Talk

Happy DNA Day, everybody! Today is great opportunity to celebrate DNA — whether you’re a student, an expert, a science lover or a novice. So put on your DNA t-shirts, get out there and hug a helix. (I’d love be a grown-up kid at Dr. Barry Star’s events at the Tech Museum of Innovation today, but alas, my DNA (Direct) work calls.) Send a DNA Card to a friend. Solve a DNA crossword puzzle. Get the kids together for few cool activities you can do at home. Join the chat at Genome.gov, where students from all over the nation pose questions to National Genome Research Institute experts.

Bottom line: without DNA, where would we be? Learn a little more about yours today!

Congratulations to Amy Harmon who just received a Pulitzer Prize for her series, The DNA Age. Her series, with articles and videos, “explores the benefits and burdens of genetic information as it filters out of scientific laboratories into everyday life.” It’s fantastic reading for anyone interested in what DNA means to you and me, today, and most likely tomorrow.

I’ve posted on many articles from The DNA Age here at DNA Direct Talk. Here’s a sampling:

• Insurance Fears and DNA Tests
  
• A personal story of Huntington disease
• Ancestry, race and DNA
  

Yet again, I’m frustrated by people confusing web access to genetic services with “direct-to-consumer” testing. Today in Science, Katsanis et al. lump DNA Direct’s gold standard services with what journalists at Newsweek are calling “snake oil.”

Contrary to the article published in Science that is being quoted in other news sources, DNA Direct is a healthcare provider just like any bricks-and-mortar genetics center. We provide medical genetic services according to evidence-based guidelines, under the oversight of a Medical Director who is an M.D. geneticist, and with a focus on proper interpretation of test results.

As a clinical provider committed to helping consumers understand genetic test results in context, it is inaccurate to describe our company as “bypassing doctors, who could help consumers interpret and use the findings.” In fact, we routinely work with physician practices to help both the referring physician and their patient access genetic testing and appropriately interpret the results.

You can read DNA Direct’s official reply to Science here, along with more info on our standards and how we meet professional guidelines.

It is my hope that this article by Katsanis et al. will fuel a debate, regardless of misinformation, prejudice or fear-mongering, that will help this industry rapidly mature. Debate can speed action and provide innovative solutions. As an insider commented, “We NEED articles like this—even if the perspective is one we do not share—because the market needs the acceleration and heat of debate.”

For more statistics about genetic testing for drug metabolism, which was the target of this article in Science, see Eye on DNA’s post and the Personalized Medicine Blog’s response.

Update 4/7: The Genetic Genealogist has a good round-up of news coverage and blog posts on this article.  He says, “…my biggest complaint with many of these articles (especially in the popular media) is that they tend to lump together every test that examines DNA. There are different types of genetic testing with different levels of quality control, interpretation, etc. The results, scientific background, and effects of tests offered by large-scale genome scanning companies, clinical entities, direct-to-consumer companies, and pharmacogenetic companies are not the same. When dealing with a readership that does not have a background in genetics (which is probably 99% of the readership), the media should take extra care to note these differences.”

Welcome to another edition of Gene Genie. With Craig Venter and 23andMe and decodeME all over the news, I thought this edition might be appropriately focused on genes and “me.” What does the gene genie have to say about us?

The Basics

Since so many readers of my blog are not scientists, medical professionals, or genetics geeks, let’s start with “It’s All in your Genes, Part 1” a video of Bill Nye the Science Guy courtesy of Grrl Scientist. Science teachers, raise your hand: How many of you will be showing this to your classes on National DNA Day?

What Genomics Means to You and Me

That’s the 24-hour question, isn’t it? As always, Hsien manages to provide useful, interesting info for the curious as well as the scientist, with tongue still planted firmly in cheek: DNA Testing Can Ruin Your Life Forever.

Over at Scienceroll, Berci created a Demo Account at 23andMe. He kindly walks us through the demo genes of the fictitious Mendel family and gives us all a closer perspective on the 23andMe genome-wide array test and services. Read the rest of this entry »

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: Read the rest of this entry »

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: Read the rest of this entry »

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. Read the rest of this entry »

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!

…and Frank Sinatra, and Bill Clinton, and (insert your favorite famous blue-eyed person here). The Danish geneticist, Hans Eiberg, who pioneered research into understanding the genetics of eye color, now traces all blue-eyed people back to a common ancestor who lived 6,000 to 10,000 years ago, perhaps around the Black Sea near the Ukraine or Turkey.

