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
  

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. (more…)

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 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

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

Over at My Biotech Life, Rick has given us a dozen links and a nice pun for the latest Gene Genie carnival. Thanks Rick!

Technorati Tags: gene genie, genes, dna, blogs, carnivals

A number of new and wonderful blogs have joined the DNA Network:

• Discovering Biology in a Digital World
• Sciencebase Science Blog
• The Daily Transcript
• The Personal Genome
• The Tree of Life
• VentureBeat
• www.cancer-genetics.com

I’m happy to see Jason posting again, and to see that Ramunas Janavicius has begun a blog dedicated to cancer genetics, a personal interest of mine.

Alas, so many blogs, so little time…!

Technorati Tags: dna, blogs, dna network, genes, genetics, genome, cancer, information

Anyone looking for information on genetic diseases will be thankful for Scienceroll’s advice on “how to search for genetic conditions”. This list of Top 10 Sites is wonderful list for students, scholars, clinicians and people seeking diagnosis.

Here’s the inspiration behind his top 10 post:

Some months ago, I wrote about Juan Magdaraog who is blogging about his struggle with Pompe disease, a rare, but important genetic condition. He let me know about an essential problem: the diagnostic delay. … Look, we can’t expect physicians (from any kind of medical specialties) to know everything about all the cc. 4000 genetic conditions. But we can help them how to find relevant information and quickly understandable material on genetic conditions.

Thanks for the tips, Berci! Most of these sites live in my bookmarks, but your post reminded me that the goal of making genetics accessible means making our process transparent, too — the tools, the references, the analysis.

Technorati Tags: search, genetics, diseases, conditions, tips, top 10, websites, scienceroll

This edition’s theme is, loosely, Genetics 2.0. Let’s start with the landscape:

Genomes and Haplotypes and SNPS - oh my! Everyone’s who needs to read Keith’s post at Omics! Omics!. He’s given us the perfect primer for everyone who’s read a press release about a new fill-in-the-blank genome-related discovery, and wondered what they were leaving out … of the press release, and their data. This post should be required reading for everyone in my industry.

“Do Genetic Association Studies Matter?” Once you’ve done your Omics homework, read Thomas’ post at Epidemix. The short answer: No. Yes. Maybe. Stay tuned. Like many, I’ve stopped blogging about “this gene association just found!” as the press release pile up, and am holding out for “this association just confirmed by multiple, world-wide population studies.” Now the challenge is how to track the studies until a critical mass is reached remains.

One Man’s Junk Is Another Man’s Treasure: GrrlScientist at Living the Scientific Life has a lovely, readable-for-the-non-scientist post about how so-called “junk” DNA actually plays a powerful role in how the genome functions. We’ll keep watching the Encode project to see.

(Dare I mention the growing trend of SNPs associated with risk in non-coding regions, say…TCF7L2 and diabetes risk. Oops did that just slip out?)

Now, what 2.0 might mean for you and your genes: (more…)

Natalie Angier has compiled all you ever wanted to know about the marvels of the sperm cell in a rapturous ode to our paternal biology:

[I]n our insistence that men are more than elaborately engineered gamete vectors, we neglect the marvels of their elaborately engineered gametes. As the scientists who study male germ cells will readily attest, sperm are some of the most extraordinary cells of the body, a triumph of efficient packaging, sleek design and superspecialization. …when cast into the forbidding environment of the female reproductive tract, they will learn on the job and change their search strategies and swim strokes as needed.

Sperm are also fast and as cute as tadpoles.

Technorati Tags: father’s day, sperm, reproduction, function, anatomy, summary

Start your week off two great genetics blog carnivals: Gene Genie #8 hosted by Eye on DNA and Mendel’s Garden #15 hosted by The Daily Transcript. (I love the photos of Gregor Mendel at the beach!)

Of their highlights, I noted:

Commentary on open access genomic info vs. genetic privacy, it seems the genetic privacy discussion is part of my daily professional life. So, what do you think about genetic privacy?

What Hsien calls the “catfight” over the discovery of diabetes genes, since you see this happening all the time in research and the media who cover the research (who’s egging them on, after all?). And yes, I know, since DNA Direct is offering the only available test for a diabetes genetic risk factor (TCF7L2, aka the deCODE T2 test), I can’t weigh in on this debate, but I will simply say, anyone considering testing or writing off testing should do their homework about their personal risks and ask themselves, what can someone do with test results and what would you do. (more…)

I’ve got a guest blogger today: Alla Rogers, IT Manager at DNA Direct. Alla is a cracker-jack technologist and after-hours science geek (and often shy), so I’m excited that she volunteered this post.

