Personalized Medicine. It’s a concept that we occasionally hear about but it really hasn’t become part of our culture in the way that it should.
When I took statistics and learned about the “normal” bell curve it struck me just how important it is that about 20% of us are outliers. We fall outside the norm. You see most people fit the norm (whatever that norm might be). The normal body temperature of 98.6 degrees Fahrenheit is a perfect example of this. For most people, that is their normal temperature. Yet, for my family (my mom, my brother, and myself) our normal body temperature is 96.8 (about 2 degrees low). This creates a problem when we are sick and we still don’t run a “fever” by normal standards.
Unfortunately, body temperature probably isn’t the only area of our health where we fall outside the “norm.” Thyroid function is an excellent examples where many people fall within the norm yet still show symptoms of having low or high thyroid function. Why? Because the norm for them isn’t good enough. I’m one of those. My thyroid function falls on the “low end of normal.” It’s within the range that most doctors don’t think to treat it, yet it’s low enough that it causes issues for me and needs to be treated.
So, why do we as a society continue to try to treat all patients the same when we obviously are not? Why is medicine not more personalized? Why don’t we look at each individual as an individual?
Thankfully, changes are beginning to occur as companies like Hudson Alpha begin to look at the most basic genetic makeup of an individual to determine not only the cause of their symptoms but how to treat those symptoms. Hudson Alpha is a biotech company based in Huntsville AL focused on genome research. Hudson Alpha is working to change how we diagnose and treat illness.
I’ve known that cancer runs in my family for years. My Grandmother on my Father’s side had cancer more times (and in more places) that I even know about. My mom was first diagnosed with cancer 25 years ago and again about 2 months ago. In my family I’ve seen a great deal of gynocological cancer, breast cancer, skin cancer, colon cancer and more. I’ve already been told by my GI doctor that I’m at high risk for colon cancer based on the polyps he removed from my colon. Given all this knowledge of what could happen I’ve been curious about genetic testing for cancer and what it might show.
Unfortunately, genetic testing isn’t cheap. For most people it’s not at all affordable and the only way it’s likely to be paid for by insurance is if you already have cancer. For instance, my sister-in-law had breast cancer and after she was diagnosed they did the genetic test to find if she had the gene, giving her the option to have the insurance pay for a double rather than a single mastectomy. Last year, Hudson Alpha made a huge announcement that, through their Information is Power Initiative, they were offering FREE genetic testing for the genes related to breast and ovarian cancer to women under the age of 30. For women over that age they were offering the test at a huge discount. This is still going on through October of 2016.
I’ve not had the test run yet, but after my mom was diagnosed with cancer for the second time my interest increased. A few weeks back I was able to sit down with a couple of people from Hudson Alpha and talk to them about some of the other things that Hudson Alpha is doing. It seems that testing for these particular cancer genes is only the tip of the iceberg. The Smith Family Clinic for Genomic Medicine is the world’s first stand-alone clinic for using genomic medicine to diagnose disease. Their primary focus is on rare and undiagnosed disease.
“There are 30 million people living with rare and undiagnosed diseases in this country. Many have been on diagnostic odysseys for an average of seven years, often without a diagnosis. We now have the tools and the team to markedly improve the rate of diagnosis– which is the first step in providing a treatment,” – Howard Jacob, PhD, Executive Vice President, HudsonAlpha
The amazing thing that the Smith Family Clinic is doing is that they aren’t just looking for specific genes, they are sequencing the entire genome, giving them more results to reference for disease-causing variations. This is a game-changer for those of us who have conditions that have eluded diagnosis, often for years. While the clinic is located here in Huntsville, AL, it is open to patients anywhere. To be accepted you have to be referred by a doctor; however, many doctors aren’t aware of the clinic. So, there’s another answer. You can call the clinic directly and their staff will help you get started. They will review your previous medical records to decide if you are a candidate and connect you with their doctors for a referral. The clinic can be reached by calling 256.327.9640 or emailing info@smithfamilyclinic.org.
August 8-10, 2016 Hudson Alpha is hosting a Genomic Medicine Conference with a special track specifically for those with undiagnosed and rare diseases, as well as another just for adult adoptees. Adoptees have special considerations when it comes to their health because they rarely have the same access to their own medical history that those raised by their birth parents have. These groups will have the opportunity to have their genomes sequenced during the conference. Both of these special (non-scientist) tracks will focus on information related to ethical, social, and legal aspects of genomics, as well as information on interpreting genomic findings.
I have to applaud companies like Hudson Alpha that are seeking to find ways to make medical information more obtainable for the average person. I’m really proud that they are located here in my area, and excited that I was able to meet with some of their people to learn more about what they are doing.
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