My Health: Upgraded: Revolutionary Technologies To Bring A Healthier Future by Meskó Bertalan

Author:Meskó, Bertalan [Meskó, Bertalan]
Language: eng
Format: epub
Publisher: Webicina Kft.
Published: 2015-09-06T21:00:00+00:00

Should I Get My Genome Sequenced?

#genomics #medicalfuture #NGS | The 6th Day (2000)

My childhood dream was to become a genetics researcher. When I reached this goal at the age of 26, I decided to create a new profession in which my geek self was also involved. This is how I became a medical futurist. But genetics has still been close to my heart, and so I’m glad whenever I am invited to speak about my experience with genetic testing.

Direct–to–consumer genetic testing was a big thing in the early 2010s. New companies offering such services appeared month after month. I have used three such services, and I like to share what they provided me with, and how, as a geneticist, I analyzed my own DNA information.

After one talk I gave about this a woman in her early twenties told me how worried she was that many types of cancer had affected her family. Given the examples I had described she wanted to know whether she should have her genome sequenced. She was curious whether doing so could tell her what to expect in the coming years. She believed that having information about our DNA comes with a verdict. But it does not.

I had my own DNA analyzed while doing my PhD, which made the process quite an adventure. Companies sent me sampling tubes that I sent back with my saliva containing cells and DNA. A few weeks later I could browse my ancestry and see which famous people I share a genetic background with. But the trick part was seeing what medical conditions I had a predetermined risk for.

Tens of thousands of studies have analyzed the connections between genetic codes and specific diseases. If you have cytosine instead of guanine at a certain position in your DNA, you have a bigger risk for developing asthma. Genetic testing companies design their own algorithms and choose what studies to use while calculating your disease risk. For the same DNA sample I received three different results for the same conditions. One company told me I have an elevated risk for diabetes. Another one said that my risk is lower than the general population’s. I had to be a geneticist in order to draw any conclusions from these.

Actions that could actually make a difference to me were missing. I would have liked to learn what lifestyle changes could decrease my risk for developing the conditions each company mentioned. But the same advice popped up from all of them for each condition: have a healthy diet, exercise more, don’t smoke, and don’t drink alcohol to excess. Oh yes, and have a check up from your physician once in a while.

I got fed up with inconsistent results, and decided to analyze the genome myself. I downloaded the raw data of my DNA into a huge text file containing codes that seemed to make no sense, and uploaded it to a service called Promethease. It costs $5 to do so. But the analysis it provides doesn’t tell you what to think.

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