NBSTRN SCID National Call October 28, 2011

1. NBSTRN SCID National CallOctober 28, 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 • NYS Led Pilot • 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 • Implementation Issues • Long-Term Follow-Up - Amy Newborn Screening Translational Research Network

3. September 2011 Update From States • NYS Led Pilot – Pilot completed, report submitted. • States Currently Screening • WI – CDC grant ending in October. Have approval to continue screening through a NBS fee increase. • States Not Currently Screening • CT – Oct 1st start date. • FL – Heather - Governor vetoed SCID Bill. No change. • Texas – Rachel - Pilot going good, ~3000 specimens to date. Funding ending Oct 2011 but will continue until reagents are exhausted. Plan to draft white paper and send to Health commissioner. Cost effectiveness issue will be addressed. • VA – Tom – SCID formally endorsed, advisory meeting Feb 2012, gathering information, training, logistics, projected Jan 2013 • WA- Mike – Did not get CDC funding. Will add SCID when funding available. Need legislative action to increase fee. Targeting 2013 legislative session. • MI – Kevin – Method validation complete, 5300 samples. Consultation with Mei. Scheduled to start screening Oct 1st. • MO – Patrick – SCID approved, 2013 projected, advisory board, LSD first and second tier DNA for CF first • KS – Jamey – Oct advisory meeting, Kansas does not have a nbs fee, hope that they will be able to add a fee in Jan 2012 legislative session that would include SCID. • NJ – Susan – advisory committee discussions, recommended to add to panel and now being reviewed by dept of health, attempt fee increase for start up costs, lab moving. • IL – John – Pilot in the Spring, waiting for high throughput instrumentation and will work with other states to get validation feedback. Claudia – Administrative rule update to include SCID in progress, no issues, should be complete by the end of 2012. • OK – Tonya – gathering information, logistics, need to find space to perform the test. Newborn Screening Translational Research Network

4. September 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

5. CDC Update - Bob • Dr. Robert Vogt updated the group on CDC efforts. • Laboratory training for states in process • MN, MI, CT, DE • Cooperative agreements with the following states to be implemented soon • MN, MI • CLSI Document development in process. • 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

6. CDC Update - JoAnn • Dr. Joanne Mei • Formal proficiency program in place. • 7 laboratories enrolled. • Quarterly proficiency testing. Newborn Screening Translational Research Network

7. September Update Educational Efforts • IDF Update • Abnormal screen brochure for parents is available for programs, clinicians, and other groups to utilize. • Available online. • Discussion regarding reaching primary care physicians and state labs. Suggested working with AAAAI and AAP. • AAAAI • Dr. Lisa Kobrynski highlighted the effort of AAAAI and suggested that they may draft another document regarding newborn screening for SCID and emphasize live vaccinations precaution and other clinical management issues. • Different education needed for clinical diagnosis versus newborn screening. • CLSI Document • Will be helpful for laboratories. Focused on TREC technology. Newborn Screening Translational Research Network

8. September Implementation Issues • Implementation Issues • SCID Newborn Screening included in a session at recent AMLI meeting. • Lisa and Roshini - states need assistance with confirmatory testing. Concern re if states know what to do with a case once there is a screen positive. • Suggested posting questions to NBSTRN website and directing the questions to experts and experienced state labs. • Cost effectiveness information is lacking and would be helpful for states. Newborn Screening Translational Research Network

9. 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

10. Action Items Newborn Screening Translational Research Network