# Why should spend, or not spend, $99 on 23andme?

**URL:** <https://boards.straightdope.com/t/why-should-spend-or-not-spend-99-on-23andme/649576>\
**Category:** In My Humble Opinion\
**Created:** [February 7, 2013, 10:53am UTC](https://boards.straightdope.com/t/why-should-spend-or-not-spend-99-on-23andme/649576 "2013-02-07T10:53:37Z")\
**Posts on this page:** 20\
**Page:** 3

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**Author:** ![dasmoocher](https://avatars.discourse-cdn.com/v4/letter/d/dbc845/32.png) [@dasmoocher](https://boards.straightdope.com/u/dasmoocher)\
**Post date:** [November 25, 2013, 10:19pm UTC](https://boards.straightdope.com/t/why-should-spend-or-not-spend-99-on-23andme/649576/41 "2013-11-25T22:19:33Z")

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> [@Chimera](#):
>
> [Here](http://boards.straightdope.com/sdmb/showthread.php?t=706667)

Thanks. I’d seen that.

I thought I’d also mention that one problem with data mining is a lot of the information can be crap and/or mis-annotated.

I think I saw a stat once that said something like 30% of the sequences in GenBank were incorrectly identified.

I took a bioinformatics course once and one assignment was to identify a DNA sequence. Simple enough–just BLAST it. Let’s say it came up as matching the human Fluxomioma gene. The trick of the assignment was to use other tools and correctly identify the sequence as being primarily a DNA vector sequence–contamination–that some idiot had submitted and called human Fluxomioma gene.

That’s why the better databases, and probably all of the commercial proprietary databases, are manually curated in some fashion. It’s a big selling point.

To use Company X as an example, just because I’ve used some of their software:

> [@](#):
>
> All of [Company X’s] solutions leverage the [database], a repository of expertly curated biological interactions and functional annotations created from millions of individually modeled relationships between proteins, genes, complexes, cells, tissues, drugs, and diseases. These modeled relationships, or [snip], include rich details, links to the original article, and are reviewed for accuracy by PhD scientists.

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**Author:** ![ThelmaLou](https://sea3.discourse-cdn.com/straightdope/user_avatar/boards.straightdope.com/thelmalou/32/390_2.png) [@ThelmaLou](https://boards.straightdope.com/u/ThelmaLou)\
**Post date:** [November 26, 2013, 1:39am UTC](https://boards.straightdope.com/t/why-should-spend-or-not-spend-99-on-23andme/649576/42 "2013-11-26T01:39:59Z")

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From NPR: [“FDA Tells 23andMe To Stop Selling Popular Genetic Test”](http://www.npr.org/blogs/health/2013/11/25/247198237/fda-tells-23andme-to-stop-selling-popular-genetic-test)

The article begins:

> [@](#):
>
> You don’t need to be an expert in the regulations covering medical tests to know that the Food and Drug Administration has just about had it with Silicon Valley’s .
> 
> The agency told the seller of a personalized genomic test to knock it off in a sternly worded warning . The 23andMe spit kit and personal genome service, or PGS, are being marketed without FDA’s blessing, the letter says. “Therefore, 23andMe must immediately discontinue marketing the PGS until such time as it receives FDA marketing authorization for the device,” the agency concludes.
> 
> The if your kids are at risk for a range of inherited health conditions, your own genetic health risks and even how you’re likely to respond to certain drugs.
> 
> That last claim really peeved FDA. People’s genes can affect how they’ll respond to blood thinners and cancer drugs, such as . But how accurate are the test’s results? And even if they are spot on, what if someone taking one of the drugs stopped or adjusted the dose after looking at the test results and before consulting a doctor? Changes like those pose a serious risk of injury or death, the agency says.
> 
> 23andMe has filed paperwork with the FDA about the tests, but evidently not enough to satisfy the agency. And, to make matters worse, the FDA says it hasn’t heard from the company since May.

There’s more and a whole lot of listener/reader comments, too.

Of course, the fact that the FDA is against something doesn’t mean there’s anything wrong with it.

