Дослідження генетичних підвалин хвороби Паркінсона
What a 23andMe Test Revealed About My Genetics and Ancestry
When the Michael J. Fox Foundation and DNA-testing company 23andMe collaborated to gather genetic data for Parkinson’s research, I quickly signed up. Using 23andMe’s service would allow me to both learn about my ancestry and contribute to important research. It was a win for everyone.
But I also had questions. How much information was too much information? How much did I really want to know?
I had a plan. Discover my ancestry and allow all of my results to be included in the research study? Yes. Access and read the additional reports on my risk factors? No. Learn that I have a genetic variant that may affect my sons? No.
The ancestry report was what I expected — almost. My mother’s family is from Italy, and my father’s is from the former country of Czechoslovakia, Poland, and other parts of Eastern Europe. However, the chart had a tiny sliver that revealed I am 2% Ashkenazi Jewish. I shared the cool charts and graphs with my family and forgot about them.
A few months later, that 2% of my DNA became important for the Parkinson’s Progression Markers Initiative (PPMI), which aims to identify biomarkers of Parkinson’s disease progression. The study is recruiting people with Parkinson’s of Ashkenazi Jewish descent.
The moment of truth
If I wanted to enroll, I had to access the genetic report I had been avoiding and actually read it. Did I win the Parkinson’s lottery? Would a genetic variant be detected? Would my sons be at risk of developing the condition, adding another patch to the guilt quilt? The answers terrified me, but I am an advocate for research. If I qualify, I participate.
With trepidation, I clicked on the report results. I tried to avert my eyes, but a pop-up appeared on my screen. I was required to watch an informational video on Parkinson’s disease to access my report. Why? I know I have Parkinson’s.
Although it seemed silly, I watched the video. My heart grew heavy, thinking of others who watch it, too. Many of them may be learning about Parkinson’s for the first time. The video ended, and it was time for the moment of truth. What were my results?
LRRK2 and GBA genes: 0 variants detected.
I did not carry either variant tested. The guilt quilt was intact, no patches added.
Moving on to the study
The PPMI study coordinator at Indiana University reviewed my 23andMe Parkinson’s report. Although my genetic testing was negative for the variants, I still participated and spoke with a genetic counselor. Following are a few highlights of that conversation:
There are other genetic variants I wasn’t tested for.
- Genetics may play a larger role in young-onset Parkinson’s disease.
- Most cases of Parkinson’s don’t have a genetic cause.
- Having a genetic variant doesn’t guarantee a person will develop Parkinson’s, but it does increase their risk.
- Many other factors can influence one’s risk of developing Parkinson’s, including sex, age, family history, and chemical exposure.
The tiny 2% Ashkenazi Jewish part of my ancestry allowed me to face one of my many fears of the unknown. It took me much further down the genetic testing road than I wanted to go at this point in my life. However, it kept me on the Research Bus. Together, those of us with Parkinson’s are the most important passengers, and our last stop will be a cure.https://parkinsonsnewstoday.com/2021/06/03/23andme-genetic-testing-parkinsons-research/