When Covering and Discovering Are at Odds: How the Logic of US Health Insurance Undercuts the Promise and Equity of Precision Medicine for People with Hereditary Cancer Risks.

When Covering and Discovering Are at Odds: How the Logic of US Health Insurance Undercuts the Promise and Equity of Precision Medicine for People with Hereditary Cancer Risks - PMC Skip to main content An official website of the United States government Here's how you know Here's how you know Search Log in Primary site navigation Search Log in Search PMC Full-Text Archive Search in PMC Journal List User Guide As a library, NLM provides access to scientific literature. Inclusion in an NLM database does not imply endorsement of, or agreement with, the contents by NLM or the National Institutes of Health. Learn more: PMC Disclaimer | PMC Copyright Notice J Health Polit Policy Law . Author manuscript; available in PMC: 2026 Jun 1. Published in final edited form as: J Health Polit Policy Law. 2026 Jun 1;51(3):433–467. doi: 10.1215/03616878-12317993 When Covering and Discovering Are at Odds: How the Logic of US Health Insurance Undercuts the Promise and Equity of Precision Medicine for People with Hereditary Cancer Risks Emily Hammad Mrig 1 , Mark Schlesinger 2 , Jennifer M Weiss 3 , Nancy Pandhi 4 , Katherine Clegg Smith 5 , Nora Jacobson 6 , Rachel Grob 7 Author information Copyright and License information 1 University of California, San Francisco 2 Yale University 3 University of Wisconsin-Madison 4 University of New Mexico 5 Johns Hopkins University 6 University of Wisconsin-Madison 7 University of Wisconsin-Madison PMC Copyright notice PMCID: PMC13046090  NIHMSID: NIHMS2130862  PMID: 41254836 The publisher's version of this article is available at J Health Polit Policy Law Abstract Context: Despite precision medicine’s promise to revolutionize healthcare, access remains uneven, and disparities persist. This study examines how conflicts between the institutional logics of genetic science (“discovering”) and market-based health insurance (“covering”) impede precision-driven health equity. Methods: We conducted 44 semi-structured, in-depth interviews with individuals at elevated risk for hereditary cancer. Data were analyzed using an abductive approach, combining thematic analysis with grounded theory tools. Findings: Analysis reveals seven “zones of conflict” where precision medicine’s aspirations clash with insurance practices, creating barriers to genetic testing and related services. These zones span initial access barriers (e.g., complex billing, inconsistent guideline uptake) and downstream care factors (e.g., financial concerns, lack of retesting guidelines). The interplay between expanding genomic knowledge and the fragmented American healthcare system particularly disadvantages underrepresented and minority populations. Conclusions: Participant experiences reveal more unanticipated sources of inequity than precision medicine proponents anticipated. Incremental reforms targeting these conflict zones, such as guideline harmonization, expanding coverage mandates, and enhanced patient advocacy related to insurance coverage, could mitigate cascading disparities. This study highlights the importance of addressing institutional misalignments to realize the full equitable potential of precision medicine involving genetics. Keywords: Precision medicine, health insurance, disparities, coverage, Affordable Care Act Precision medicine promises to revolutionize clinical practice through individualized approaches to prevention, diagnosis, treatment, and disease management. While genetic information has altered health prospects for many patients ( Bean et al. 2021 ; Murray et al. 2021 ), the purported benefits of improved and more equitable health outcomes remain elusive. In the United States, despite dramatic reductions in genetic testing costs over the past decade, the National Academy of Medicine’s Roundtable on Genomics and Precision Medicine documents extensive barriers to and inequities in testing, warning that precision medicine initiatives could “exacerbate existing disparities and further disadvantage already underserved populations” ( NAM 2023 ). At the heart of this issue lies a disjunction between the logic of market-based health insurance (“covering”) and that of precision medicine (“discovering”). This paper demonstrates how conflicts arising from this disjunction result in imprecise and inequitable practices. We focus on how insurance practices and competitive pressures in the insurance market hinder the equitable adoption of genomic medicine, a key component of precision medicine that relies on genetic testing as a fundamental tool (see table 1 ). This distorts how individuals and families learn from genetic testing and make informed choices about risk-reducing screenings and treatments for hereditary conditions. Table 1. Relevant Terms and Descriptions Term Description Precision Medicine Broad approach that considers various factors, including