About 10 years ago, Eiberg discovered the gene OC2, which helps determine your eye color. Now he’s discovered a mutation that “switches off” this gene, ultimately resulting in blue eyes. Because the mutation is extremely specific, all people with blue eyes have the exact same genetic variation, and anyone with brown or green eyes do not. As a result, says Eiberg said, the mutation must have come from a single ancestor. “It’s not a guess,” he says. “It has to be.”

Read more on how eye color is determined (and check out photos of blue-eyed celebrities) at Spiegal International news: Read the rest of this entry »

The NY Times reported today about a genetic study that helps to confirm anthropological theories about the ancestral origins of the people living on the widely scattered Pacific Islands:

In an analysis of the DNA of 1,000 individuals from 41 Pacific populations, an international team of scientists found strong evidence showing that Polynesians and Micronesians in the central and eastern islands had almost no genetic relationship to Melanesians, in the western islands like Papua New Guinea and the Bismarck and Solomons archipelagos. …

The new genetic research, said Patrick V. Kirch, an anthropologist at the University of California, Berkeley, who is an authority on Pacific cultures, was “overwhelming biological evidence for a clear population movement out of Southeast Asia and Taiwan to Polynesia.” Read the rest of this entry »

Business Week’s Debate Room has just posted a debate on insurance coverage for genetic testing. Frankly, it’s not much of a debate. The pros for insurance coverage are presented by Dr. Philip Reilly, an accomplished geneticist and thought leader. He summarizes the current state and likely future of genetic testing. The cons are presented by Greg Fish, an IT business analyst, who offers the usual fear-mongering.

Of note, industry publication Health Plan Week (formerly Managed Care Weekly) just ran an article on exactly this: “Insurers Are Considering Change to Coverage for Genetic Testing and Related Patient Counseling Services.” At this point, coverage isn’t a matter of pro or con, it’s really a matter of which tests and for whom. Genetic testing is here, payers see the promise, and they’re trying to find the best strategies for coverage.

Genetic tests available in the market today fall into four categories, [says Drew Fromkin, CEO of Clinical Data, Inc.]: Read the rest of this entry »

Over at the medical genetics forum on MedHelp, senior genetics counselor Lisa Kessler responds to an inquiry about the inheritance patterns of ALS (amyotrophic lateral sclerosis), which is also known as Lou Gehrig’s disease. Many people assume serious conditions such as ALS are either hereditary or they are not. We are increasingly finding, however, that for many conditions — ALS being one of them — it’s not black and white. ALS is particularly interesting in that in can be inherited in different ways. Here’s how Lisa explains it:

Lisa’s answer: Approximately 10% of amyotrophic lateral sclerosis (ALS) cases are familial. As you know, ALS is a neurodegenerative disorder in which motor neurons (nerve cells that communicate to muscle cells) in the brain, brainstem, and spinal cord die. This causes paralysis and death. ALS usually begins in middle adult life, and the lifetime risk of developing ALS is 1 in 800. Read the rest of this entry »

I’ve been pleased to see my company’s new product, DNA Archive receive so much immediate attention. Yesterday’s Science has a wonderful write-up:

Here’s a new item for your family album: your genes. For $175, DNA Direct, a clinical genetic testing outfit in San Francisco, California, will provide a kit you can use to swab your cheek and mail in a sample. A week or two later, you’ll receive three vials containing your air-dried and chemically stabilized DNA, which can be stored indefinitely at room temperature and reactivated with a few drops of water. The samples have more than sentimental value. The company suggests they might come in handy for genealogy, family medical histories, settling inheritance suits, determining paternity in the face of an elusive male, or — in a pinch — identifying your remains should some dire mishap render them unrecognizable.

Also, thanks to the following bloggers who have commented on DNA Archive:

• Aminopop: Five Reasons to Save Grandma’s DNA
• Genetics and Health: Xmas Prezzie List
• The Issue

Technorati Tags: dna archive, science magazine, dna, storage, dna direct

There’s a new twist (or lack thereof) on the question of how our biological clocks work. New research indicates that our biological clocks influence the activity of a large number of genes by causing the chromosomes to coil tightly during the day and relax during the night.

Read more and see neat illustrations

From Biomedical Beat:

When we go to sleep at night, our bodies have a chance to unwind. Our DNA may be doing the same thing. Vanderbilt University biologist Carl Johnson has discovered that the DNA of tiny blue-green algae—a simple organism with a biological clock—is coiled tightly during the day and more relaxed at night. This pattern allows certain genes to change their activity in light or darkness, essentially helping the organism tell time and suggesting why biological clocks influence so many biochemical processes. Although more research needs to be done, Johnson speculates that human DNA may also wind and unwind according to time of day.

