M. Patrice Eiff

Role of Primary Care Providers in the Delivery of Genetics Services

Fruits of the Human Genome Project are already transforming health care. Primary care providers, regardless of specialty, will need to integrate new genetics knowledge into routine practice in order to fulfill their role in genetics services delivery. Unfortunately, few are prepared for this revolution, and current educational efforts are inadequate. To effect the changes that are needed, we must teach genetics as an integrative discipline at all stages of professional education and emphasize the value of this knowledge to practice.

Will the learners be learned

One can argue just how drastic the changes in medicine will be as the genetics revolution is realized. What is less controversial is that changes are coming and that they will impact all providers. Awareness of this impact has been in the consciousness of both the genetics and primary care communities, but the driving forces of change have shifted recently. Now the genetics community is needing to push less as the community of primary care providers starts to pull. From the literature of the past decade on the role of primary care providers (PCPs) in the delivery of genetics services, two points come through clearly. First, PCPs recognize their need for greater education and training. This has been well-documented among a diverse range of providers in a variety of delivery systems from around the world.1–14 Based on these studies, we may fairly generalize that the needs are universal and pressing. PCPs have indicated that they are uncomfortable with many genetics concepts, that they are not sufficiently trained to provide even basic genetic counseling, and that they lack knowledge of genetics resources. In this issue of Genetics in Medicine, the article by Metcalfe et al.14 effectively underscores a second, more subtle point that echoes the literature: PCPs want to have a substantial hand in determining what they are taught about genetics and how. Early in the past decade, most physicians were unconvinced of the relevance of genetics to their practice.5 A significant shift has occurred since then. Now, the relevance is taken for granted and the prevailing sentiment is that PCPs should play a central role in defining the content and scope of genetics training. What is less clear is the role the genetics community will play in this educational process. Every expert on educational methods acknowledges the importance of trainees’ needs in driving curriculum development. This fact informed the decision by the Genetics Services Branch of the Maternal and Child Health Bureau, Health Resources and Services Administration, to create training programs in genetics for physicians in primary care (http://bhpr.hrsa.gov/dm/genpc.html). These programs, by PCPs for PCPs, wisely have focused on faculty development. If successful, these new programs will ultimately reach many physicians and do so at an early stage in their careers. That’s all good news. What is uncertain is whether these programs will address the fundamental cognitive shift required for providers to consider genetics in every patient encounter. This shift is not what PCPs are asking for but more what the genetics community is hoping for. PCPs are asking for instruction on specific content, and there is no debate about this need. However, with the rapid pace of change in genetic medicine, specific content will fall short of what PCPs really need. If primary care genetics education focuses only on imparting information, a great opportunity to impact real change will be lost. PCPs are requesting algorithms to help them manage patients with genetic disorders and decide when to refer them to a specialist. The most cited examples are guidelines related to patients with family histories of cancer,15–17 but this will expand over the next few decades to include many common multifactorial disorders. Much of the motivation to distill medical decision-making to algorithms comes from pressure to standardize care and measure outcomes. With no additional training and their current cognitive strategy, most physicians can readily apply an algorithm to the care of a wheezing patient. But for patients with inherited cancer risk, the algorithm is complex and demands both a broad knowledge of genetics and a different cognitive strategy. The algorithm alone is not enough. In fact, a genetics-naive physician attempting to apply a family cancer algorithm may cause harm to his or her patients. A thoughtful, deliberate, and informed refinement of the “usual” cognitive strategies will have the greatest impact on integrating genetics thinking into all of health care. The clinical reasoning skills being applied by most physicians fall short when rarity, variable expressivity, incomplete penetrance, and pleiotropy come into play. These are also the reasons why imparting information about genetic disorders would serve relatively few patients; most don’t fit the textbook case. The real challenge in creating a workforce to deliver primary-level genetics services18 is finding ways to help PCPs raise genetic hypotheses or “think genetically” with every patient. Patients seen in the primary care setting do not fit neatly into categories based on illness, gender, or age. The PCP already applies a critical perspective based on the individual in the context of his or her family and community. Medical geneticists use these same skills and are well-positioned to assist PCPs in developing genetics thinking as it applies to all patients. Strategies have been suggested to help primary care physicians overcome common barriers to recognizing and diagnosing genetic disease. They help physicians develop clinical reasoning skills and heuristics that address these barriers and increase the likelihood that a genetic hypothesis will be considered. They may ultimately enable PCPs to apply a range of genetics algorithms wisely. The strategies were proposed by Worthen,19 a primary care physician who is especially insightful about his own evolution toward genetics thinking and, frankly, rather genetics-sophisticated. They are as follows: (1) set a low threshold for genetic hypotheses; (2) try to develop a unifying hypothesis for disparate findings; (3) maintain and update the pedigree; (4) look for clues in presentation and setting; (5) distinguish sporadic, familial, and inherited cases; (6) consider variation; (7) become familiar with resources; and (8) allow time. The last strategy may be the most substantial barrier to PCPs delivering primary-level genetics services. It takes time to address issues of confidentiality and genetic March/April 2002 Vol. 4 No. 2 e d i t o r i a l

Lessons Learned and Challenges Ahead: Report from the OCHIN Safety Net West Practice-based Research Network (PBRN)