genes, environment, and lifestyle to tailor prevention and treatment Genomic Medicine Using genetic information, including genetic test results, to inform clinical care decisions Hereditary Condition A condition caused by inherited gene or chromosome variations. Examples include hereditary cancer syndromes like HBOC, Lynch Syndrome, and FAP Cascade Models Body of academic literature describing cumulative effects from interactions across systems, levels, and domains over time, applicable to larger systems and policies Cascade Testing Clinical genetics term for systematic identification of at-risk family members for a hereditary condition, starting with one affected individual and expanding to biological relatives. Variant A gene alteration that can be benign, pathogenic, or of unknown significance. May involve single nucleotides, or larger DNA segments. The term ‘variant’ is increasingly used in place of other terms, including ‘mutation’ or ‘polymorphism.’ Open in a new tab The use of genetic information in genomic medicine to personalize prevention and treatment for hereditary cancer has been widely lauded ( Hendricks-Sturrup and Lu 2019 ; Stoffel and Carethers 2020 ) and has been covered in the media ( Basu et al. 2021 ). Mutations (a.k.a. “variants”) in over 70 genes and several multiple-cancer syndromes (e.g., hereditary breast and ovarian cancer [HBOC] syndrome, Lynch syndrome, and polyposis syndromes) have been identified as clinically actionable ( Rajagopal, Nielsen, and Olopade 2019 ). However, a recent genetic screening of a random sample of Americans revealed that only 10% of participants with a high-risk genetic variant had prior knowledge of their risk from clinician-ordered testing ( Grzymski et al. 2020 ). Moreover, substantial racial, ethnic, geographic, and socioeconomic disparities persist in testing for, awareness of, and response to hereditary risks ( Hann et al. 2017 ; Williams et al. 2019 ; Garland et al. 2020 ). While disparities in genomic medicine mirror broader healthcare inequities ( Mrig 2021 ), including mistrust in technology and medical professionals, limited time for patient-clinician communication, and anxiety induced by potentially burdensome medical expenses ( Khoury et al. 2022 ), we argue that a more fundamental barrier impedes precision-driven health equity: the disjunction between the logics of “discovering” and “covering.” These disjunctions “cascade” across a sequence of choices, magnifying access problems and disparities. Cascade models have been featured in the social science and developmental biology literature over the past quarter century ( Cicchetti and Masten 2010 ; Scheier and Shigeto 2022 ). Here, we consider how individuals and families experience the disjuncture between the paradigms of precision medicine and insurance through multiple specific “zones of conflict.” We develop this case inductively by identifying patterns in the individual experiences of those subsequently identified as facing hereditary cancer risks. Based on 44 in-depth interviews with patients at risk for three multi-cancer syndromes (HBOC, Lynch, polyposis), we identify seven “zones of conflict” where insurance practices conflict with inherited health risk management and demonstrate how these conflicts cascade and magnify consequences for follow-up screening and risk management. The discussion section outlines some policy approaches that, if carefully deployed, could disrupt the cascades or, at a minimum, modify these disjunctions. These policy approaches will enhance the prospects for adequate and equitable genomic medicine. We acknowledge that these issues, along with our policy recommendations, are relevant to many barriers facing emerging novel medical diagnostics and interventions. But some key distinctions magnify the effects of genomic medicine. Distinctive Challenges of Translating Genomic Science into Clinical Practice The integration of genomic science into clinical medicine has shifted away from the traditional translational science arc. Unlike other areas of medical discovery, genomic medicine embodies a “new discovery model for disease research,” requiring constant adaptation to the rapid “pace of progress” in genomic science and continual “revalidation” of genetic markers and clinical prognostications emerging from earlier studies ( NRC 2011 ). This dynamic nature of genomic knowledge poses distinct challenges for insurance coverage and clinical practice guidelines, exacerbating the disconnect between discovery and coverage policies. The evolution of understanding hereditary cancer syndromes illustrates the complexity of translating genomic discoveries into clinical practice. The initial identification of high-risk genes, such as BRCA1/2 for hereditary breast and ovarian cancers (HBOC) and Lynch Syndrome genes for colorectal and endometrial cancers, provided clear signals for elevated risk and shaped preventive strategies. However, as genetic testing has become more comprehensive, risk calculations