is carrier of a single gene deletion. Met with couple and explained that risk is now for baby to have HGB H disease. They seem to have a very limited understanding but are relieved about diagnosis. Couple declines prenatal testing. Baby is born and tested. Baby has Hgb H. Followed for a number of years but has no complications.

Present time: Younger sister of patient A is referred because of low MCV. Also diagnosed with alpha thal trait. She is contacted by telephone to set up an appointment to discuss result and coordinate testing of her husband. Declines appointment but husband elects to have testing. Husband has MCV of 63 and is also two gene deletion carrier. Called couple with result. She refuses to come in for counseling stating "you scared my sister five years ago and her baby is fine" "you told her he had thalassemia but he is perfectly healthy". "You are just trying to get me to do an expensive and dangerous test (amnio)!" Pt. clearly has been receiving incorrect information from sister but how do you correct information without breaching confidentiality?

Can you share child's actual diagnosis without permission of his parents? (Multiple attempts made to contact them with no success). Finally contact elder sister who declines to share info..."you scared me for no reason and I won't let my sister go through the same thing". Clearly doesn't understand the difference in diagnoses but refuses to share info. What do you do now?

How do you become the expert without invalidating information of older sister (who now works as a med tech and is family medical expert)? Pt. continued to decline any further counseling or testing. Baby born healthy but has low MCV (likely a carrier). Family has taken this as proof that diagnosis was wrong.

2. One ethical issue that really stuck in my mind when I took the Ethics and Genetics course is the issue of enzyme replacement therapy for rare genetic disorders, such as Pompe disease, Gaucher, and Fabry disease. This issue is that the enzyme replacement is tremendously expensive and that most patients cannot afford the enzyme. The pharmaceutical companies have spent millions to develop the enzyme, and there are only so many patients with the disease to collect the money from. The cost of the therapy makes it not available to all patients. Since the clinical trials of Fabry disease may end in couple years, the patients who currently get replacement for free under trial participation may not be able to afford it after it becomes FDA approved.

3. In keeping with someone's suggestion of topics by condition, talking about deaf people trying to have a deaf child would fit right in. There was a wonderful article in the Washington Post Magazine several months ago called Deaf Like Me. Studies by Middleton and Stern have explored deaf people's attitudes about prenatal testing for hearing loss and about terminating pregnancies based on the "wrong" hearing status.

4. Here are some of my favorites when I teach classes on ethics: Genetic testing of minors. Confidentiality versus duty to inform. Who owns your DNA? Who has access to your medical records? Genetic selection issues. Court rulings, there are several good ones in cancer genetics. I have found that case examples work well for teaching. I collect newspaper articles and examples of ethical dilemmas that I hear about in a file for when I need them.

5. Carol, here's an idea. Previous child with Fanconi Anemia, in need of transplant with no appropriate matched donor. Parents decide to conceive another pregnancy, and seek testing not only to rule out Fanconi Anemia, but to determine if the subsequent child would be an appropriate donor for the affected sib (i.e., HLA testing on the CVS). Huge ethical / moral dilemmas - you could have a debate if you have enough students to "take sides" on the issues. On a simpler note, but some similarities - parents of a child with Down syndrome (or whatever) deciding to have another child in order that the handicapped child would have siblings to care for him or her after the parents are no longer able to do so.

One more - a woman at risk for Huntington disease who chooses not to have pre-symptomatic testing for herself or her pregnancies, but chooses to have her children while she is young, so that when the time comes that she has symptoms of HD, her children are grown enough that they "don't need her".

Carol, the Fanconi case that really happened was from Dr. Auerbach in New York - she discussed it in her talk at ASHG this year (abstract number 175). I had a case years ago that went as far as doing the HLA testing on the fetus, but the pregnancy continued even though there was no match.

