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Telegenetics, Patient-Centered Medical Homes and the Role of Primary Care Providers


It has become more and more evident with time that the health care delivery system in the United States is riddled with issues, which have led to many disagreements about policy because there is no clear and universally acceptable solution to our problems. In many ways, the system seems to step on its own feet as the health care professionals working within it fight to make it work the way it is intended or find themselves at odds with their own professional principles. This dysfunction amounts to what Dr. Atul Gawande calls a giant conundrum. Much to our chagrin, the shortcomings of our system are much easier to identify than its strengths. For example, when it comes to health-related expenditures, the United States leads the global pack in spending more per capita than any other developed country. This fact requires virtually no mention on account of how pervasive the topic has become in political and civil discourse alike. It is also well known that our country consistently fails to show a commensurate increase in the quality of health care outcomes, which include such metrics as life expectancy and infant mortality. This situation is analogous to the world’s most expensive cruise liner capsizing on its maiden voyage due to a basic structural defect. It portends a bleak future for our country’s health care system if it continues unchecked.

Fortunately for all of us, there is hope on the horizon: providers are exploring different models of health care delivery, including several patient-centered models, and testing them for utility under current payment schemes. I  became well acquainted with these models, as well as the economic and health-related benefits many of them offer, earlier this summer while doing research between my first and second years of medical school. What I learned from the experience is this: there is actual hope. The world’s most expensive cruise liner is not doomed to an ineluctable burial at sea, dragging down with it the lives of millions. In fact, there is hope that we can get this ship back on track, keep it afloat for many years and direct it toward calmer and more prosperous waters. I observed firsthand how emerging health care delivery models, such as telemedicine and patient-centered medical homes (PCMHs), can directly impact patient care in the primary care setting.

For most of the time I spent with the University of Oklahoma Health Sciences Center’s Department of Family and Preventive Medicine, I was working on a systematic review of the role of primary care in providing genetics services to underserved populations. The review focused on a number of elements including genetics-related literacy among primary care providers, delivery of genetic services, barriers to the provision of genetics services in the primary care setting and primary care support and integration strategies. The reality that many patients, particularly those in medically underserved areas, lack access to specialty care prompted our investigation into what is being done on the primary care front to compensate for the lack of access to clinical geneticists and genetic counselors. The crux of what we discovered can be distilled down to one simple fact: primary care providers feel unequipped to offer genetics services across the board. While much progress has been made in improving access to and knowledge of genetics services, substantial gaps remain in the delivery of these services to medically underserved populations.

There are many ways to explain these observations. One of the most important explanations is that many clinicians state that their education in genetics was not sufficient to prepare them to provide services to their patients. Despite an increasing awareness of genetic disorders and their breadth, there remains a lack of practical genetics knowledge, appropriate approaches to testing and methods for patient education among primary care providers. As a result, many patients may receive unacceptably delayed diagnoses or may be misdiagnosed. Underserved populations are particularly susceptible to this knowledge gap because they generally lack access to specialty services and have to rely on primary care providers. This knowledge- and resource-based quandary creates a lose-lose scenario for patients and providers located in underserved communities because overwhelmingly those providers are unable to give their patients the means to achieve good health outcomes. Fortunately, promising solutions to these problems lie in connecting primary care providers with providers who are experts in their respective fields — geneticists in this particular case.

From both a financial and logistical standpoint, it is not practical to physically place specialists in many underserved communities. Therefore, connections between specialists and primary care providers must be made remotely. Modern technologies offer the indispensable option of spanning the vast distances that can separate primary care providers and specialists. When applied in the context of medical care, this approach is called telemedicine. Telemedicine technologies have been studied extensively, and several research efforts have demonstrated the cost-effectiveness and ease of application of telemedicine. (Nitin Venugopal, one of in-Training’s Writers-in-Training, wrote an in-depth analysis of these technologies and explained their uses well.) One prime example of telemedicine in action is Project ECHO, an initiative conceived by researchers at the University of New Mexico School of Medicine. Project ECHO was originally designed as a hub-and-spoke model in order to address the alarmingly low rate of hepatitis C diagnoses in rural New Mexico. It is important to keep in mind that Project ECHO is just one of several models designed to connect primary care providers with specialists; options for getting the job done are diverse and continually growing in number.

Obtained from: https://echo.unm.edu/wp-content/uploads/2017/09/ECHO-Infographic-FINAL-08.15.2017.png.

Although it is a well-studied approach with many potential benefits, telemedicine is not the only way to go; other solutions do exist. One such solution that is quickly gaining acceptance in the medical community is the PCMH model, a format of health care delivery in which multiple health care services are collocated in order to promote better coordination, continuity and quality of care. (Since I live in Tulsa, Oklahoma, this model reminds me of the way the Indian Health Care Resource Center is set up and run.) Besides the potential benefits of improved health outcomes, PCMHs also provide the direct benefit of lowering overhead costs for different health care professionals, including physicians, and lowering the cost of care passed on to patients. Although the initial investment in setting up a PCMH can be remarkably large, the payoff from both ethical (e.g., promoting beneficence and distributive justice) and pragmatic (i.e., having a reasonable return on investment) standpoints down the road provide more than enough justification. In addition, PCMHs allow for primary care providers to directly collaborate and consult with genetic counselors and/or clinical geneticists on specific cases because the lower operational costs and improved access to patients make it more practical for specialists to work in less populous places. In this way, PCMHs offer some of the same benefits that telemedicine strategies do. Moreover, PCMHs can serve as a way to concentrate financial resources that would make purchasing the equipment necessary for telemedicine more manageable.

These actionable solutions are some of the most interesting discoveries from conducting this research. Our primary goal initially was to determine what resources are available to our clinicians to become better educated on genetic services and to establish methods for informing clinician training guidelines in order to promote optimal health outcomes, especially at the intersection of genetic disorders and primary care. In the course of conducting the systematic review, we identified several principal themes in the literature:

  • Primary care providers overwhelmingly cite barriers to providing genetics services that include insufficient time to provide services, a lack of clinical guidelines, a lack of access to appropriate telegenetics resources and a lack of training in genetics (which is also described as a lack of confidence).
  • Telemedicine resources, like Project ECHO, are practical and sustainable ways to connect primary care providers in underserved areas with specialists at academic health centers and major medical facilities. This approach to health care increases the flow of knowledge on genetics-related topics among many other areas of care and counseling.
  • PCMHs have multiple advantages, including better access to care and improved continuity of care for underserved populations. PCMHs allow for an optimal allocation of health care resources that would make acquiring the technology needed for telemedicine services much more feasible.

These conclusions have a solid foundation of support and make intuitive sense based on what we understand about their applications. They also make it clear that a new age of health care delivery is upon us. We only need to continue to expand what already exists in order to tip the scale on our health care expenditures versus our health outcomes, bringing them more into balance with one another. As someone who aspires to be a family physician, these findings give me a deep sense of satisfaction that my future practice of medicine will very likely be enhanced by the support of a team of health care professionals working together to serve our patients as well as we possibly can.

Ashten Duncan Ashten Duncan (2 Posts)

Managing Editor

OU-TU School of Community Medicine


Ashten Duncan is a second-year medical student at the OU-TU School of Community Medicine located in Tulsa, Oklahoma. He is a graduate of the University of Oklahoma, where he completed a B.S. in Microbiology alongside a minor in Chemistry and in French. An aspiring family physician, Ashten is currently on a National Health Service Corps (NHSC) scholarship, which entails a 4-year term of service in an underserved community following residency training in primary care. He is planning to pursue a MPH degree between his 2nd year and 3rd year of medical school, with the intention of applying the public health knowledge to his future practice.