I'm doing a series of blog posts on my experience with personal genomics. I tried it out for myself with the company 23andMe. You can read my first two posts here and here.
Today is part three of these series, where I focus on the potential serious downsides to personal genomics, how personal genomics may provide different experiences for those with various ethnic backgrounds, and what the future holds for personal genomics as well as its impact on society.
What are the possible downsides to 23andMe and personal genomics more generally?
As a genomics scientist and cancer survivor, I have given this question much thought, and in my mind there are a few concerns to keep in mind. First, there is the question of the value of personal genomics analysis, especially in the current economy where dollars are tight. However, in my mind, the information one obtains for the current price of the 23andMe service seems like a bargain when you consider just how expensive it can be for one prescription drug for one year. While Afarian indicated that 23andMe is not yet profitable, to continue in the future at some point as a company they need to generate profit, and they use very expensive cutting-edge science, so I think the price is justified.
Besides cost, personal genomics customers are rightfully concerned that the security of their genomic information could be compromised in the future and somehow be used against them. Mountain and Afarian indicated that 23andMe takes a number of steps to protect this data and takes this issue very seriously as it is a fundamental element of their business. If potential customers do not trust 23andMe with their genomic information, then 23andMe will have trouble staying in business. Therefore, I imagine they are rigorously protecting the data to avoid any kind of breach. Given that 23andMe co-founder and CEO is Anne Wojcicki, wife of Google founder Sergey Brin, I have reasonable confidence the two of them and 23andme know something about cyber security, to put it mildly. However, a recent article discussed in a Nature editorial here indicated that the security of one's genetic privacy may not be so easily protected.
It is important to note that it is currently against the law for health insurance companies to use your genomic or genetic information against you, which is an added layer of protection. But, it is critical to know that it is not against the law for life insurance providers to discriminate against you based on your genetics. Surprising, huh?
An additional potential serious "side effect" of personal genomics could be too much information (TMI). Why could TMI be bad when it comes to genomics? It is formally possible that some customers might make medical decisions based on genomic information that is, as discussed earlier, more probabilistic than certain. Also, some customers might feel, after the fact, that they actually did not want to know they were at substantial risk of getting Alzheimer's or some other devastating disease for which there are currently no medical treatments. In that way, such knowledge could present emotional challenges. Other folks might find they have a sibling or other relative that they did not know about, indicating reproductive shenanigans occurred in their family, which could cause family turmoil. TMI could not only have major psychological consequences, but also lead to unnecessary treatments.
How does one's genetic and ethnic background influence the results one gets from personal genomics? I think this has a major influence. For example, I am half Jewish, and my sense is that I found a very large number of relatives on 23andMe because Jewish people, particularly Russian Jews, are customers of 23andMe. On the other hand, if people of your genetic and ethnic background have disproportionately not been customers of 23andMe, I believe you will get less out of the experience because there are simply fewer people in the database with which to compare your data to within 23andM3. This could of course change over time, and this concern also applies more broadly to the field of personal genomics and genetics studies.
What does the future hold for 23andMe and personal genomics more generally?
Afarian and Mountain told me that 23andMe is deeply interested in sequencing for future services for customers. They are conducting pilot sequencing studies with scientific collaborative partners, which for now remain confidential, to explore the use of sequencing for personal genomics. One important element of 23andMe getting their feet wet with exploring the commercial and scientific potential of sequencing for personal genomics is their pilot study called the "exome project." The exome is specifically the part of the genome that contains only the parts of the genes that make proteins in our cells. The exome is widely considered by far the most important, information-rich part of each of our genomes. In this pilot exome study, 23andMe is sequencing the exomes of 150 people to begin analyzing how specific DNA sequences in genes may influence our phenotypes of traits and diseases. Remarkably, in this study, 23andMe sequences people's exomes at what is called "80x coverage," which means that they produce 80 copies of sequence data for each person that is intercompared to ensure accuracy. This is crucial, because even an error of a single letter or base pair of DNA could falsely suggest a unique DNA element. Depending on how the Exome Project goes, 23andMe will determine how to best incorporate genomic sequencing into their business. They indicated to me that they believe that sequencing will ultimately become more important than arrays, but only "on the very far distant horizon."
At present, 23andMe remains a private company, but upon querying Afarian and Mountain, they indicated that at some point it may make sense for the company to go public depending on how steadily the business continues to grow. Part of that growth may surprisingly come more from educational sources such as colleges rather than hospitals. Many hospitals and medical organizations around the country, including Kaiser, are interested in personal genomics or genomic sequencing of patients as a tool for more powerful decisions for truly patient-specific care. For example, here at UC Davis School of Medicine, where I am a professor in the Cancer Center, there is tremendous interest in using personal genomics as a tool to empower doctors and patients. However, to date, Afarian said that 23andMe has had more relationships with educational organizations such as colleges that in some cases are offering their students the opportunity to have their genomes analyzed.
I see personal genomics more generally evolving rapidly to become a major part of everyday life for Americans and around the globe. At the same time, potential problems associated with it, such as issues of privacy and genetic discrimination as well as medical consequences, will continue to emerge in parallel and merit serious evaluation.
Disclosure: 23andMe gave me a free analysis of my genome at my request as I was researching this article on personal genomics. I have no financial interest in the company.
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