Volume 2: No. 2, April 2005
Blazing a Trail: A Public Health Research Agenda in Genomics and Chronic
Colleen M. McBride, PhD
Suggested citation for this article: McBride CM. Blazing a trail: a
public health research agenda in genomics and chronic disease. Prev Chronic Dis
[serial online] 2005 Apr [date cited]. Available from: URL:
Whether and when genomics will lead to public health benefit via reductions in
chronic disease burden has provided fodder for debate (1,2). A point of agreement
among both proponents and skeptics is that directing genomics research to achieve
this end will require integration of knowledge across multiple disciplines and
levels of analysis (i.e., biological, behavioral, social, and environmental) (3).
Getting started on building these collaborations while the territory is new could
temper the disciplinary hegemony that so often presents formidable barriers to
transdisciplinary research (4). That said, when it comes to genomics, which has
been the bastion of bench scientists and most recently epidemiologists, it may be
especially challenging to attract the array of chronic disease researchers with
expertise in health education, health psychology, health services delivery, and
community-based intervention that will be critical to further this research
Vociferous pessimism expressed by some scientific leaders about the future
application of genomic discovery to public health improvements (2) may be scaring
off some public health scientists from pursuing genomics research (5). As has been
said, “mud sticks whatever its veracity” (6). However, some public
health researchers (7) would contend that waiting until genomic discovery is
further along to get involved will relegate us to the role of translators, stuck
with disseminating the technologies that evolve, even if they are poorly suited to
populations or limited in their impact on chronic disease outcomes. Indeed, public
health scientists must be among the trailblazers in step with or a step ahead of the
science, with a voice in directing genomics research toward public health
Unfortunately, the emerging public health research agenda for chronic disease is
giving relatively little consideration to the future of genomic discovery (8). An
informal review of the American Journal of Public Health over the past
decade shows that from 1995 to 1999 only eight articles related to genetics were
published, a number that increased only to 22 between 2000 and 2004. Publications
related to obesity, another area recognized during the same time to be important
for chronic disease, increased fivefold from 26 to 138.
So how do we enlist public health scientists in transdisciplinary
collaborations that further a public health research agenda? First, it is
time for a frame change. The past decade’s research agenda was framed to
anticipate and protect the public from the potential negative ethical, social, and
psychological implications of genomic discovery. Not surprisingly, scientists in
the vanguard of this research have been bioethicists, lawyers, and public policy
experts. To enlist public health researchers in genomics research, the agenda must
be reframed to understand the practical and proximal benefits of genomics for
chronic disease. Specifically, we should be figuring out how genomic discovery
might help us to address three persistent challenges for chronic disease prevention
and management: 1) reducing prevalent behavioral risk factors, 2) reducing
disparities in chronic disease outcomes, and 3) improving chronic disease care
delivery at reduced cost. Below I suggest examples of research in genomics and
chronic disease that could galvanize the transdisciplinary research collaborations needed
to address these challenges.
Reducing prevalent behavioral risk factors
The predicted broad array of genetic susceptibility tests that will
identify populations and individuals at increased risk of chronic disease
raise myriad research questions. Most notably, how can these tests
and related feedback be used to motivate adoption of risk-reducing
At the social environment level, public education about genomics will be a
priority. Fewer than half of Americans are aware of currently available genetic
testing for cancer susceptibility (9). Not surprisingly, awareness is
greatest among the most highly educated. Contrast this to a recent Institute of
Medicine report suggesting that nearly half of Americans cannot read complex text
and may lack the skills needed to evaluate the risks and benefits of health-related
technologies (10). Development and evaluation of health education approaches for
individuals with low literacy is needed generally, and testing strategies to
communicate the complexity of genomic risk may be especially fertile ground for
this research. The increasing direct-to-consumer advertising of susceptibility
testing and popular press coverage of genomic discovery provide a number of
“interventions” and natural experiment opportunities for exploring the
public’s understanding of genomic risk and examining factors that influence
interest in testing and its association with risk-reduction outcomes across
different target groups.
