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Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
Selection of Genetic Conditions for Multi-State Genomic Newborn Screening in BRIDGES-NBS
Nina B Gold1, Britt A Johnson2, Harini Somanchi3
1Department of Pediatrics, Massachusetts General Hospital; Department of Pediatrics, Harvard Medical School.
Purpose:
BRIDGES-NBS is a feasibility study evaluating the integration of genome sequencing into newborn screening (NBS) across multiple U.S. states and territorial public health laboratory programs (PHLPs). We developed a list of conditions for screening.
Methods:
We designed inclusion criteria and assembled an initial condition list from published resources. The list was revised by clinical experts, molecular geneticists, genetic counselors, PHLPs, rare disease advocacy organizations, the BRIDGES-NBS Community Advisory Board, and project leadership from the National Institutes of Health. For each condition, we provided a rationale for early detection, diagnostic signs or biomarkers, and treatments or surveillance strategies.
Results:
The BRIDGES-NBS condition list includes 777 condition entries associated with 743 genes, one copy number variant, and two aneuploidies and is larger than those used in other genomic NBS research studies in the U.S. and United Kingdom. Most condition entries are inborn errors of immunity (37.2%), inherited metabolic disorders (18.7%), or endocrine conditions (18.1%). Nearly all condition entries (93.3%) can be confirmed using a non-genetic test.
Conclusion:
BRIDGES-NBS has established a condition list for implementation across multiple state and territorial PHLPs, enabling the prospective evaluation of feasibility of population-wide genomic NBS.
