Dante Labs, a company with offices in Europe and United States, have partnered with a number of laboratories worldwide and are now using next generation sequencing technology to map an individual’s complete genome—all three-billion base pairs—in around 8 weeks, and for under €1,000 ($1,175). This service is similar to the now fairly ubiquitous genotyping widely marketed by 23andMe and others, which Medgadget also reviewed recently. The Whole Genome Sequencing (WGS) offered by Dante Labs is far more comprehensive, however: it codes over 99% of the genome compared to around 1% for the exome tests.
Dante Labs’ Whole Genome Sequencing service in Europe currently retails for €850 ($1,000), with discounts available on certain promotional days, including Amazon prime days, thanks to a recent partnership. An added bonus for data-lovers out there (myself included) is that the WGS service offers the opportunity for the user to receive a text-file copy of the full genome as well as the summary report. In addition to WGS, Dante Labs also offer a number of more limited risk-targeted tests for between €300 ($350) and €500 ($600).
Another major benefit of actually receiving the WGS raw data from the original analysis is the ability to consult the growing number of third-party genome analysis providers. The Dante Labs team were very helpful in pointing me towards two platforms in particular – sequencing.com and promethease.com – where a whole host of further disease risk, drug-resistance, family tree, or appearance decoding can be done with apps and reports.
My WGS kit arrived within three days of placing the order. The wallet-sized box contained the DNA sampling kit, instructions, and details on how to return my sample back to Dante Labs. Having filled the small vial with my saliva (taking around 15 minutes of spitting and cheek massaging) the sample was mixed with a buffer solution when the vial was sealed, and everything was ready for shipping. I dropped the package off at a local DHL point, and a couple of days later I was notified that my sample had been received by the Dante Labs team in Italy to begin sequencing.
Then, I waited.
This seems like a good point to reflect on Dante Labs’ slogan “Never Worry Again” and consider if I had just put myself in any sort of ethical or privacy conundrum. After all, sequencing my genome could elucidate a heightened risk of fatal or expensive-to-treat diseases, reveal a carrier status of rare genetic conditions, quantify drug resistance, and generally give anyone with a copy of the result the most detailed insight possible into how my body works.
First, I think the privacy question is easier to address. Payment for the service is by Paypal or debit/credit card, and the sample kit is then delivered to an address. Any name, email and address are then associated with an 8-digit sample number behind Dante Labs’ encrypted system; this sample number is what appears on all subsequent correspondence and in the final report. Dante Labs are compliant with relevant U.S. HIPAA regulations, the EU Data Protection Directive program, and the EU-US Privacy Shield.
The ethical question is harder. Do I really want to know every detail of my genome? Once I do know it, should I ever disclose it? And if so, whom should I tell? Do I want to know if I have an elevated risk of Alzheimer’s disease, cancer, or sudden death syndrome? And should I be writing about it all on the Internet? Along with what I suspect is the majority of people, I am still in the “I don’t really know what I think” camp on these questions, and especially with regard to knowing risks that are likely to be shared within families. Hence, for this and other reasons, in the discussion below I have omitted any results linked with clinical significance.
Almost eight weeks to the day after I returned my saliva sample an email appeared in my inbox notifying me that the analysis was complete. Attached to the email was the result: a 160-page Wellness and Longevity Report and a 951MB text file that contained my entire genome. A sobering thought.
The first thing to point out here is that, unsurprisingly, a genome is an awful lot of data to be dealing with. Even the summary report at first glance appeared mind-bogglingly detailed. A vast number of SNPs (Single Nucleotide Polymorphisms) are listed with indication of both my allele and the traits associated with different alleles.
I am guided through the report by instructions that inform me of the difference between genes associated with increasing the risk of conditions versus those that are known to cause conditions. There are also indicators of risk, severity, clinical significance, and actionability where appropriate for each finding. Finally, detailed summaries of each gene reported indicate the number of studies conducted and the corresponding citations. It is also important to note that the report results can only draw on current research findings, which may change in the future with more or better studies. A great resource that aggregates all current findings for specific SNPs is SNPedia.
So, what did I learn?
My genome report correctly identified me as male. Check. I am also “Generally European” and possess the gs241 variant that is linked with green, light-brown, or hazel eyes. Again, all very consistent with my appearance. I do not taste phenylthiocarbamide and similar food compounds as bitter, and hence I should enjoy the taste of raw vegetables like broccoli and cabbage as well as dark beer. Check, again.
The encoding on my CYP1A2 gene suggests that I am in the minority of the population in having the allele associated with metabolizing caffeine faster, and hence it has less effect on me. This also appears to be true from anecdotal strong coffee drinking. I read later on that I also possess the genotype associated with craving alcohol more and metabolizing it faster, which may point to me being a good drinking companion on your next night out.
Happily, I have a reduced risk of baldness, which has born-out as true so far in my life and would be consistent with the other men in my family. And I also do indeed tan rather than freckle or sunburn as the A;A alleles of rs1015362 on my 20th chromosome would attest. My C;T alleles on rs17822931 correctly suggest that my earwax is wet, and I am pleased to read that being heterozygous on the same SNP is also associated with “slightly better body odor.” I flatter myself to think that—yes—I am more of a sprinter than a long distance runner as betrayed by the C;C genotype of rs1815739 in my ACTN3 gene, although I am suspicious that my short legs are also a factor.
There are also findings for over 100 medications indicating if I am genetically predisposed to not respond to a medication, require a dose more appropriate for my metabolism, or would see particularly positive results with each drug. Here I can see real clinical significance and, if I am honest, this is the information I would be most likely to consider disclosing to a healthcare provider.
Finally, there is the information likely to awaken the hypochondriac tendencies in all of us—that linked in research to risks of various cancers, diabetes, heart disease, Alzheimer’s, and even depression. This is an area of the genetic profile that appears the most fraught with contradictory or potentially insignificant findings. That is not to say that the test or report themselves are flawed, but rather that there is clearly just not enough good evidence of clinical outcomes linked to genetic expression, both individually and in concert. The risks make for interesting if slightly frightening reading and do appear to broadly support disease prevalence in various generations of my family, such diseases are, however, fairly common and associated with old age.
In reading my report I found it was important to be mindful of the complexity of the genome’s effects and the relative infancy of much of the research surrounding this. For instance, I possess gene variants associated with both an increased and decreased risk of Alzheimer’s disease, based on current research. There are a number of more clear-cut aspects to the sequencing, such as drug interactions and carrier status of genetic diseases, which I think do give genuine peace of mind.
The more light-hearted traits around food preferences and lifestyle quirks do appear to have impressive accuracy. And I am sure that as research linking genetic variations with disease prevalence matures it will be possible to draw ever-clearer clinical conclusions from my genome, for better or for worse. Perhaps the main lesson I learned from the whole process did not actually need a full genome sequencing: I should eat better and exercise more, in the hope of, as my report suggests “outsmarting my genes and living a longer, more vibrant life.”
I personally think that the sheer scientific marvel of having your full genome sequenced—a procedure barely possible and costing billions only 20 years ago—for the price of a decent TV is a good enough reason alone to do so!
Note: Dante Labs conducted this genome sequencing free of charge in exchange for an unbiased review from Medgadget.
Link: Dante Labs…