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Fostering applications of genetics in primary care: What will it take?

Radical new approaches and resources will be needed to facilitate the appropriate use of genetic information in all aspects of medical care. As new discoveries are made, family history and personal genetic information will increasingly influence clinical decisions involving prevention, diagnosis, and therapy.1 Yet most of these applications are in their infancy, with many still uninvestigated questions about how genetic information will become part of primary health care. These questions are important because only by involving public health planners and primary care clinicians will the broadest range of patients have access to the benefits and protection from the harms arising from advances in human genetics. In a literature review in this issue, Suther and Goodson2 provide a useful summary and critique of evidence about barriers that must be addressed as applications of genetics are incorporated into primary care. Reviewing 18 studies published between 1993 and 2001, the authors characterize barriers to “the routine provision of genetic services” that were perceived by primary care physicians as (1) lack of genetic knowledge, (2) lack of detailed or updated family history, and (3) lack of referral guidelines. Identification of these important barriers is a start toward surmounting them, but the analysis is constrained by limitations of the studies that have been published to date. Most of the studies reviewed by Suther and Goodson were not designed primarily to identify barriers preventing primary care physicians from providing genetic services. Some attempted to describe or to identify gaps in the current state of practice, some to collect primary care physicians’ opinions about what additional resources would be needed in the future. Most of the data are based on primary care physicians’ self-report, rather than observed behavior. Their perspective is that of North American and European primary care physicians or genetic specialists, but they do not analyze barriers from the perspective of staff, patients, families, ethnic groups, payors, health system planners, clinicians in other parts of the world, or public health practitioners. The authors do not comment on whether, during the 8 years spanned by these published studies, clinicians’ interest and knowledge or skill in using genetics in primary care changed. However, it appears that earlier studies focused on clinicians’ lack of knowledge about genetics, while more of the later studies pointed out barriers related to implementing referral guidelines and constraints on the use of family history. Only a few of these published studies evaluated methods to increase the ability of primary care physicians to systematically apply genetics in practice, which is the most important issue for capacity-building in the near future. What will it take? It may be instructive to consider the question, What specific “genetic services” should in the near future be within the province of primary care practice? Then “barriers” and ways to facilitate providing these services can be discovered. Suther and Goodson2 infer that primary care practice is likely to include genetic risk stratification for prevention, counseling regarding genetic test results, referring patients with genetic risks, prescribing genetic therapies as they become available, and “comprehensive” family history-taking. I would add that primary care will inevitably involve revisiting genetic information as it affects people throughout the life cycle, and thus will require enduring, portable, searchable, and readily updated records of the family genetic history.