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genetic variations

An Evolving App for Genetic Tests

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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.


DNA’s Double Anniversary

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Images of the first publication of DNA's structure adjacent to the image on the cover of the published human genome

April 25 is a very special day. In 2003, Congress declared April 25th DNA Day to mark the date that James Watson and Francis Crick published their seminal one-page paper in Nature [1] describing the helical structure of DNA. That was 60 years ago. In that single page, they revealed how organisms elegantly store biological information and pass it from generation to generation; they discovered the molecular basis of evolution; and they effectively launched the era of modern biology.

But that’s not all that’s special about this date. It was ten years ago this month that we celebrated the completion of all of the original goals of the Human Genome Project (HGP), which produced a reference sequence of the 3 billion DNA letters that make up the instruction book for building and maintaining a human being. The $3 billion, 13-year project involved more than 2,000 scientists from six countries. As the scientist tasked with leading that effort, I remain immensely proud of the team. They worked tirelessly and creatively to do something once thought impossible, never worrying about who got the credit, and giving all of the data away immediately so that anyone who had a good idea about how to use it for human benefit could proceed immediately. Biology will never be the same. Medical research will never be the same.