W. David Dotson, Office of Public Health Genomics, Centers for Disease Control and Prevention
A new IOM report makes recommendations that aim to ensure that progress in omics-based test development is grounded in sound scientific evidence and is reproducible, resulting in improved health care and continued public trust in research. Another new IOM roundtable workshop report discussed the differences in evidence required for clinical use, regulatory oversight, guideline inclusion, coverage, and reimbursement of genomic diagnostic tests and focused on ways to clarify pathways for using such tests in clinical settings. Recently, the NIH made a beta version of Genetic Test Registry (GTR) available online. The GTR provides a central location for voluntary submission of genetic test information by developers. The GTR includes information on the test’s purpose, methodology, validity, evidence of the test’s usefulness, and laboratory contacts and credentials. The information provided is not verified by NIH, but assumed to be accurate by the submitting party. The GTR will not obviate the need for evidence-based evaluation of genetic tests and development of recommendations. However it is on track towards becoming useful to advance research and clinical practice.