Genomics Forum Blog

Tuesday, February 16, 2010

GEDDI Salon and My Research

I recently was able to go to the GEDDI sponsored salon on Public Health Genomics at the University of Michigan. It was a wonderful chance for different stakeholders to get together to talk about the future of public health genomics and what we can do now to make that future better. One of the things that we talked about was the need to help physicians and patients to both be better educated about genomics and to communicate effectively.

Hearing other people including parents of children with rare genetic conditions and genetic counselors address this as a key problem to tackle made me more excited about my current research. I am working on a project with the VA to better understand VA patients and eventually clinicians understanding of genetic tests and the best methods to communicate results in a primary care setting. This project is just beginning so hopefully in the coming years we will be able to share some great insights.

Nicole Exe (Genomics Forum Secretary)

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!!!