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.
Between September 2002 and February 2003 a genetic test was marketed direct-to-consumer (DTC) by Myriad Genetics, perhaps the first legitimate medical genetic test to go DTC. The ad campaign by Myriad was for BRCAnalysis, a genetic test measuring risk for breast and ovarian cancer based on the presence/absence of mutations in specific genes. The campaign aired in only two cities, Denver and Atlanta.
A recent Business Week article describes Myriad’s campaign as well as a follow-up study conducted by the CDC assessing it’s impact on consumer behavior in the test markets. The CDC report provides the following summary of these results:
"consumer and provider awareness of BRCA1/2 testing increased in the pilot cities and… providers in these cities perceived an impact on their practice (e.g., more questions asked about testing, more BRCA1/2 tests requested, and more tests ordered)."
So far so good. Then the authors of the CDC study continue:
"However, in all four cities, providers often lacked knowledge to advise patients about inherited BOC and testing. These findings underscore the need for evidence-based recommendations on appropriate use of genetic tests and education of providers and the public to achieve maximum individual and public health benefit from genetic testing."
Indeed, there are only about 400 genetic counselors in the U.S. that specialize in cancer genetic counseling. A napkin sketch of the numbers…approx. 290 million U.S. population, 150 million female population, say 1% of the female population are candidates for genetic testing for breast cancer, then roughly 1.5 million women are potentially in need of genetic counseling at some point for this test.
How about virtual genetic counseling? Probably not for everyone, but likely to get much much better (and much much more popular?). A recent EurekaAlert public release describes a recent study of virtual genetic counseling for breast cancer:
An interactive computer program developed at Penn State College of Medicine is as effective as one-on-one genetic counseling for increasing knowledge of breast cancer and genetic testing among women at low risk for breast cancer…Counselors were, however, more effective than the computer program at reducing women’s anxiety and helping them to more clearly understand their risk.
"’These results suggest that the computer program has the potential to stand alone as an educational intervention for low-risk women, but should be used in combination with one-on-one genetic counseling for women at high risk,’ said Michael J. Green, M.D., M.S., associate professor of humanities and medicine, Penn State College of Medicine. ‘The computer program is an alternative means of communicating information about genetic testing and may help women without access to genetic counselors to decide whether or not to have genetic testing for susceptibility to breast cancer.’"
How will personal genomics change the nature of genetic testing? Currently, a person may go to their doctor or genetic counselor to discuss the availability, accuracy, and helpfulness of genetic tests for a specific disease that is prevalent in their family. This person may decide to go ahead with the test; a buccal swab is taken and sent to a lab; several weeks pass and the patient and doctor meet again to discuss the results. In the future, a person might need only to jump online, access their genome (which is attached to their electronic medical record), and click-through a virtual test since the genome sequence is already known. Educational materials and virtual counseling are available throughout this online experience. For those who desire face-to-face counseling (including the possibility of video webchat), an appointment can be made online at any time.
Amy Tsao. Genetic Testing Meet Mad Ave. Business Week. July 28, 2004.
Jacobellis, J. et al. Genetic Testing for Breast and Ovarian Cancer Susceptibility: Evaluating Direct-to-Consumer Marketing — Atlanta, Denver, Raleigh-Durham, and Seattle, 2003. MMWR weekly. 53(27):603-606 July 16, 2004.
The press release announcing the DTC campaing for BRCAnalysis by Myriad Genetics.
Press Release. Virtual counselor supplements traditional genetic counseling. EurekaAlert. July 27 2004.
Green MJ et al. Effect of a computer-based decision aid on knowledge, perceptions, and intentions about genetic testing for breast cancer susceptibility: a randomized controlled trial. JAMA 292(4):496-8.
