blog.bioethics.net

Newborn Screening with a Twist:
Unproven but Expensive Test, Unproven but Expensive Treatment that Might Kill Those with Late Onset Form of Gene

New York is all set to become the first government in the world to start screening for Krabbe disease, as a result of lobbying by former Buffalo Bills quarterback Jim Kelly. The testing, which is expensive, can turn up, if there aren't too many false negatives, the 1 in 150,000 infants born with the early onset form of this autosomal recessive trait that results in terrible symptoms followed by death typically before age 2.

There is no proven treatment, but a group at Duke has an interesting experiment underway that involves destroying the bone marrow of the affected infants with chemo, then replacing it with hematopoietic stem cells intended as a bone marrow transplant. It has worked, they report, 20 times, as best they can tell, but it is incredibly risky - and many of those who have the disease inherit the late onset form - which might be very difficult to differentiate.

New York passed no law nor created a program to pay to enroll children in the experimental protocol at Duke, which isn't free, though this article claims that such payment from insurance companies might be no problem. Either way, the expenditure of this level of resource on something this rare, and where the risk of mis-identifying an infant who really has late-onset Krabbe, is difficult to justify when 30% of our nation has insufficient health insurance for far more common conditions.