CF "success" story

Today I am writing about something I call truly Personalized Medicine. This topic hits near and dear to my heart and I am going to talk about this because it is an ethical dilemma.

The recommendations for genetic screening by the American College of Medical Genetics, the American College of Obstetricians and Gynecologists, and the National Institutes of Health were issued in 2001. According to recent letter in the NEJM it turns out that the birth rate of children with Cystic Fibrosis has dropped.

The number of infants born with cystic fibrosis in Massachusetts decreased by 50% from one four-year period to the next according to this letter in the NEJM. They attribute this to the Newborn screening available in Massachusetts since 1999. In addition they also report a drop in those patients born with "supposedly" the worst outcomes...those with two Delta F508 mutations. This is the most common mutation and has been "associated" with worse outcomes. But not all rests on this gene, there are modifiers of this disease.

Here is the most important point they make.....The children born with CF in the future may actually have less significant disease and may need to have less aggressive or less early interventions.

But here's what they don't say.....Preconception screening for this disease is important, but a highly personal choice..... despite what the ACMG and ACOG say. There are some children who are doing just fine with CF. As for adults with CF like the 74 year old patient who I diagnosed a few years ago, I am certain they would not want to have never been born. Especially my friend who now has CF AND 2 very healthy children. He would want us to be able to predict worse outcomes preconceptionally. We are on that road now. But until then we still will be doing Preconception evaluations as well as Prenatal evaluations. This is because the aforementioned patients are the exception and not the rule.....

Genetic Issues are complicated. Despite this seemingly great report, there is more to this story....Much More. This is why I have had issue with haphazardly Shipping off CF testing for prenatal care and the poor guidance give by some OB's/Midwives regarding test results. This is not to say all OB's do a poor job of giving pre and post test counseling....but the data indicate that quite a few do. Only 19% self-reported thoroughly reading ACOG's Guidelines on CF testing!!!! Only 1 in 5 OB/Gyns can answer 5 fairly simple questions regarding CF correctly...at least in some groups of this study. This indicates a knowledge gap. I have seen it personally and it is quite distressing.

The Sherpa Says:
To get the best evaluations, you need people trained in the field, skilled with this complicated type of testing AND its complications. This is why I ask that every Ob sending genetic testing at least calls a geneticist or genetic counselor. We cannot assume that everyone knows what we know! If you are a pregnant or planning please ask your OB to let you speak with a geneticist if she sends genetic tests.....