Genetic testing results

[gomelgo]

I was tested by a PD gene program at Columbia Presbyterian and they found I have none of the 7 known mutations. They said that this is the case for 85% of people tested. I'm curious, have you been tested, and how many of you were negative for these mutations?

[G-Pixie]

Hi Mel,

The types of gene mutations in different types of PD are still being discovered. You have been ‘tested’ not ‘sequenced’… So they are just looking for the 7 genetic types they know of. What about the ones they’ve yet to discover? These will only be found over time through WGS (whole genome sequencing).

Most sequencing to date has been done in the wealthy west - predominantly on old white men. Even though we know there are more genetic causes linked with the YOPD community.

Results are inevitable going to seem poor if you are using the wrong technique (testing not sequencing) on the wrong people (old not young).

G xx

[Following_closely]

Hi Gomelgo (and G-Pixie),

I think I participated in the same program as you. If so, we both had our entire "exomes" sequenced. That's not the same thing as having our entire genomes sequenced because the exome contains only the sequences of the expressed portions of the 20 to 25 thousand known human genes, which is a small fraction of the 3 billion base pairs of DNA in our genomes. Still, it is a sequence rather than just a test and it provides the opportunity for researchers to identify new mutations in genes that they didn't know to test for at the time we enrolled.

The program is called PDGENEration. You can read about it and sign up here:

parkinson.org/advancing-res...

Like you, I did this through Columbia. However, I chose it because it was one of the sites that offered a virtual examination, which is required at the time of enrollment. All I needed was a web camera and to submit an oral sample for DNA isolation.

G-Pixie,

If you're part of the YOPD community, I encourage you to spread the word. I don't remember if there's a requirement for US citizenship or residence, but I don't think there is. I'm sure they would love to have more women and non-whites sign up.

I would, however, encourage anyone who's interested to sign up, even if you are an "old white man" or old man of any other race. I was ~55 when I enrolled and probably don't qualify as YOPD, but there is a strong genetic linkage in my family. In addition, we won't know until we look, but my guess is that there are plenty more PD genes waiting to be discovered in the more typical PwP--older men (of all races). So, again, please consider signing up.

[gomelgo in reply to Following_closely]

I did it mostly out of sheer curiosity. Also because I do believe I got this as a result of an array of coinciding factors, a perfect storm of sorts, has caused this condition I have, which I am still loathe to call by any name. I was diagnosed in May, by someone with ZERO empathy or understanding of the impact his words had. In my case, there was a huge amount of stress for over 2 years leading up to these tremors. In addition, many neighbors liberally spraying round up, not to mention that I was living at the bottom of a mountain where on top of me were plenty of agricultural areas. Then I got severe COVID before anyone knew there was a pandemic coming. And then I needed to rescue my very toxic mom from her guardian and the nursing home ... all while having to sell my beloved house of 16 years, and moving back to a very stressful and stressed out city. I kept thinking "if this doesn't kill me, I don't know what will". All this to say that I don't think genes should be the primary focus, but that they can get activated with all the hell we are currently all putting ourselves through on a global level.

[amykp]

I did 23&Me early (right when the company started, and I was in my 50's) and discovered through them that I carried a gene for PD.

The instant I found that out I did a bit of research, realized the strange feeling in my hand and loss of sense of smell might actually mean something, and ran off to a neurologist.

I credit the company with my early diagnosis and my ability to take charge (diet/exercise/antioxidants) right from the beginning. My disease course has been very slow.

My daughter and younger sister also know now they carry the gene, and are vigilant.

I heard (?) that 23&Me is no longer allowed to give customers that kind of medical information. If that's true, it's a shame.

[gomelgo in reply to amykp]

I hope that is not so! Maybe it's that they need to have a medical professional mediate the delivery of such huge news?

[amykp in reply to gomelgo]

Agree. Though I should make sure it's true before saying so.

[Following_closely]

Hi Gomelgo,

I'm sorry to hear what you've been through. If you have a causal mutation in one of the genes that has been identified, then you have at least part of the answer of what caused it. If not, there few other factors that are unequivocally linked, so we're left to guess.

Best of luck to you and I hope you've found a neurologist or movement disorder specialist that you're happy with.

[gomelgo in reply to Following_closely]

as I think I mentioned in my original post, I was found to have NONE of the known mutations. So it's either a mutation that is yet undiscovered, or environmental, or maybe even COVID related. There is plenty of evidence linking COVID to neuro symptoms of all sorts.

[Following_closely]

Hi Amykp,

I signed up for 23andMe when some group (I believe it was Michael J. Fox's) was covering the cost of joining if you had a family history. I just checked today, and 23andMe is telling me the same thing it did when I first signed up--that 0 variants were detected in the LRRK2 and GBA genes for PD. I assume they would tell me if a variant was detected. It looks like my report lists PD as one of 14 "health predispositions" for which they indicate whether or not a variant that would put me at greater risk was detected.

[amykp]

Yes, MJF was how my sister did it, and they sent her back a positive, so I'm assuming they would've for you too...if you'd had one.

The way it was for me, 23&Me had a section you could "unlock" (click) that had sensitive health information, like genes for breast cancer, Alzheimer's, etc.

The stuff you could see without clicking was interesting but not life-threatening, like: "more or less likely to like cilantro." or "have curly hair."