At an individual level, a number of social and psychological theories support
debate about whether genomic risk information will be viewed as more motivational
for risk-factor reduction than other risk feedback (e.g., measurement of blood
pressure and cholesterol levels, family history). Important questions remain about
whether genetic risk information can help us improve upon state-of-the-art risk
communications by personalizing risk in different or more effective ways than
current risk indicators.
An important challenge will be how to communicate information on small
incremental risk increases conferred by emerging genetic markers for chronic
disease risk. Currently the little empiric evidence available on these risk
communications is confined to highly selected samples of well-educated patients for
genes that confer high levels of risk. The increasing evidence base for common
genetic polymorphisms that interact with common environmental risk factors to
modestly increase chronic disease risk (e.g., GSTM1 for smoking-related diseases,
PPARG for diabetes, COL1A1 for osteoporosis) offer research tools that can be
used now to understand broader populations’ response to genetic risk and to
address other important public health questions (11).
Three decades of research in developing and testing behavior-change
interventions for risk reduction tell us it is unlikely that a genetic test result
alone will prompt behavior change. Yes, genetic test results might provide a cue to
action to be capitalized upon and integrated with evidence-based multicomponent
interventions already shown to influence behavior change. Moreover, consideration
of who might be most interested in genetic testing and their motivations for such
testing also could be explored to adapt intervention approaches accordingly.
Reducing disparities in chronic disease outcomes
The prediction that genomic discovery may enable future population-risk
stratification for chronic diseases raises understandable uneasiness about the use
of genetic determinism to explain health disparities (12). This makes it all the
more important that research now test how to use knowledge about the remarkable
similarity of the human genome across time, continents, and populations to inform the
discussion about what is social and what is biologic in our constructions of race,
ethnicity, and other social groupings; such research could help us begin to clarify
the individual and joint effects of these factors on chronic disease outcomes and
health disparities. Scientists now suggest that at best, genetic predispositions
may account for a third or less of chronic disease mortality (13). Communicating
about the complex, probabilistic, and relatively weaker role of genetics in chronic
disease could naturally open a dialogue about the stronger role of environment and,
in turn, might be used to strengthen the potency of behavior-change interventions
and to address the socially determined causes of disparities.
There are many fascinating and critical research questions about what
most effective methods to increase the public’s skills for evaluating the
relative contribution of genetics to chronic disease outcomes, the fallibilities
and strengths of genomics research, and to which groups these interventions should
be targeted (e.g., racial or ethnic communities, patients, health care
providers, health insurers, journalists, bench scientists). Moreover, how might
these educational and skills-building interventions influence a target
community’s opinions and receptivity to emerging genomic discoveries and
Methodological research also should be a priority. For example, most of the
large population genetics registries, despite earnest efforts, have had poor
minority representation (14). From a scientific perspective, the external validity
of study results based on these registries, as well as their credibility to
minority communities, is lessened. Thus, it is critical now to evaluate different
approaches to recruitment for genetic studies that augment minority and
population-based recruitment. Moreover, exploring public education interventions to
improve study recruitment could be a fruitful area of research. In this regard,
research might also explore whether genetic susceptibility testing for chronic
disease is viewed as a monolith, or whether participation in genomic research
related to population-wide diseases (e.g., cancer, diabetes) and race- or
ethnicity-associated diseases (e.g., cystic fibrosis, sickle cell anemia) are viewed
differently by target groups.
Equal access to genomic technologies also will be important to reducing
disparities in chronic disease outcomes. Again, getting started early will be
critical if we are to design technologies that have any potential for dissemination
(15). To this end, it is important to evaluate genetic testing and feedback in
naturalistic settings such as public health clinics to better understand system
barriers and facilitators that must be considered as we develop genomic
technologies for broad-based dissemination (16). In each case, rigorous evaluation
of delivery approaches that increase the likelihood that genomic technologies are
accompanied by appropriate support services and are affordable to individuals
and/or systems will be key to success.
