Talk

New Theory About Inheritance Called Into Question. Researchers at UCLA say they are unable to repeat the results of experiments that were thought to reveal a form of inheritance previously believed impossible. Writes Helen Pearson in Nature this week, “In their 2005 Nature¹ paper, Bob Pruitt and his colleagues at Purdue University in West Lafayette, Indiana, challenged the textbook rule stating that offspring receive a mix-and-match of their parents’ genes. They suggested that some plants can instead convert their genetic sequences back into the code possessed by their grandparents or earlier generations — a discovery that sent ripples through the genetics community and beyond.”

Distaste for Sprouts in the Genes. Many months ago, we conducted a small study in our office on a gene variant that affects taste. Of of 8 employees who tested, one of us is a super-taster, a few are pretty strong tasters, and no one is a non-bitter taster. The test itself is a fun party trick. (Take it, see why.) Here’s yet another example of why I love my work: Where else does the director of business development runs around handing out little tabs of paper, instructing people “Put this on your tongue, then tell me what happens!”

Coffee: A Little Goes a Long Way. An entertaining news piece from NPR on the drug we can’t live with, can’t live without is dominating our coffeepot conversations. Okay, so this piece isn’t primarily about genetics, but as I’ve blogged in the past, coffee is a hot subject in our office, especially since Mr. High-Octane himself has recently de-coffeenated. (Ah, but will it last?) We’re not the only ones musing about coffee this week: RPM’s taking an informal poll.

Technorati Tags: genes, inheritance patterns, bitter taste, tastebuds, genetic test, coffee, caffeine

Have you ever wondered why harmful genetic mutations remain in the gene pool? A mutation in the beta-globin gene provides an example of how a genetic mutation can both help you and hurt you.

With one copy of the mutated gene: individuals are protected against malaria, which is a selective advantage (and so this mutation is sure to stay in the gene pool).

With two copies of the mutated gene, one copy inherited from each parent: individuals develop the harmful genetic disorder called Sickle Cell Anemia.

Sickle cell anemia predominantly affects African Americans because of their recent ancestry in malaria-stricken areas, where it was beneficial to carry one copy of the mutated gene. The disease affects about 1 in 250 - 600 African Americans, but can be found in people of any ethnic background including people of Mediterranean, Middle Eastern, Indian, Central and South American ancestry. (more…)

October’s issue of Business 2.0 is titled “The Next Disruptors: Meet 11 Companies Whose Breakthroughs Will Change Everything.” We are the first health company profiled, in the article “The Gene Screen.” And that’s Ryan, our CEO, juggling the helix.

Rather than give you a blow-by-blow of their commentary on our company, our new tests (pharmacogenetics), and such, let me encourage you to read the article. See what the folks at Business 2.0 have to say. They pretty much cover all the bases.

Technorati Tags: genes, genetic testing, drugs, medications, pharmacogenetics, business 2.0

Yesterday in San Francisco, thousands of people turned out for the Race for the Cure, a fundraising event put on by the Susan G. Koman Foundation for breast cancer awareness. Every year with few exceptions I have raced in honor of my mother, who was first diagnosed with breast cancer at age 35. She is a testament to what it means to be a survivor, zealously pursuing a life defined not by so many surgeries and recoveries but by her love for family, friends and personal interests. My mother has never considered herself a patient or a victim. She is, as my grandmother once put it, “a fireball that descended on Phoenix in 1960 and has been lighting things up ever since!”

As you know from the previous post, it’s also ovarian cancer awareness month. What does breast cancer have to do with ovarian cancer? A small percentage of people have hereditary forms of these cancers, which are caused by inherited changes in the BRCA1 or BRCA2 gene. These gene changes put you at increased risk for both ovarian and breast cancer.

Genetic testing is available, but it’s not for everyone — and it should be done in concert with genetic counseling.

Read more:

• How Breast & Ovarian Cancers Are Inherited
• The BRCA Genes and What They Do
• Considering Genetic Testing for Breast & Ovarian Cancer
• FORCE: Facing Our Risk of Cancer Empowered. FORCE is a nonprofit organization for women with increased risk of cancer due to family history and genetic status, and for members of families in which a BRCA mutation may be present.
• Genetic testing services at DNA Direct

Technorati Tags: breast cancer, ovarian cancer, hereditary cancer, inherited cancer, BRCA1, BRCA2, genetic testing, race for the cure, susan g koman foundation

Ovarian cancer awareness month has begun with good news at the intersection of cancer and genetic research. In the August issue of Oncogene, one of the world’s leading cancer research journals, Canadian researchers published a new model to identify ovarian cancer genes. This marks a big step toward improving treatment for the disease.

In a news release, Dr. Patricia Tonin, a cancer geneticist at McGill University Health Center in Montreal, says:

Our findings now provide tangible targets for effective drug development. Up to now, there has been little in the way of treatment options for this disease, which is one of the most lethal of cancers.

(more…)

This summer DNA Direct had a wonderful intern, Elissa Test, who came to us on the way to med school, as part of her personal research into the range of medical professions. Over the course of the next few months, Elissa will be posting on specific genetic conditions and the relationship between common diseases and their genetic components.

