They say that doctors make the worst patients, which isn’t always true, but can be true.  In the case of a pediatric resident doing a genetics elective at the beginning of her pregnancy, this is true.  I’ve only done three days worth of genetics & metabolism clinic, but it’s enough to drive me nuts.  I thought it would be good to do a genetics elective since I’m going into neonatology (and quite a few of the patients we will see in the NICU will have genetic anomalies), but I couldn’t have timed it any worse.

To begin with: it appears that the majority of the anomalies we see and counsel cannot be tested for in pregnancy.  Those three diseases we test for on the early risk assessment - Down syndrome, Trisomy 13 and 18 - are only the tiny tippy top of the iceberg!  About 2% of all healthy pregnancies that are carried successfully will have some sort of genetic syndrome that cannot be anticipated.  And this 2% risk is just the baseline risk.

Still, though, I managed to calm myself down somewhat.  Even if you could test for other genetic syndromes prenatally, the question is…so what?  Having a baby IS taking a risk, and you have to just make a blind leap of faith, genetics and all.  And not everything is entirely genetic - you could have a bad delivery and your kid could wind up anoxic with seizures and a brain injury, and you couldn’t have predicted that.  You can’t predict that your kid will have autism, even though the chances are 1 in 160.  You can’t predict that he or she will be Republican (although apparently, early childhood personality traits can predict political orientation).  You take the good and you take the bad, just like the theme song to that 80’s sitcom “The Facts of Life.”

Joe said that maybe we should have our genetic risk factors sequenced commercially, but I looked at the website and realized that the disease risks they test for and carrier status that they are able to accurately assess aren’t things that matter much to me anyway.  For example: even if Joe might or might not have Jewish ancestry, I’m pretty sure I don’t have any, and I’m even more confident Gully is at low risk for any of the diseases on the Ashkenazi panel, like Canavan disease.  And big deal if he/she ends up having maple syrup urine disease.  It can be medically managed.

Plus, there are things to worry about where the genetics haven’t even yet been elucidated, like the nerd n’ weakling gene that Gully will obviously inherit.