The Evolution of Primary Care: Where Does Genomic Screening Fit In?

January 30, 2023

Primary care was first introduced to the healthcare ecosystem in the early 1960s, and even in its early days, the term had many different definitions and could be applied to many categories of healthcare including the care provided by certain types of clinicians such as nurses, physicians, nurse practitioners, a set of activities or services conducted by primary care clinicians, or a level of care or setting such as community hospital or clinic.

Despite the variety of ways primary care can be defined or applied, it has long been recognized as a necessary and foundational component of the US healthcare system, although in practice, that foundation has not always been as strong as it should be to serve the wide variety of clinical and socioeconomic needs in this country.

What types of healthcare services are included in primary care?

In the late 1990s, the Institute of Medicine convened a committee that defined four categories of services that are within the scope of primary care, including 1) Acute care, 2) Chronic care, 3) Prevention and early detection, and 4) Coordination of referrals.

Over the last 25 years, these four primary care services categories have remained relevant, although the individual procedures and services within the categories have evolved due to advances in technology, changes in clinical guidelines, and the adoption of new care models such as direct primary care and membership-based primary care clinics.

How does genetic screening fit into primary care?

Primary care physicians play a pivotal role in preventive services, such as capturing and applying family health histories as a mechanism for identifying patients who have a high genetic risk for disease. However, family history-based screening can lead to under ascertainment of pathogenic conditions that are of high public health importance because they can lead to cancer and heart disease. For example, the Centers for Disease Control and Prevention (CDC) has included hereditary breast and ovarian cancer (HBOC), Lynch syndrome, and familial hypercholesterolemia (FH) in the CDC Tier 1 genomic applications because nearly 2 million people in the United States have genetic mutations that predispose them to these conditions.

The CDC has said that “at present, [HBOC, Lynch syndrome, and FH] are poorly ascertained by the healthcare system, many individuals and families affected by them are not aware that they are at risk; however, early detection and intervention could significantly reduce morbidity and mortality.” To combat the under-detection of these conditions that can occur when only medical history-based screening is utilized, the implementation of genetic screening in the primary care setting could increase the early detection of patients who may be predisposed to cancer and heart disease and allow those patients to get the treatment or monitoring needed to manage these highly actionable conditions. As with other new changes in primary care, bringing genetic screening to a new setting and to more people will require health systems to partner with genetic testing companies and find ways to incorporate these services in a way that supports the continuation of care by providers and transparency of the purposes to patients.

The inclusion of genetic screening as a primary care service seems logical when considering the four categories of primary care services identified by the Institute of Medicine, and over the last 20 years, changes in the perception of genetic screening have seen it become more commonly used in this setting.

In 2004, an article published in the Annual Review of Genomics and Human Genetics said, “Although most genetic services are provided by genetics professionals in specialty centers, primary care providers will increasingly need to be aware of the clinical implications of genetics.”
Between 2014 and 2016, almost 500 primary care providers were surveyed on their views on genetic testing for chronic diseases, and 70% agreed that it would improve clinical outcomes within five years.
From 2020 to 2021, a study was conducted that identified six health systems or states that had implemented population-wide genetic screening programs that aimed to improve outcomes while gathering evidence that would help clinicians and researchers better understand the impact of using genomics more broadly. Of those six programs, one (The Healthy Nevada Project) was run by Helix, and the success of that program showed an appetite in the market for health systems to implement population genomic programs at scale.

Where do we go from here?

As we begin 2023, Helix has now partnered with five large health systems around the United States, helping them to launch population-wide genetic screening programs within their communities to impact hundreds of thousands of patient lives. The outcomes of these large-scale programs, as well as other pilot programs around the country, will continue to reshape the approach to genetic screening in primary care by creating access to another tool to improve overall patient care.

¹Institute of Medicine (US) Committee on the Future of Primary Care; Donaldson MS, Yordy KD, Lohr KN, et al., editors. Washington (DC): National Academies Press (US); 1996. ²Manickam K,vBuchanan AH, Schwartz MLB, et al. Exome sequencing-based screening for BRCA1/2 expected pathogenic variants among adult biobank participants. JAMA Netw Open 2018 ³https://www.cdc.gov/genomics/implementation/toolkit/tier1.htm ⁴Diane Hauser, Aniwaa Owusu Obeng, Kezhen Fei, Michelle A. Ramos, and Carol R. Horowitz. Views Of Primary Care Providers On Testing Patients For Genetic Risks For Common Chronic Diseases. Health Affairs, Vol. 37, No. 5. May 2018. ⁵Foss KS, O’Daniel JM, Berg JS, Powell SN, Cadigan RJ, Kuczynski KJ, Milko LV, Saylor KW, Roberts M, Weck K, Henderson GE. The Rise of Population Genomic Screening: Characteristics of Current Programs and the Need for Evidence Regarding Optimal Implementation. J Pers Med. 2022 Apr 26;12(5):692.

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