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Stopping 23andMe will only delay the revolution medicine needs

Genetic testing is a powerful tool. Two years ago, with the help of my colleagues, it was this tool that helped us identify a new disease. The disease, called Ogden Syndrome, caused the death of a four-month…

Welcome to nowhere, says FDA. widdowquinn

Genetic testing is a powerful tool. Two years ago, with the help of my colleagues, it was this tool that helped us identify a new disease. The disease, called Ogden Syndrome, caused the death of a four-month old child named Max. But the rules and regulations for genetic testing in the US, laid down in the CLIA (Clinical Laboratory Improvement Amendments), meant I could not share the results of the family’s genetic tests with them.

Since that time, I have advocated performing all genetic testing involving humans such that results can be returned to research participants. This I believe should extend beyond research, and some private companies, like 23andMe, are helping to do just that.

For as little as US$99, people around the world can send a sample of their saliva to 23andMe to get their DNA sequenced. Their Personal Genome Service (PGS) analyses parts of a person’s genome. This data is then compared with related scientific data and 23andMe’s own database of hundreds of thousands of individuals to spot genetic markers, which the company claims “reports on 240 health condition and traits”.

Today, however, as I had feared, the US Food and Drug Administration (FDA) has ordered 23andMe to stop marketing their service. In a warning letter, FDA said: “23andMe must immediately discontinue marketing the PGS until such time as it receives FDA marketing authorisation for the device.” By calling PGS “a device”, the FDA fears that people may self-medicate based on results they receive from 23andMe.

Somehow the US and UK governments find it acceptable to store massive amounts of data about their own citizens and that of the rest of the world. They are happy spending billions on such mass surveillance. But if the same people want to spend their own money to advance genomic medicine and possibly improve their own health in the process, they want to stop them.

There are many diseases that appear to occur in the presence of genetic mutations, with large effect in certain populations. A case in point is that of deltaF508 mutation in the CFTR gene, which is known to predispose people to cystic fibrosis, which causes scarring inside organs.

The expression of cystic fibrosis in each of these people is highly variable, but the presence of the mutations can certainly raise suspicion for this illness in individuals with any such symptoms. This is particularly the case when there is an already known instance of cystic fibrosis in the immediate family.

This is why carrier screening in families with diagnosed cases of such diseases is advocated. And yet, such screening is not commonly performed, even though it could decrease prevalence of affected infants.

Genetic data (or genotype) on its own is of little use. It is the correlation of how those genes manifest in people, which is their phenotype, that makes genotypes useful.

I dream of a world in which we have phenotype and genotype data on millions of individuals, so that we can really begin to better understand genotype-phenotype relationships.

Instead, we still live in the medical world described in the Pulitzer prize-winning novel Arrowsmith pubished in 1925, where doctors pretend to know far more than they actually do. The sad fact is that there is no way the FDA can evaluate and regulate each and every genetic variant in the billions of letters which make up the human genome that get variably expressed in trillions of cells in every human body.

We need to collect billions of data points for analysis by computers. The only company in major contention to do this soon is 23andMe. With FDA’s latest attempt to stop 23andMe, all it is really doing is delaying, or worse stopping, the revolution that today’s medicine desperately needs.

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7 Comments sorted by

  1. John Crest

    logged in via email @live.com.au

    Are you still able to avail yourself of the service 23andMe offers?

    The article states that the service can't be marketed, but doesn't state it can't be used,

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    1. Jack Orford

      Lawyer, Chemist

      In reply to John Crest

      In this context (pharmaceutical jargon) I believe "market" means "place on the market" -- ie sell.

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    2. Jack Orford

      Lawyer, Chemist

      In reply to John Crest

      Since 23andMe are effectively selling a sequencing service, it shouldn't matter whether the kit itself has already been sold or delivered. I assume the ban would cover all aspects of the service.

      (Really wish you could edit replies on here...)

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  2. Andrew Cullen

    PhD candidate

    You seem to be misrepresenting the issue here - this some sort of conspiracy where the government is trying to stop people accessing medical information, and conflating what is happening with government surveillance is disingenuous at best. 23andMe have been banned from marketing their product because they were making medical recommendations without evidence to justify the claims they were making

    "In an unusually scathing letter dated Friday, the FDA says it’s been trying to work with the company…

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    1. Tim Bell

      logged in via Twitter

      In reply to Andrew Cullen

      Andrew Cullen wrote: "23andMe have been banned from marketing their product because they were making medical recommendations without evidence to justify the claims they were making".

      23andMe go out of their way to avoid making medical recommendations. In fact, the type of recommendation they make is usually of the form, "Talk to your doctor about…".

      Furthermore, their Terms of Service (https://www.23andme.com/about/tos/) say:

      "You should not change your health behaviors solely on the basis of information from 23andMe."

      "23andMe Services are for research, informational, and educational use only. We do not provide medical advice."

      As part of the sign-up process, you're asked to acknowledge that you understand these points.

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  3. ZibdyHealth

    logged in via Twitter

    We agree with the writer of this particular opinion. Genetic screening can be very useful for rare diseases especially the one which skips a generation or more. The problem with 23andMe marketing is bit more complex as some of their data was not helpful at all. Screen shots taken from their website few months back were showing probability of Diabetes somewhere between 8-52%...this is a very wide range and on top of this, fine print shows that their data is based on “white male from European descent”. If we take these two things together, the data is completely useless for females or a person of different race.

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  4. The Gimpy Blog

    logged in via Twitter

    Not sure about this argument. In the next decade most developed nation's healthcare systems will be integrating whole genome sequencing into their systems and genomic medicine will become the mainstream. It will of course be accessible via medical professionals who can ensure that patients offer informed consent and are guided through the results, rather than by profit motivated companies evading regulatory standards...

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