The Wild World of Genetic Testing

Posted on February 11, 2014

by Liz Jackson

A while back, I wrote about a genetic test I was awaiting results on. I was getting tested for a genetic defect called HNPP. HNPP stands for a Hereditary Neuropathy with a Liability to Pressure Palsies and has been linked to many of the neuropathic symptoms I have been struggling with. 

Under the guidance of my Neurologist, I ordered the HNPP/Charcot-Marie-Tooth panel as well as a Celiac panel. The total price? $5,305. To be paid to Athena Diagnostics before my blood draw was even scheduled.

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Prior to shelling out $5,305 in October, I was assured by Anthem (my insurance company) that under medical necessity, this test is covered. Athena wanted the money up front. Obviously insurance doesn’t pay up front for tests. So Anthem, Athena and I had a 3-way call where my reimbursement was confirmed. 4 months later, I’m still awaiting my reimbursement. And while that is frustrating, what stands out to me are the exorbitant costs and rules associated with genetic testing.

I recently read ‘The Immortal Life of Henrietta Lacks’ by Rebecca Skloot. The afterward mentioned that 20% of known human genes had been patented by private companies. One such company, Myriad Genetics owned the patent for BRCA1 and BRCA2 genes. These two genes are responsible for the majority of hereditary breast and ovarian cancers. Under Myriad, these tests cost upwards of $3,000.

Side Note: Angelina Jolie wrote about her preventative double mastectomy following her BRCA1 mutation discovery.

Scientists and researchers had attempted to study genes like BRCA 1 and 2 without paying the steep licensing fees, but found themselves on the other end of aggressive lawsuits. Fortunately about 6 months ago, the Supreme Court ruled that human genetic material cannot be patented. Within 24 hours of the ruling, BRCA testing was offered at one third of Myriad’s price. That being said, it still ain’t cheap. All genetic tests are costly.

You may have heard of 23andMe. 23andMe is a $99 DNA spit kit. At this time they are only able to test your ancestral origins and physical traits. In November, the FDA put a halt to 23andMe’s disclosure of health-related genetic reports. The FDA found many aspects of this service to be irresponsible and dangerous, they felt patients would interpret results as diagnoses. And I can see their reasoning. Imagine someone discovering they have a BRCA defect while not under the care of a physician. What if the test gave a false negative? Or a false positive? This doesn’t even take into account the implications of the results.

In a recent Daily Beast article, author Charles C. Johnson discovers he’s at an elevated risk for male breast cancer.  What if the normal risk is one in ten million and he is ten times more likely to get male breast cancer. That would still be a one in a million risk. Still extraordinarily unlikely. Or what if he has a result like Angelina Jolie’s and he has a greater chance of getting breast cancer than not getting it. How can he be expected to interpret his elevated risk without taking lifestyle factors into account?

It took me a while to process the results of my HNPP test. I mean the results were simple, they were completely negative. But with genetic testing, it’s never as simple as the black and white result. On the one hand I felt like I had wasted $5,305. I would have never spent that kind of money on a test if I expected it to come back negative. So I spent time wondering if I had actually wanted the tests to come back positive since my expectation was to receive a positive result.

It would have been nice to feel the immediate gratification of a positive HNPP test result. It would have answered nearly every question I had about what was happening to my body. But once I stepped away from the results and looked at the long term implications, I realized how fortunate I am. I do not have the one known genetic basis for a chronic inflammatory demyelinating neuropathy. I can only wonder how many unknown genetic bases are out there. With a negative HNPP test result, I still get to hope that this will all go away. HNPP doesn’t go away.

I do want to note that my Neurologist and I were together when we received these results. We were able to share in our confusion and optimism together. Living in the possibility that one genetic test can change the course of my life means I will never seek a DNA test unless it’s under the care of my doctor. But that is just based on my personal experience. Were I not in a precarious health situation like the one I’m in, I’m pretty sure I would have jumped at the chance to experience 23andMe’s services. Much like my friend Rachel.

Rachel, whose dad is adopted was one of the last batches of genetic medical testing to go through. 23andMe received her kit the day the FDA put a halt to the medical services. She’s a curious and self aware person, so I can see how the process appealed to her. In going through the process, she felt that 23andMe only skimmed the surface and she interpreted her results with a “big fat grain of salt”, but that being said, she felt a sense of relief that nothing popped up.

And the fact that she felt a sense of relief is what stands out to me. It’s a reminder that I’m not the only one who will have a complex emotional reaction to DNA test results. She didn’t even know what she was being tested for, yet the process was one where she was able to breathe a sigh of relief at the end. It almost seems a bit contradictory; the sterile and scientific DNA test and the complex emotional feelings they bring about. Rachel spit in a tube and probably learned a thing or two about her dad’s side of the family.

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On one final note of amusement. I started writing this post a few days ago. I logged into Anthem this morning to discover that they have suddenly started to process a reimbursement for my DNA tests. And the timing could not be any more perfect… because there’s a new DNA test on the horizon.

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  2. Campanile January 18, 2015 at 10:50 pm

    My mother was an early participant of 23andme. She donated her DNA to help find a Parkinson’s gene. She had Parkinson’s, but no gene for it, which meant her PD was idiopathic, not genetic. Yeah for us, her descendants. We learned quite a bit about her ethnic mix and other genes. We we so impressed by 23andme, everyone in our family participated. I am happy that we did. I learned that my youngest daughter and myself have the MTHFR gene and a CBS processing issue. Our bodies can not process folic acid, a synthetic vitamin, added to processed food. I doubt our doctors would have thought of this as a cause to our health issues and tested us for it. But for $99 we have the results-plus many, many more that will help us to lead more healthful lives. We had the option to unlock results that might be upsetting, they were not thrust upon us. I feel the FDA decision is wrong and denies people the right to have affordable DNA results.

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