NBSTRN SCID National Call December 23, 2011

1. NBSTRN SCID National CallDecember 23, 2011 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. November 2011 Update Newborn Screening Translational Research Network

4. Percentage of Annual Births Newborn Screening Translational Research Network

5. November 2011 Update From States • NYS Led Pilot – Pilot completed, report submitted. • States Currently Screening • CA –560K to date. 7 classic, 8 SCID variant, 6 non SCID. 8 BMTs. 0.01% sent to flow. • MI –10K to date. 0 true positive. 0.1% sent to flow, 0.1% amplification failure. • States Not Currently Screening • DE – Pilot began in October. • WA – Purchasing equipment, advisory meeting Jan/Feb 2012. • MO – Targeting start screening 2013. • IL – Administrative rule change in process. Analytical work continues. • NE – Meeting with insurance companies as required by DHS. • FL – Will be discussed in Jan 2012 legislative session again. • MD – SCID screening funding is included in the FY 2013 budget. • Industry Newborn Screening Translational Research Network

6. November R4S Update • There are some differences in TREC cut off values. • SCID module available. Roshini Abraham and Fred Lorey are the co-curators. • Contact David McHugh to access. • David M.S. McHugh | Biochemical Genetics Laboratory | IT Liaison - Research | 507-284-3063 | Fax: 507-266-2888 | 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. Newborn Screening Translational Research Network

7. October 2011 CDC Update - Bob • Dr. Robert Vogt updated the group on CDC efforts. • CLSI Document development in process. • Goal is to have a draft by the dend of 2011. • Focus on TRECs only. • Newborn Bloodspot Screening for Severe Combined Immunodeficiency (SCID) by Measurement of T-cell Receptor Excision Circles (TREC); Approved Guideline • Chairs • Harry Hannon, PhD Consultant • Chairholder • Roshini Sarah Abraham, PhD, D (ABMLI), Mayo Clinic • Vice-Chairholder • Lisa Kobrynski, MD, MPH Emory University School of Medicine • Committee Secretary Newborn Screening Translational Research Network

8. October - CDC Update - JoAnn • Dr. Joanne Mei • Formal proficiency program in place. • 7 laboratories enrolled. • Quarterly proficiency testing. • Currently recording first TREC report. Newborn Screening Translational Research Network

9. November Implementation Issues • Implementation Issues • Cost effectiveness information is lacking and would be helpful for states. • Update from Dr. Perez on project in Florida to conduct a study. • Fred offered to gather some information. • CDC may be working on a project as well. • Algorithm sharing would be helpful. Discussed where to store state algorithms and SOPs - NBSTRN, CDC are options. • Calibrators would be helpful. Newborn Screening Translational Research Network

10. 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 • Data capture tool development through NBSTRN and subcontract with CHoP Newborn Screening Translational Research Network

11. Action Items Newborn Screening Translational Research Network