Image: Blue-green algae containing a protein that fluoresces in response to the microbe’s biological clock. Courtesy of the Johnson lab.

Can’t afford $1000 to buy your loved one of the latest, “coolest” genetics offerings? Or perhaps you find genome scans intriguing but not ready for prime-time? Check out a more modest but reasonable, forward-thinking stocking stuffer: DNA Archive.

This latest offering from DNA Direct is the first home DNA storage that uses laboratory quality technology (Biomatrica’s SampleMatrix) to preserve DNA in a medium that can be safely stored at room temperature, and easily reconstituted by any testing lab.

Why would you want to store DNA? Well, everyone has different reasons. Perhaps you want to trace your family’s lineage to Thomas Jefferson. As memoirist Edward Ball will attest, DNA is the new locket of hair that we can preserve for future generations. Read the rest of this entry »

At DNA Direct, our genetic counselors receive many questions about developmental delay — is it genetic, is it inherited, is it my fault? Our senior genetic counselor, Lisa Kessler, also moderates a medical genetics forum on MedHelp. Recently, she had advice for one frustrated mother seeking diagnosis for developmental delay. Lisa’s comments may resonate with many families:

Question: My 20 month old is on her third round of genetic testing. She has Global developmental delay, plus hypotonia. If these come back negative should I keep pursuing a diagnosis or throw in the towel?

Lisa’s Answer: Searching for a cause of developmental delay can be difficult and does not always provide parents with the answers that they are seeking. Only you can answer the question about when to take a break, stop, or keep going. Read the rest of this entry »

As promised, here’s a round-up of media on the new personal genome services.

Commentary:

• Wired’s cover story by Thomas Goetz: 23AndMe Will Decode Your DNA for $1,000. Welcome to the Age of Genomics
• The New York Times, Amy Harmon’s early testing experience: My Genome, Myself: Seeking Clues in DNA
• The Economist, to see how others see us: Within Spitting Distance
• The Guardian, with an interesting tangent on the Native American reverence for spit: Google gives new gene mapping service a bit of spit and polish

Straight news coverage:

• The Washington Post/Reuters News: Google-funded 23andMe offers $999 DNA test
• The San Jose Mercury News, mentions GeneTree as an established, ancestry-only social networking competitor: Start-up enables users to examine their own DNA
• The Times of India: Now, check out your DNA online

The media is coming in fairly mixed. So how about you? Would you take one of these tests?

Technorati Tags: personal genome services, 23andme, decodeme, navigenics, genetic scans, genome wide arrays, media coverage

All the press and the genetics community are chattering about the almost simultaneous launch of deCODEme and 23andMe’s services a week or so ago. On my previous post, Ramunas asked me whether companies like these pose a threat to the condition-oriented testing and services that DNA Direct offers. On the contrary, I think quite the opposite. Here’s my response:

The press that these new companies are receiving is increasing people’s general awareness of genetics, risk and health. Many people may not be interested in these SNP scans, but the awareness might drive them to more significant risk issues that they are worried about — such as a cancer risk, or blood clotting risk, that’s based on personal and family history. Read the rest of this entry »

Holy stealth mode, Batman! While everyone’s been buzzing about Navigenics and 23andMe — how they will be offering the first genome-wide array tests soon, what will they offer, how will people react to such information — that pioneering Icelanding genetics company, deCODE, just grabbed the spotlight (again).

Today deCODE unveiled deCODEme, the first consumer service for genome-wide testing. And it looks an awful lot like what we’ve been expecting from 23andMe and Navigenics. Here’s a smattering of what people have to say about it:

I think Nicholas Wade’s phrase “sample the whole genome” is misleading, but I’ll pass on this perspective:

The significance of most variation in the human genome is presently unknown. Most of the SNPs studied so far have been identified in the course of searching for the genetic roots of common diseases, such as cancer, diabetes and heart disease. Because the diseases are common, many people possess the underlying SNPs. So any interpretation of a person’s genome is at present heavily skewed toward generating ominous news. …
There are undoubtedly genes that promote longevity and good health but far fewer of these have yet been spotted. And environmental factors, too, can affect whether certain genes are ever activated.

Read the rest of this entry »

You see a UPI release like this one, and you think, “DNA advances fuel racism fears…or is it the media fanning those flames?”

