Direct-to-Confusion Genomics

A writer's foray into DTC genomics services yields confusing results.

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So, I think that especially

So, I think that especially those in science understand that DTC will continually be improved as more markers are detected. Don't ruin it for those that want this service now, accepting the uncertainty. It is MY information, and govt regulation needs to stay out of it.

This technology is worthless

This technology is worthless right now. I don't know how 23andMe could have predicted the increased risk for bipolar disorder. This disease is a multifactorial trait whose genes have not even been identified as of yet. Also, the environment plays a contributing role. The fact that neither company has you meet face to face with a genetic counselor is also highly troubling.

Peter here, I'm the founder

Peter here, I'm the founder and CEO of Gentle, one of the companies mentioned in the article from Ars Technica.

The medical doctor mentioned in the review was doing her first counselling session for us. She clearly did not meet our expectations and we immediately stopped working with her. We also offered the journalist a second counselling session right away which went very well. Unfortunately, this is barely mentioned in the article, I guess bad news sells better than good news.

As a company, we're very disappointed in the review. While we are the first to admit that the initial counselling session did not meet our expectations, we think the personal genomics industry in general and our company in particular deserves more credit.

For example, our Gentle test includes 1,700 conditions. About 1,650 (95%) of these conditions are Mendelian diseases for which screening is much more straightforward than the Alzheimer risk mentioned in the article. No risks or odds ratio’s are needed to assess your carrier status. You’re a carrier/affected or you are not. These conditions include many common genetic diseases like Cystic Fibrosis, Haemophilia, Sickle-cell anaemia, etc.

The fact that you can test your carrier status for all these 1,650 diseases at once is groundbreaking. The fact that this provides parents the chance to prevent passing them to their children is revolutionary. Yet the review ‘forgets’ to mention these conditions and only seems to focus on the less than 5% conditions that are risk-based, such as Alzheimer.

Genetics is a relatively new discipline and we still have a lot to learn and discover, no doubt about it. However, this should not be a reason to dismiss preventative genetic tests. They are extremely useful already, preventing parents from passing 1,700 conditions to their children, warning you of increased risks (e.g. for BRCA) and indicating adverse drug reactions before you actually take the drug.

Journalists denying the clear advantages of genetic testing are doing their readers a disservice. It's not because they are lucky and their tests come back negative, that they should deny the usefulness for both the health care system and the end user.

Under a FDA-approved

Under a FDA-approved healthcare environment, 90,000 patients a year are harmed or killed by the system. 23andMe has yet to harm or kill anyone.

I got my 23andMe report in 2009. I did not find it "complicated". The risk interpretations are based on published studies. They are no different than what a Geneticist would give me.

Sorry Cyrus, your biased conclusions are just as dishonest as they have been ever since DTC first appeared and threatened the arrogance of the patriarchal system.

In response to Peter (CEO of

In response to Peter (CEO of Gentle): your criticism of the article's focus on the first counseling session is disingenuous, because if the author was not a reporter, you never would have known that the doctor's performance was sub-par, and there would have been no second session. It's not good reporting or good science to assume that the counseling you arranged for him specially, knowing he was writing an article, represents the typical customer experience. In general -- and by no means to single out Gentle, these articles generally fail to capture what testing would be like for a person with less science background and fewer resources than a science writer (which is, you have to admit, a fairly high bar). I would like to see, just once, an article where the person doesn't get to chat with the CEO of 23andMe or get advice from experts around the world. You do know, guys, that this is not your everyday user experience, right?

The statement regarding the

The statement regarding the remarkable progress and power of simultaneous analysis of all these thousands of factors is true. It is nonetheless refreshing to see that Gentle places emphasis on Mendelian disease carriage as opposed to multifactorial odds ratio calculation.

The FDA put a lid on 23andMe for a reason: making a life-changing choice over an odds-risk calculation with major impact on self esteem, family stability, work performance and mental health has consequences beyond what is just a probability: not a disease fact. I am talking about breast-cancer risk assessment and mastectomy, which in itself has the aforementioned serious consequences, even though cancer may never occur irrespective of the risk assessment outcome and, if it does, could be treatable.

The socioeconomical argument in support of disease prevention over treatment is won through 100 years of vaccine impact on childhood mortality rates. It is an extrapolation, however, to apply the concept to pre-emptive treatment, on ill-defined medical scenaria.

To the point: CFTR mutations, one of those 95% of medical conditions quoted, can also result in fully healthy children. We have no idea how this is possible. What we do know however is that genetics is not as clear cut as we would like to believe, let alone elect to advertise.

The impact of this information, beetlelady, which you rightfully say is yours to own, is subject to your and your advisor's capacity to interpret. 100 years ago the regulatory bodies were set up to prevent the impact of misinterpretation of anti-freeze as panaceas, to protect the citizen. Your government is not sticking it's fingers conspiratorially in your genome's information, it is trying to ensure any choices you make based on the interpretations you receive are of adequate quality.

As for the utility of nation-wide genome data, this is an enormously powerful healthcare management tool- again, if the data can be collected appropriately, and interpreted correctly.

Happy to discuss further off-line with anyone insterested.

Sterghios A. Moschos, PhD, MSB.

Absolutely agree with

Absolutely agree with Sterghios.
Yes beetlelady, your genome IS your information. You can still have it. The FDA have not stopped 23andMe from providing customers with their genotype information, they have stopped them from attaching unsubstantiated medical conclusions to that information. That's their job.