Genome testing, the results (part five)
Editor’s note: this is the final installation in a series that began in May. (Read deep metrics, sampling, history, and controversies) It is also an experiment in offering audio content in addition to text. Please do listen tell us if you like it.
It’s been a while since this series began, but at long last my genetic testing results came in, my genetic counselling session discussed them, and then I followed up with some blood tests to dig deeper into my current condition. Let me tell you about my experience.
It’s important to realise that the results of genetic testing are not a death sentence or a guarantee of the future. They are a pointer to possible problems, but so many other things can add or subtract to your risk of disease, that genetic testing is almost meaningless without additional investigation.
The report itself
I had a few entertaining moments with my report. I even laughed aloud on the first read through. You may remember that back in the first article in this series, I wrote about my slight hypochondria and how among the tests were conditions I’d never heard of, like ankylosing spondylitis, that I could spend days worrying that I might have. Well, it turns out that ankylosing spondylitis is one of the things that got a red flag on in my report. So maybe I should have worried.
Some of the indicators are clearly wrong. If you have ever seen me in person, you’d know that “low likelihood for sunburns” and “slightly susceptible to freckles” are laughably incorrect.
Although I am only “medium risk” genetically predisposed to migraine according to the report, I have suffered them for more than two decades. This is a good example of how other factors combine and conspire to create an illness and that genetic factors alone are only part of the story.
I also laughed, in a not so funny way, at the bad writing in the report. It is extremely uneven in tone and quality. There are explanations made about scoring terms that are not used in the report itself. That combined with vague phrases like “slightly higher” or “low likelihood” without a solid reference to a baseline metric made me question the entire thing. On the other end of the scale, in some section of the report they got really specific by naming individual alleles and whipping up a frenzy of scientific buzzwords out of context.
A dramatic reading of one of the disease results to an audience of biologists and other scientist friends made them laugh and scratch their heads. “What are they trying to tell you here?” So it wasn’t merely a well-read layperson’s confusion. This report was poorly designed and written.
Counselling
The genetic counselling session made up for some of the confusion. Since I’d spent hours reading and researching my results, I was prepared. I guess not everyone is, because my counsellor asked if I’d read the report.
We went through each test and discussed the details. She asked about my family history again and expressed concern for my drinking habits, especially paired with the “slightly reduced avoidance of errors and increased risk for addictive behaviour” result. This sounds worse than it is, truly, but alcoholism does run in the family. So I am mindful of my alcohol use.
One surreal moment for both me and the counsellor was when we got to the Resilience section. She asked me if I thought I was resilient. I answered with an anecdote: five minutes before we started our session, my husband in Japan told me that our cat had died in an accident. I was in shock and grief for a moment, then looked at the time and set aside the sadness so that I could take the call. So yes, I am resilient. (And I am not heartless, I mourned my sweet Fatbro later when time was my own.)
Following up
One of the outcomes of the counselling session was a follow-up report recommending specific blood tests and other exams to assess my current condition. These were suggested as a baseline metrics assessment and to possibly catch any conditions early.
All of my blood tests came back in the normal range, so I have no concerns about imminent health issues related to my genetics. Who knows what the future holds? I could end up with ankylosing spondylitis after all, but I’m not going to worry about it today.
Conclusion
Genetic testing is a fascinating look into your body’s details, but as a diagnostic tool it isn’t conclusive, it’s imprecise, and there is no way of knowing if your test results are accurate or not.
To be honest, there are so many other factors that impact your health that there is a high probability that some condition not flagged in your genetic report could be the thing that eventually kills you.
Go ahead and do it if you are curious, or if you have concerns about conditions that run in your family. But be sure to take your results with a grain of salt.
