Newborn Screening: Part 2

By Brad Therrell, Ph.D., Professor Dept. of Pediatrics, UTHSCSA Director, National Newborn Screening and Genetics Resource Center (NNSGRC)

Each year 15,000-16,000 newborns are identified with one of the core 29 conditions tested for using newborn screening. Tests are conducted by analyzing dried blood spots in order to prevent serious medical outcomes from certain congenital conditions.

Many states are considering evidence that points to the value of adding more conditions to the recommended core screening panel. The Secretary of Health and Human Services’ Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) recommends additional tests; the most recent is Severe Combined Immunodeficiency Disease (SCID), better known as ‘Bubble Boy Disease’. Krabbe Disease, now screened for only in New York, is also being considered as a possible addition. Former Buffalo Bills quarterback Jim Kelly (Hunter’s Hope Foundation) is actively seeking expanded newborn screening including the addition of Krabbe Disease which took the life of his son Hunter before newborn screening was available.

There have been inaccurate reports regarding the use of a baby’s DNA obtained from newborn screening. As mentioned previously, the newborn screening specimens are stored as dried blood spots, not as DNA. If DNA extraction is necessary and possible, there is usually a dissent process in place and there are educational materials about newborn screening distributed by every newborn screening program. In fact, the Secretary of Health and Human Services’ ACHDNC is already hard at work considering national guidance on the issue of storage and use of dried blood spots.

It is important that everyone has the facts about newborn screening available to them. Regardless of the inaccuracies that exist out there, parents deserve to have factual information on the entire process.

The opinions expressed here represent those of the author and not APHL.

There are 2 comments for this article
  1. shashank at 3:06 pm

    Here is a link to more information about the genetics of Krabbe Disease that was prepared by our genetic counselor and which has links to some useful resources for those dealing with this condition: There is also a phone number listed if you need to speak to a genetic counselor by phone. I hope it helps. Thanks, AccessDNA

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