Talk

Yes, that’s the sound of champagne corks flying at DNA Direct. We’re happy to announce our next round of funding. Our newest investor, Lemhi Ventures, is focused on growing businesses that target disruptive changes in health care, to improve quality and value for consumers.

How does DNA Direct provide solutions to disruptive change? Personalized medicine, coming to you online, over the phone, at home, in your doctor’s office, and through your labs. We’re focused on making the connections between patients, physicians and institutions — closing the loop, so to speak, or addressing the gap — so that the potential of medical genetics to affect people’s healthcare and change people’s lives is realized.

Here’s the official press release: (more…)

Amy Harmon looks at the issue of privacy, fear of discrimination, and the very real repercussions some people are facing as a result of the tension between important medical information and lack of comprehensive legislation to protect patients’ genetic privacy.

She quotes Francis Collins, director of the National Human Genome Research Institute at the NIH, “It’s pretty clear that the public is afraid of taking advantage of genetic testing. If that continues, the future of medicine that we would all like to see happen stands the chance of being dead on arrival.”

I don’t think it’s as dire as that, but all of us — patients, physicians, industry and thought leaders — need to push for systemic solutions. Genetic testing is redefining the practice of medicine, and our convoluted infrastructure of delivering healthcare needs to adjust to accommodate it.

Harmon’s profiles of people who have chosen to test, not to test, and to test anonymously by paying for testing themselves illustrate how this tension has a fundamental impact on peoples’ health and families’ lives: (more…)

Ethical Issues Surrounding Personal Health Records: Google Health and the Cleveland Clinic’s announced a partnership this week and everyone’s buzzing about privacy, portability, and all things Google. “HIPAA” has officially entered the public vernacular. David Hamilton outlines privacy and other ethical issues at Venture Beat. Steve Lohr adds more at his NYTimes blog, Bits. Betsy Schiffman at Wired’s blog is a bit more blase.

Paternity Testing: A simple test, a sensational tabloid topic, and sometimes a sticky wicket of ethical issues, too. Identigene is now offering a drugstore paternity test, which they claim may be used for legal purposes. But legally admissable test results require chain-of-custody documentation. I wonder how a drugstore kit will swing that? Many of us here at DNA Direct take issue with Identigene’s support (encouragement?) of gathering DNA samples without the tester’s knowledge and consent. On a different note, the Wall Street Journal mentions that 1 in 25 births is a non-paternal event. I’ve heard tell in some medical circles that the rate of non-paternal events is estimated to be as high as 1 in 10 births.

And speaking of paternity testing. And twins… Hsien Lei trumped my posts on twins (as always) with her discussion about a paternity suit involving identical twin brothers. She explains more about how there can be genetic differences between identical twins, who hatch from the same fertilized egg.

Right on the tails of my last post comes ground-breaking news about identical twins: they don’t actually have identical genetics! (Darn close, but not 100% identical.)

A study by University of Alabama, Birmingham researchers challenges the long-held belief that identical twins have identical genetics. They compared the DNA of sets of twins and discovered significant copy number variation (or CNV).

…[S]ubstantial chunks of DNA sequences were missing, doubled or reversed in one of the two twins. Having chunks of DNA sequences shifted around or missing is a common genetic mutation. When first discovered, scientists thought it was inconsequential. Often it is, but researchers are beginning to learn that sometimes CNV can be a major factor in developing a disease. (more…)

I’ve got twins on my mother’s side and twins on my father’s side, too. On my mother’s side, they seem to appear every other generation, so the joke among my cousins is “which one of us will have the twins?”

Whether twins really do run in families or whether this is an old wives’ tale is a question many people ask. Senior genetic counselor Lisa Kessler, just answered that over at MedHelp’s genetic forum, where she is the moderator.

She explains that having identical twins is not typically something that runs in families, butBirth control and family planning
Choosing a primary care provider
Ewing�s sarcoma
Family troubles - resources having fraternal twins does — and it happens more frequently after the second pregnancy. Interestingly, this only applies to a history of twins on the woman’s side of the family. A history of twins on the father’s side doesn’t increase the chance of having twins.

So now we know. And now it’s up to my cousins to pass on the family tradition of twins!