Wednesday, July 14, 2010

Spontaneous Judgments

Rosemary Flanigan
July 14, 2010

Borrowing a case study here used at a national meeting of nurse practitioners:

As genomic information becomes a part of common medical disorders, the primary care practitioner will have to assume responsibility for providing patients and families with an understanding of the risks and benefits of genetic knowledge.

So consider this case: Mr. and Mrs. G are a couple who are being referred for prenatal genetic evaluation in their current (4th) pregnancy. Mrs. G is 34 years old and currently is 9 weeks pregnant.

They have two sons, ages 12 and 10, who are healthy. Their 8 year old daughter, Annie, has a diagnosis of congenital adrenal hyperplasia (CAH). Annie has the classic salt wasting form of this disorder and is being followed by the pediatric endocrinologist at the local children’s hospital.

The gene for this particular condition is known and the parents were counseled that testing the current pregnancy could be done if the mutations in the family were identified. This information could then be used to test the fetus and determine if prenatal treatment of an affected female fetus is indicated.

Blood from Annie and her parents was drawn for direct DNA testing. The parents were informed it would take about 2 weeks for the DNA lab to complete this testing. Two weeks later, the laboratory director gives you a call. She says that DNA analysis identified both mutation in Annie, and that Mrs. G was found to be a carrier for one of these mutations.

However, no mutation was found in Mr. G, which means he could not be Annie’s biological father.
ETHICAL ISSUE: Should the primary care practitioner inform the mother/father or both of non-paternity?

Don’t skip “the answer” and then sit back looking smug. Trace your moral spontaneous judgments before we do any ethics at all. My hunch is that these will be broad-ranging—and thus there will be “meat” for several “ethical analyses.”

Want to tell us what your spontaneous moral judgments are??????? And where they lead??????



Anonymous Kelly Leight said...

Not all CAH mutations have been identified, and current labs only test for the ten most common mutations. Full sequencing could take a couple of months. This family should be referred to a genetic counselor who can go over the results with the family. Based on the facts as you stated them, it would be UNethical to make this kind of a statement to the family.

Wednesday, July 14, 2010  

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