domingo, 24 de junio de 2012

CDC - Blogs - Genomics and Health Impact Blog – Peeling the pyramid, scaling the onion—how to implement genomic medicine


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
pyramid of onion slicesIn 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 recommendationExternal Web Site Icon 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 patientsExternal Web Site Icon 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 providersExternal Web Site Icon 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 relativesExternal Web Site Icon. A Lynch Syndrome Screening Network was recently launched to accelerate implementation of Lynch Syndrome testing.
Pyramid is divided into 5 layers with an arrow pointing down on the left side (text: Increasing Population Impact) and an arrow on the right side pointing up (text: Increasing individual Effort needed): bottom to top text: Socioeconomic Factors, Changing the Context to Make Individuals' Default Decision Healthy, Long-Lasting Protective Interventions, Clinical Interventions, Counseling and Education
Figure 1
So what would it take for successful implementation of recommended genomic medicine applications? A mixture of multilevel interventions and research to support them are needed for successful implementation and evaluation. In 2010, Dr Thomas Frieden, CDC Director introduced the impact “pyramid”External Web Site Icon 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 impactExternal Web Site Icon.
Multilevel influences on Health and Healthcare (Cancer Example)
Figure 2
Nevertheless, extensive analysis based on 13 papers published in a recent JNCI monographExternal Web Site Icon indicate that we know very little on how to combine interventions at multiple levels in the context of cancer in general, and genomics in particularExternal Web Site Icon, to successfully implement genomic applications in practice, and to achieve the best possible outcomes at the population level. As Taplin et alExternal Web Site Icon 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 valuesExternal Web Site Icon. 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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