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**Author:** ![Roderick\_Femm](https://sea3.discourse-cdn.com/straightdope/user_avatar/boards.straightdope.com/roderick_femm/32/14875_2.png) [@Roderick\_Femm](https://boards.straightdope.com/u/Roderick_Femm)\
**Post date:** [November 26, 2013, 5:24am UTC](https://boards.straightdope.com/t/why-should-spend-or-not-spend-99-on-23andme/649576/43 "2013-11-26T05:24:41Z")

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They’re in the middle of testing my sample. I hope I still get the results (some of which I will now take with a little more salt).  
Roddy

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**Author:** ![dasmoocher](https://avatars.discourse-cdn.com/v4/letter/d/dbc845/32.png) [@dasmoocher](https://boards.straightdope.com/u/dasmoocher)\
**Post date:** [November 26, 2013, 5:42am UTC](https://boards.straightdope.com/t/why-should-spend-or-not-spend-99-on-23andme/649576/44 "2013-11-26T05:42:12Z")

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> [@Roderick\_Femm](#):
>
> They’re in the middle of testing my sample. I hope I still get the results (some of which I will now take with a little more salt).  
> Roddy

Just be sure to check your report for susceptibility to stroke and cardiovascular disease gene variants, first. 😃

[Salt intake, stroke, and cardiovascular disease: meta-analysis of prospective studies](http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2782060/)

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**Author:** ![Alba](https://avatars.discourse-cdn.com/v4/letter/a/ea666f/32.png) [@Alba](https://boards.straightdope.com/u/Alba)\
**Post date:** [November 26, 2013, 9:55am UTC](https://boards.straightdope.com/t/why-should-spend-or-not-spend-99-on-23andme/649576/45 "2013-11-26T09:55:25Z")

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I was also thinking about doing this. But I’m concerned about companies (especially US companies) having access to my DNA and with that hackers/governments/criminals.

What if Skynet\* ever comes into power and wants to clean the world. Should I be worried?

\*Skynet, NSA, future covert organisations,etc.

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**Author:** ![lazybratsche](https://avatars.discourse-cdn.com/v4/letter/l/ba8739/32.png) [@lazybratsche](https://boards.straightdope.com/u/lazybratsche)\
**Post date:** [November 26, 2013, 3:06pm UTC](https://boards.straightdope.com/t/why-should-spend-or-not-spend-99-on-23andme/649576/46 "2013-11-26T15:06:41Z")

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> [@dasmoocher](#):
>
> I thought I’d also mention that one problem with data mining is a lot of the information can be crap and/or mis-annotated.
> 
> I think I saw a stat once that said something like 30% of the sequences in GenBank were incorrectly identified.
> 
> I took a bioinformatics course once and one assignment was to identify a DNA sequence. Simple enough–just BLAST it. Let’s say it came up as matching the human Fluxomioma gene. The trick of the assignment was to use other tools and correctly identify the sequence as being primarily a DNA vector sequence–contamination–that some idiot had submitted and called human Fluxomioma gene.

[hijack]  
Oh god yes, the amount of shit out there is mind-boggling. I once helped someone troubleshoot an RNA-seq experiment which had 90% of the sequences that didn’t map to the correct organism’s genome. After talking in circles for a while, I just told her to BLAST a bunch of the non-mapping reads. All of these reads matched genomic sequences from a truly random grab bag of organisms. I recall some sort of marine parasite, an endangered species of tree, and about a dozen other organisms.

After much more troubleshooting, it turns out that these sequences were added by the library preparation kit. Now these were NOT the Illumina adapters or barcodes, but another set of _proprietary_ adapters that were added by the kit and supposed to be removed during the library preparation. Apparently these adapter sequences can concatamerize and completely take over the library. The company that made the kit _never disclosed the sequence of their adapters_, which made it impossible to completely remove them from the sequencing results.

But several research groups _never even bothered to figure this out_, and published genomic sequences that are almost entirely comprised of concatamers of proprietary DNA sequences. It’s not just isolated contigs, either: since some of the adapter sequences are attached to real reads, there are giant chunks of concatamer shit in the middle of otherwise plausible looking genes.

Sometimes I feel like giving a biologist access to a next-gen sequencer is akin to handing loading guns to a preschool class.  
[/hijack]

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**Author:** ![lazybratsche](https://avatars.discourse-cdn.com/v4/letter/l/ba8739/32.png) [@lazybratsche](https://boards.straightdope.com/u/lazybratsche)\
**Post date:** [November 26, 2013, 3:17pm UTC](https://boards.straightdope.com/t/why-should-spend-or-not-spend-99-on-23andme/649576/47 "2013-11-26T15:17:10Z")

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Back on topic:

Let’s say 23andme identifies a rare genetic variant, and tells you that it’s associated with Fluxomioma. If you dig, it could easily turn out that the only study demonstrating this association was published by the University of East Elbonia, West Elbonia Campus. And their sample consists of twenty people with Fluxomioma in the nearest hospital, while the control group was twenty friends and family of the graduate students tasked with getting samples.

