Genomics Moves From the Lab to the Doctor’s Office

By Diana Brazzell, Co-Founder & Executive Editor, Footnote

This post was originally published on Footnote, a website that brings academic research and ideas to a broader audience.

Since the discovery of DNA, people have anticipated how deciphering the secrets in our genes might one day transform medicine. The first commonly used genetic tests appeared in the 1970s and the full human genome was sequenced in 2003. But it is only in the past decade, as sequencing technology advanced rapidly and the price tag plummeted, that genomic medicine has started to become a reality.(a) We’re finally gaining access to a huge piece of the medical puzzle – our genetic code – that was previously missing.

The spread of genomics is launching a “new era” in medicine, according to Dr. Alexander Parker, an epidemiologist and the Associate Director of the Mayo Clinic’s Center for Individualized Medicine (CIM) in Florida.(b) We’re transitioning from a one-size-fits-all model to a world of individualized medicine that is tailored to each patient’s genomic profile. Parker emphasizes that genomic medicine isn’t just a “promise for the future” – genomics has already begun to impact nearly every area of medicine and help patients in ways that would have been impossible even a few years ago.1

Genomics can serve as a powerful diagnostic tool, particularly for patients with rare, unidentified conditions who have spent years searching for a diagnosis. Physicians can sequence and search a patient’s genome for potentially relevant genetic markers, then cross-check those against databases documenting the health effects of thousands of mutations found in other patients.

The power of genomics as a diagnostic tool can be seen in the case of Jim, a 23-year-old patient suffering from uncontrollable spasms and tremors.3 Before coming to the Mayo Clinic, his “diagnostic odyssey” spanned five neurologists and —> Read More