An Evolving App for Genetic Tests

Posted on April 30th, 2013 by Dr. Francis Collins

We all hope for health care in the genomic era to become as easy and personal as a smartphone app. And perhaps at some point it will be. At some medical centers, electronic health records already include a list of patients’ genetic variations that might trigger harmful drug reactions and send ‘pop-up’ alerts to warn the physician or pharmacist. This is just the tip of the iceberg, but it’s a harbinger of things to come. Our big challenge is to translate all the new discoveries and data from the genome project into a format that physicians and other health care providers can use to improve health.

To bridge that transition from discovery to diagnostics and treatments, the NIH launched the Genetic Testing Registry (GTR) last year. There are hundreds of genetic testing companies, thousands of genetic tests for thousands of diseases, and some diseases have more than 20 names. What a challenge for providers to sort through! GTR is becoming a central repository of all the genetic tests available, and therefore greatly simplifies this search. It’s a vital resource, as providers can’t be expected to know all the diseases and genes or to keep tabs on the growing number of tests.

GTR is a free online tool. Health care providers simply type in a disease or gene, get a list of available genetic tests, and compare and order them. Importantly, the system promotes transparency by encouraging companies to voluntarily share detailed information about the tests, evidence that the tests predict what they claim, and proof that this information improves health in some way for patients and families.

To date, about 285 companies have participated, and NIH has extended invitations to hundreds more. GTR contains information on more than 3,000 tests that encompass about 2,100 diseases—such as Huntington’s, Marfan syndrome, and cystic fibrosis. GTR also includes tests that predict adverse reactions to drugs or the need to adjust doses.

GTR is an expanding resource that also helps health care providers identify relevant clinical trials, access professional practice guidelines, and find support groups for their patients. It also provides links to consumer friendly information about each disease.

Figuring out how to translate all the discoveries about the genome into better health and disease prevention is a major priority. GTR is part of the solution, as noted in a recent article in the Journal of the American Medical Association [2]. As we create new tools like GTR and ClinVar [3]—an online catalog of all known genetic variations and their health consequences—and stitch them together, your health care will be empowered.

References:

[1] Genetic Testing Registry

[2] Accessing genomic medicine: affordability, diffusion, and disparities. Tuckson RV, Newcomer L, De Sa JM. JAMA. 2013 Apr 10;309(14):1469-70.

[3] ClinVar

For more information:

Frequently Asked Questions About Genetic Testing

Genetic Testing

NIH support: National Center for Biotechnology Information, National Library of Medicine; National Human Genome Research Institute