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US health institute launches genetic test database

5 March 2012
Appeared in BioNews 647

A free information resource detailing numerous disease-specific genetic tests that are now available was launched last week by the US National Institutes of Health (NIH).

The Genetic Testing Registry (GTR), designed with physicians, patients and researchers in mind, aims to improve transparency about genetic tests. According to the NIH, genetic tests currently exist for about 2,500 diseases ranging from cystic fibrosis to lung cancer, with the field growing rapidly.

'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', said director Dr Francis Collins.

The GTR is still in its early days. Currently, contents are limited to entries that were previously registered on the NIH's resource of medical-genetics information,, and it is limited to tests for Mendelian diseases and genes that affect the metabolising of medicines.

Missing tests include exome and whole-genome sequencing, mutations found in tumours and direct-to-consumer services. The NIH is looking for more companies to submit information, on a voluntary basis, in order for it to become a comprehensive resource.

Visitors can search the GTR by condition, test, gene and test provider. Information includes the purpose of a genetic test, its limitations, how accurate and reliable it is, and whether it produces clinically useful outcomes for the patient. Additionally it provides the name and location of the test provider, whether it is a clinical or a research test, the methods it uses, and what exactly is measured.

Consumer advocacy group, the Council for Responsible Genetics (CRG), commended the NIH for enabling consumers to access previously inaccessible information.

However there are reservations about the NIH's reliance on the voluntary submission of data, and the lack of independent oversight to ensure that data submitted by companies is accurate.

For CRG president Mr Jeremy Gruber, this points to a deeper underlying problem with the lack of federal regulation of health-related genetic testing.

Most genetic tests do not have to be approved by the Food and Drug Administration if they are performed as a laboratory service and they are not marketed as a medical device.

'The fact that there has been an abdication of leadership in overseeing genetic tests puts a level of uncertainty into the discourse that neither benefits the industry, researchers nor consumers', Gruber told Nature News Blog, 'I think we all lose when regulatory agencies create uncertainty in the market'.

Confused by genetic tests? NIH’s new online tool may help
NIH Press Release |  29 February 2012
New NIH Database Brings Clarity to Genetic Tests
Science Insider |  29 February 2012
NIH announces database for genetic test information
Nature News |  29 February 2012
NIH Launches Genetics Test Database
The Scientist |  03/12
NIH to launch genetic testing registry next spring
Nature News |  2 November 2010
US registry to clear up confusion over genetic tests
New Scientist |  03/12
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