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Diagnostic deserts: Community‐level barriers to appropriate genetics services

The limited geographic spread of medical genetics across the country has been well-documented (Penon-Portmann et al., 2020). The majority of the populace still lives outside of the catchment area of medical geneticists, with these providers often densely concentrated in large metropolitan areas (Penon-Portmann et al., 2020). Moreover, it has recently been reported that the United States has 2.5 times fewer clinical geneticists than the estimated need for this specialty (Bennett et al., 2017), which has been described as a “critical shortage” (PenonPortmann et al., 2020). Access to appropriate molecular diagnostic services is therefore a significant issue facing medical genetics and American healthcare more broadly. The concept of food deserts has been used since the early 1990s (Cummins, 2002) to explore the community-level barriers people face in acquiring affordable and nutritious food. The concept has been expanded more recently to investigate justice issues as diverse as access to legal services (Legal Deserts: How Texas, New York Are Tackling the Problem, 2022) and access to the internet (Mathews & Ali, 2022). Of particular relevance here, the concept of healthcare deserts has begun to gain purchase in the literature on inequalities (Carr et al., 2017; Qato et al., 2014; Wisseh et al., 2021). Additionally, domain-specific healthcare deserts have been described, including, for example, medication (Amstislavski et al., 2012) and surgical deserts (HPRI data tracks: Surgical deserts in the U.S.: Counties without surgeons, 2010). While as of yet, there has not been a systematic or scoping review of the literature on healthcare deserts, these areas can broadly be said to mirror traditional food deserts in being defined along two primary dimensions. One dimension is the distance or time it takes for a person to arrive at the nearest food market or healthcare facility. The second dimension consists of the socioeconomic factors that may impact a person's ability to acquire nutritious foods or appropriate healthcare services, irrespective of the physical location at which they are obtained (Beaulac et al., 2009). However, unlike traditional food deserts, healthcare deserts are affected by a wide variety of other barriers, and their subtypes are heterogeneous in nature. It is for this reason that several healthcare specialty deserts have been enumerated. For instance, barriers to access to one healthcare service such as pharmacies may or may not mirror barriers to access to another healthcare service, such as primary care, in any given community. In the same way, having access to good primary care does not necessarily mean that one has access to competent genetic services. Thus, given healthcare deserts' heterogeneity, there is the important potential for issues regarding access to one sort of healthcare service to be unique to that service. In what follows, we propose the concept of diagnostic deserts to analyze the distinctive set of barriers that communities of patients with undiagnosed rare genetic disorders face on their journey to a molecular diagnosis for their symptoms. Diagnostic deserts prevent these communities from accessing expedient, affordable, and appropriate care. Such deserts are distinguished from other forms of healthcare desert by a specific and unique constellation of issues entailed in the diagnostic odyssey. Moreover, they pose particular ethical issues of justice as they affect not only individuals but also communities of individuals, as members of specific classes. Our conceptualization of diagnostic deserts is based on a series of interviews we conducted with patients seen in the Undiagnosed and Rare Disease Clinic (URDC) at Indiana University and an extensive review of the literature on issues in accessing genetics services and on healthcare deserts. (Interview materials are available upon request from the corresponding author.) We believe that this conceptualization will make visible the unique, community-level barriers that affect patients in need of molecular diagnostic services. Following Shaw (Shaw, 2006), we break these Received: 3 October 2022 Accepted: 8 October 2022