have become increasingly complex. Identifying additional moderate- and low-penetrance genes and recognizing environmental and physiological mediating factors has left risk assessment and management in flux ( Sokolova et al. 2023 ). The advent of multigene panel testing has further complicated the landscape of genomic medicine. While these panels include genes with strong evidence of clinical utility, they often incorporate genes with less established evidence. This complexity challenges the development of clear preventive and treatment recommendations, particularly for moderate- and low-penetrance variants ( Ballester 2021 ). The rise in multigene panel testing also resulted in an increasing rate of reported variants of uncertain significance (VUS). Variants are often classified as VUSs because of insufficient evidence to establish a connection between the variant and disease at the time of discovery. VUS rates are highest among non-European individuals because genomic data primarily comes from Europeans, which could exacerbate existing health disparities in underrepresented groups ( Chen et al. 2023 ). Uncertainty challenges both patients and clinicians, including the risk of misinterpreting results, increased anxiety, and difficulties in planning clinical management. These challenges highlight a key distinction in translational genomic research: although translational research is often seen as progressing linearly, advancements in genomic research unfold in non-linear, interdependent stages. Specifically, genomic information obtained from testing is continuously used to improve genomic databases that support ongoing research, which in turn drives the clinical implementation of genomic medicine. Some Implications of the Distinctive Attributes of Genomic Medicine The evolving nature of precision medicine and the integration of genetic testing into clinical practice present unique challenges for determining insurance coverage. Unlike other areas of clinical medicine, genetic endowments intersect with family history, which itself serves as a proxy measure for epigenetic factors, ranging from environmental exposures to behavioral legacies that cluster within families. This means clinical guidelines for hereditary conditions are more complex and difficult to apply to individual cases, generating difficulties for patients, clinicians, and insurers in developing stable understandings and clear expectations. This paper explores how these circumstances induce two distinct pathways for learning about and adapting to hereditary cancer risks. Patients whose journey to genomic medicine begins in primary care settings face substantial barriers. Many primary care physicians (PCPs) depend on outdated genetic testing guidelines, lack knowledge of insurance coding, and have limited experience in appealing coverage denials of genomic services. By contrast, patients with hereditary risks identified through tumor profiling are more rapidly connected with specialty clinics. Here, genetic counselors and clinic staff have the experience to navigate initial coverage denials and effectively advocate for follow-up counseling, screening, reanalysis, and retesting. Although transitioning from the primary care pathway to the specialty clinic pathway is possible, it often depends on patients’ inclination, self-efficacy, and available resources. To adequately understand how these processes unfold, it is essential to consider an extended timeline that begins with insurers’ initial determination of individuals’ medical needs and extends over time to influence downstream risks and the genetic legacies of entire families. To make sense of this sequencing, we draw upon meticulous qualitative analyses that explore how individuals and their families encounter genomic medicine, interact with insurance practices, learn about inherited risk, and respond to those threats. We analyze a set of extended interviews with people living with identified or suspected hereditary cancer risks, exploring the implications of their experiences. In so doing, we identify ways that the logic of discovery for genomic medicine poses seven “zones of conflict,” concerning insurers’ logic for coverage determinations. Methods Primary data was generated from 44 semi-structured, in-depth, qualitative interviews with individuals at elevated risk for hereditary cancer. Narrative data were collected as part of a broader initiative to document and disseminate diverse patient experiences in the United States, including making patient experiences freely accessible to the public ( https://www.healthexperiencesusa.org ). Interviews were video- and audio-recorded to develop web-based “modules” focusing on patients’ experiences with a particular health topic or condition. This approach follows the Database of Individual Patient Experiences (DIPEx) method, a systematic and rigorous qualitative approach to gathering, analyzing, and disseminating patient experiences. It is widely regarded as the “gold