
23andMe finds Parkinsons only 24% heritable - tokenadult
http://independentsciencenews.org/news/23andme-disproves-its-own-business-model/
======
ghshephard
I'm distressed by the attitude towards 23andMe's research - isn't good science
supposed to report all results, regardless of whether they support the desired
hypothesis? Isn't it useful to discover the negatives as well as the
positives?

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...

~~~
danilocampos
I think the issue is more that according to their research, the service can't
use its genetic testing to give you a heads-up about upcoming disease in your
physiology, which is one of the big sells of 23andMe.

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.

~~~
kenthorvath
"the service can't use its genetic testing to give you a heads-up about
upcoming disease in your physiology, which is one of the big sells of 23andMe"

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.

~~~
kyro
I was with you until your last paragraph. You're not a "crankpot" if you're
pushing for rigorous scientific research and transparency. Yes, there are
currently identifiable alleles that indicate specific diseases or
predispositions, but there are a whole multitude of factors beyond the basic,
linear assembly of nucleotides that contribute to the development of a disease
– epigenetics being a big one at the moment.

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.

~~~
kenthorvath
You're right of course. There are certainly other factors, and scientific
rigor is a Good Thing (tm).

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.

------
jdvolz
Horrible headline.

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?

~~~
wccrawford
I've always been impressed with how honest their data seems to be on diseases.
They made it very clear up front that it's all trial-and-error and they're
doing the best they can with the data they have, and that advances are made
all the time.

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.

~~~
rhplus
Their business model for folks who got in on the $99 deal now seems be "Want
to know your Alzheimer's risk? Pay more to get your DNA resequenced with our
latest tools!"

How much is more? Another $299.

~~~
novas0x2a
Citation? I got in on the $99 + $5/mo deal at Christmas, and I have not once
received an upsell request. I have, however, received updated results every
month since then. Now, either they're holding results back in order to keep me
on the hook, or they're actually running new tests as new papers are
published.

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.

------
temphn
A similar set of assertions by her fellow traveler Latham was debunked by the
scientific community a few months ago:

[http://www.genomesunzipped.org/2011/04/the-genome-hasnt-
fail...](http://www.genomesunzipped.org/2011/04/the-genome-hasnt-failed.php)

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).

~~~
tokenadult
I've shared the link you've kindly shared with the scientist who posted the
link I posted here to an email list including participants in a behavioral
genetics seminar.

[http://www.psych.umn.edu/courses/fall10/psy8935/syllabus_spr...](http://www.psych.umn.edu/courses/fall10/psy8935/syllabus_spring_11.pdf)

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.

~~~
temphn
Thanks, tokenadult. We surely disagree about many things but you are indeed a
seeker of truth.

------
scythe
Just as relevant, to me: _they were honest about their findings_. Compare this
to all of the highly flawed studies that some companies have pushed into
journals in the past two decades.

~~~
danielharan
+1

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.

------
DarkShikari
Good article, sensationalist headline. They demonstrated that existing genetic
predictors of _a single disease_ were not much better than random selection.
23andMe's business model does not solely rely on the prediction of
Parksinson's Disease risk.

------
earino
This paper should be published in the Journal In Support Of The Null
Hypothesis. It's just a valid a conclusion and good job by 23andme. I am a
customer and I will continue to be a customer of theirs for the foreseeable
future.

------
streptomycin
> 23andMe’s paper includes a new estimate that the heritability of Parkinson’s
> Disease is 23% (suggesting that 77% of the variance will never be explained
> by genes, but that missing genes yet to be discovered account for a further
> 16%).

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.

------
Estragon
Haven't read the paper, yet, but if they've really established heritability of
Parkinson's risk, that is a positive result in itself. The first hit for a
Parkinson's Disease twin study suggests that genetic factors play a limited
role in the disease's etiology, at least in late onset:

<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.

------
aklein
I've done 23andMe. I would never rely on its results for disease prediction. A
lot of their results read like a fortune cookie anyway. But it was interesting
to genetically verify my Ashkenazi Jewish heritage with a maternal haplotype
that is traceable to a group from the middle east around the beginnings of
Judeo-Christianity. This was awesome, considering I could only trace my roots
back about four generations prior to 23andMe.

~~~
brianleb
You shouldn't _rely_ on the results, certainly, but I don't think they should
be taken with a grain of salt. I would suggest the problem with most people
(and I'm not claiming to know your background) is that they aren't familiar
with the statistics used in reporting the risks. For 23andMe, these are
basically just relative risk and absolute risk. But when you look at relative
risk (I'm five times as likely to develop Type 1 diabetes), it's much more
upsetting than the absolute risk (my risk is 5% over my lifetime instead of
the usual 1%). I do think they try and mitigate it with their population
pictures (100 figures and X many are colored in to show your likelihood) but I
think that at the heart of it their user base (and the population at large)
just doesn't really understand statistics well.

------
StavrosK
I'm torn between upvoting this for good science and downvoting it for bad
title, so I'll leave it as is.

------
dmazin
So is Brin going to stop worrying about Parkinsons?

~~~
btcoal
No. As the article states, he has a particular form of Parkinsons unique to
his ethnic group that is extremely heritable.

~~~
dmazin
Thank you.

------
a_dy
* Parkinsons found only to be 24% heritable using genes known to be associated with Parkinson and also not taking into account epigenetics