Here’s my take: We’re talking genetic exceptionalism, again. The concept of “race” has always been a social construct, with a visual shorthand and local-history definition. Put simply, who did you look like and who was your family? Through social criticism and liberation theory, we’ve developed the vocabulary to appreciate race as cultural and historical identity. Our growing scientific understanding of biological differences don’t fit neatly into this paradigm.

If we consider the current scientific work in genomics — which is that DNA is just one piece of the -omics puzzle that is each individual person that includes the proteome, the methylome, the epigenome, and so forth — then, how can it be as simple as “You (and your race) are defined by your DNA.” Science has never been that simple, although rogue factions are always trying to make it so. Read the rest of this entry »

I am very pleased to announce that two wonderfully accomplished clinical people have joined DNA Direct. Trisha Brown is our new VP of Clinical Affairs, and Cynthia Kane is our new Clinical Director.

On the DNA Direct Experts page, you can see Trish and Cynthia’s smiling faces and read their detailed bios. You can lso download DNA Direct’s press release about our new clinical folks, and read what they have to say about us.

Personally, I can say that they’re even warmer in person than online. I can sum up my excitement for Trish’s leadership in two words: personalized medicine. If you are in need of genetic counseling, you’d do well to have Cynthia on the other end of your telephone line. Now, to enlist them for some guest blog posts… (cue evil laughter)

In other news, DNA Direct was featured in The Economist — “Storm in a test tube” explores controversy surrounding the growing genetic testing industry, including issues of privacy, insurance and medical guidelines. Our home paper, the San Francisco Chronicle gave us unexpected airtime in an article on paternity testing.

Technorati Tags: dna direct, company information, staff, trisha brown, cynthia kane

There is an old saying, “the more you know, the more you know you don’t know.” That’s why now is such an exciting time in the science of genetics and genomics. This week we heard all about how the genome has been sequenced, again.

For the average gal on the street, you may be wondering “Why do I keep reading about how the human genome has been sequenced, again and again? Wasn’t that done years ago? And then wasn’t it done again, with James Watson, one of they guys who discovered DNA?” The details, as with credit card accounts, are in the fine print.

When thinking about DNA and genomes, particularly the human genome, there are all sorts of complicated, creative, beautiful and happenstance things that can happen to DNA that create our own, personal and unique genomes. Read the rest of this entry »

With the recent FDA’s activity in personalized medicine, I asked DNA Direct’s director of pharmacogenetics, Dr. Huijun Z. Ring, if she’d give us a guest post.

Huijun writes:

FDA warns breast-feeding moms of genetic risk for using codeine products
Gene test can help to prevent life-threatening side effects in nursing babies

When I was home with my first baby, my training in science and medicine went out the window, and I found myself to be as much of a novice as every other new mother. I wanted to make sure that everything was perfect. Mostly, however, our family went forward by trial and error, learning as we went along how to care for our new member. Gratifyingly, a recent advance in my field of pharmocogenetics will help remove one uncertainty for mothers.

Codeine is a frequently used medication for mothers after child birth and for infants in their first year life. On Aug 17, the FDA issued a Public Health Advisory warning that a rare, but sometimes life-threatening, side effect of codeine in nursing babies could be attributed to a mother’s genetic makeup. Read the rest of this entry »

I got a kick out of the Daily Galaxy blog’s list of Hot Jobs in 2012, especially since the very specialized, previously nerdy role of genetic counseling is predicted to be … hot!

7) Genetic Counseling

Doctors will be able to test for dozens of genetic markers and predict when a person will likely experience a genetically based condition. With more tests and treatments available, genetic counselors will be needed to help individuals and families make decisions about genetic technologies as it applies to science and personal beliefs. Today, about 2,000 counselors are recognized by the American Board of Genetic Counseling.

Now, you might say it’s pretty obvious with the lightening speed advances in genomics that we need people who can explain what all those advances really mean. But most in the genomics industry and the media are focused on what can we discover. Watchdog agencies and ethics groups focus on the larger, policy issues. Who’s taking care of the individuals — families, patients, Dick and Jane and Spot — compassionately helping them understand the medicine and making their personal, own best choices according to their circumstances and beliefs? Genetic counselors. They’re the ones with the training and the time. And with only ~2000 in the practice today, you tell there’s a big bottleneck ahead.

All you GCs out there, get ready for your upcoming popularity and fame!

Personally, though, I wager that additional medical professionals who are trained in counseling and educational roles will also step up to the plate. Nurses and nurse practitioners are likely to develop a new clinical specialty, just as they have for areas such as oncology, ob/gyn and pediatrics.

Hat tip: The Daily Scan at Genome Web