Genetic Testing in a Clinical Setting
Dr. YOUNG: We are fortunate to have a genetic counselor who will speak here after lunch. Is there a distinction between genetic and other kinds of medical information? There is proposed legislation in a number of states and even at the federal level. Vice President Gore is proposing this legislation at the federal level to safeguard genetic privacy. We already have legislation in place supposedly protecting the privacy of other kinds of information. I say supposedly, because in this day of computerized databases, privacy is moot. It might be. I don't think we have any guarantees of privacy any longer, with respect to all kinds of information, medical and otherwise.
So, do we really need more legislation safeguarding genetic privacy or is there legislation on the books sufficient to do that. I'd be very interested in Andrea's comments after lunch. (lunch intervenes).
Ms.ZANKO: First of all, I wanted to thank you for having us here. We really enjoy coming out and meeting teachers and all the people who are here. This type of education is so important.
I'd like to start with a story about Mary. My story is about a little girl named Mary. She was a bright infant reaching age-appropriate developmental milestones: sitting, crawling at six months, clearly alert, responsive, adorable baby. After six months, she started to crawl less, she needed support when sitting, she seemed less interested in her environment. She made no further gains. Her pediatrician started a work up. The infectious work up was negative. There had been no trauma. About a month later, at seven months, he felt what we call hepatosplenomegaly, meaning her liver and spleen were enlarged. At that point, he referred her to UCSF for admission. She was worked up by gastroenterology service, neurology and ultimately made it to genetics.
In genetics, we often get referrals when no one else has a clue. When you see a child missing milestones, one of the first thoughts that comes to your mind when you work in genetics is metabolic disease, storage disease. And in Mary's situation, that was very indicative. We did a metabolic work up which included a liver biopsy. And the liver biopsy did give us the answer. The liver biopsy detected an enzyme which was essentially absent in its activity. She was diagnosed with Niemann-Pick Disease. This is a degenerative, metabolic disorder, with regression--where milestones continue to be lost. There are no further gains and ultimately, the child will need complete supervisory care with death occurring by about age three or four.
I had gotten to know the family when Mary was admitted. They were a lovely, bright, well-educated couple. They were in their late thirties. Mary was their first child. They were extremely afraid. And they had no idea how grave the situation could be. Slowly, I introduced them to the idea of why we were doing a metabolic work up, I introduced them to the possible results and the implications, and mostly we worked around the issues of just having a child in the hospital being worked up. That alone is something that is terrifying.
When the results from the liver biopsy were available, we scheduled a meeting with the family and I went with a metabolic geneticist and one of our Genetic fellows. We are a teaching university, so I often have a fellow by my side. The fellow was new to genetic counseling a nd when we met this couple, he launched into a discussion of metabolic pathways, enzyme deficiencies, toxic metabolites, until finally the dad turned to me and asked, "Is our baby going to die?" And I put my hand on his arm and I looked at both of them and I said, "Yes, your baby is going to die." And then the dialogue began.