Update 1/2/07: I added a box toward the end which summarizes the genetics workforce in more detail. Caveat emptor: The maps featured in this post are preliminary works-in-progress and do not capture all physician-geneticists working in the United States, just those for which good data are available (board-certified physician-geneticists that see patients and are members of the ACMG).
There are very few health care professionals in the United States with extensive training in genetics. The most qualified professionals are board-certified physician-geneticists. According to the American College of Medical Genetics (ACMG), in the United States, there are approximately 509 physician-geneticists that see patients and are registered with the ACMG, which includes MDs,
PhDsMD-PhDs, and DOs. This number excludes PhD geneticists, genetic counselors, and physician-geneticists who are either not registered with the ACMG or do not see patients (see summary box toward the end).
For perspective, there are nearly as many professional astronauts in the world as there are board certified geneticists that see patients in the United States. These 509 geneticists are not distributed evenly across the United States. Four states have no physician-geneticists at all. California has the most, with 84. The following image shows the distribution of physician-geneticists by state:
If we divide the population of the U.S. by these 509 physician-geneticists, we get a back-of-the-napkin estimate of 600,000 U.S. citizens per board certified physician-geneticist that sees patients and registers with the ACMG (300M/500). This ratio varies significantly, depending on the state. For example, there are approximately 2.8M people per physician-geneticist in Arkansas, where there is only one ACMG-registered, board certified geneticist that sees patients in the entire state.
I’ve plotted this data on a map of the United States:
The limited supply of health care professionals with expertise in genetics should be considered a risk associated with obtaining a genome sequence. Services such as 23andMe, Navigenics, deCodeMe, DNA Direct, and Knome will certainly put pressure on the capacity of the existing professional infrastructure. Of course, some of these companies (and others) may also come to fill the void with innovative models for patient triage.
***Big thanks to the ACMG for providing zip code data that enabled me to generate the maps above. Update 1/2/07: Although all errors are mine! See comments.
Professional Genetics Workforce Stats
~1100 MD geneticists in the U.S.
~2440 genetic counselors in the U.S.
~500 PhD geneticists in the U.S.
*The 509 physician-geneticists described above include MDs, MD-PhDs, and DOs that see patients and are members of the ACMG.
Some background papers with more detailed information:
- Cooksey JA et al. The medical genetics workforce: an analysis of clinical geneticist subgroups. Genet Med. 2006 Oct;8(10):603-14.
- Cooksey JA et al. The state of the medical geneticist workforce: findings of the 2003 survey of American Board of Medical Genetics certified geneticists. Genet Med. 2005 Jul-Aug; 7(6):439-43.
This month I am doing an extended meditation about the risks of obtaining and sharing personal genome sequences. This exercise will be cathartic for me. Beyond that, I hope it may help to reorient the conversation about risks into something that one day might resemble practical guidance for individuals considering obtaining and sharing personal genetic information.
The field of personal genomics needs a richter scale. This scale would provide a mechanism for giving each new genomic association a score, maybe from 1-10, based on some criteria such as penentrance, actionability, and validity. Existing genetic tests should be scored as well. Commercially available tests might have additional criteria, like whether there is an FDA-approved test or whether the test is reimbursed.
The higher the score the “better” the association or test. A low score might indicate that the association is very likely just “noise” regardless of the fact that it was all over your morning newspaper.
This scale will be very handy once you have a copy of your own genome. Let’s be honest, if you’re sipping on your morning cup of coffee, reading the paper, and see an article about a newly discovered “gene for alzheimer’s” or “snp for sudden stroke”…you’re going to be compelled to run over to your computer to see if your genome possesses that genetic variant. Without a good way to quickly judge the relevance of the news article, journalistic sensationalism may have you running over to your computer several times a day. That doesn’t sound like a very good use of time, does it?
I just looked at Jim Watson’s genome I think. Thats not the scary part. What is shocking to me is how much work we have to do in order to make a user interface to human genomes that doesn’t make my head spin.
Sequencing is quickly becoming the easy the part. A freshly liberated ladder is of little help if I can’t figure out how to use it. We need more genomic cartographers.
The Genomic Cartographer:
1 part bioinformatician
1 part beautician
mix and serve
Update: This Genome Browser is looking promising.
