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NIH Launches Genetic Testing Registry

NEW YORK (GenomeWeb News) – The National Institutes of Health has launched a new web resource aimed at providing consumers and healthcare providers with information about all of the genetic tests that are currently on the market.

The Genetic Testing Registry, unveiled today – international Rare Disease Day – was developed to serve as an encyclopedia of the genetic tests that currently exist for around 2,500 genetic diseases, one which will be updated as new tests and applications come on the market.

The goal was to create a resource that would help healthcare providers and consumers sort through information about the available tests, because most do not require premarket review by the US Food and Drug Administration.

The GTR entries will cover information on the purpose of the test, its limitations, the name and location of the providers, whether it is for clinical or research use, what methods are used, and how the results are measured. NIH will not verify the content of the entries provided by the testing providers, but it will require that they agree to a code of conduct for accuracy that will enable NIH to require submitters to correct inaccuracies or to remove such information from the resource.

On top of the basic information, the voluntary GTR will provide details about a test's analytic validity, clinical validity, and clinical utility.

"I'm delighted that NIH has created this powerful, new tool. It is a tremendous resource for all who are struggling to make sense of the complex world of genetic testing," NIH Director Francis Collins said in a statement.

"This registry will help a lot of people — from healthcare professionals looking for answers to their patients' diseases to researchers seeking to identify gaps in scientific knowledge."

"Our new registry features a versatile search interface that allows users to search by tests, conditions, genes, genetic mutations, and laboratories," said GTR Director Wendy Rubinstein. "What's more, we designed this tool to serve as a portal to other medical genetics information, with context-specific links to practice guidelines and a variety of genetic, scientific and literature resources available through the National Library of Medicine at NIH."

The registry was developed by the National Center for Biotechnology Information, with input from a range of stakeholders, including testing labs, healthcare providers, patients, and researchers, through a public comment period and public meetings.

The GTR was built using data pulled from the GeneTests lab directory, an NIH-funded resource that will be phased out over the coming year, but it will include more detailed information and a wider range of testing types, such as tests for variants associated with common diseases and responses to drugs. The GeneReviews resource, which contains peer-reviewed, clinical descriptions of more than 500 conditions, will be available through the GTR.

As of last August, NIH estimated that it should take submitters an average of 30 minutes per test to provide the minimum information for the registry, which includes responding to 31 questions, and around 2.5 hours to answer more optional questions.