When looking at about genetic conditions, we are inevitably focused on rare and “what are the odds?” situations. So I have to ask, what are the odds that our summer intern (Elissa Test) would have the same unusual name as our clinical director (Elissa Levin)?

As expected, the discussion about FDA regulation of genetic testing as a fallout of the GAO investigation is heating up. Today in “The Wide, Wide World of Genetic Testing“, Andrew Pollack summarizes the current landscape — who’s out there, why regulation is difficult, what proponents say, what critics say, what’s at issue.

He quotes Kathy Hudson (director of the Genetics & Public Policy Center at Johns Hopkins) as saying, “I think it’s impossible to discern which companies are reputable and which are reprehensible.” I disagree: I have every faith that consumers can be savvy about snake oil versus science. People making a significant purchase — and genetic tests aren’t cheap — do look for the details. (Just ask anyone who’s gone shopping online for a digital camera.) People making significant healthcare decisions do want, need and require context.

That said, at this time it is difficult to discern who is legit and who isn’t. There isn’t a seal of approval or certification for genetic testing companies. There isn’t one place, for example, that consumers can go to see if a company meets acceptable standards. As Pollack points out, current lab certification (CLIA) applies to whether the test is accurate (did it detect a gene?), not how it’s being sold (it can tell your fortune!).

As I said in an interview with Hsien Lei over at Genetics and Health, when she asked me about “your proactive approach to educating the public about genetic testing” and advice for other companies,

My advice? Transparency – it keeps you honest and it builds trust. Education – when you’re committed to educating others, you keep yourself up-to-date. Involvement – staying active in the community you serve keeps you compassionate. Lastly, never underestimate the intelligence of anyone seeking information. If they don’t understand, it’s simply because you haven’t found a way to explain it properly.

So you can be sure that those of us at DNA Direct will be actively engaged in regulation discussions. We want to bring access to testing, and figuring out the best way to do so is part of our mission.

Technorati Tags: genetic testing, regulation, legislation, fda, clia, guidelines, standards

The Lucille Packard Children’s Hospital in Palo Alto, California recently announced the opening of its new Down Syndrome Clinic. The clinic offers a multidisciplinary approach – addressing medical, genetic, psychological, developmental issues – to offer individualized care and evaluation of children with this genetic condition.

The clinic also offers promise on the research front, as experts will have the opportunity to learn from the clinic patients, who will also have access to new clinical trials and treatments.

Says Dr. William Mobley, who directs Packard Children’s Brain and Behavior Center, says: “There is a huge need for new treatments for these children. Right now there is nothing other than supportive care for these folks. We’re cautiously optimistic that what we’re learning now may one day lead to clinical trials.”

• Learn More: October is Down Syndrome Awareness Month. Check out the National Down Syndrome Society.

• Support Special Olympics, a nonprofit dedicated to empowering people with intellectual disabilities to become physically fit, productive and respected members of society.

Technorati Tags: down syndrome, developmental disabilities, clinical trials, research, treatment, medical care

New, Promising Treatments for Cystic Fibrosis. Forbes has a long article on two drugs, Inspire and Vertex, that are in late stage clinical trials. The article has a great explanation of how cystic fibrosis on a cellular level causes its symptoms - breathing, lung, and digestive problems. (Forbes online is free, but they require registration)

Affymetrix to Launch a 1 Million-SNP Microarray. The new GeneChip will debut early next year, at around $500. Affy is also dropping the price of its 500,000-SNP genotyping to $250. More heralds of the fast-approaching age of affordable genotyping.

Couples Select Embryos to Halt Inherited Cancer. Part of the NY Times’ series, “The DNA Age,” this article explains how preimplantation genetic diagnosis, or PGD, can avoid the tranmission of fatal conditions like Huntington’s Disease as well as significant cancer risk genes, as the family profiled in the article chose to do. This technology and the use of it raises ethical issues and has many talking about what it means that this technology may only be accessed by those with the significant financial means. The Times, as usual, has a balanced discussion.

Update: A Genetic Code for Breast and Colon Cancer. The first draft is in, and The Biotech Weblog has the scoop. This is very exciting! The promise lies in both detection (with tests like PreGen Plus) and with targeted treatment.

Technorati Tags: cystic fibrosis, clinical trials, genotyping, genetic testing, GeneChip, preimplantation genetic diagnosis, huntington’s disease, inherited cancers, breast cancer, colorectal cancer, diagnosis, treatment

Hsien Hsien Lei has a great interview series at Genetics & Health, which features people from all aspects of the genetics industry — researchers, CEOs, advocates, academics. Recently, she interviewed me. Thanks, Hsien, for a great interview!

Technorati Tags: interviews, genetics, genes, dna, genetic testing

This week is off to a great start! First, a holiday and now a new edition of Mendel’s Garden. A favorite blog of mine, Evolgen, is hosting. Check out Mendel’s Garden for links to interesting posts ranging from biomedical business to evolutionary genetics to molecular and cell biology. (I must say, there is a surprising confluence of links to and about DNA Direct. Does this mean we’re finally hip?)

Technorati Tags: mendel’s garden, genetics, evolution, molecular, cell biology