Improving chronic disease care effectiveness and efficiency
Interventions to help patients manage the physical and psychological
consequences of their chronic conditions and make requisite lifestyle changes have
shown benefits for a variety of patient and system-level outcomes (17). Yet
effective self-management involves trial and error, as clinical recommendations are
based on broad and heterogeneous phenotypes of chronic disease. An important
question is whether genetically customized management recommendations could improve
patient self-management of chronic illness above current standard-of-care
approaches. For example, psychological theories tell us it is plausible and
testable that genetically customized self-management interventions might empower
patients to be better self-managers and consumers of health care. Accordingly,
genetic tailoring might improve patient–provider relationships in ways that reduce
visit time and follow-up needs. Additionally, we might ask what genetic information
patients and providers need to make them better collaborators. Answers to these
questions “upstream” might be used to direct bench science to genomics
research where products have the best potential for dissemination to these target
Also important to consider is that health care providers are expected to deliver
an increasing number of preventive services during their visits with patients (18).
Thus, the potential for genomic risk stratification to enable efficiencies in
health care delivery that reduce cost without compromising care is an important
area for research. Research related to current genetic testing applications (e.g.,
BRCA1, BRCA2, hereditary nonpolyposis colorectal cancer [HNPCC]) has been conducted in specialized care settings where certified
genetic counselors provide one- to three-hour sessions to support patient decision
making and communicate test results. This research tells us little about how these
applications might be incorporated into primary care or community health settings.
Evaluating different counseling delivery models that have been shown in previous
health promotion research to be effective (e.g., lay advisors, telephone
counseling, Web-based information) is a good place to start. This evaluation will
require us to involve genetic counselors to balance what is best practice for
communicating about chronic disease markers against what can be effectively
integrated into a variety of care settings.
Cost also will be important to consider. Current studies have shown some
pharmacogenomic interventions to be worth the cost, but these studies are too few
in number to evaluate the implications of genomic medicine broadly (19). The
importance of research for evaluating the interventions that might be most
cost-effective upstream of genomic technology development cannot be overstated
What do we need to move forward a public health research agenda?
Special journal editions like this one and the research that is highlighted is a
good start. Bringing the theme of genomics to national public health and behavioral
medicine meetings and featuring public health scientists in the vanguard of this
research from the Public Health Genomics Centers, funded by the Centers for Disease
Control and Prevention, and the Centers of Excellence for ELSI Research,
funded by the National Institutes of Health, as keynote speakers also could increase
The slower pace of genomic discovery in chronic disease means that for the time
being we will be using imperfect genomic-risk prototypes (20). Certainly, we must
have standards for choosing which prototypes to evaluate (e.g., meta-analyses as an
evidence base) but not hold them now to standards such as clinical validity or
utility that ultimately may be the goal for dissemination. Indeed, why put the cart
before the horse if the technologies in their prototypic form cannot accomplish
goals that will affect public health outcomes? Genome scientists, clinicians,
and public health researchers could collaborate in developing working standards for
selecting promising genomic-risk applications to be used in chronic disease
research. It will be important to secure buy-in for this research from
institutional review boards that may be uncomfortable with the use of experimental
genomic technologies in public health and clinical settings.
Compromising on prototypes does not mean that our research should compromise on
rigor. It is time to move beyond descriptive and exploratory studies to
conceptually based, hypothesis-driven public health research. Public health
researchers have a trailblazing role to play in these earliest phases of framing
an agenda for genomics research that puts public health challenges front and center.
The time for action is now!
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I gratefully acknowledge Ms Stephanie Moller, Dr Karen Emmons, Dr Jesse Gruman, Dr Alan Guttmacher,
Dr Muin Khoury, and Dr Benjamin Wilfond for their helpful
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Corresponding Author: Colleen M. McBride, PhD, Chief, Social and
Behavioral Research Branch, National Human Genome Research Institute, 31
Center Dr, Building 31, Room B2B37, Bethesda, MD 20892-2030. Telephone:
301-594-6788. E-mail: firstname.lastname@example.org.
