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GENOMICS

NIH Takes Its Genetic Testing Registry Online

Website expected to help researchers, doctors, and public understand available genetic tests.

DANIEL S. LEVINE

The Burrill Report

“It is a tremendous resource for all who are struggling to make sense of the complex world of genetic testing.”

The National Institutes of Health at the end of February launched its Genetic Testing Registry to help researchers, doctors, and the public navigate the rapidly growing world of genetic-based tests. The registry can be accessed online for free.

“It is a tremendous resource for all who are struggling to make sense of the complex world of genetic testing,” says NIH Director Francis Collins, who unveiled the registry during an event to mark international Rare Disease Day. “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.”

Today genetic tests for 2,500 different diseases are available and that number continues to expand at a rapid rate. When NIH first announced plans for the registry in March 2010, there were just 1,600 tests. The registry, which relies on voluntary submission of data by genetic test providers, is expected to be updated frequently, NIH said.

The registry tracks information about tests, such as the purpose of each one, its limitations, whether it is a clinical or research test, what methods are used, what is measured, and the name and location of the test provider. The registry does not include any patient data or test results of individuals. Genetic test providers will be solely responsible for the content and quality of the data they submit to the registry. NIH said it will not verify the content, but will require submitters to adhere to a code of conduct that stipulates that the information they provide is accurate and updated on an annual basis.

Wendy Rubinstein, director of the Genetic Test Registry said it was designed 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. A video overview of the Genetic Test Registry is available on YouTube.



March 01, 2012
http://www.burrillreport.com/article-nih_takes_its_genetic_testing_registry_online.html

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