August 1, 2009 (Vol. 29, No. 14)
Alan McHughen, D.Phil.
Low-Cost Sequencers and Lack of Regulation Lay Foundation for Amateur Geneticists’ Field Day
We’re all aware of the scourge of identity theft ravaging personal credit ratings and bank accounts. But a new, even more frightening, variant has evolved—genetic identity theft, with consequences perhaps even more dramatic and unsettling than financial losses because of the personal and intimate violation. And it’s not coming soon. It’s already here, thanks to the plummeting cost of genomic technologies.
The Human Genome Project spent $3 billion in revealing the first draft of the human DNA sequence in 2003. The huge price tag limited the prospective commercial market for personal genome sequencing to a few megalomaniac multimillionaires. With dramatic improvements in technology, Illumina and partners recently announced complete personal DNA sequencing for a mere $48,000, still out of reach for most of us, but a much greater potential market than previously available.
A current and more affordable alternative to the complete DNA sequencing is a SNP survey, focused on specific genome sites more likely to differ among people. The SNP analysis is not quite as satisfying as the complete DNA sequence, but good enough for most purposes of genealogy, as well as for a selection of heritable health-related factors and to satisfy idle curiosity. And, with a pricetag around $1,000, it allows hoi polloi academic geneticists like me to participate.
A couple of years ago I sent my money and DNA sample to one of the major firms for my SNP analysis, partly to satisfy my own curiosity and partly to address common questions about commercial genomics services. Are they professional and ethical? Are the results reliable? Do they explain the technology and outcomes adequately for a nonscientific clientele? They took my money and, without further ado, processed the DNA sample.
Upon getting my results and probing a bit, I concluded that the company operated in a professional and ethical manner, and that they were—within a reasonable degree—adept at the technology. My SNPs revealed no great surprises. I already knew that my genetic ancestors came from Ireland and Scotland, and of the handful of health-related traits disclosed, I had a slightly higher than average predisposition to contract some, offset by the slightly lower predisposition for others.
But did I really need to spend almost $1,000 to confirm my eye and hair color? Where the companies need some help is on the information interpretation. As scientists, we understand uncertainty, variation, confidence and other limitations to statistical data. Few members of the lay public do.
When I see that my relative risk of contracting a rare cancer is two times that of the general population, I know my risk has gone from, say, one in a million to two in a million. I don’t lose sleep over it. If I buy two lottery tickets, I know I double my chances of winning the jackpot, but I don’t spend the winnings until I see the cash.
Tell a layperson their odds of contracting a terminal illness are doubled and they are likely to take it as a near certainty, and unnecessarily suffer the consequent anxiety. This is not the fault of the companies, of course, but illustrates a general deficiency in the public understanding of statistics and science. But back to the issue at hand.
The Need for Regulation
Last fall, I predicted the cost for personal SNP analysis would soon fall below $1,000. The next day 23andMe announced that it was dropping its price to $399. This price point for the full SNP survey puts genetic analysis in the realm of the recreational amateur, some of whom also serve as the neighborhood busybody—and every neighborhood has one.
There is currently little or no regulation over whose DNA is being analyzed, and in the U.S., anything you discard is legally available for salvage by anyone else. That is, one man’s trash is another man’s treasure, including used Band-Aids, cigarette butts, hair, and anything else that might carry your DNA.
These can become the property of your nosy neighbor who might also be an amateur geneticist with a few hundred dollars to spend pursuing their hobby. And so, while we carefully guard our personal financial information, we unwittingly hand over the keys to our genetic identity to genetic treasure hunters.
Genome testing companies do not verify the source of the submitted sample. The U.S. Genetic Information Nondiscrimination Act (GINA) protects genetic information only in health insurance and employment decision making; it is silent on the use of your personal genetic information by local gossips.
Today, your neighbor can know more about you and your genetic heritage than you do. And you, sleeping soundly knowing your financial information is secure, may not even know you’ve been a victim of genetic identity theft.
Alan McHughen, Ph.D. (email@example.com), is a professor at the University of California, Riverside.