For every variant that 23andme reports, you have to trust that (1) their technology correctly identified it, (2) 23andme gives you an accurate summary of the scientific literature on that variant, (3) the literature includes reliable studies, and (4) that the studies can be generalized to your circumstance.

That gene variant may actually cause Fluxomioma only in a tiny isolated village in East-West Elbonia where the population has remained isolated for centuries.

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**Author:** ![dasmoocher](https://avatars.discourse-cdn.com/v4/letter/d/dbc845/32.png) [@dasmoocher](https://boards.straightdope.com/u/dasmoocher)\
**Post date:** [November 26, 2013, 5:26pm UTC](https://boards.straightdope.com/t/why-should-spend-or-not-spend-99-on-23andme/649576/48 "2013-11-26T17:26:50Z")

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> [@lazybratsche](#):
>
> [hijack]Sometimes I feel like giving a biologist access to a next-gen sequencer is akin to handing loading guns to a preschool class.  
> [/hijack]

Sorta related. I once worked with someone who had a favorite gene. It hadn’t been found conclusively in the model organism (another class of vertebrate) she was working with, but had in mammals. One (and only one) group had a paper saying they had found this gene and another group, who actually was involved in the genomic sequencing, had trashed it pretty convincingly.

The sequence the first group had reported was like 95% identical to human, while the similarity between human and mouse (and rat) was like 80%. It was unlikely that the gene would be more similar between organisms in different classes than within.

However, the first group submitted their sequence and so she found it in a search.

“This proves that the organism has the gene!!!” she triumphantly exclaimed. “I am right! You all now look foolish for doubting this/me!”

I asked her what her search results would be if someone took that sequence, changed a few nucleotides, changed the species name, and submitted it. Would that prove the the new species had the gene? Because, according to her criteria, it would.

Any hints for me on who made the kit with the concatemers?

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**Author:** ![lazybratsche](https://avatars.discourse-cdn.com/v4/letter/l/ba8739/32.png) [@lazybratsche](https://boards.straightdope.com/u/lazybratsche)\
**Post date:** [November 26, 2013, 5:44pm UTC](https://boards.straightdope.com/t/why-should-spend-or-not-spend-99-on-23andme/649576/49 "2013-11-26T17:44:02Z")

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Eh, what the hell. The group with this problem published some of their efforts to clean up the concatamer mess and a quick google reveals other people discussing the same problem. It was a Clontech SMART cDNA synthesis kit (not the library prep kit, I mis-remembered). Therefore the spurious BLAST hits must have been transcriptome rather than genome sequences.

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**Author:** ![Jackmannii](https://sea3.discourse-cdn.com/straightdope/user_avatar/boards.straightdope.com/jackmannii/32/311_2.png) [@Jackmannii](https://boards.straightdope.com/u/Jackmannii)\
**Post date:** [November 26, 2013, 6:29pm UTC](https://boards.straightdope.com/t/why-should-spend-or-not-spend-99-on-23andme/649576/50 "2013-11-26T18:29:01Z")

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> [@ThelmaLou](#):
>
> Of course, the fact that the FDA is against something doesn’t mean there’s anything wrong with it.

What the FDA is “against” is any company making health claims or recommendations based on non-validated tests and/or unapproved drugs.

There’s a lot of potential for abuse, unnecessary patient anxiety and unneeded followup tests and interventions here.

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**Author:** ![Isilder](https://avatars.discourse-cdn.com/v4/letter/i/cc9497/32.png) [@Isilder](https://boards.straightdope.com/u/Isilder)\
**Post date:** [November 28, 2013, 11:45am UTC](https://boards.straightdope.com/t/why-should-spend-or-not-spend-99-on-23andme/649576/51 "2013-11-28T11:45:30Z")

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> [@lazybratsche](#):
>
> That gene variant may actually cause Fluxomioma only in a tiny isolated village in East-West Elbonia where the population has remained isolated for centuries.

or worse, merely be a correlation not a causation.

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**Author:** ![ThelmaLou](https://sea3.discourse-cdn.com/straightdope/user_avatar/boards.straightdope.com/thelmalou/32/390_2.png) [@ThelmaLou](https://boards.straightdope.com/u/ThelmaLou)\
**Post date:** [November 28, 2013, 1:10pm UTC](https://boards.straightdope.com/t/why-should-spend-or-not-spend-99-on-23andme/649576/52 "2013-11-28T13:10:28Z")

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> [@Jackmannii](#):
>
> What the FDA is “against” is any company making health claims or recommendations based on non-validated tests and/or unapproved drugs.
> 
> There’s a lot of potential for abuse, unnecessary patient anxiety and unneeded followup tests and interventions here.

