Archive for November, 2006

Genetics Interview #26: Dr. Emily DeVoto of The Antidote

Dr. Emily Devoto doesn’t mince words and that’s what makes The Antidote: Counterspin for Health Care and Health News such compelling reading. Opinionated people are my favorite! That is, unless she’s targeting genetics, of course.

1. On your About Me section, you write that you’re “exploring ways to promote, via the Internet, the use of evidence to improve health care and health journalism.” Can you give us some specifics on how you’re doing that?

Obviously the strategies for reaching health care and health journalism audiences are quite different, but in fact there is a common thread, which is the use of best-quality clinical evidence. I’m developing a textbook for health journalists to promote critical evaluation of health research, and I plan to have a hands-on, internet-based component to foster deep learning: fun exercises - games, even - that engage the brain so that you forget that you’re studying.

Why health journalists? It’s not just because all of us cranky scientists get annoyed when we read errors in health news. It’s because health reporters are in the odd - and scary - position of translating research findings for the public, and they’re not just, for the most part, passing along news, they’re producing, in effect, consumer health information, and even at times making recommendations. Because so many people get their health information from the media - even doctors - that puts a huge potential responsibility for public health on the shoulders of health reporters. I also support the efforts of the online Health News Review to evaluate news that’s out there and help reporters learn from constructive feedback; it’s been very well received by journalists, and I talked about it in my blog.

Health care providers and policymakers can benefit from learning the same material, but obviously it needs to be packaged differently for them. In addition, when it comes to improving the quality of health care, the field can benefit greatly from interdisciplinary interactions. I’d like to think that the blogosphere has the potential to facilitate such networking.


2. What motivated you to start blogging? How has your experience been so far? Who’s your target audience? Do you worry about how it might impinge/affect your professional life?

To answer your last question first, I was a little anxious at first about blogging publicly, but I’m convinced that to the extent that I do it well, and professionally, it can only benefit my career. In fact, that’s why I started blogging: to build a portfolio; to get myself thinking, keeping up with news, and writing on a regular basis; to create the foundations of larger writing projects; and to make connections with people around the world who appreciate the power of the Internet. People like you, Hsien!

I assume my target audience will be varied. I’m networking with health policy folks, health journalists, and researchers, but I hope my material is accessible to the educated general public as well. Public health and health care operate at so many levels; they’re not just for MDs and nurses anymore. Interdisciplinary approaches are key.

Other than the challenge of keeping up and posting regularly, the most daunting aspect of blogging hit me early on: the statistic that there now 50 million blogs out there. I can get a little obsessed with my Technorati ratings, and frantic when they don’t update my posts.

3. Most of the scientists and academicians I know don’t spend much time online advancing health policy. Do you think it’s important to encourage them to change their mindset? How would you suggest they incorporate the Web into their work?

Great question. I see the Internet as a way for scientists to network and at the same time avoid going to conferences with the same people year after year. In my experience the quality of research presented at conferences has deteriorated, falling victim to the salami-slicing phenomenon. I’m not suggesting that academicians rely on non-peer-reviewed mechanisms of Web publishing to promote their research. Instead, and forgive me for hammering again on interdisciplinary work, I’d like to see more academicians dipping their toes into other fields. Of course it doesn’t help that the language of so many scientific fields is impenetrable - ever try reading a whole issue of Science Magazine? The social networking part is the next challenge - maybe what we need is MySpace for scientists, minus the bad html, of course. No, really, I’m completely serious.

4. I first learned of you and The Antidote when I read your post about the disparities in funding between healthcare and genetics research. In what ways do you think healthcare research is lacking and how would you suggest going about attracting the big moolah?

Funding health care research can be difficult because delivery systems - where we really need research to focus - usually span multiple disease areas, and standard NIH funding mechanisms consist of single-disease buckets. The U.S. Agency for Healthcare Research and Quality, the main entity responsible for funding health care research, as you’d imagine, is amazingly resourceful with its amazingly tiny budget, which is actually dwarfed by NIH’s spending on health care. For some reason it’s been very difficult to get the public and Congress to see what is so compelling about understanding health care delivery, and more particularly to prioritize the research. We are, as a country, overwhelmed by health care cost, accessibility, and quality issues, but we may think that political solutions will solve them. I don’t entirely disagree, but throwing money at the health care system and/or introducing a single-payer health system will not solve the problems overnight.

I think what we need to promote is the understanding that health care research, health services research, call it what you will, needs to be underlaid by a basic science foundation, which boils down to the understanding interaction between systems and individual behavior (by providers and patients). The basic science thus consists of behavioral sciences, systems science, economics, and study design methodology in interaction with the laboratory and clinical research that NIH is used to funding. If NIH can be convinced that this does in fact represent legitimate basic science research, with a high likelihood of success, then perhaps substantial money can be earmarked for it on an ongoing basis. Multiplying AHRQ’s budget by about 10-fold would help, too.

5. On your very first post, someone left a comment applauding you for “exposing the silliness of health and health reporting.” I think the comment itself is rather silly. ;) But in general, what areas of health reporting do you find particularly frivolous? (Please don’t say genetics. Just kidding.)