Alla says…

Last night, exhausted after work, I was watching a pre-recorded episode of House half-asleep. Being an IT person (and an ESL one at that), I’m usually not familiar with half of the terms they use on that show, so imagine my excitement when I first heard the word “hemochromatosis” mentioned as one of the possible medical conditions this episode’s patient could be suffering from. “Ah! We test for that!” I exclaimed to my husband. Any trace of sleep was gone - is it finally something other than a “tumor” or “poisoning” on House?! (more…)

Linnaeus was the Swedish naturalist who gave the world modern taxonomy, the science of classifying organisms.

The New York Botanical Garden had a fete yesterday, to celebrate the man, his birthday, and his legacy.

Many fun tidbits about Linneus from James Barron in the NY Times:

“The biggest objection to Linnaeus’s sexual system of plant classification was that it was immodest,” Dr. Robbin C. Moran [a Linnaeus expert and the garden’s curator of ferns] said. “You couldn’t teach it to women and young people.”

Linnaeus also found a way to have the last word. “Linnaeus got even as only a taxonomist can,” Dr. Moran said. “He named smelly, ugly plants after his critics.”

So he named a weed Siegesbeckia, after Johann Siegesbeck, a German who called Linnaeus’s work “loathsome harlotry” and also said, “Who would have thought that bluebells, lilies and onions could be up to such immorality?”

And don’t even get me started on the banana, from ecological to socio-economical, it’s got a rare and fascinating history.

Technorati Tags: carl linneaus, taxonomy, birthday, naturalists, new york botanical garden

Kicking off with Mother’s Day, this is National Women’s Health Week. The US Deptartment of Health and Human Services is taking this opportunity to remind us to “take time out for our health.” While more of us are getting annual exams and regular health screenings (mammograms, Pap smears, cholesterol checks, colonoscopies, etc,), we’re not doing so well on the day-to-day front (eating fruits and veggies, exercising). Why is that? I’d venture it’s our increasing workload, overstimulation and stress. What do you say?

So gals, the message this week is: there’s no time like the present to recommit yourself to a healthier lifestyle. Oh, and go ahead and make that doctor’s appointment you’ve been conveniently forgetting. I know I’m overdue.

Technorati Tags: women’s health week, usdhhs, health, fitness, screening

Can’t get enough of genetics blogging? Check out The DNA Network, a FeedBurner network. The brainchild of genetics bloggers Hsien Lei and Rick Vidal, it puts science news, fun and gossip in one central location.

A network (double helix?) composed of life science enthusiasts with specialized views in areas such as genetics, biology, biotechnology, health care, and much more.

DNA Network bloggers include:

• My Biotech Life
• Epidemix
• Epigenetics News
• evolgen
• Eye on DNA
• Gene Sherpas: Personalized Medicine and You
• Genomicron
• henry, the human evolution news relay: genetics
• Mary Meets Dolly
• Microarray and bioinformatics
• Omics! Omics!
• ScienceRoll
• The Genetic Genealogist

Thanks for inviting me to join, Hsien and Rick!

Technorati Tags: the dna network, feedburner, genetics, blogs

More thoughts on the genomic revolution, who’s involved, what we’re facing and where we’re going.

• U.S. population: 300+ M
• Board-certified physicans: 697,000
• In primary care: About 2 out 5
• M.D. geneticists: 1,178
• Ph.D. geneticists: ~800
• Genetic counselors: ~2,000

That’s about 3.5 geneticists per million population. In addition, MD clinical genetics training programs have had declining numbers of trainees, which means fewer geneticists in future years. The typical clinical geneticist works at an academic medical center, spends approximately 50% of her time in direct patient care, and provides approximately 700 total patient visits per year. 700 patients per 1200 MD geneticists = 840,000 patient per year. That’s today’s bottleneck.

Now, let’s look at the nature of the molecular diagnostics market: in 2005 it was a $6 billion market, of which genetic and pharmacogenetic testing was less than 1/3. In 2010, it’s estimated to be $15 billion, over half of which will be genetic and pharmacogenetic. In 2013, it’s estimated to be $32 billion. That’s big growth.

Where is this growth taking place? (more…)

It’s been awhile since I posted, and for what I hope are good reasons: I had a big product launch (DNA Direct released the new deCODE T2 diabetes risk test — more on that soon!). That same week there was a death in my immediate family. My mother just moved in with us from out of town as a result, and promptly went in to the emergency room. And the fall-out continues. So, please give me a few days before regular posts begin. I promise good posts are coming — there are many exciting developments that I’m dying to talk about….