No argument here on any of your statements. The potential for screwing up is enormous.

However, _out of context_, my statement stands, too.

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**Author:** ![Hippy\_Hollow](https://sea3.discourse-cdn.com/straightdope/user_avatar/boards.straightdope.com/hippy_hollow/32/4841_2.png) [@Hippy\_Hollow](https://boards.straightdope.com/u/Hippy_Hollow)\
**Post date:** [November 28, 2013, 1:24pm UTC](https://boards.straightdope.com/t/why-should-spend-or-not-spend-99-on-23andme/649576/53 "2013-11-28T13:24:45Z")

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I had it done out of curiosity and for fun. I’m not so daft to think because I got a note about some genetic disorder that I’d take it as gospel. I’d go to a doctor and have it checked out.

I haven’t done as much as I should with it. I loved finding out my ancestry (a fraction Eastern European Jewish, East Asian - as a US born Black dude didn’t see that coming) and a few distant relatives that are way more into this than I am.

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**Author:** ![DSeid](https://sea3.discourse-cdn.com/straightdope/user_avatar/boards.straightdope.com/dseid/32/20194_2.png) [@DSeid](https://boards.straightdope.com/u/DSeid)\
**Post date:** [November 28, 2013, 3:37pm UTC](https://boards.straightdope.com/t/why-should-spend-or-not-spend-99-on-23andme/649576/54 "2013-11-28T15:37:17Z")

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Meh. They do a pretty good job of explaining that there is a fair amount of uncertainty on many items and of grading the degree of confidence they have in the research reports that base their disease risk descriptions. The overstep seems mild to me. The believing that they did not need to follow all the rules (that are in place for good reasons) was hubris likely a result of the Google association. They’ll recover.

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**Author:** ![aruvqan](https://sea3.discourse-cdn.com/straightdope/user_avatar/boards.straightdope.com/aruvqan/32/2891_2.png) [@aruvqan](https://boards.straightdope.com/u/aruvqan)\
**Post date:** [November 28, 2013, 5:07pm UTC](https://boards.straightdope.com/t/why-should-spend-or-not-spend-99-on-23andme/649576/55 "2013-11-28T17:07:15Z")

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Of the two I would only be interested in the National Geographic one, I am more interested in where we have genetic input from. I already knows that parkinsons pretty much runs rampant on one side of the family, and alzheimers runs on the other. 2 of 3 brothers [father and one uncle] had wet macular degeneration. So I am pretty hosed medically speaking. [I already have neurological issues starting but they are very minor and being watched.]

We do actually have roughly 400 years of geneology on my Mom’s side, and roughly 800 on my Dad’s side [one vine has been traced in church and tax documents and grave markers back to the mid 1100s in northern France only because that vine was lesser nobility and kept records for inheritance purposes. Where there us a will there is a greedy relative :smack: Though it was interesting seeing the ping ponging back and forth across the borders of what are now the Netherlands, Belgium, Flanders and the Nord-Pas de Calais region.]

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**Author:** ![dasmoocher](https://avatars.discourse-cdn.com/v4/letter/d/dbc845/32.png) [@dasmoocher](https://boards.straightdope.com/u/dasmoocher)\
**Post date:** [November 28, 2013, 7:07pm UTC](https://boards.straightdope.com/t/why-should-spend-or-not-spend-99-on-23andme/649576/56 "2013-11-28T19:07:16Z")

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> [@DSeid](#):
>
> The believing that they did not need to follow all the rules (that are in place for good reasons) was hubris likely a result of the Google association. They’ll recover.

Yeah, this occurred to me too, since in one sense they were literally in bed together.

Being disregarded also seems to have the FDA’s bureaucratic dander up. The letter read like “You’ve been blowing us off so maybe this will get your attention”.