Introduction: We recently completed a strategic planning process to better understand the development of our 5-year-old practice-based research network (PBRN) and to identify gaps between our original vision and current progress. Although many of our experiences are not new to the PBRN community, our reflections may be valuable for those developing or reshaping PBRNs in a changing health care environment. Lessons Learned: We learned about the importance of (1) shared vision and commitment to a unique patient population; (2) strong leadership, mentorship, and collaboration; (3) creative approaches to engaging busy clinicians and bridging the worlds of academia and community practice; and (4) harnessing data from electronic health records and navigating processes related to data protection, sharing, and ownership. Challenges Ahead: We must emphasize research that is timely, relevant, and integrated into practice. One model supporting this goal involves a broader partnership than was initially envisioned for our PBRN—one that includes clinicians, researchers, information architects, and quality improvement experts partnering to develop an innovation center. This center could facilitate development of relevant research questions while also addressing “quick-turnaround” needs. Conclusions: Gaps remain between our PBRN′s initial vision and current reality. Closing these gaps may require future creativity in building partnerships and finding nontraditional funding sources.

Assessing the impact of innovative training of family physicians for the patient-centered medical home.

BACKGROUND New approaches to enhance access in primary care necessitate change in the model for residency education. PURPOSE To describe instrument design, development and testing, and data collection strategies for residency programs, continuity clinics, residents, and program graduates participating in the Preparing the Personal Physician for Practice (P(4)) project. METHODS We developed and pilot-tested surveys to assess demographic characteristics of residents, clinical and operational features of the continuity clinics and educational programs, and attitudes about and implementation status of Patient Centered Medical Home (PCMH) characteristics. Surveys were administered annually to P(4) residency programs since the project started in 2007. Descriptive statistics were used to profile data from the P(4) baseline year. RESULTS Most P(4) residents were non-Hispanic white women (60.7%), married or partnered, attended medical school in the United States and were the first physicians in their families to attend medical school. Nearly 85% of residency continuity clinics were family health centers, and about 8% were federally qualified health centers. The most likely PCMH features in continuity clinics were having an electronic health record and having fully secure remote access available; both of which were found in more than 50% of continuity clinics. Approximately one-half of continuity clinics used the electronic health record for safety projects, and nearly 60% used it for quality-improvement projects. CONCLUSIONS We created a collaborative evaluation model in all 14 P(4) residencies. Successful implementation of new surveys revealed important baseline features of residencies and residents that are pertinent to studying the effects of new training models for the PCMH.

Five Key Leadership Actions Needed to Redesign Family Medicine Residencies

BACKGROUND New skills are needed to properly prepare the next generation of physicians and health professionals to practice in medical homes. Transforming residency training to address these new skills requires strong leadership. OBJECTIVE We sought to increase the understanding of leadership skills useful in residency programs that plan to undertake meaningful change. METHODS The Preparing the Personal Physician for Practice (P4) project (2007-2014) was a comparative case study of 14 family medicine residencies that engaged in innovative training redesign, including altering the scope, content, sequence, length, and location of training to align resident education with requirements of the patient-centered medical home. In 2012, each P4 residency team submitted a final summary report of innovations implemented, overall insights, and dissemination activities during the study. Six investigators conducted independent narrative analyses of these reports. A consensus meeting held in September 2012 was used to identify key leadership actions associated with successful educational redesign. RESULTS Five leadership actions were associated with successful implementation of innovations and residency transformation: (1) manage change; (2) develop financial acumen; (3) adapt best evidence educational strategies to the local environment; (4) create and sustain a vision that engages stakeholders; and (5) demonstrate courage and resilience. CONCLUSIONS Residency programs are expected to change to better prepare their graduates for a changing delivery system. Insights about effective leadership skills can provide guidance for faculty to develop the skills needed to face practical realities while guiding transformation.

Code of Practice on Human Genetic Testing Services Supplied Direct to the Public

This article is also accessible online at: http://BioMedNet.com/karger 1. Testing Laboratories, Equipment and Reagents All equipment and reagents for testing should be manufactured and maintained to an appropriate level and provide assured levels of accuracy and reliability that reflects current best practice. All laboratories offering genetic testing services should be appropriately staffed and equipped, and should: (1) participate in an appropriate accreditation scheme; (2) join an appropriate external quality assurance scheme, and (3) perform adequate internal quality control. All such systems should reflect current best practice.

Financing Residency Training Redesign

BACKGROUND Redesign in the health care delivery system creates a need to reorganize resident education. How residency programs fund these redesign efforts is not known. METHODS Family medicine residency program directors participating in the Preparing Personal Physicians for Practice (P(4)) project were surveyed between 2006 and 2011 on revenues and expenses associated with training redesign. RESULTS A total of 6 university-based programs in the study collectively received

Concerning trends in allopathic medical school faculty rank for Indigenous people: 2014–2016

5,240,516 over the entire study period, compared with

Perceptions of Becoming Personal Physicians within a Patient-CenteredMedical Home

4,718,943 received by 8 community-based programs. Most of the funding for both settings came from grants, which accounted for 57.8% and 86.9% of funding for each setting, respectively. Department revenue represented 3.4% of university-based support and 13.1% of community-based support. The total average revenue (all years combined) per program for university-based programs was just under

Primary care physicians' utilization and perceptions of genetics services.

875,000, and the average was nearly