The HD story is from a patient I knew years ago (before there was a Huntington gene, back in the days of linkage and the early predictive testing study protocols) who did exactly what I described - she had at least 3 children in quick succession, lived her life believing she would someday have the disease, but hopeful that her children would be old enough to be independent by the time that happened. SHe never really dealt with the fact that her children would be at risk themselves - she believed in the "someday there will be a cure" mantra. Sounds like a great course. Good luck with it.

6. Hi, Carol, I never have any of the usual ethical dilemmas discussed under this heading. I have no feelings about whether people should terminate for the wrong sex or terminate at all. Stem cell research, having babies who are HLA matches to affected children, whatever, go ahead. But I have two ethical dilemmas that are never discussed under this heading. 1) I sometimes feel that a patient is referred for teratogen exposure or ambiguous amniocentesis result and is pressured by their OB to terminate. Then I counsel them that their risk for an abnormal baby is really remote . The OB insists the risk is high and the patient terminates. It occurred to me that perhaps the OB is afraid of a wrongful life suit and is really advising termination based on that and not telling the patient that he is advising based on that! Not that I blame him. It is a shame that OBs suffer so many spurious suits. But still. 2) the other ethical dilemma is not feeling free to refer a patient to an expert because because my institution provides the same service, or the OB doesn't want the patient to go where I want her to go.

7. I just recently did a lecture for the pediatric residents at my institution regarding genetic testing for hemochromatosis in a pediatric setting. Not only did the discussion cover ethical issues of genetic testing in children for adult onset disorders, but ethical and social ramifications of population screening came up as well in our discussion of a recent study showing that only 1% of persons with 2 identifiable mutations in a random population had clinical evidence of hemochromatosis.

I've also presented on the ethical implications of genetic testing of cancer susceptibility. This brings up similar ethical issues as Huntington's with the twist of susceptibility doesn't equal predisposition. And how does one deal with the issue of confidentiality within a family when one person not wanting to know their status when another family member opts to have a mastectomy based on their genetic status that they only learned from having the first one tested. Best of luck with your course! 8. Hi. What about testing for cancer syndromes i.e. Breast and Ovarian and HNPCC?? These issues are coming up more and more!!

CD-ROM "Genetics in Clinical Practice: A team Approach

Please ask to borrow this excellent CD-ROM to get ideas for your presentations. The following is a comment from a genetic counselor. "I think the hemochromatosis case in particular would be interesting around the issue of the mother wanting testing for her 17 year old twins. You have to think about biochemical versus "genetic". Is there really a difference? I had a long and wonderful discussion with the producer of the program, Dr. Joe Henderson, who is a primary care physician. He felt "required" to at least offer biochemical testing."

Taken from the NSGC "Genetic Counseling Casebook"

Complex Counseling Cases
Case 1. and 2. Familial Chromosome Translocations and Case 3. Tuberous Sclerosis and Consanguinity
Refusal to Share Test Results
Case 4. Fragile X and Case 5. Linkage test Results for Prenatal Testing
Sex Selection
Cases 6. MSAFP and Case 7. "Down Syndrome" and CVS
Questions about paternity
Case 8. Normal chromosome polymorphism and Case 9. Congenital Adrenal Hyperplasia
Dealing with Difficult Family Dynamics
Case 10. Huntington Disease and Case 11. Prader-Willi Syndrome
Ambiguous and Erroneous Laboratory Results
Case 12. Fragile X and Case 13. Duchenne Muscular DystrophyPatient
Misinterpretations
Case 14. 4p-/Wolf-Hirschhorn and Confined Placental Mosaicism (CPM); Case 15. Alpha-thalassemia and Case 16. Breast Cancer
Presymptomatic Testing
Case 17. and 18. Huntington Disease
Difficult Prenatal Cases
Case 19. X-linked Mental Retardation and Case 20. Duchenne and Becker Muscular Dystrophy
Adhering to a Research Protocol
Case 21. Breast Cancer: BRCA1
Inter-Professional Issues
Case 22. Referral to a Neurologist