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.
Fattening DTC Trend, California Start-Up Offers Prenatal Genetic Tests for 100+ Diseases
Add a new Silicon Valley start-up to the list of direct-to-consumer genetic-testing companies that could eventually be competing with clinical labs.
The company, Redwood City, Calif.-based Counsyl, is providing a microarray-based prenatal genetic test that screens for more than 100 diseases, according to today's New York Times.
"Some genetic testing of prospective parents is done now, but only for a few diseases like cystic fibrosis and Tay-Sachs, and only for certain ethnic groups. Each test can cost hundreds or even thousands of dollars," the Times reports.
By comparison, Counsyl’s saliva-based assay, called the Universal Genetic Test, costs $349 for an individual or $698 for a couple, and company executives claim "some insurers" cover it. "The trend shows that new technology could make possible widespread screening for the risk of passing on rare diseases, something that was simply not practical before," the paper says.
Here's the company's press release, issued yesterday.
“As a genetic counselor, I’ve been waiting for this for a really long time,” Elena Ashkinadze, who does prenatal genetic counseling at the Robert Wood Johnson Medical School in New Brunswick, NJ, was quoted as saying in the Times article.
But as is always the case with such DTC genetic testing services, "some experts caution that it is too soon to know how accurate Counsyl’s test actually is, in part because neither the company nor any outside reviewer has published papers on its approach and results," the Times reports.
Also, some experts say the company’s Web site "overstates the case. The company calls its product the Universal Genetic Test, for example, even though there are thousands of genetic diseases, not just the 100 Counsyl tests detect."
The Times says Counsyl executives claim the company "has been operating quietly for a few months" and "has already administered thousands of the tests," which are themselves "offered by more than 100 fertility clinics around the country."
“For the same price that we would be checking cystic fibrosis, they are checking cystic fibrosis but also 100 other diseases,” R. Ian Hardy, medical director of the Fertility Centers of New England, was quoted as saying.
“One of our goals is to make this like the home pregnancy test,” Counsyl CEO Ramji Srinivasan said.
One of the biggest unmet
One of the biggest unmet needs in this emerging online market is the need to help consumers get reliable information about all the testing options and to access appropriate genetic services to help understand all the benefits and limitations of testing. Here is a link to more information about "genetic testing in pregnancy" that was prepared by our Genetic Counselor and which has links to some useful resources for those considering testing: http://www.accessdna.com/condition/Genetic_Testing_in_Pregnancy/668. There is also a number listed for anyone who wants to speak to a genetic counselor by phone. I hope it helps. Thanks, AccessDNA