Stopping 23andMe will only delay the revolution medicine needs

We need to collect billions of data points for analysis by computers, and the only company in major contention to do this soon is 23andMe.

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 $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.

Gholson Lyon does not work for, consult to, own shares in or receive funding from any company or organisation that would benefit from this article, and has no relevant affiliations.

This article was originally published at The Conversation. Read the original article.

The Conversation

A 23andMe testing kit. (Photo: widdowquinn/Flickr)
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Ignored by the media, the Liberal Democrats are experiencing a revival

The crushed Liberals are doing particularly well in areas that voted Conservative in 2015 - and Remain in 2016. 

The Liberal Democrats had another good night last night, making big gains in by-elections. They won Adeyfield West, a seat they have never held in Dacorum, with a massive swing. They were up by close to the 20 points in the Derby seat of Allestree, beating Labour into second place. And they won a seat in the Cotswolds, which borders the vacant seat of Witney.

It’s worth noting that they also went backwards in a safe Labour ward in Blackpool and a safe Conservative seat in Northamptonshire.  But the overall pattern is clear, and it’s not merely confined to last night: the Liberal Democrats are enjoying a mini-revival, particularly in the south-east.

Of course, it doesn’t appear to be making itself felt in the Liberal Democrats’ poll share. “After Corbyn's election,” my colleague George tweeted recently, “Some predicted Lib Dems would rise like Lazarus. But poll ratings still stuck at 8 per cent.” Prior to the local elections, I was pessimistic that the so-called Liberal Democrat fightback could make itself felt at a national contest, when the party would have to fight on multiple fronts.

But the local elections – the first time since 1968 when every part of the mainland United Kingdom has had a vote on outside of a general election – proved that completely wrong. They  picked up 30 seats across England, though they had something of a nightmare in Stockport, and were reduced to just one seat in the Welsh Assembly. Their woes continued in Scotland, however, where they slipped to fifth place. They were even back to the third place had those votes been replicated on a national scale.

Polling has always been somewhat unkind to the Liberal Democrats outside of election campaigns, as the party has a low profile, particularly now it has just eight MPs. What appears to be happening at local by-elections and my expectation may be repeated at a general election is that when voters are presented with the option of a Liberal Democrat at the ballot box they find the idea surprisingly appealing.

Added to that, the Liberal Democrats’ happiest hunting grounds are clearly affluent, Conservative-leaning areas that voted for Remain in the referendum. All of which makes their hopes of a good second place in Witney – and a good night in the 2017 county councils – look rather less farfetched than you might expect. 

Stephen Bush is special correspondent at the New Statesman. He usually writes about politics.