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Genomic Testing: Foraging Through Evolving Medical Treatment

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Practicing medicine today is not like it was 30 years ago. Actually, it is not the same as it was 10 years ago. Technology is improving fast – and with the U.S. Supreme Court’s recent ruling in Association for Molecular Pathology v. Myriad Genetics, Inc., “naturally occurring” human genes cannot be patented because they are a “product of nature.” Long story short, this ruling has already lead to more broad-based genetic testing, prices are dropping, and analyzing your DNA is becoming even more convenient.

We are living in a time now where all of us – medical professionals included – are foraging through technology, and we are doing it as smoothly and carefully as possible. Although DNA sequencing is familiar to geneticists, it is not so familiar to consumers. Since people are taking more of an initiative with their health, we are able to get more information about our bodies than we ever imagined. This can be overwhelming.

I am director of the Personalized Genomics Medicine Program at Atlantic Health System. We have counselors in oncology, prenatal testing, pediatric genetics and adult genetics. Let us walk you through this fledgling process! We can help dissect your DNA marker profile, whether it is from an emerging genetic testing company such as 23andme.com, or from Atlantic Health’s own Genomic Program. As you probably know, an office visit with your primary care physician is typically limited in time and scope. This can make it hard to cover results of genetic testing in detail, unless your primary care physician has an interest in genetics.  Our Genomic Medicine Program can provide 60-90 minute consultations so you can discuss everything that you need to know with our staff, learn about what your results mean, and, what your next steps should be.

You may have seen ads online for businesses such as 23andMe.com that allow clients to receive genetic marker profiles (not to be confused with a gene sequence reading, which is what the Genomic Program offers) for as little as $99. This company started out with the ambitions of having people submit a DNA sample (as simple as dropping a sample of saliva in a test tube), and people would discover their ancestry. But it has turned into much more, where it explores more than 240 health conditions and more than 40 inherited conditions. For example, if the results from your genetic test from 23andme.com come back to show that you have a genetic marker for breast cancer, it may not necessarily mean that you will ultimately develop breast cancer. It may only be stating that you have an increased risk for the disease, but it is not a clear indicator that you will get breast cancer. Our staff at the Genomic Program can really dive deep into your profile and interpret the information that’s in front of you. What’s more, if you did want to have a gene sequence reading, which is more complex than a genetic marker profile, we can help you with that.

We are decades away from having detailed knowledge of genomes. Perhaps one day, genetic sequencing will take place at birth… and we can test for very significant genetic disorders. But for now, we are exploding into a new realm of diagnosing and treating illnesses, and learning more about “what lies ahead.” With all the opportunities people have to seek out these medical mysteries, it is exciting to be a part of the process and help find answers. Do not let genomic testing lead you to believe we are headed toward a “Brave New World” – consider: if there is a way to prevent and treat a genetic disorder, wouldn’t it be great to have all the information at your fingertips?

Darius Adams, MD, is director of the Personalized Genomic Medicine Program at Atlantic Health System.


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