Genomics Forum Blog

Friday, February 5, 2010

Newborn Screening for SCID!

It’s not every day that I say “woo-hoo!!!” during the announcements at my department’s weekly grand rounds. This is especially true, because they occur at 8:30 on Monday mornings, and frankly, the coffee usually hasn’t kicked in enough for me to accomplish more than staying awake. In spite of my decaffeinated state, though, I did “woo hoo!!!” this past week, because I learned that a new condition was added to the recommended list of newborn screening disorders.

On January 21, 2010, the Secretary's Advisory Committee for Heritable Disorders in Newborns and Children (ACHDNC) unanimously agreed to recommend that Severe Combined Immunodeficiency (SCID) be added to the uniform newborn screening panel. SCID meets all of the classic criteria for a newborn screening (NBS) condition. Namely, babies with the condition are healthy at birth and for a period of time afterwards, and there is a known, effective treatment (bone or stem cell transplantation). If the babies are detected before they have serious infections, their survival rate is much higher. The technique for screening for SCID involves detection of a marker for T-cell development, call TRECs. While SCID itself is relatively rare (1:65,000-1:200,000), it is clear from Wisconsin, where screening for SCID began almost two years ago, that other children with T-cell lymphopenia will also benefit from this addition to the panel.

I’m anxious to get started here in Georgia. For now, though, I hope everyone will join me in giving their own personal “woo-hoo!!!” for ACHDND’s decision, and for all of the babies and families who will be spared from unnecessary suffering during the years to come. Woo-hoo!!!

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