When I describe my job to friends, family and even patients, I often turn to genetic exceptionalism — the framework that conceptualizes genetic data as unique compared to other health information — to differentiate my role from other providers. My graduate training prepared me to think critically about the complicated and varied relationships that people have to their genes, from the empowerment they may feel by better understanding their hereditary cancer risk to the profound sense of disembodiment that arises when their DNA is cast as dysfunctional, newly unfamiliar to them. However, once I started clinical practice in a market whose genetic counselors cannot meet the high demand for their services, I encountered the limitations of genetic exceptionalism. If all genomic data reveals something profound for all people, this implies that a specialist with a high level of genetic literacy, such as a genetic counselor or medical geneticist, should always communicate this information to patients. But in the era of personalized genomic medicine, such a model may impede patients’ access to and understanding of their own data. Within this context, what philosophical and practical tools could help GCs strike a balance between the limited supply of genetics experts and the growing demand for genomic information?

From a rhetorical perspective, alternatives to genetic exceptionalism, such as the “genomic contextualism” idiom from Garrison et al., have been proposed. Genomic contextualism is a paradigm that encourages policymakers and clinicians within genetics to reflect on the similarities and differences of genetic testing to other medical tests and, crucially, to evaluate on a case-by-case basis which characteristics of the test and potential results warrant higher levels of care or expertise. Adopting the language and framing of genomic contextualism is a useful starting point for developing new workflows. Whether formally or not, many genetics practitioners apply the principles of genomic contextualism when deciding which referrals to see. We have used this lens in my clinic to develop a practical solution that addresses the ever-increasing need for GCs: education and outreach for nongenetics providers. By leaning on our relationships with colleagues and within our health care communities, we can increase access to genetic testing and accurate results interpretations for patients even when we cannot be a direct point of contact.

At our two-person GC office, we send written educational materials to clinicians who refer patients for testing of common, low-penetrance mutations that typically do not impact their management. Examples from our practice include carriers of HFE-related hemochromatosis with mildly elevated iron, SEPINA1 variant analysis for patients with low alpha-1 antitrypsin levels, inherited thrombophilia testing for unaffected individuals, HLA genotyping for workup of GI issues, and people curious about MTHFR testing, among many others. We drafted detailed letters that serve as resources for both the referring provider and the patient. For instance, our MTHFR letter reviews the NSGC and ACMG recommendations not to test for MTHFR deficiency. For information-seeking patients and providers, it also describes the high prevalence of polymorphisms within this gene and why genetic testing cannot tell us what symptoms a person is at risk for or explain their current clinical features. For conditions where testing is indicated but a detailed pretest counseling appointment is not, we also offer to help the ordering provider interpret results and answer additional questions as needed.

Sending these letters allows us to prioritize more complex cases that require specialized pretest counseling. At the same time, we ensure that nongenetics practitioners in our community are equipped to discuss frequent questions and concerns. However, this approach represents just one possible component of a larger interdisciplinary model. Our clinic also has arrangements with other departments in our health system, such as the pediatric neurology team, to review VUS and positive results with patients and advise the ordering clinician on next steps. Beyond our institution, there are GCs who speak at national conferences or give lectures to residents in medical school about when to refer patients to genetics, how to order genetic testing themselves and how to read test reports. One GC colleague answers questions about genetic testing and results from primary care providers by email. The clinical focus of these questions ranges from hereditary cancer to connective tissue disorders to alpha 1 antitrypsin deficiency. She wants her comprehensive responses to serve as the basis for a strong genetics foundation that primary care providers can use for future patients.

Each of these strategies operates in the spirit of genomic contextualism, particularly in determining how to allocate our expertise so that as many patients as possible get appropriate care. While often this looks like direct patient interactions, provider education is another crucial component of our scope of practice, one that can reduce our workload and strengthen our relationships with other clinicians. When it comes to the theoretical and practical implications of genomic contextualism, I remain optimistic that it will encourage greater genetic literacy for medical professionals and the public, downstream of which lies improved access to genetic testing and health care.

Sources

1. Boothe E, Greenberg S, Delaney CL, Cohen SA. Genetic counseling service delivery models: A study of genetic counselors' interests, needs, and barriers to implementation. J Genet Couns. 2021 Feb;30(1):283-292. doi: 10.1002/jgc4.1319. Epub 2020 Sep 3. PMID: 32885542.
2. Borle K, Kopac N, Dragojlovic N, Llorian ER, Lynd LD; GenCOUNSEL Study. Defining Need Amid Exponential Change: Conceptual Challenges in Workforce Planning for Clinical Genetic Services. Clin Ther. 2023 Aug;45(8):695-701. doi: 10.1016/j.clinthera.2023.07.005. Epub 2023 Jul 27. PMID: 37516568.
3. Garrison NA, Brothers KB, Goldenberg AJ, Lynch JA. Genomic Contextualism: Shifting the Rhetoric of Genetic Exceptionalism. Am J Bioeth. 2019 Jan;19(1):51-63. doi: 10.1080/15265161.2018.1544304. PMID: 30676903; PMCID: PMC6397766.
4. Ormond KE, Laurino MY, Barlow-Stewart K, Wessels TM, Macaulay S, Austin J, Middleton A. Genetic counseling globally: Where are we now? Am J Med Genet C Semin Med Genet. 2018 Mar;178(1):98-107. doi: 10.1002/ajmg.c.31607. Epub 2018 Mar 25. PMID: 29575600; PMCID: PMC5947883.
5. Truong TK, Kenneson A, Rosen AR, Singh RH. Genetic Referral Patterns and Responses to Clinical Scenarios: A Survey of Primary Care Providers and Clinical Geneticists. J Prim Care Community Health. 2021 Jan-Dec;12:21501327211046734. doi: 10.1177/21501327211046734. PMID: 34583568; PMCID: PMC8485275.

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