Call in number: Conference code: NBSTRN SCID National Call November 18, 2011

Agenda  Standing Agenda – Led by Dr. Michele Caggana  Introduction of New Participants  Update from States NYS Led Pilot CDC Funded Pilots – Minnesota and Michigan Update from States that are Currently Screening Update from States that are not Currently Screening  Update on R4S Portal – Roshini  Update from CDC - Bob  Update on Educational Efforts – IDF, States, ACMG, Others Abnormal Screen Brochure (IDF)  Implementation Issues  APHL Session on SCID  Long-Term Follow-Up - Amy Newborn Screening Translational Research Network2

October 2011 Update Newborn Screening Translational Research Network3 Number of States Shading Status 8 State-wide Screening 3 Partial Screening 15 Screening approved 25 Fact Finding

Percentage of Annual Births Newborn Screening Translational Research Network4

October 2011 Update From States  NYS Led Pilot – Pilot completed, report submitted.  States Currently Screening NY - Meeting with insurance providers that went well. Reviewed some interesting recent cases where the TRECs were not zero. CA – 537,721 to date. 100% sensitivity, 99.99% specificity, 28% PPV, 100% NPV, 1:25,606, False positive 0.01% CO – Validation phase, November 2011 start. Colorado does NBS for WY but will not be doing SCID at this time. MI – October 1 st start date. 0.2% positive rate. Stratifying based on NICU status.  States Not Currently Screening TX – Pilot phase, adding more hospitals. White paper submitted to the commissioner. VA – Approved in October, working on STFU and LTFU. Screening and FU algorithm from states that are already screening would be helpful. WA – Oct conference call with agency staff and advisory meeting in Dec. MO – Planned for KS – Advisory meeting in October. Screening depends on establishing a NBS fee. Current bill includes fee but not SCID. IL – Pilot phase. Fee increase of $10 pending. NE – Advisory committee review and plan complete for STFU and LTFU. New requirement from DHHS for NBS program to meet with major insurors. FL – On agenda for Jan 2012 legislative agenda.  Industry Perkin Elmer – FDA approved kit target is March Newborn Screening Translational Research Network5

October R4S Update Newborn Screening Translational Research Network6 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 | | Fax: | 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.

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 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, PhDConsultant Chairholder Roshini Sarah Abraham, PhD, D (ABMLI), Mayo Clinic Vice-Chairholder Lisa Kobrynski, MD, MPHEmory University School of Medicine Committee Secretary Newborn Screening Translational Research Network7

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 Network8

September Implementation Issues  Implementation Issues Cost effectiveness information is lacking and would be helpful for states. Algorithm sharing would be helpful. Newborn Screening Translational Research Network9

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 Network10

Action Items Newborn Screening Translational Research Network11 Responsible Party ActionTimeline All Review and update status of implementation for your state Before next call December AllSubmit questions and/or agenda items Before next call December