Talk

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

A while back, I began a series of short posts on genetic conditions that are most common in people with Ashkenazi Jewish heritage. Now it’s time to pick those back up again. Where were we? Fanconi Anemia.

Fanconi Anemia is a blood disorder characterized by deficiency of red blood cells, white blood cells and platelets. Fanconi Anemia (Type C) causes developmental delay, increased risk of cancer, and congenital birth defects.

• 1 in 89 people of Jewish ancestry are carriers of the gene alteration that causes Fanconi anemia.
• Some children with Fanconi anemia have been successfully treated with bone marrow transplantation, but this treatment is still experimental.
• There are five subtypes of Fanconi anemia. Only Type C occurs with increased frequency among people with Ashkenazi Jewish ancestry. (more…)

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…)

Not surprisingly, the genomic revolution has a lot of medical professionals who aren’t geneticists* concerned about who’s doing what, and how. This is an important discussion that we should all be having, and it’s captured in what I hope will become a larger discussion begun at Grand Rounds, Volume 3, No 33 and Eye on DNA.

The Blog That Ate Manhattan writes:

Eye on DNA interviews the CEO of Genomic Healthcare Strategies, and gives us a glimpse at a possible future. I was fine till I read the list of new stakeholders in this area, and realized just how much of the trend in health care is to take it out of the hands of physicians and put in anywhere else it will make money in a direct-to-consumer market. I wonder where the ethics in this brave new world will come from?

Eye on DNA responds:

What I’d personally like to see is greater collaboration between physicians, genetic counselors, and patients aka consumers to define a personalized approach to preventing and treating disease. It doesn’t have to be one camp against another. And, in fact, if we persist in keeping secrets from our healthcare providers because we’re afraid of their disapproval or if physicians want to deny services to their patients simply because they are not the conduits, we will create an environment in which useful information is lost.

I would add: (more…)

I’m a big fan of Nicholas Wade’s journalism. He’s got a wonderful way of making complicated science easy to understand, explaining both details of a scientific discovery and what they mean in the larger scheme of things. So today, I recommend everyone check out ” Gene Identified as Risk Factor for Heart Ills” to understand the latest fruits of genome mapping and the HapMap. Although focused on a particular genetic discovery for cardiac risk, he captures in a nutshell why we’re in the midst of a “genomic revolution.”

(See the substantial news coverage on the cardiac risk gene discovery - pick your favorite source and see what they say about it.)

Personally, I’m intrigued that this early gene discovery is getting such play, when the actual release of a diagnostic test for a similar risk factor (type 2 diabetes risk) did not receive the same attention (although it’s mentioned in some of this cardiac coverage, since deCODE is involved in both discoveries). Are we as news consumers only interested in the promise and hope of early discovery? Are we jaded when it comes to practical applications? Or, are we unwilling to swallow the medicine of behavioral change, looking instead for a magic pill? Perhaps the threat of a heart attack is somehow, qualitatively different than diabetes, because it’s potentially immediately deadly rather than deadly over time. Are the hazards of diabetes easier to ignore?

Technorati Tags: genes, heart disease, risk factors, myocardial infarction, heart attack, decode genetics, decode diagnostics, nicholas wade, type 2 diabetes

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….