PI: Michele Caggana, ScD, FACMG

Institution: New York State Department of Health

To increase the likelihood of detecting classic SCID cases, NIH increased the screening sample size through a larger pilot project initiated in 2010 with Health Research, Inc. (HRI), a not-for-profit corporation affiliated with the New York State Department of Health. The NIH-funded project enabled HRI and collaborators to provide evidence for the feasibility of screening technologies and to expand SCID newborn screening pilot studies to four additional States and Territories: New York, California, Louisiana, and Puerto Rico. The NIH-funded research priorities for this project were to:

• Assess screening technologies for SCID,
• Establish immediate confirmatory tests and procedures for presumed positive results,
• Ensure capacity and resources for tracking positive cases and arrange for appropriate follow-up care and referral in a timely manner, and
• Verify administrative structures necessary for a prospective pilot testing of SCID, including ability to obtain approval for human subject research.

The report on the SCID Pilot Project can be found here.