Medical Genetics

I've been getting quite a lot of exposure to medical genetics lately. First, I did my learning objective for PBL on genetic counseling and ethics. As I mentioned yesterday, this week's case is about an HIV-positive woman who wants to have a baby. Obviously, there are many legal and ethical issues that would arise, from preventing transmission of HIV to the husband, to avoiding transmission to the infant, to genetic counseling of the woman for birth defects of the fetus. Today's seminar was on the use of drugs (both legal and illegal) during pregnancy, which isn't really related to genetics. But then this afternoon, I had genetics clinic.

Genetics clinic turned out to be pretty interesting. I expected most of the patients to be babies, but many aren't. They range in age from little kids all the way up to old people. We did see one baby who was developmentally delayed. But we also saw one woman in her thirties with an unknown genetic condition that caused her to be mentally retarded and have some other physical abnormalities. Probably the coolest patient was a teenager who had blue scleras due to type I osteogenesis imperfecta. (The whites of people's eyes who have this condition really do look noticeably bluish--see picture.) His family was there with him, and his dad and brother had blue scleras also, but they didn't have the same history of broken bones that the patient had. The medical geneticist took pictures of the patients after we examined them.

The one thing I felt kind of bad about is that I was so tired this afternoon that it was hard to stay focused. Medical genetics is very cool, like a detective hunt. We were looking up all kinds of info about genes on line in between patients. But the problem is that there is a lot of downtime, and I had a hard time staying awake. I just hope the preceptor didn't think I was bored, because I didn't feel that way at all. If I were going to go into internal medicine, medical genetics would definitely be one of the specialties I would consider.