CDC - Blogs - Genomics and Health Impact Blog – Peeling the pyramid, scaling the onion—how to implement genomic medicine
Peeling the pyramid, scaling the onion—how to implement genomic medicine
Categories: genomics
June 21st, 2012 11:41 am ET - Muin J Khoury, Director, Office
of Public Health Genomics, Centers for Disease Control and Prevention
In spite of the promise of genomics and related technologies for
a new era of precision healthcare and disease prevention, only a
handful of genomic tests and applications have been recommended for use in
clinical practice by evidence-based groups. Nevertheless, implementation of even
the few recommended genomic tests is lagging. For example, implementing the
2005 USPSTF recommendation
on
genetic counseling of high risk women for BRCA testing is still not optimal, in
spite of years of efforts by health care providers and genetic counselors. A
recent study from a national sample
of 14.4 million commercially insured patients shows
underutilization of BRCA testing to guide breast cancer treatment among
African-American and Hispanic women compared to whites. In addition a recent
survey of primary care
providers
showed that only 19% consistently recognize the family history patterns
identified by the USPSTF as appropriate indications for BRCA evaluation.
Likewise, implementing the 2009 EGAPP recommendation on testing all new cases of colorectal
cancer for Lynch syndrome to reduce morbidity and mortality in relatives is just
getting started. Substantial challenges currently exist in the identification of
Lynch syndrome in patients and
their affected relatives. A Lynch Syndrome Screening Network was recently launched to
accelerate implementation of Lynch Syndrome testing. 
Figure 1
as a
way to gauge the success and impact of interventions on population health (see
figure 1). In the context of genomics and other health fields, a 5-tier pyramid
can describe the impact of different types of clinical and public health
interventions and provides a framework to improve health. At the base of this
pyramid-interventions with the greatest potential impact- are efforts to address
socioeconomic determinants of health. In ascending order are interventions that
change the context to make individuals’ default decisions healthy (such as
policy and coverage), clinical interventions that confer long-term protection
(e.g. newborn screening), ongoing direct clinical care, and health education and
counseling of patients and populations. Interventions focusing on lower levels
of the pyramid tend to be more effective because they reach broader segments of
society. Implementing interventions at each of the levels can achieve the
maximum possible sustained public health benefit. Obviously for successful
implementation of genomic medicine we need to combine interventions at multiple
levels that include among others things policy change, education and integrated clinical programs as well
as surveillance to measure impact.
Figure 2
indicate that we know very little on how to combine interventions at multiple
levels in the context of cancer in general, and genomics in particular, to
successfully implement genomic applications in practice, and to achieve the best
possible outcomes at the population level. As Taplin et al state
in the introduction to the monograph, “health care in the United States is
notoriously expensive while often failing to deliver the care recommended in
published guidelines. In this monograph, we emphasize that health-care delivery
occurs in a multilevel system that includes organizations, teams, and
individuals. The notion that multiple levels of contextual influence affect
behaviors through interdependent interactions is a well-established ecological
view.” The monograph adopts an “onion” conceptualization (see figure 2) that
uses levels of human aggregation to identify a hierarchy of potential
intervention targets. The targets are the individual, including
biological factors, beliefs and attitudes, sociodemographic characteristics, and
risk factors; the provider/team, including skills and attitudes of
providers, and the functioning of the provider team; family and social
supports, including social networks; the organization or practice setting,
including human and capital resources and processes designed to improve care;
the local community environment, including local health-care markets,
and social and professional norms; the state and national environments,
including state policies, programs and other factors. The “onion” model
identifies potential levels of intervention, it does not specify the mechanism
of effect of the levels on each other or the behavior of providers and people
seeking care. So getting it done right for genomic medicine, as in other areas
of health care, requires the combination of research and practice at multiple
levels. Whether we use the image of the “onion” or the “pyramid” to help us in
our conceptualization of what needs to be done, it is clear that many actors
have to come together to assess how best to implement genomic medicine through a
robust research agenda while at the same time developing scalable implementation
programs There is a need for implementation research approaches to scaling up
and sustaining effective interventions based on core scientific principles and social equity values.
Through its convening and communication functions, and targeted pilot funding, CDC will continue to work with many
partners and stakeholders to accelerate the implementation of validated genomic
applications for the benefit of population health.CDC - Blogs - Genomics and Health Impact Blog – Peeling the pyramid, scaling the onion—how to implement genomic medicine
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