Cheryl is a 36-year old woman who is pregnant. This unplanned pregnancy is her first with her second husband. She has two sons from a previous marriage, now ages 12 and 15. During her routine prenatal care (medical care during pregnancy), her physician took her family history. He discovered that her maternal grandmother (her mother's mom) died of Huntington Disease. Her mother is 58 years old and doesn't have any symptoms. Her uncles, ages 56 and 51, also have no symptoms. Cheryl has a sister age 38 and a brother age 33, neither of which have symptoms of Huntington Disease. There is no history of Huntington Disease in Cheryl's husband's family.Huntington Disease generally appears without warning between the ages of 30 and 60. It causes irreversible mental and motor deterioration, leading to death after several years of intense suffering. There is currently no treatment or cure for the disease. Huntington Disease is an autosomal dominant genetic disorder; everyone who inherits the gene will develop the disease and has a 50% chance of transmitting it to their offspring.
A genetics test exists which, in families with a history of Huntington Disease, can predict with very high accuracy who will develop the disease. Cheryl tells her physician she was unaware that Huntington Disease was genetic and asks for more information about the disease and genetic testing.
One week later, Cheryl returns and asks to have her fetus tested for Huntington Disease. She says she intends to terminate the pregnancy if the fetus is positive for Huntington Disease. Her physician discusses the implications of Huntington Disease testing with her, emphasizing that if the fetus tests positive for Huntington Disease than both Cheryl and her mother will know that they are also positive. The physician offers to test Cheryl or her mother to determine if prenatal testing of the fetus is indicated. Cheryl says she is not sure if she wants to know if she carries the gene for Huntington Disease. She tells her physician she wants to talk to her mother about the testing and needs to think about it more before she decides.
Two days later, Cheryl called her physician and told him that neither she nor her mother wants to know their genetic status regarding Huntington Disease. She still wants to have the fetus tested for Huntington Disease, but has thought up the following plan so she won't have to find out the result. She tells the physician that, due to her age, she would like to have their fetus tested for Down's Syndrome in addition to Huntington Disease. She has decided she will terminate the pregnancy if either test is positive. Cheryl tells her doctor that she does not want to know the specific result of either test, but only wants to know if both tests are negative or that one is positive. If either of the tests on her fetus were positive, she would terminate the pregnancy.
Guiding Questions 1. What is the role of the family physician and what role should/could a genetic counselor play in this scenario? (A genetic counselor is trained in genetics as well as psychotherapy.)
2. Is testing the fetus per Cheryl's request ethical?
3. What are the rights of Cheryl's other children if the fetus is tested and is positive for Huntingtons? Do they have a right to know? A right to be tested? A right to know their mother's diagnosis? What about Cheryl's brother and sister?
4. Assume the physician went ahead with the prenatal testing Cheryl requested, the fetus was positive, and the pregnancy was terminated. Ten years later a treatment for Huntington Disease is found, but it only works for patients who aren't showing any symptoms yet. The physician never told Cheryl the results of the fetal testing (by her request), and now he has a new dilemma. How should the physician handle this?
5. Consider Cheryl's right to privacy. Should insurance companies (health and/or life insurance) have access to results of Cheryl's genetic testing? Should future employers have access to the results?
Keep in mind - she is currently healthy and may remain healthy if she doesn't carry the gene. If she does carry the gene she will require costly medical care, and will die from this disease.
Extensions:
a) Ten years later, the New England Journal of Medicine's lead article is about a treatment for Huntington Disease that is only effective in patients with no symptoms. Assume the physician refused on ethical grounds to test the fetus as Cheryl had outlined. She had a baby girl with moderately severe Down syndrome who will need Cheryl's support for many years. Cheryl's mother has recently become symptomatic for Huntington Disease. Should the physician suggest testing Cheryl now? What possible reaction could she have? How does the physician handle them?
b) Cheryl's eldest son requests genetic testing for Huntington Disease right after he turns 18 years old. What are the implications of this? How could it affect his siblings, mother, and grandmother? What are their rights?