Yesterday I ordered a book from Amazon called “Outsmart Your Genes” – this was prompted by a tweet from @genesherpas:
Just got my copy http://www.outsmartyourgenes.com/ my Friend Brandon Colby MD's great work. It is a must read for all. That means AnneW too.
It wasn’t too expensive and it may be interesting – it also could be part of a slick marketing campaign, a few days previously a press release announced the launch of “Existence Genetics LLC, the world’s first predictive medicine company…”. With the website of the book linking to the Existence website, the twitter and facebook links, and so on, it does look like:
We’ll see, I’ll update when I read the book, meanwhile I learnt some Australian slang as well…
First of all – there is nothing wrong with any of the above, it’s all fine and I have not much to say about the service offered by Existence Genetics (EG), I don’t know enough about it to comment. I am seriously interested in the service from a professional point of view – our aim at Eurogene is to bring such services to the practitioner in Europe – we have set up the software, systems and infrastructure to do so, to incorporate the genetics into the rest of the medical history, but we don’t develop our own genetic panels so EG could be interesting.
I’m also interested in the comparison between DTC such as decode and 23andme vs. DTMD (direct to medical doctor) like EG because a few days ago the regulatory waters were stirred up by the Pathway/Walgreen partnership (why that prompted it I don’t know – DTC via internet since 2007 = OK, DTC through pharmacy ≠ OK ?? Actually I fear it’s a knee-jerk response due to what in the UK would be called “tabloid pressure” on the FDA. But follow the link above to Genome Law Report, there you will find all you need on the current state of affairs). While I support some form of regulation / oversight (strong code of practice is my preference) but I also support DTC for easy access by anyone and full transparency.
The point is that the FDA may be jerked and lobbied into banning DTC and the only source of genetic health analysis would be through services like those of EG. The question is would that be better? There has been a lot of vocal opposition to the DTC services – they say that these are clinical services that need to go through a medical doctor. So is the EG service fine because it does go through a medical doctor, does it mean that the consumer/patient is protected by this relationship?
If I go to decode or 23andme I can see on the website a LOAD of information – the SNPs analysed, the references used to calculate the relative risks, the actual methods used in the calculations, and so on. They are both very transparent as far as what they are offering goes – and all this is available before I purchase. Which also means it is all available to anyone else to scrutinise, to error check and to validate, which is very important.
On the EG website there is very little information – no genes, SNPs, calculation methods or costs. I don’t know if they make available all the information on request – my request got this not too promising auto-reply:
Thank you for contacting Existence Genetics. While we do try to respond to e-mail inquiries, we are extremely busy and may not always be able to respond to all. Also, we are unable to answer any medical or health-related questions via e-mail.
Soraya K. and The Existence Team
There are some pages from sample reports though. Here is a screen dump of a portion of the single page heart attack report:
One subtle but interesting difference: EG says this is YOUR risk while 23andme talk about population risks referring to people with similar genotypes. I prefer the latter style because that’s where the data come from, studies of populations, I’m not sure that it’s correct to state that this % is my actual risk given that my actual risk still depends on many unknowns (other genes and my lifestyle). That’s my opinion and I stand to be corrected if it’s wrong.
Another comparison is EG and Decode who both test for Alzheimers:
The lifetime risk of your type: It is estimated that 39 of every 1000 males of European ancestry with your genotype variants develop this disease in their lifetime.
The average lifetime risk: On average, about 60 of every 1000 males of European ancestry develop this disease in their lifetime
Although there is currently no treatment available that can delay or stop the brain degeneration that causes AD, several drugs have been approved by the US Food and Drug Administration (FDA) that can temporarily slow worsening of symptoms for 6 to 12 months. As these drugs are mainly useful in the early stages of the disease, some individuals may choose to know their risk factors for the disease.
Individuals at high risk for AD may benefit from regular screening for early symptoms of the disease by their primary care provider. Early, active medical management, through available treatment options and utilization of programs and support services, can improve quality of life through all stages of the disease for diagnosed individuals and their caregivers.
Your lifetime risk 54%
Generic lifetime risk 17% [misread this as genetic at first, confused me!]
This is equal to a 220% increased risk
Clinical significance: This potential disease is very important to your health & wellness
Actionability: Preventive measures have been shown to help prevent or delay onset/progression of this disease [and it lists these as protect head from trauma, low animal fat diet, increase exercise, red wine, statins, aspirin, yoga]
Note: the founder Brandon Colby, talks about Alzheimer in a Huff Post article:
Predictive medicine's strategy in defeating Alzheimer's is straightforward: first, we use genetic screening to identify those individuals who are at increased risk; second, for those who are at increased risk, we use further genetic analysis to determine the most effective forms of prevention; and third, we institute these genetically tailored preventive measures throughout the person's life, starting as young as possible. With a simple, relatively low-cost test requiring only some saliva (no needles, no blood), we can now predict who is at risk for Alzheimer's and what will be the most effective methods of prevention against it.
Hmmm…I would really like to see the articles that are the basis of this Alzheimer prevention.
There are many questions, but first of all I would like to not get into definitions about “is it medicine” or not – that’s been gone over so many times it’s become a sterile and distracting occupation. The overall question that the FDA and others want to sort out is should decode and 23andme et al. be able to continue to offer their services DTC or should they need to be delivered to the consumer via a medical doctor. Further – should the decode and 23andme services be strictly controlled as medical devices with lengthy, costly pre-market scrutiny and FDA approval required before selling (which would effectively put them out of business)?
1. Decode and 23andme provide details of how they calculate risks, EG does not provide much information at all but makes much stronger claims and promises.
2. Should EG be subjected to the same scrutiny as 23andme etc., has it been required to submit the same sort of information requested by the FDA of the DTC companies, or does going via MDs make the service immune from this?
3. Can the EG service be freely sold in New York or California without having to go through the approval steps necessary for the DTC companies?
4. How much will the EG service cost me and what information will be supplied – will I get the results of all the SNPs on the proprietory “Nexus Gene SNP” for which there is no information on the website?
And so on. To be clear I am not saying that the EG service is poor, wrong, bad, or whatever – I don’t know, I can’t know, there is no way of finding out as far as I can determine. Let’s say that they are very good - that the service is excellent and life saving – great, but that’s not the point. EG may be good but the next DTMD service may not be, and we would not be able to tell. If all personal genetics were delivered DTMD would that be OK for the critics of DTC, is that what they demanding? If it were all DTMD then would there be no reason for the FDA to get involved as it has done recently? Would it have all stayed under the radar screen?
If that is the case then I sincerely hope that the future is not restricted to DTMD – this is the situation in Germany, the paradox is that going down this route actually reduces scrutiny, quality control, transparency and will lead to the marketing of dubious products and services (like in Italy – through medics only for a mere €700 plus doctor fees you can buy Nutrigenecode, 50 anonymous SNPs, then you buy the magic supplements. It sounds good though because “it’s prevention and will save you loads of money in future doctor fees” plus DNA really is the “fountain of eternal youth” – so there).
Those who call for health related genetic tests to go through medics need to demonstrate how restricting the services to the EG type model is really better, because that is not at all apparent from the information available. Strong regulation can have serious damaging and harmful consequences if not done properly – see this Genetic Future post from Daniel MacArthur for a good review.
Really I don’t think we need to tie ourselves in too many knots over this regulation stuff – 90% of the problems would disappear with a good code of practice, transparency and the recently proposed NIH genetic test registry.
I hope that the FDA will see the possible futures and allow us all to continue to pay our money and make our choice.