NBS06: Newborn Screening for Severe Combined Immunodeficiency and Other Related Severe Immunodeficiencies, 2nd Edition

CLSI requests nominations for volunteers to serve as members and contributors on a document development committee for a document revision.

Description

CLSI document NBS06 will provide a historical perspective on newborn screening (NBS), severe combined immunodeficiency (SCID), and primary immunodeficiencies (PIDs). This guideline will include relevant terminology and classification of defects identified by NBS, as well as clinical background on SCID and B-cell deficiencies, including current approaches to treatment and follow-up. It will also include a high-level review of the biology of T- and B-cell development necessary to understand the rationale for the different screening strategies based on assays for T-cell receptor excision circles (TREC) and kappa-deleting recombination excision circles (KREC). This revision will include grouping of US states performing TREC-based NBS by method and reporting structure. It will also describe the current status of follow-up of TREC-based NBS, with recommendations to standardize TREC-based NBS reporting and follow-up testing. This guideline will also review international protocols used in NBS for SCID and PID, including both TREC assays and pilot evaluation of KREC assays for B-cell PIDs. In addition, it will discuss analytical approaches and limitations to incorporating KREC assays for NBS and recommendations for implementing KREC assays for NBS.

This group is looking for volunteers with:

  • Expertise in all phases of the NBS process, with emphasis on SCID and PID screening
  • Expertise in international NBS programs and processes
  • Expertise in health care professions (pediatrics, genetic counseling, family practice, nursing) involved with SCID and PID NBS follow-up
  • Expertise in evaluating the influence of factors interfering with NBS results for SCID and PID
  • Expertise in instrumentation and reagents for SCID and PID NBS
  • Experience in and knowledge of NBS regulatory aspects

Additional information on essential job duties and skills and abilities for CLSI committee participants can be viewed here.

Timeline for this project

Week of September 15-19, 2019: First face-to-face meeting (NOTE: This will be a 2-day meeting scheduled during the September Committees Week in Alexandria, Virginia.)
October 2019 to August 2020: Drafting of document (higher-intensity volunteer time period)
December 2020 to February 2021: Voting period for draft document
March 2021 to July 2021: Revision of draft based on comments received during voting
December 2021: Expected publication date

Due date for submission of required documentation

Please submit nominations and required documentation (see Requirements for Nomination Consideration) on or before April 15, 2019 to volunteer@clsi.org.