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**Author:** ![Rhythmdvl](https://avatars.discourse-cdn.com/v4/letter/r/85f322/32.png) [@Rhythmdvl](https://boards.straightdope.com/u/Rhythmdvl)\
**Post date:** [December 4, 2013, 5:42am UTC](https://boards.straightdope.com/t/why-should-spend-or-not-spend-99-on-23andme/649576/57 "2013-12-04T05:42:10Z")

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Update:  
[Gene testing firm 23andMe halts marketing](http://www.bbc.co.uk/news/science-environment-25209956)

> [@](#):
>
> US genetic testing firm 23andMe, which is backed by Google, has stopped marketing its at-home kit, a company spokeswoman has said.
> 
> It halted television, radio and online advertising for its $99 (£60) personal genome analysis product last week.
> 
> The move follows a warning letter filed by the US Food and Drug Administration (FDA) last month.
> 
> The spit test is supposed to provide details about a person’s health risks based on gene variants they carry.
> 
> The FDA ordered 23andMe to “immediately discontinue” its Saliva Collection Kit and Personal Genome Service (PGS) because it had failed to provide adequate information to support the claims made in the company’s marketing.

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**Author:** ![Marion\_Wormer](https://avatars.discourse-cdn.com/v4/letter/m/d07c76/32.png) [@Marion\_Wormer](https://boards.straightdope.com/u/Marion_Wormer)\
**Post date:** [December 4, 2013, 6:57pm UTC](https://boards.straightdope.com/t/why-should-spend-or-not-spend-99-on-23andme/649576/58 "2013-12-04T18:57:02Z")

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> [@Jackmannii](#):
>
> What the FDA is “against” is any company making health claims or recommendations based on non-validated tests and/or unapproved drugs.
> 
> There’s a lot of potential for abuse, unnecessary patient anxiety and unneeded followup tests and interventions here.

I agree. I work with statistics and probability a lot in my business. My experience with MDs and those in the gene analysis biz is that they wouldn’t know a statistically valid piece of analysis if it came up and bit them.

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**Author:** ![Chimera](https://avatars.discourse-cdn.com/v4/letter/c/8e8cbc/32.png) [@Chimera](https://boards.straightdope.com/u/Chimera)\
**Post date:** [December 4, 2013, 9:26pm UTC](https://boards.straightdope.com/t/why-should-spend-or-not-spend-99-on-23andme/649576/59 "2013-12-04T21:26:01Z")

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But if it did bite them, could they get a DNA sample?

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**Author:** ![dasmoocher](https://avatars.discourse-cdn.com/v4/letter/d/dbc845/32.png) [@dasmoocher](https://boards.straightdope.com/u/dasmoocher)\
**Post date:** [December 5, 2013, 9:01am UTC](https://boards.straightdope.com/t/why-should-spend-or-not-spend-99-on-23andme/649576/60 "2013-12-05T09:01:54Z")

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> [@Marion\_Wormer](#):
>
> I agree. I work with statistics and probability a lot in my business. My experience with MDs and those in the gene analysis biz is that they wouldn’t know a statistically valid piece of analysis if it came up and bit them.

Well, to be fair, 23andme does look to hire statisticians. I posted this job description in Post #39:

> [@](#):
>
> They hire people to do this. As of today, they’re looking for a Statistical Geneticist for Parkinson’s Disease:
> 
> > [@](#):
> >
> > At 23andMe, we believe that the current crop of genetic association studies is just the beginning of a tidal wave of discovery in genetics and neurodegenerative diseases. We are looking for a colleague with the statistical expertise to handle the world’s largest genetic database of Parkinson’s patients and make a meaningful contribution to Parkinson’s disease research.
> > 
> > Qualifications:  
> > Ph.D. in statistics, genetics, biostatistics, epidemiology, neuroscience or related field  
> > Proficiency with scripting languages such as Python or R  
> > Experience analyzing genetic data  
> > An interest in Parkinson’s disease and/or other neurological diseases  
> > Experience working with whole genome sequence data is a plus

On the other hand, I do agree with you that a lot of people doing research don’t have the first clue about statistics.

I worked in a lab where the PI was a MD, and most of the postdocs were MDs–so they actually had never had a lab position or done bench-top research prior to their postdocs. They had about as much experience with statistics as they did with pipetting. We had a lab meeting once where the PI asked what a p-value was and I was the only person out 12 of people at the table who could correctly tell him (somebody actually said it proved your experiment worked technically, if it was less than 0.05).

This lab once published a paper where they reported their experimental replication as “n=a pool of 50 samples”.

For my friends, I used the analogy of "You’ve seen those commercials where the actor says “I’m not a doctor, but I play one on TV’. These people are like ‘I’m not a scientist, but I play one at work’.”

So, I think the FDA does have a legitimate concern about the general public (or even MDs) trying to interpret “health recommendations” based on the genotyping in these reports.

I think the Illumina SNP platform they use for genotyping is reliable, it’s just not approved for this purpose.

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