In 1970, I was diagnosed with type1 diabetes. My parents could not figure out how an otherwise healthy five year old could develop something so sinister as a disease with the potential to complicate her life or worse end it all together.
Since the time of my diagnosis, research progress has helped to define where diabetes comes from, but for every striking conclusion, more questions still open up.
Seven years ago, my mom was diagnosed with Alzheimer’s disease and there was the ah-ha for me. Alzheimer’s is an autoimmune disease, just like type1 diabetes. In fact, there is a small but growing concern that there is a connection between diabetes and Alzheimer’s. We also knew that mom’s great uncle Pennick died in his 40s from Alzheimer’s.
The autoimmune defective gene, that had affected Uncle Pennick, had been lingering from generation to generation and randomly chose two of us. Autoimmune diseases are on the rise, but causes are still not clear. Most recently, highly salty diets were thought to have impact on creating chronic conditions. While a high salt diet is unhealthy, it was not what precipitated my developing diabetes at age 5 or my mom’s Alzheimer’s disease at age 81. So how much do genetics play in the development of conditions like diabetes?
Last week, the media was abuzz with conversation about the new article in November’s Fast Company regarding 23andMe.com and genetic testing. For just $99.00 you can find out your genetic DNA, giving you the ability to know whether you are at high risk for heart disease, diabetes and a myriad of other conditions. Is this good news?
In type1 diabetes, Trialnet already tracks genetics for families who have type1 diabetes. Their hope is to help drive research toward prevention of type 1. The CEO of 23andMe, Anne Woljcicki, believes “it’s a parent’s duty to arm herself with her children’s genetic blueprint” and concluded “that the power of knowledge outweighs the burden.” My disappointment, with the Fast Company article, was that they didn’t interview Trialnet nor it’s participants about their experience.
So how do parents feel about genetic testing for their children who do not have visible illness? I asked my friend, Carolyn Fearing, whose son Julian was diagnosed with diabetes. In an effort to understand more about the genetic factors that cause type1 diabetes Carolyn, her husband and her non diabetic son were tested for the diabetes antibody. Carolyn shared with me, “We already knew Max was at risk from T1D, so doing TrialNet was not just about confirming this, but about contributing a tiny piece to the massive puzzle of T1D causes. Having said that, we were hoping for good news and were totally unprepared for the shock of seeing his risk factors quantified in black and white and the sorrow and angst that came with it.
There's not much we do with this information (yet) so that's really frustrating. There's no dramatic Angelina Jolie-like action we can take here! If he develops additional antibodies, since he already has the genetic markers, he will become eligible for clinical trials for prevention, so that a huge plus because you can't get into those without the hard evidence that you're at risk. But, as we well know, they are just trials, not real preventive treatments yet.
My advice for someone considering these kinds of genetic tests is, are you in a better place with the data than without it? What can you DO with the information? What are they going to do with the information? With TrialNet we knew that the risk was already there, and felt good about contributing the science. With the off-the-shelf tests, you don't have either of these psychological cushions so the decision is even harder.”
For many patients with a pre existing condition genetic testing felt like putting a bull’s eye on your back if insurance companies bought the lists. Casey Quilan, a fellow patient advocate says she has less concern with DNA data, because the ACA put a spike in the pre existing condition assessment. But the question that remains for Casey is whether there is a concern for a company that is using your data purely for financial gain.
Cancer may have a different spin on the reason to do genetic testing, because there are measures that can be taken to reduce the risk, or begin treatment sooner, but type1 diabetes does not share this ability, yet.
I believe contributing to the cause is extremely helpful and I fully support Trialnet's efforts, but the jury is out on whether I will take the $99.00 dollar genetic test from 23andMe.
What are your thoughts on genetic testing?
Published On: October 28, 2013