Connection Between Epigenome, Selective Mutability, Evolution, and Human Disease
Li, Harris et al., PLoS Genetics
Researchers at the Baylor College of Medicine and elsewhere propose a "connection between the epigenome, selective mutability, evolution, and human disease" based on the findings of their study on associations of structural mutability with germline DNA methylation and with non-allelic homologous recombination mediated by low-copy repeats. "Combined evidence from four human sperm methylome maps, human genome evolution, structural polymorphisms in the human population, and previous genomic and disease studies consistently points to a strong association of germline hypomethylation and genomic instability," the Baylor-led team writes.
Go Ahead and Sell DTC Genomic Tests at Walgreens. It'll Drive MDx Orders at Clinical Labs
Pathway Genomics' plan to offer its DTC genomic testing service at a chain of national drug stores beginning this Friday is a bold, if not entirely novel, move.
It is also all fine and good for people curious about the gems, both positive and negative, that their genes may hold, and could certainly be a boon to Pathway and its pharmacy partner Walgreens.
Yet to me Pathway's strategy, superior to its rivals' Internet efforts, could also lead to an increase in physician-ordered molecular assays for at least two reasons. First, if Pathway's service uncovers a high-risk allele for, say, cardiovascular disease, the first thing that customer will do is telephone his physician as a patient to discuss the results.
That meeting could prompt the doc to order a molecular cardiac panel he's used with success in the past, and the visit may be followed by a meeting with the physician or a genetics counselor aimed at helping the patient make sense of it all.
This will result in a small co-pay if the patient's insurance company reimburses for the cost of the test, the office visit, and the services of the counselor — and most do.
Second, genetics experts have been up in arms about DTC genomic tests, saying they cannot yield accurate information because there simply isn't enough data to back up their claims, and the results could even be harmful. Some critics howl that physicians should be involved in interpreting the tests, while others claim DTC genomics, a mere hobby, should not be taken too seriously. All this chatter will help drive many DTC customers into the arms of their doctors.
There's also the size of the potential customer base: Walgreens operates 7,500 stores throughout the US. And "[b]y capitalizing on the foot traffic in drug stores, Pathway hopes to gain an edge on rivals 23andMe and Navigenics, which are older and better known."
Then there's the issue of price. DTC genomic tests generally cost at least $300. Walgreens, by comparison, will sell Pathway's saliva collection kit, packaged in a box that says “Discover Your DNA,” for between $20 and $30, and hawk the spit test for between $79 and $249, depending on the battery of tests ordered. Results would be available on Pathway's Web site.
As the New York Times reports today, "[e]ven at $249 for the full test, in addition to the $20 to $30 for the kit, Pathway’s test through Walgreens will be cheaper than the $399 the company charges if the same test is ordered completely online."