Why The FDA Ban On Providing Health Reports Based On Personal Genomes Won't Work
from the because-DNA-is-digital-data dept
When the first human genome was sequenced — that is, when most of the 3 billion base-pairs that go to make up our DNA were elucidated — as part of the Human Genome Project, around $3 billion was spent. Today, the cost of sequencing is falling even faster than Moore’s Law, which means everyone could have their genome sequenced soon, if they wished (and maybe even if they don’t….). By analyzing the DNA, and looking at the gene variants found there, it is possible to spot predispositions to certain diseases or medical conditions, potentially allowing lifestyle changes or treatment that reduce the risk. The well-known personal genomics company 23andMe was offering this kind of service, at least on a small scale. But that stopped at the end of last year, as the company explains:
We no longer offer our health-related genetic reports to new customers to comply with the U.S. Food and Drug Administration’s directive to discontinue new consumer access during our regulatory review process.
At this time, we do not know the timeline as to which health reports might be available in the future or when they might be available.
According to an article in MIT Technology Review, here’s what had happened:
in November 2013, the Food and Drug Administration had cracked down on 23andMe. The direct-to-consumer gene testing company’s popular DNA health reports and slick TV ads were illegal, it said, since they’d never been cleared by the agency.
But as that same article goes on to explain in detail, users of 23andMe are having no difficulty in getting around that ban on obtaining health-related analyses of their genomes, using third-party sites like Promethease:
Promethease was created by a tiny, two-man company run as a side project by Greg Lennon, a geneticist based in Maryland, and Mike Cariaso, a computer programmer. It works by comparing a person’s DNA data with entries in SNPedia, a sprawling public wiki on human genetics that the pair created eight years ago and run with the help of a few dozen volunteer editors. Lennon says Promethease is being used to build as many as 500 gene reports a day.
That kind of analysis is possible because, once sequenced, DNA is essentially just digital data: very easy to upload and compare against biomedical databases storing information as digital files. Even though they are not currently allowed to analyze it, companies like 23andMe still provide customers with access to the raw genomic data, which can then be sent to services like Promethease for a basic report drawing on its DNA database.
This raises an interesting question: given that the information on SNPedia is drawn from public databases, can the FDA stop people using it to circumvent the ban on 23andMe? According to MIT Technology Review, the FDA believes the answers is “yes”, but that just won’t work in practice. Even if the FDA manages to shut down all the services like Promethease, it would be easy to write a program that searches the main public biomedical databases for exactly the same kind of information about particular gene variants found in somebody’s genome. The software could be shared freely as open source, making it impossible to prevent people from obtaining the program and carrying out such searches independently on their own computers.
It’s true that there are good reasons why the FDA might be concerned about members of the public being given medical analyses of their genome in inappropriate ways. For a start, the results are generally probabilistic, rather than definite predictions; that makes them hard for non-experts to interpret. And when it isn’t about probabilities — if it is certain that you will develop a disease, possibly a devastating one — there’s a strong argument that counselling needs to be made available when that information is given to the person affected.
Still, regardless of the extent to which the FDA’s actions are understandable, trying to stop people comparing their DNA with publicly-available information is futile. As the copyright industry has learned the hard way, once data is digital, it is essentially uncontrollable. The best thing to do is to accept that fact and move on. In this case, that means the FDA should encourage companies offering analysis to do a good job, not block them completely.
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Filed Under: databases, dna, fda, information, innovation, public health
Companies: 23andme
Comments on “Why The FDA Ban On Providing Health Reports Based On Personal Genomes Won't Work”
"Need" doesn't mean what you think it does
And when it isn’t about probabilities — if it is certain that you will develop a disease, possibly a devastating one — there’s a strong argument that counselling needs to be made available when that information is given to the person affected.
No, there isn’t. There’s a strong argument that a counseling would be beneficial. You can even say that there’s a justifiable requirement that a doctor provide counseling if they disclose the information to an individual. But to claim that there’s a strong argument that the FDA can actively take steps to prevent an individual from gaining that information on their own unless counseling is provided is horse crap.
Paternalism
Warning: amateurs at work
While I do believe you are right in the problems of holding back that kind of information, I do seriously question the ethics of making that information available.
Contrary to the common belief the human genome has NOT been fully explored, let alone fully understood. For a laymay to use his or her DNA as basis to lookup information in a public wiki is sheer folly, there is a very high risk of getting the information wrong.
The lack of knowledge, both for the layman trying to gain an insight, as well as from our lack of understanding the complexities of the genome is on par with making a howto guide available on how to build a nuclear device on the kitchen table and not expecting that some of the hactivists polute their environment with nuclear waste.
One may very well question the ethics of people making such information generally available.
Re: Warning: amateurs at work
“The lack of knowledge, both for the layman trying to gain an insight, as well as from our lack of understanding the complexities of the genome is on par with making a howto guide available on how to build a nuclear device on the kitchen table”
That’s an interesting analogy, but one you might not want to make since such guides have readily available for a rather long time.
Re: Warning: amateurs at work
I see where you are going, the information is incomplete and difficult to understand, therefore it should remain the province of a priesthood and aristocracy, who rule the peasants for in a kindly fashion.