Let me say first that I understand that health reporters face all manner of editorial barriers that impede their getting to the full story. Health reporting on local TV news is particularly problematic; it tends to have impossibly short time slots in which to get across a few sound bites, and unfortunately those sound bites, whether in the form of press releases or video, come pre-digested from PR firms, often with some touching personal anecdote. There’s usually no opportunity for the reporter to ask questions like, “Has this (acne treatment, weight-loss pill, screening test) been evaluated in high-quality randomized clinical studies?,” “Are there risks as well as benefits?” or “Is it licensed by the FDA?” If it’s about new research, more often than not it’s about a single study, without the larger context of the research - this is a problem across health media. And what always gets my goat is the little caveat that you sometimes hear: “To find out more about xx, ask your doctor.” “Your doctor” may not have access to any better information than you do, and will probably feel pressured to prescribe it because you’ve been exposed to what’s in effect an infomercial in the guise of journalism. I hope that’s not too harsh.

Thank you, Emily! FYI, The Antidote will be hosting Grand Rounds next Tuesday, submit your posts to Emily by December 3rd.

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Genetics of Orthostatic Intolerance

Yummy Yummyor Ode to Greg Page Wiggle

Over at my other blog, Play Library, we’re having a Greg Page Wiggle Tribute Day in honor of the yellow Wiggle who officially announced his retirement because he has a chronic condition called orthostatic intolerance (OI). News reports have mentioned that the condition is partly genetic so I thought I’d look it up (of course!).

According to OMIM, a mutation in the norepinephrine transporter gene (SLC6A2) has been linked to orthostatic intolerance. The syndrome involves the body’s inability to transmit the proper signals to maintain homeostasis of the cardiovascular system. Other names for the syndrome are:

  • Soldiers Heart
  • Neurocirculatory Asthenia
  • Mitral Valve Prolapse Syndrome

There also appears to be a strong correlation between OI and chronic fatigue syndrome. More information at the CFIDS Association of America.

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Response to Genetics Article in The Jewish Standard

In response to the series of genetics articles published in The Jewish Standard last week, I asked Lisa Lee of DNA Direct to share her thoughts specifically on the article about direct-to-consumer genetic testing by Dr. Miryam Wahrman.

  1. DNA Direct offers medical tests and provides information about medical guidelines for appropriateness of testing. For example, ACOG recommends that ALL couples contemplating pregnancy/currently pregnant, screen for CF because of high carrier risk (1/25 in Caucasians, Ashkenazi Jews).
  2. DNA Direct requires phone counseling before BRCA and fertility testing, which the author failed to mention. This would have been a bold message on her fertility/BRCA recommendation pages. This phone counseling covers personal and medical history details to determine if testing is appropriate; to confirm whether the individual still wants testing after understanding pros/cons of testing and what it can/can’t tell you; and to gather information to help interpret test results, should the individual proceed with testing.
  3. If the author had viewed a Sample Personalized Report (Personalized Reports accompany all test results), she would have seen that DNA Direct’s reports are very extensive (25-75 printed pages) and discuss in detail the results interpretation, prevention/treatment options, inheritance and family issues, and much more - including a clinical Physician Letter (to be given to the tester’s doctor) and a Family Letter (for informing family of test results). Yes, DNA Direct encourages individuals to work with their doctors, just like any other genetics clinic would.
  4. The author also neglected to mention that certified genetics counselors are available to testers before, during and after counseling AT NO ADDITIONAL COST. DNA Direct requires that our more complicated tests, such as BRCA and infertility require that results be delivered over the phone, in a genetic counseling session, which is a practice that most genetics clinics use depending on the individual and their circumstances.
  5. The FDA cannot approve most at-home genetic tests, because the FDA does not regulate laboratory-developed testing (which is most genetic tests), only manufactured kit testing (such as the Roche Amplichip).

For more information that addresses so many of the issues raised by Dr. Wahrman, I would suggest people check out our Standards & Guidelines.

NB: I have no financial affiliation with DNA Direct.

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Susan Sarandon’s DNA Leads Her to Wales

On tomorrow’s episode of Coming Home on BBC One, Susan Sarandon traces her Welsh roots with DNA confirmation.

Analysis of the star’s maternal DNA showed she had Italian ancestry on that side of her family, he [Professor Bryan Sykes] said.

However after looking at her brother’s DNA, to determine her paternal ancestry, they found Ms Sarandon’s links to Wales through her father, Phillip Leslie Tomalin.

One of these days I might just be tempted to get a Genographic Project participation kit.

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Genetics of Pierre Robin Sequence

Angela at Breastfeeding 1-2-3 wrote about the challenges of cleft palate and Pierre Robin Sequence (PRS) today. The story of Lauren and her daughter Charlotte piqued my interest and I found that although the cause of PRS is generally not well understood, there are a few chromosomal loci that are associated:

  • 2q24.1-33.3
  • 4q32-qter
  • 11q21-23.1
  • 17q21-24.3

Candidate genes:

  • GAD67 on 2q31
  • PVRL1 on 11q23-q24
  • SOX9 on 17q24.3-q25.1

The Center for Craniofacial Development and Disorders also mentions external factors that affect the development of the jaw, such as crowding in the mother’s uterus due to multiple pregnancy or large fibroids.

Photo credit: MCG Craniofacial Center

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