As powerful web technologies are applied to the practice of medicine the relationships between patients, health care providers, and scientific researchers will be reconfigured in new and interesting ways. Watching the early stages of this transformation has made me in recent weeks begin to reflect more on how this reconfiguration is going to impact medical ethics. I’ve come to the tentative conclusion that while we are in the very early stages of “medicine 2.0” we are in an even earlier stage of “medical ethics 2.0” and this may have some unforeseen consequences for early adopters of these new web technologies.
Good luck Hsien!
The PBS television station KQED in San Francisco recently aired a very thoughtful segment comparing online genomic counseling through DNA Direct to traditional face-to-face counseling via UCSF. Check it out:
KQED, Genetic Testing through the Web. Feb 20, 2007.
Full discolure: I am employed by DNA Direct.
Tired: Genetic Counseling
Wired: Genomic Counseling
Who came up with the phrase "genomic counseling"? The earliest data point I can find is from a June 2004 SACGHS Meeting, where Dr. Muin J. Khoury is quoted as saying:
"So how is NSGC [editor: The National Society of Genetic Counselors] going to or has begun to address this range of genomic information, from somatic cell to polymorphisms, and is there a role for something that we might call genomic counseling, and where does genomic counseling end and health education start, and the practice of medicine? So there is that tension between having more specialists versus integrating the genomics knowledge into the practice of daily medicine."
(If anyone knows a different provenance to this phrase, let me know in the comments or drop me a line.)
The question of where the hand-off is from the education (or counseling) of consumers about genomic data to the integration of this information into medical/clinical care is a good one. In my mind, the answer to that question depends on the type of information genomic data can provide, i.e. whether the information is clinician-centric or consumer-centric.
Some types of information will be actionable only by the clinician,
e.g. genetic testing to determine warfarin dosing.
While other types of information will be more
relevant to the actions of the consumer, e.g. CF carrier screening by couples planning a pregnancy.
There are also types of genomic data that create actionability somewhere in-between, i.e. where a clinicians actions should take into consideration a patient’s preferences. A good example is genetic testing for irinotecan dosing, where this genomic data should inform the dosing, in light of the patient’s preference for aggressive treatment versus toxicity risk (see the excellent interview with Howard McLeod about this issue).
Even when genomic information is clinician-centric, there will remain (for the foreseeable future) a role for the patient in creating physician awareness about how this information may influence patient care. Nobody is more interested a therapeutic outcome than the patient who is at risk. For this reason patients will continue to be — and increasily will become even more — informed about their care. In terms of recent genetic testing history, there have been more than one study (or this one) showing that the number one predictor of whether a physician orders a genetic test is patient demand.
Another question for genomic counseling: What is the likely format? Face-to-face? Probably not.
An Interview with Howard Mcleod. To Test or Not Test: An Update on UGTA1T1 Testing. Oncology Issues, Nov/Dec 2006. (PDF)
Wideroff L et al. Physician use of genetic testing for cancer susceptibility: results of a national survey. Cancer Epidemiol Biomarkers Prev. 2003 Apr;12(4):295-303.
Sifri R. et al. Use of cancer susceptibility testing among primary care physicians. Clin Genet. 2003 Oct; 64(4):355-60.
The CEO of DNA Direct (full discolure…and my boss/friend/mentor) recently gave a talk at Stanford as part of the Entrepreneurial Thought Leaders (ETL) seminar series. In her presentation, she tells the story of her life as an entrepreneur and her experiences with founding and operating a number of ventures, most of them in the consumer health arena. Among them were Planetree & Direct Medical Knowledge (later acquired by WebMD). Check it out:
Its well-known that a large number of physicians have a very limited understanding of genetics. This situation is an artefact of medical education, which historically hasn’t included genetics in the curriculum to any significant degree — with the view that genetics is a specialty for rare diseases. What is surprising though, is that this continues to be the case:
Industry leaders at a recent conference were unanimous in their conviction that personalized medicine will change the practice of medicine and drug development, but expressed grave concern at the lack of appropriate medical education currently available to bring that paradigm shift to fruition…Bruce Korf (University of Alabama, Birmingham) drummed home the medical education crisis. Fewer than 40 percent of medical schools run a genetics course, he said, and according to a recent survey, only one-third of physicians polled feel trained or competent to discuss genetic information. Medical informatics is a disruptive technology akin to a Tower of Babel. "Why can’t [Google] crawl through medical records?" Korf posed. "Is Wal-Mart - Google the future of medicine?"
FYI for all the bloggers out there, this post was written using Performancing for Firefox. Highly recommended.