23andMe finds Parkinsons only 24% heritable
independentsciencenews.org
independentsciencenews.org
I've been a customer of 23andme for 3 years, and they've always been very forthright about providing guidance on what you really could discern from the results they provide, including a measure of the strength of the scientific evidence that provided probabilities of you getting this disease or that one.
Personally, the highlights for me where when my Brother, Mother, Niece and Nephew tossed their results into 23andme, and it instantly identified them as relatives, and what their relationship to me was - without any last names or locations to go on. (Though admittedly, my niece and nephew were identified as "Niece/Aunt, Nephew/Uncle)
I've been happy with the sober, reasonable, and conservative approach that 23andme has taken. "Genewatch" on the other hand, sounds like they have an axe to grind - they certainly lost credibility with me based on the comments I read. Not sure what their issue is...
Where does the article say that 23andMe shouldn't have published their results? That has nothing to do with what this is about.
Of course, this is one study and one disease, and maybe other stuff will come out that validates the approach. (I have no dog in this fight)
But you point out an interesting fact: perhaps the biggest value they're providing is simple introspection, using tools we didn't have in the past. For me, understanding how my ancestry fits into the world and its history would be more than enough incentive to use 23andMe, depending on how much detail the science and the data set can offer.
Nonsense - I have a common variant of one blood clotting factor known to be responsible for a greatly increased risk of deep vein thrombosis and life threatening pulmonary embolisms. My mother has the same autosomal dominant gene.
She was hospitalized for DVT and PE following a knee surgery, was genetically tested and found positive.
23andme identified me as being a carrier of said mutation and followup genetic sequencing confirmed the diagnosis.
Now I know, with certainty, that I must periodically get up and move around during long car rides and plain flights or risk a life threatening event.
Health-related discoveries aside, there are countless things to be analyzed from 23andme data, including ancestry and data mining for correlation with biometrics (imagine being able to reconstruct facial images based on dna samples alone).
There are always hypercritical crankpots to speak out against any new technology. If only these people would imagine constructive ways to make use of this so-called "useless" data.
Innovate people.
The tech is definitely cool and a step forward in delivering a detailed and granular view of disease predisposition, but that view certainly does not give you the entire picture.
23andMe makes a very good job of notifying you about this per disease they have markers for.
However, I've found that the older the scientist, the more his or her disposition to say "no" to new ideas - either because the idea is untested or because it flies in the face of their already preconceived biases they've been amassing over their lifetime.
It's often said that science advances funeral by funeral. I think it's more of an indictment about human nature, and the nature of aging, than any particular individual.
When I was an undergraduate, I mentioned 23andme in class - the class had 3 professors. The oldest professor was completely against it: "Why would anyone want their SNPs mapped? It would be useless, at best, and potentially dangerous." The youngest professor was enthusiastic and optimistic about the future: "How much and where do I sign up?", and the middle aged professor was somewhere in between: "The data probably isn't very useful right now, and I think I'll wait until it comes down in price."
Of course, without people pushing the boundaries, and amassing the data, there would be no discoveries. There is nothing wrong with scientific rigor, but I come down hard against those who allow rigor to get in the way of discovery. Sometimes anecdotes are the basis of major discoveries - not all studies need to start out double-blind with huge sample sizes, but the important ones should definitely end up that way.
k.
"Of course, this is one study and one disease, and maybe other stuff will come out that validates the approach. (I have no dog in this fight)"
I'm now more inclined to buy from 23andMe than I was before because I know they are doing legitimate science and reporting the results without prejudice.
Questions:
[1] Wouldn't it be worth funding this company just to find this out about Parkinson's disease?
[2] Is this a reason for them to pivot or adjust their marketing to talk about what their service does do well?
I doubt I would ever have paid full price for the service, but I got in during a sale and have been quite pleased for the money.
How much is more? Another $299.
I just checked a few of my recently-updated results, and all of them had new papers cited with recent publish dates. I spot-checked a few upstream from the most recent update, and it seems that half of the updated results had papers published in the last three months, and half of those were published in June.
I don't know where you got your information, but I've been quite happy with 23andme.
> How much is more? Another $299.
Incorrect on all counts. Current cost of the service is $99 + $9/month subscription which you may cancel. You also have the option to "bank" your saliva/DNA so that when they come up with a new gene chip, you will have results from that without having to repay. You just have to keep up your subscription, obviously. Since I got my results back I think they've been pushing updates about once a month (probably not a coincidence, but I don't feel like checking the exact dates), both times having information on genes covering 5-10 new topics.
What you describe did exist back when they switched from the v1 to the v2 gene chip (and I think the price was $399 at the time, no subscription existed), but now (v3) they have figured things out. I got in on "DNA day" this past April and paid $0 + subscription (so $100 for a year) and I chose the option to bank it, etc.
Only if they plan to branch out from genotyping into other areas of science, as the article describes how their research shows the limits of this approach in Parkinson's disease.
http://www.genomesunzipped.org/2011/04/the-genome-hasnt-fail...
It should be noted that every paper 23andMe has curated to provide their risk calculations was originally published in a peer reviewed journal, often Science or Nature. It should also be emphasized that new methods (like the recent Visscher et al. manuscript) are starting to give considerable signal for predicting complex traits from genome sequence.
Take Genewatch with a grain of salt, they are activists rather than scientists and are infamous for trashing anything associated with genetics and genomics (whether GMO crops or complex trait research).
http://www.psych.umn.edu/courses/fall10/psy8935/syllabus_spr...
I suppose that part of what goes on in discussions like this is sorting out which findings are "significant" not just in the statistical sense but also in actual clinical practice.
I see Eric Turkheimer's faculty webpage
http://www.people.virginia.edu/~ent3c
is temporarily unavailable. (I have just emailed him about that.) That is usually a good source of links to current literature on behavioral genetics, the subject that prompts my interest in genetics literature.
Logging in to see my results for Parkinson's, they show a very low confidence interval - 3 grey stars. That seems very honest to me.
Instead, I'm glad they could use all this data to advance the state of the art, and will more likely trust them if they report on some diseases that are more linked to genetics.
That's not correct. There is more to heritability than just genes, so it is not at all guaranteed that the extra 16% can be accounted for by sequencing the rest of the genome.
Also, the headline is rather sensationalist as none of this is particularly surprising. GWAS studies have produced underwhelming results for many years.
http://jama.ama-assn.org/content/281/4/341.short
RESULTS: Of 268 twins with suspected parkinsonism and 250 presumed
unaffected twin brothers, 193 twins with PD were identified
(concordance-adjusted prevalence, 8.67/1000). In 71 MZ and 90 DZ pairs
with complete diagnoses, pairwise concordance was similar (0.129
overall, 0.155 MZ, 0.111 DZ; relative risk, 1.39; 95% confidence
interval, 0.63-3.1). In 16 pairs with diagnosis at or before age 50
years in at least 1 twin, MZ concordance was 1.0 (4 pairs), and DZ was
0.167 (relative risk, 6.0; 95% confidence interval, 1.69-21.26).
CONCLUSIONS: The similarity in concordance overall indicates that
genetic factors do not play a major role in causing typical PD. No
genetic component is evident when the disease begins after age 50
years. However, genetic factors appear to be important when disease
begins at or before age 50 years.