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NBSTRN SCID National Call November 18, 2011. Call in number: 1-866-671-5988 Conference code: 841-900-2082. Agenda. Standing Agenda – Led by Dr. Michele Caggana Introduction of New Participants Update from States NYS Led Pilot CDC Funded Pilots – Minnesota and Michigan
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NBSTRN SCID National CallNovember 18, 2011 Call in number: 1-866-671-5988 Conference code: 841-900-2082
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 Network
October 2011 Update Newborn Screening Translational Research Network
Percentage of Annual Births Newborn Screening Translational Research Network
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 1st 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 2013. • 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 2013. Newborn Screening Translational Research Network
October R4S Update • 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
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
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
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 Network
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
Action Items Newborn Screening Translational Research Network