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NBSTRN SCID National Call December 23, 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 Update from States that are Currently Screening
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NBSTRN SCID National CallDecember 23, 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 • 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
November 2011 Update Newborn Screening Translational Research Network
Percentage of Annual Births Newborn Screening Translational Research Network
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
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
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
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
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
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