standard” for collecting and disseminating patient narrative data, emphasizing diverse perspectives on experiences within a healthcare system ( Ziebland and McPherson 2006 ; Ziebland, Grob, and Schlesinger 2020 ). This paper draws from data collected for two modules: “Cancer Risk that Runs in Families” and “Breast Cancer.” A panel of advisors, comprising clinicians, study participants, scholars, and representatives from advocacy groups, guided the study from recruitment through to data analysis. The University of Wisconsin-Madison Institutional Review Board (IRB) approved the study, which served as the IRB of record for researchers affiliated with Yale University School of Public Health. Recruitment and Sample Selection We employed maximum variation sampling to ensure a diverse range of patient experiences ( Corbin and Strauss 2014 ). The sample varied in age, gender, sexual identity, geographic location (urban/rural), and self-reported racial, ethnic, and social class categories. Participants were recruited from four US regions (West, Midwest, South, and East) through cancer genetic clinics at academic medical centers and community-based outreach. We selected participants living with hereditary cancer syndromes (primarily HBOC, Lynch, and Polyposis Syndromes), including both those with and without personal cancer diagnoses. Table 2 summarizes the key participant characteristics. Table 2. Summary of Key Characteristics of Study Participants No. of Interviewees U.S. Geographic Area Midwest 22 Northeast 12 South 5 West 5 Race Asian/Pacific Islander 1 Black or African American 7 Mixed Race 3 White 33 Gender Cis-Female 34 Cis-Male 10 Insurance Private 39 Public 5 Age 20-29 2 30-39 5 40-49 9 50-59 13 60-69 12 70+ 3 Education High School 4 Some College 5 Associate degree 3 Bachelor’s Degree 18 Master’s Degree 10 Doctoral Degree 4 Hereditary Syndrome/Diagnosis HBOC/Breast Cancer 24 Lynch 13 Polyposis 5 Other/Unknown 7 TOTAL 44 Open in a new tab The Interviews Interviews lasted 60 to 150 minutes. Potential participants received detailed study information before confirming eligibility and willingness to participate. Informed consent was obtained before each interview. Interviews began with an open invitation for participants to share their experiences living with a hereditary condition, diagnosed breast cancer of uncertain origin, or both conditions. Following modified grounded theory methods, the semi-structured interview guide evolved based on emerging themes ( Corbin and Strauss 1990 , 2014 ). As the study progressed, we incorporated additional probes to explore topics such as genetic uncertainty’s impact on clinician relationships and family responses to common versus rare mutations and associated syndromes. Data Analysis Research assistants professionally transcribed and checked the accuracy of the interviews. All authors reviewed transcripts to identify themes and develop a list of a priori codes based on a literature review. Subsequent phases of data analysis employed an abductive analytical process, combining thematic analysis with the tools of grounded theory to generate meaningful results ( Timmermans and Tavory 2012 ; Charmaz 2017 ). The first author conducted inductive coding, developing categories and subcategories through an open coding process. This abductive approach allowed continuous refinement between coding and theorization, with emergent themes informing additional coding categories. All co-authors reviewed the analysis to verify “theory-observation” congruence ( Corbin and Strauss 1990 ). While insurance coverage and financial costs were included in key interview themes, with a priori codes reflecting access to preventive and treatment services, the specific categories of impact identified in our findings emerged inductively from the interview data. Findings Factors Influencing Access to Initial Genetic Services: Counseling and Testing Our findings are organized to reflect key areas where participants’ experiences highlight the conflicts between aspirations for precision medicine and corresponding insurance practices, thereby generating barriers to testing and related health services. We first consider experiences with insurance affecting initial access to genetic testing (i.e., the first family member tested). Then, we analyze the factors that influence downstream health-related decisions and ongoing access to follow-up preventive and treatment interventions. This conceptual framework is summarized in figure 1A . Figure 1A. Open in a new tab Practices of health insurance and aspirations of precision medicine over the continuum of patients’ experiences with hereditary conditions. The Multiplicity and Inconsistency of Guidelines and Payers Make Coverage Unpredictable Participant experiences demonstrate how clinical practice guidelines help clinicians make informed recommendations about genetic testing and counseling for individuals at risk of hereditary conditions. As genomic medicine advances, these guidelines and