National Cancer Institute on Breast Cancer
Glyn Moody, author of Digital Code of Life : How Bioinformatics is Revolutionizing Science, Medicine and Business has an article in the Guardian on the possibility of more or less googling your personal genome once the price of sequencing comes within range of the pocketbook. One could even imagine a service similar to their "news alerts" where individuals are kept abreast of relevant advances in genomic medicine as they occur:
A bioinformatics program running on a PC could easily check our genomes for all genes associated with the autosomal recessive disorders that had been identified so far. Regular software updates downloaded from the internet - like those for anti-virus programs - would keep our search software abreast of the latest medical research.
Genetic testing will morph from a clinical to a computational procedure. Even though the speed and efficiency of searching through the genome for blemishes might be as painless as running spell checker in a word processor, the disovery of misspellings might not be. People will be faced with decisions about the types of constraints to place on genome searches. While some might feel comfortable surfing their genome on their home computer others will undoubtedly want to foreordain, say, that search results include only treatable diseases.
Moody also points out that privacy will be an issue: Who gets to google my genome besides me? Employers? Insurers? Police? Family members?
Glyn Moody, Googling The Genome, The Guardian, April 15 2004.
(Thanks to Kristofer for the pointer)
Patricia Reaney. Computer Program Evaluates Breast Cancer Risk. Yahoo News, March 22 2004.
Scientists have developed a computer program to evaluate a woman’s individual risk of developing breast cancer.
Charity Cancer Research UK said the IBIS risk evaluator uses information about a woman’s family history of the disease to determine whether she has a genetic propensity to develop it.
Other factors including age, height, weight, use of hormone replacement therapy (HRT) and whether a woman has had children are included to give a projected risk.
…"This tool will initially be available only to doctors. In the longer term we do see something that would potentially be available for the population at large," [Jack] Cuzick added in an interview.
The program gives a woman’s individual chance of suffering from breast cancer as a percentage along with the average risk. Patients with a high risk are given guidance and advice about weight loss, use of HRT and screening programs to detect earlier signs of the disease.
…Cuzick said IBIS is already used in hospitals in Britain, the United States and Australia and could be made more widely available soon.
There are also plans to use the program to evaluate the risk of other illnesses such as heart disease and different types of cancer.
"We see it as the first step toward a project providing information to both men and women of their risk of major diseases and what they might do," said Cuzick.
"Rather than having health education that is blanketed to everyone, this would be personal, individualized information as to what your personal risk factors are based on your personal history." (emphasis mine)
Jonathan Tyrer, Stephen W. Duffy, Jack Cuzick. A breast cancer prediction model incorporating familial and personal risk factors. Statistics in Medicine. Volume 23, Issue 7 , Pages 1111 - 1130. (Abstract or full text in pdf)
‘In the field of bioinformatics, this process, which results in programs known as abandonware, has a debilitating impact. Postdocs and graduate students write code, release it into cyberspace under an open-source license, and then move on to the next innovation. Meanwhile, new grad students and postdocs don’t want to work on a project that already has a solution, even if that solution has nobody fixing bugs and providing service. The discipline cherishes innovation and creativity, not sound technical support…Moreover, no private company wants to offer a commercial version of a free program floating around…The problem stems from biology’s dependence on the free flow of information and the sharing of lab equipment, reagents, and protocols. The very concept of creating a proprietary program whose source code is kept secret and which is sold for profits is anathema to the entire academic biocomputing community…Don Gilbert, a bioinformatist at the Center for Genomics and Bioinformatics at the University of Indiana, Bloomington…says that biology’s addiction to no-cost software is killing the industry, because it squelches the ability of small startups to launch new bioinformatics projects. Another reason for all the abandonware has to do with the very nature of bioinformatics: It’s geared towards solving specific problems rather than providing a permanent solution to general problems. "Solving a computational challenge is a career, servicing a preexisting program is just an engineering task," Gilbert says.’
Sam Jaffe, Scientists Abandon their Software: Good biology programs abound in universities, but academia offers little incentive to keep them current. The Scientist, Feb 16 2004. (free registration required) Thanks to Snowdeal for the pointer.