Genetic Future

Update: Dan Vorhaus has a brilliantly thorough post outlining the implications of the registry.

NIH Director Francis Collins has announced the creation of a voluntary registry for genetic testing services, with the details of each service being made fully available in a public database.

Much depends on the details, but if this database is done right it will be good news both for consumers and for reputable genetic testing companies. The press release states that one aim of the database is to “[e]ncourage providers of genetic tests to enhance transparency by publicly sharing information about the availability and utility of their tests” – thus providing consumers with an easier way to distinguish between accurate, useful genetic tests and contemptible bottom-feeders.
Here’s the press release:

NIH Announces Genetic Testing Registry

Database to Fill Information Gaps and Serve as Research Resource



The National Institutes of Health announced today that it is creating a public database that researchers, consumers, health care providers, and others can search for information submitted voluntarily by genetic test providers. The Genetic Testing Registry (GTR) aims to enhance access to information about the availability, validity, and usefulness of genetic tests.

Currently, more than 1,600 genetic tests are available to patients and consumers, but there is no single public resource that provides detailed information about them. GTR is intended to fill that gap.

The overarching goal of the GTR is to advance the public health and research into the genetic basis of health and disease. As such, the registry will have several key functions:

  • Encourage providers of genetic tests to enhance transparency by publicly sharing information about the availability and utility of their tests 
  • Provide an information resource for the public, including researchers, health care providers and patients, to locate laboratories that offer particular tests 
  • Facilitate genomic data-sharing for research and new scientific discoveries 

“The need for this database reflects how far we have come in the last 10 years,” said NIH Director Francis S. Collins, M.D., Ph.D. “The registry will help consumers and health care providers determine the best options for genetic testing, which is becoming more and more common and accessible. Our combined expertise in biomedical research and managing such large databases makes NIH the ideal home for the registry.”

The GTR project will be overseen by the NIH Office of the Director. The National Center for Biotechnology Information (NCBI), part of the National Library of Medicine at NIH, will be responsible for developing the registry, which is expected to be available in 2011. GTR genetic test data will be integrated with information in other NIH/NCBI genetic, scientific, and medical databases to facilitate the research process. This integration will allow scientists to make, more easily and effectively, the kinds of connections that ultimately lead to discoveries and scientific advances.

During the development process, NIH will engage with stakeholders — such as genetic test developers, test kit manufacturers, health care providers, patients, and researchers — for their insights on the best way to collect and display test information. In addition, other federal agencies, including the Food and Drug Administration and the Centers for Medicare and Medicaid Services, will be consulted.

More information about the Genetic Testing Registry and NCBI is available at: http://www.ncbi.nlm.nih.gov/gtr/.

The Office of the Director, the central office at NIH, is responsible for setting policy for NIH, which includes 27 Institutes and Centers. This involves planning, managing, and coordinating the programs and activities of all NIH components. The Office of the Director also includes program offices which are responsible for stimulating specific areas of research throughout NIH. Additional information is available at http://www.nih.gov/icd/od/.
The National Institutes of Health (NIH) — The Nation’s Medical Research Agency — includes 27 Institutes and Centers and is a component of the U.S. Department of Health and Human Services. It is the primary federal agency for conducting and supporting basic, clinical and translational medical research, and it investigates the causes, treatments, and cures for both common and rare diseases. For more information about NIH and its programs, visit www.nih.gov.

Comments

  1. #1 keith grimaldi
    March 18, 2010

    It’s a great idea and I hope it gets taken up by the companies, it needs the “big three” (or 4 or 5 by now?) to take the lead. The first criterion for deciding whether to buy a test or not should be to see if it is listed on a database like this.

  2. #2 Dan Vorhaus
    March 18, 2010

    Keith -

    Fully agree with your comment, and note that 23andMe has already announced it will be participating in the GTR. I’ve pulled together thoughts about that, as well as the rest of what we can say right now (and a dose of speculation too) over at the Genomics Law Report: http://www.genomicslawreport.com/index.php/2010/03/18/evaluating-the-nihs-new-genetic-testing-registry/

    - Dan