recommendations are updated to reflect evolving science. Imogene’s experience exemplifies this evolution: “I talked to my doctors almost ten years ago, and they said, ‘Well, no, it’s not related …We can’t test you for that,’ … The new [testing] guidelines from NIH came out… And [scientists] found enough links for the Ashkenazi Jewish population, indicating they’re more likely to have a [BRCA] mutation, and I am an Ashkenazi Jew. That was enough that my doctors said, ‘OK, we’re going to test you.’” In Lauren’s case, updating guidelines can significantly impact patient care. When Lauren first asked her doctor about BRCA testing, he thought it was inappropriate due to her limited family cancer history. However, because Ashkenazi Jewish populations have a higher risk of BRCA variants, the United States Preventive Services Task Force (USPSTF) guidelines later recognized the importance of Ashkenazi Jewish heritage. Lauren inquired again, and her doctor agreed to refer her: “I decided to ask her again if she would put me in for genetics, and I decided to go test.” Participant experiences also illustrate how practice guidelines impact insurance coverage for testing and counseling, which we observed in discussions about clinician testing referrals. For instance, Gloria had a strong family history of cancer and wanted BRCA testing, but explained she had not been tested because “it’s more of an insurance question… I want to do [BRCA] testing, and [my doctor and I] talked about it, but he said, ‘I’m not sure insurance will cover it. They only cover it if they have to,’ and it was never brought up again.” Carolyn, diagnosed with breast cancer at 44, raised concerns about a genetic cause, especially since her mom also had the disease. Despite her doctor recommending genetic testing, her insurance denied coverage due to her family history not meeting coverage eligibility criteria. Ultimately, Carolyn forewent testing, explaining, “I didn’t have great insurance. I wasn’t sure if it would cover testing.” Like most cancer patients, Carolyn's cancer diagnosis meant she was already facing significant out-of-pocket costs for care, so any additional health-related expenses were viewed as unduly burdensome. Others shared how their clinicians’ testing recommendations faced insurance hurdles, either due to a lack of prior authorization or uncertain coverage. Deirdre’s oncologist referred her for testing, but noted her insurance hesitated to approve it due to her limited family history of cancer: “[Genetic testing] was recommended because of my age. I was 47 but didn’t have a family history of cancer; the only person in my family [diagnosed with cancer] was my aunt, and she was in her late 70s. My insurance asked many questions because they’re trying to decide if they would [cover] it.” Participants’ experiences highlight variability in clinician knowledge and the integration of genomic medicine in various specialty fields. Although guidelines from professional societies encompass recommendations for testing and counseling (e.g., National Comprehensive Cancer Network [NCCN], American College of Medical Genetics [ACMG], American Society for Clinical Oncology [ASCO], etc.), guidelines often present conflicting recommendations and are updated irregularly ( Campbell-Salome et al. 2021 ; Wong et al. 2022 ). This multiplicity and inconsistency in guidelines complicate clinicians’ ability to stay informed about essential screening and care recommendations for at-risk populations. Notably, discrepancies in clinical guidelines contribute to variations in payer coverage criteria ( Lin et al. 2022 ). The multiplicity of guideline recommendations was particularly relevant for participants seeking coverage for more extensive, multigene panel testing. Danita explained that her doctor ordered a more extensive multigene test, but her employer-based insurance would only cover the single-gene BRCA1/2 test: “Although I did have genetic testing, unfortunately, I didn’t have great insurance, and [my insurance] did not agree to do the full genetic testing panel. I had an inconclusive [result] that leaned towards not having BRCA, but they couldn’t be 100%.” Phaedra shared a similar story; she had a strong family history of cancer, explaining how her mom and “almost all my first cousins died of breast cancer.” Her clinician ordered a more extensive panel test, but her Medicaid insurance covered only a BRCA test: “I had the BRCA test, and it didn’t show anything for our family. Even with our family history, it didn’t show anything.” Multigene panel tests for hereditary conditions vary in the number of genes included, with some covering hundreds. Guidelines rarely specify which genes should be included for specific conditions, leading to inconsistent criteria across practice guidelines. Subsequently, payers often limit the number of genes eligible for reimbursement. For patients like Danita and Phaedra, if a clinician requests a panel that includes both variants with strong clinical