COMMENTARY

Topol Reviews 2013: A Year of Revolutionizing Medicine

Disclosures

December 11, 2013

Practice Changers: Lab Innovations and Genetic Testing

It was almost a year ago that I signed on as Editor-in-Chief of Medscape, and I'm extremely grateful for the opportunity and for the extensive input so many of you have provided. In my last monthly newsletter for the year, I would like to expound on why I think this is the most exciting time ever in the history of medicine and how it will be imminently practice-changing.

Looking at the Laboratory

Let me first turn to laboratories, a big part of how we practice. We send our patients to the clinic or hospital lab, or a central facility, to get their blood drawn. Typically, multiple tubes of blood are obtained; the costs are not transparent; and perhaps even worse, the results are not easily or routinely accessible for most patients. Last month, I highlighted a new entity on the scene -- Theranos -- and interviewed Elizabeth Holmes, the young CEO.

Theranos will be in all Walgreens stores before long, leveraging microfluidic technology to do hundreds of assays with a droplet of blood, with a fully transparent cost list, and ultimately with results directly going to both the patient and doctor. After 60 years of unchanged laboratory medicine practice, this new, innovative model will help drive disruption -- just the kind of shake-up that we have needed.

Second, while touching on labs, recently there has been a big flap between 23andMe, a direct-to-consumer genomics company, and the US Food and Drug Administration (FDA).[1] This was probably attributable to a prolonged lapse of communication on the part of the company, concurrent with aggressive marketing of the product. 23andMe has temporarily stopped providing health-related genetic testing, such as disease susceptibility, carrier state, and pharmacogenomics. Their intention is to work things out with the FDA and get their full $99 panel back up in the months ahead. Why is this an important issue? A Nature editorial[2] posited, "so even if regulators or doctors want to, they will not be able to stand between ordinary people and their DNA for very long."

Genetic Tests and the "Angelina Effect"

In May of this year, Angelina Jolie published her "My Medical Choice" op-ed,[3] signaling her decision to not only get her BRCA 1,2 genes sequenced but to also undergo bilateral mastectomy.The impact of the so-called "Angelina effect" has been felt worldwide, with a large spike in BRCA testing driven by consumers, and challenges to prevailing cultural norms in places such as Israel, where there is a very high rate of pathogenic BRCA mutations but close to the lowest rate of preventive surgery.[4]

The issue at hand is the availability of genetic tests to patients, which didn't exist before. Pregnant women can now, in their first trimester, have a single tube of blood drawn to screen for multiple chromosomal aberrations. Amniocentesis is quickly becoming a bygone procedure.[5] The power of genetic testing in practice is just starting to be felt and will be increasingly transformative in the years ahead.

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