Take a look into genetics bloggers’ crystal ball, to see what the future might hold! Gene Genie is a blog carnival focused on genes and gene-related conditions. Here’s the latest issue at Genetics and Health: What’s In Our Genetic Future?

(Here’s the inaugural issue)

Technorati Tags: genes, genetics, blog carnival, gene genie, dieases, conditions

Today is my birthday. Coming so quickly on the heels of the new year, birthdays have always been an opportunity to make (or reinforce) my goals and resolutions for the next year. I like to keep them short, sweet and meaningful.

Birthdays, no matter when they fall, are great triggers for doing something positive and proactive about your health. Here are important birthday milestones:

• If you’re 18, go register to vote. Seriously! As a voter, you have a voice in health care legislation. Become educated and make your voice heard by voting in your local, state and federal elections.
• If you’re 21 and a woman, get a pap smear with HPV screening if you haven’t already. It’s easiest to remember annual gynecological check-ups if you tie them to something like, oh, your birthday. (Depending on depending on your last pap results, current sexual status, and whether your last test included HPV, you may not need a pap every year. Check with your doc.)
• (more…)

“We love genetics…We love genetics not…” Hsien Lei at Genetics & Health asks in this month’s Mendel’s Garden round-up of genetics bloggers. And guess what? We love genetics after all!

Technorati Tags: genetics, blogs, mendel’s garden

Welcome to A Week of Science, brought to you by Just Science and a bevy of scientists and science writers who blog. Tired of reading about culture wars, politics, social commentary and other things as they relate to science (or not) on science-oriented blogs, Just Science issued a challenge: spend a week blogging about the actual science of science.

Most of the participating bloggers are hard-core science people, but representing the common woman and laypeople who just like science, I’m throwing my hat in the ring. So this week at DNA Direct Talk, you’ll find posts about, well, the genetics of genetics. (It’s probably time for me to get off the soap-box of genetic privacy anyway.)

Technorati Tags: a week of science, genetics

I’m a bit late to the dance, but the latest edition of Mendel’s Garden is up at Neurotopia v2.0. Next month the carnival will be held over at Hsien’s Genetics & Health blog.

Technorati Tags: mendel’s garden, blog carnival, genetics

I’d say that this year’s stories ran the spectrum from “what’s in our genome?” to “what does it say about us?” to “what should we do with that information?” Yes, here’s science to policy in six easy pieces!

Diabetes Risk Genes Are Confirmed. The body of research behind this discovery is impressive, covering populations around the world and all hitting publication in a very short window of time. (I think Denise Grady, a health journalist at the New York Times captured this best with the context of a personal perspective.) With news about Americans’ skyrocketing diabetes rates, our overweight children, and our heaviest nation status, you’d think this genetic news would have made a bigger splash. Stay tuned in 2007 and let’s see what happens once testing becomes available.

The FDA Recommends Relabeling Tamoxifen - In October, the FDA met to review a compelling body of research that shows 7-10% of people may not receive medical benefit of tamoxifen, because of their 2D6 genes. This is an historic first for pharmacogenetics: it’s the first time FDA has recommended relabelling for the effectiveness of a drug, not just toxicity warnings (e.g. atomoxetine/Strattera for ADHD). It’s also notable that certain SSRIs, particularly Paxil, interfere with the metabolism of tamoxifen just like these genes do - so taking both Paxil and tamoxifen effectively cancels out the benefit of the tamoxifen. Please indulge me as I proudly say that my company is on the ball - we began providing this genetic test to consumers and doctors in October, right after the FDA’s recommendation came out.

(more…)

“Will insurance cover my genetic test?” is one of the most popular - perhaps the most popular - question we get at DNA Direct. For some genetic tests, the answer is pretty straightforward (”probably, here’s why…”). For other genetic tests, it’s more complicated.

Recently the magazine, Managed Care, ran a detailed article about exactly this issue. It begins with scenarios in which insurance company medical directors granted and denied coverage for genetic tests, and why:

• “It can’t be a fishing expedition.” Coverage denied for a handful of genetic tests.
• “This is the role genetic testing should play — when all else has been eliminated.” Coverage granted for Fragile X testing.

Of more interest to me is the detailed exploration, from the position of the insurance companies, how their policies and coverage is evolving in the face of cheaper genetic testing, patient fears of genetic discrimination, and the advent of personalized medicine.

Here’s one perspective, from an insurance company: (more…)