NBSTRN SCID National Call January 27, 2012

1. NBSTRN SCID National CallJanuary 27, 2012 Call in number: 1-866-671-5988 Conference code: 841-900-2082

2. Agenda • Standing Agenda – Led by Dr. Michele Caggana • Introduction of New Participants • Update from States • Update from States that are Currently Screening • Update from States that are not Currently Screening • Update on R4S Portal – Roshini and Fred • Update from CDC • NSQAP TREC PT Program – Joanne • NSTRI - Bob • Update on Educational Efforts • Implementation Issues • Long-Term Follow-Up Data Sets - Amy Newborn Screening Translational Research Network

3. December 2011 Update Newborn Screening Translational Research Network

4. Percentage of Annual Births Newborn Screening Translational Research Network

5. December 2011 Update From States • States Currently Screening • States Not Currently Screening • IA – Advisory meeting in January • WA – Advisory meeting in January. Cost benefit data would be helpful. Discussed Chan et al 2011 article. Will distribute via email to group. • TX – Whitepaper drafted and includes cost benefit data. Rachel will check if she can get approval to share it broadly. TX has reagents on hand to continue to screen until mid-February 2012. • KS – No change. • MO – Fee increase needed. Targeting later half of 2013. • NE – Meetings with insurance companies underway. Six months before official and estimate screening sometime in 2012. • Industry Newborn Screening Translational Research Network

6. December R4S Update • SCID module available. Roshini Abraham and Fred Lorey are the co-curators. • Contact David McHugh to access - McHugh.David@mayo.edu • Goal is to get states that are screening and/or planning to screen to actively enter data. Pilot data can be entered into R4S. • Introductory webinar can be held at any time. • Currently 6 condition types • Depends on diagnosis given by immunologist Newborn Screening Translational Research Network

7. December 2011 CDC Update - Bob • Development of CLSI Guidance in process. • Development of a calibrator in process. Newborn Screening Translational Research Network

8. December CDC Update - JoAnne • Formal proficiency program in place. • 7 laboratories enrolled. • Quarterly proficiency testing. • Currently recording first TREC report. • Available throughout the US in 2012. • Plan to introduce internationally in 2013. Newborn Screening Translational Research Network

9. December Implementation Issues • Cost effectiveness • Chen et al 2011 article • CDC effort – request update from Drs. Cuthburt and Grosse • Screening and short-term follow-up algorithms • It would be helpful to have a central location for sharing algorithms – NBSTRN will post available algorithms • Educational Efforts • It would be helpful to post available educational materials – NBSTRN will post available algorithms Newborn Screening Translational Research Network

10. January Implementation Issues • Heather Smith - Can other’s on the call please explain to me how they charge their fee and what it covers? I’m trying to get a better understanding of how FL compares to some of the other states who are currently screening for SCID.  Is newborn screening a money maker for other states? Newborn Screening Translational Research Network

11. Long-Term Follow-Up Update • Common Data Elements defined by Joint Workgroup of NCC and NBSTRN • Disease Specific Elements in progress in conjunction with PIDTC • Review of USIDNET data sets • Data capture tool development through NBSTRN and subcontract with CHoP Newborn Screening Translational Research Network

12. Action Items Newborn Screening Translational Research Network