Re: Warning: amateurs at work
Horsefeathers. The effect of seeking insight and getting it wrong is unnecessary worry and stress on myself and perhaps my family. The effect of nuclear waste is severe damage to the environment and other people. I own my body and my mind. Not you, not the state. It’s perfectly fine to be concerned with the effects of the wrong interpretation of poorly understood information on my life and well being. It’s not fine to use the coercive power of the state to prevent me from obtaining that information because you think it’s not a wise course of action for me to take.
Re: Warning: amateurs at work
For a laymay to use his or her DNA as basis to lookup information in a public wiki is sheer folly, there is a very high risk of getting the information wrong.
So what you are saying is that we should not give people that are not experts in a particular field information that they may misinterpret?
That would basically take down the entire internet except for the cat videos. And, well, possibly the cat videos too, but I am not a veterinarian so I can’t really say.
I suppose you could take that further and say we should take all information and prevent everyone from getting to it. Experts misinterpret things all the time – not allowing them to have information would prevent them from giving everyone else bad advice (actually, this would be a good idea with Dr. Oz).
The best way to combat people making bad decisions based on bad information or misinterpretation is…more information, not less.
Re: Re: Warning: amateurs at work
Shhh! Don’t let the Climate Change “skeptiks” hear you
— it ‘ll give them ideas.
Re: Re: Re: Warning: amateurs at work
I’ve been waiting to see something like this; idiots can and will misinterpret data, then spread conspiracy theories and misinformation that actually sets progress back. Remember when Vaccine skepticism was a thing? Climate skepticism?
We need to be provided with the information, for sure, but we also need it to be presented in context so we can understand it well enough to make up our own minds.
Re: Warning: amateurs at work
What a load of horsecrap.
Your analogy is absolute crud and basic FUD.
A better analogy is:
“That like law the DNA database and rule set is available online for EVERYONE to peruse. This is because like laws DNA is a public resource open to all and owned by all.
This does not mean that every layperson understands or can practice law nor specifically give advice without specific ethical and legal guidelines to follow. BUt this does in no way mean that the layperson cannot research, analyse and come to their own conclusion (however wrong that might be) on the law.”
To state that people are not equipped to handle the ramifications of what their DNA might or not tell them is to make out that people are inherently stupid and need your (or whatever nanny state you pick) guidance and authority to know what is good for them.
Comparing it to the manufacture of a weapon of mass destruction is telling not on how bad your analogies are but on how you think the rest of humanity should bow down to YOUR wishes because of reasons! eyeroll
O and nowhere in the article did it state that the whole of the human genome has been explored, it stated it was sequenced! A major difference, but then again lets not let facts get in the way of FUD shall we.
There are even cases of geneticists in this country (you know, the ones who do the science of working out how to read and interpret DNA) who are unable to view their own test results until a ‘medical doctor’ has ‘counselled’ them. Nuts, just flaming nuts. Words cannot describe this level of stupid censorship of facts bought and paid for.
I have personal experience of using 23andme results along with an interested and responsive psychiatrist to optimise prescriptions for a family member. Horrors, I even bought myself a pharmacogenomics textbook and swapped information with the psych. Let’s ban medical textbooks.
To be clear 23andMe doesn’t actually sequence the genome (that’s still a very expensive task). I believe their goal is to be able to efficiently and affordably sequence it one day but they’re still not there.
I believe what they do is use a DNA microarray chip to try to determine whether or not someone has specific genes.
http://en.wikipedia.org/wiki/DNA_microarray
Those who are interested may also read up on electrophoresis
http://en.wikipedia.org/wiki/Gel_electrophoresis
Re: Re:
Perhaps an appropriate term for using DNA Microarrays and electrophoresis is ‘DNA fingerprinting’
http://en.wikipedia.org/wiki/DNA_profiling
(though I’m not sure how that wikipedia article comes up with the idea that anything is being ‘encrypted’).
Basically you can use various techniques to determine certain attributes of a persons DNA and those techniques can also be used to help diagnose various genetic disorders.
Re: Re: Re:
Yeah the reference to encryption is a bit odd. I wonder if they’re talking about taking the genetic fingerprint and running it through a one-way hash? Or,as I suspect, are they confusing “encrypting” with “encoding”? Because the usual representation of genetic sequences as letters certainly is encoding.
If 23 and Me had the data to prove that their results were meaningful and accurate they could apply to the FDA the same as any other in vitro diagnostic service, of which there are many. If they haven’t and can’t they probably shouldn’t be offering this service.
DNA and Medical Reports - Every one is related to every one else
Here we are now 2 and half years later, Both companies are still in business. Giving out reports, etc.
Another site has been created to compare ‘raw data’ from the initial DNA testing with the x number of companies.
To determine whether or not, they may be related to the many others who have also up loaded their files to that site.
True, not every one is mentally capable of accepting ‘bad new’s’ as far as ones health possible future condition.
And as it should be so. It is up to you, personally, to discuss such with an accredited, papered, medical professional. Not a clerk typist, computer techie employed at minimum wage an hour, employed to spit out reams of paper.
Yes, the FDA, one of its jobs is to PROTECT the general public from charlatans and fast talking, fire water salesmen/woman similar to of old. Bilking the general public out of their hard earned money.
Some times, those ‘fire water’ were nothing more than colored water, oft times, was filled with unknown chemicals which were poisonous.
Otherwise, they would NOT have challenged the content of the Television advertisement.
Lets not oft hand dismiss their motives, either.