reporting in from the ACMG educational conference here in albuquerque, new mexico, i am particularly impressed by the conference organizers in bringing in a lot of local flavor into the meeting, and raising some important cultural issues and HBHE/public-health methodology! in particular, two entire sessions devoted to issues surrounding genetics research, engaging subject populations, provision of services, and perspectives of native americans.
in particular there was a session focused on native american perspectives of genetics and genetic research. of note, we heard from Johnson Dennison, a “medicine man” with the indian health services describe the side-by-side nature of traditional and western thoughts of care, and from two parents of children with disabilities/genetic conditions, speaking on behalf of their experiences as parents and advocates finding information about conditions and trying to bring together their separate beliefs of traditional healing and western medicine – something i’ve often though about personally with alternative/eastern medicine.
a separate session focused on Navajos and genetic disease. what particularly struck me was a talk by Murray Brilliant from the Marshfield Clinic, speaking about ways in which his group has been able to engage Navajos in genetics education to provide open forum for discussion of genetics and issues surrounding research.
of particular note was his experiences of being effective at engaging the Navajo peoples and getting their input and investment into the research. historically, incidences of studying diabetes in the Hopi and having zero benefit to the study population, or inappropriately using DNA from the Havasupai people, have created alarm in individuals when approached to be subjects of genetics research.
an interesting point is the Navajo Nation moratorium on genetic research that has existed since 2002, which i don’t plan on commenting on here, but is an important point of consideration for approaching local attitudes
Mr. Brilliant’s ultimate point was engaging the communities, finding community leaders and stakeholders to invest in the genetics education, creating true partnerships rather than only creating rewards for researchers, collaboratively planning, and ultimately, listening to the study populations.
this sounds a whole lot like CBPR (community-based participatory research) methods that i’ve heard so much about from my health behavior/health education training. in fact – this could truly be something that has yet to be thoroughly explored – using CBPR methods to garner trust and benefit the subject populations of genetic research.
in the past, perhaps identification of novel disease genes could have been seen as a “benefit” to populations. even learning more about ancestry in our american-minded culture is like a benefit. but one point that Mr. Brilliant made was with the Havasupai – whose cultural beliefs assert that they arose from the grand canyon area, when ancestry genetic studies report an asian origin. granted those ancestry studies were likely performed without direct consent for those studies, who are researchers really to publish/benefit from these studies when they may be in stark contrast from the interests of the subject population?
thus, engaging subject populations in manners that are respectful of their desires and needs may be the best way to address genetic studies.
what about genetic counseling research, or in clinical settings? perhaps many similar efforts could be used as well, even in acute settings. a poignant comment that one of the parent advocates that spoke about her perspective with a family with multiple disabilities and conditions, a genetic counselor’s enthusiasm to draw blood for clinical testing – may come as a shock to people that view their blood, their genetic information, their human blueprint as something they own and don’t want to give up. so even when pursuing genetic testing, exploring that option with clients, it would be very important to be clear what exactly the benefits are with the client, and to assess whether or not those benefits are perceived as benefits.
oi, life has been busy indeed. as i delay my packing for the American College of Medical Genetics meeting in Albuquerque yet another hour past midnight, here is something i have been working on that has been particularly interesting to me: risk communication in public health. as of my public health courses, i of course bring in my knowledge and interests around genetic testing and emerging genetic technologies into play. here is a sample of a short piece i wrote discussing the idea of emphasizing incremental risk…
Incremental Risk Communication and Common Genetic Variant Risks
The framing of numerical risk comparisons as incremental values when compared to showing risk figures as simply a comparison of absolutes risks has been show to better focus the target audience’s attention on specifically the change from baseline risk (Zikmund-Fisher B, Fagerlin A, Roberts A, Derry H, et al 2008). In the context of genetic risk communication and genetic counseling for many highly-penetrant and/or mendelian-inherited disorders, the risk of developing symptoms and risk of inheritance, respectively, garner considerably less utility in highlighting incremental risks given the often extreme differences that exist in these risks when compared to the general population. In stark contrast are those risks conferred to individuals when common genetic variants, such as those ascertained through many recent genome-wide association studies imparting minimal to modest risks, many with a relative risk under 2 (Eng C and Sharp R, 2010). Among a slew of complex ethical, legal, and social issues surrounding the reliability and clinical utility of communicating these common variant risk modifications to the public, an underlying methodological issue has been how a genetic counselor can actually communicate such small relative risk figures without misrepresenting the actual changes in baseline risks and increase in risk due to a variant. A potential solution lies in the communication of incremental risks in the methods that the authors of Zikmund-Fisher et al. 2008 demonstrate, focusing on comparison of baseline, absolute risks and the incremental changes attributed to presence of a common genetic variant.
In order to properly frame the utility of incremental risk in this scenario, a hypothetical discussion of an individual with a baseline heart disease risk of 14%, and a testable, validated common genetic variant will exist, with an relative risk of 1.3 affecting heart disease in individuals of this population, will be presented. One technique normally found in the genetic counselor’s repertoire in risk communication has been to state baseline risks, and then to provide the odds ratio of possessing the common variant in multiple formats. These multiple relative risk formats could be framed as “1.3 times greater chance of heart disease”, shown that the variant provides “30% more risk”, or provided as the absolute risk of an individual with the common variant to be 18.2% for heart disease. None of these techniques, however, highlight the “marginal increment in risk while simultaneously providing information about baseline risk level for context” (Zikmund-Fisher et al. 2008). Instead, framing the change in risk of an individual that possesses our proposed common variant through incremental risk, may highlight the change in risk more accurately without the need for more high numeracy-requiring processes of mental math: multiplying relative risks against baseline or subtracting absolute final risks from baseline.
In this scenario of highlighting incremental risk, the communicated risks would thus be provided as a baseline, absolute risk for heart disease of 14%, while individuals possessing the common variant experience an incremental absolute increase of 4.2% risk for heart disease, providing a total of 18.2% absolute risk. While the authors of Zikmund-Fisher et al. 2008 acknowledge that providing incremental risk altered the degree of worry in participants, without knowing what the appropriate degree of worry should be among these individuals, the focus on the specific change in absolute risk more accurately distinguishes for audiences the most important element of the risk communication.
Zikmund-Fisher BJ, Fagerlin A, Roberts TR, Derry HA, Ubel PA. Alternate methods of framing information about medication side effects: Incremental risk versus total risk of occurrence. Journal of Health Communication 2008;13(2):107-24.