Beast of Burden? Comments on the NIH Genetic Testing Registry

摘要

The Genetic Testing Registry (GTR) is a voluntary registry of genetic tests initiated and created by the National Institutes of Health (NIH) (Field et al, 2011). Given the proliferation of tests for many genetic conditions, the NIH recognized that a centralized public database for information about these tests was needed. NIH launched the GTR project "to advance public health and research in the genetic basis of health and disease" (NIH, 2011). The key objectives are to enhance transparency, provide an informative resource for the public, and facilitate data-sharing. The NIH has actively engaged stakeholders throughout the process, some of whom have expressed concerns about the registry—particularly how to convey exactly what the information provided represents. After approximately a year of work on the GTR, where does it stand?