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- Collins FS, Green ED, Guttmacher AE, Guyer MS.
A vision for the future of
genomics research: a blueprint for the genomic era. Nature 2004 Apr 24;422(6934):835-47.
- Merikangas KR, Risch N.
Genomic priorities and public health. Science 2003
- Khoury MJ, Little J, Burke W. Human genome epidemiology: scope and
strategies. In: Khoury MJ, Little J, Burke W. Human genome epidemiology: a scientific foundation for using genetic information to improve health and prevent
disease. New York (NY): Oxford University Press; 2004.
- Rosenfield P, Kessel F. Fostering interdisciplinary research: the way
forward. In: Kessel F, Rosenfield PL, Anderson NB, editors. Expanding the
boundaries of health and social science: case studies in interdisciplinary
innovation. New York (NY): Oxford University Press; 2003. p. 378-413.
- Hay DA. Who should fund and control the direction of human behavior
genetics? Review of Nuffield Council on Bioethics 2002 Report, genetics and
human behaviour: the ethical context. Genes Brain Behav 2003;2:321-6.
- Curry O. Evolutionary psychology: “fashionable ideology” or
“new foundation”? Human Nature Review 2003:81-92.
- Lerman C, Shields AE. Genetic testing for cancer susceptibility: the promise
and the pitfalls. Nat Rev Cancer 2004 Mar;4:235-41.
- Smith TW, Orleans CT, Jenkins CD.
Prevention and health promotion: decades of progress, new challenges, and an emerging agenda. Health Psychol 2004;23(2):126-31.
- Wideroff L, Vadaparampil ST, Breen N, Croyle RT, Freedman AN.
genetic testing for increased cancer risk in the year 2000 National Health
Interview Survey. Community Genet 2003;6:147-56.
- Institute of Medicine. Health literacy: a prescription to end confusion.
Washington (DC): National Academies Press; 2004.
- Lohmueller KE, Pearce CL, Pike M, Lander ES, Hirschhorn JN.
genetic association studies supports a contribution of common variants to
susceptibility to common disease. Nat Genet 2003 Feb;33:177-82.
- Sankar P, Cho MK, Condit CM, Hunt LM, Koenig B, Marshall P, et al.
research and health disparities. JAMA 2004 Jun;291(24):2985-9.
- McGinnis JM, Williams-Russo P, Knickman JR.
The case for more active policy
attention to health promotion. Health Aff (Millwood) 2002;21(2):78-93.
- Moorman PG, Skinner CS, Evans JP, Newman B, Sorenson JR, Calingaert B, et
Racial differences in enrolment in a cancer genetics registry. Cancer Epidemiol
Biomarkers Prev 2004;13(8):1349-54.
- Glasgow RE, Lichtenstein E, Marcus AC.
Why don’t we see more
translation of health promotion research practice? Rethinking the
efficacy-to-effectiveness transition. Am J Public Health 2003 Aug;93(8):1261-7.
- Freund CL, Clayton EW, Wilfond BS.
Natural settings trials —
introduction of clinical genetic tests. J Law Med Ethics 2004;32:106-10.
- Newman S, Steed L, Mulligan K.
Self-management interventions for chronic
illness. Lancet 2004 Oct 23;364:1523-37.
- Yarnall KS, Pollak KI, Ostbye T, Krause KM, Michener JL.
is there enough time for prevention? Am J Public Health 2003 Apr;93(4):635-41.
- Phillips KA, Van Bebber SL.
A systematic review of cost-effectiveness
analyses of pharmacogenomic interventions. Pharmacogenomics 2004;5(8):1139-49.
- Haga SB, Khoury MJ, Burke W.
Genomic profiling to promote a healthy
lifestyle: not ready for prime time. Nat Genet 2003 Aug;34(4):347-50.
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