evidence and those with weaker evidence, payers may label the test as “experimental” and subsequently deny coverage. Participant experiences show that when payers opt to reimburse tests covering fewer variants than those requested, patients often feel deprived of vital risk information, leading to ongoing anxiety about untested variants. Some participants explained how unclear insurance coverage for their tests or lengthy insurance negotiations regarding which variants would be covered caused confusion and uncertainty. For instance, when Brendon’s doctor ordered a gene panel, it wasn’t initially clear if his Medicaid insurance would authorize coverage: I didn’t finish the [genetic] test… the insurance said, “We’re not going to pay for experimental.” My insurance company wasn’t too happy because they felt the doctors were doing experimentation…they said, “You can’t do it unless you pay for it on your own,” and who knows how much it would cost…But I told [my doctors], “If insurance doesn’t approve it, then I can’t do it.” So, they approved it. But about a week later, I got another note from the insurance saying, “We’re not approving anymore.” …It confused me, but I just said - maybe it wasn’t meant to be. Brendon’s healthcare providers recommended genetic testing, but he skipped it due to insurance issues, leaving him uncertain about the genetic factors underpinning his condition. Mismatches Between Bill Coding and Coverage Protocols Induce Denials Interviewees frequently described how complex billing, coding, and reimbursement practices resulted in coverage denials, confusion, stress, and delays in accessing recommended genetic services. Hannah summarized this problem by explaining, “What’s gotten really complicated about it is diagnosis codes, procedure codes, and things on the insurance side.” For Hannah and many other participants, meeting guidelines and insurance coverage eligibility criteria for genetic services did not guarantee insurance reimbursement. ICD billing codes are used to justify the medical necessity of healthcare services, including genetic tests. ICD codes for genetic tests have undergone substantial changes over the past decade, exacerbating challenges, particularly for clinicians and staff responsible for medical billing and reimbursement. Again, Hannah explains how this impacts access: “From one year to the next, within the same insurance provider, I will have things processed completely differently.” Further, she must cope with complications when her coverage changes since “the insurers all have their own [way of using] codes.” Prior findings indicate that payers’ reliance on differing guidelines causes inconsistent coverage criteria. Consequently, when clinic billing specialists submit ICD codes that do not align with the payer’s reimbursement criteria, this often results in denials, as participant experiences indicate: “The problem is usually that it’s not coded correctly, and so some people get denied, and they have to go back …I’ve seen some people on the websites and the support pages, and they get denied. I think it’s because the doctors are coding it incorrectly” (Lauren). Tyler described several experiences with denials for testing because of incorrect coding for insurance reimbursement and the effort required to overcome these denials: “It took a little while to get through the insurance and get [the testing] paid for. It was $3000 or $4000… [The insurance company] needed as much information as possible: ‘Why did you need this testing done? And your family history? Are we going to pay for it or not, or did this guy just decide to do a bunch of testing?’” Resolving coding-related denials can significantly delay access to testing or care ( Kyle and Frakt 2021 ). Marlene explained, “I had insurance problems because of how [the test] was coded for insurance. [The reimbursement] indicated it was for dental reasons, and not due to cancer…so that conversation with insurance took three or four months.” Therefore, responding to coverage denials because of reimbursement coding issues is complex, often requiring participants’ active involvement to overturn the denial. Martin elucidated, “They’re incredibly daunting. Just figuring out all the different diagnosis codes and procedures, the combinations, and how it all goes together. Then, talking to somebody at the billing center and saying, ‘Hey, can you do this? We can try. Or we can’t. Or this is how it was coded.’ But that’s what we have to do.” Martin’s experience highlights the time and effort needed to address denials resulting from mismatches between coding and coverage policies. As the next section shows, such resources are not always available to those facing insurance issues. Appeals Require Patients’ and Providers’ Time and Effort and May Fail Patients are typically the party notified about an insurance denial; we heard how this positions them as intermediaries between insurers and clinicians – mediating communication, advocating for expanded coverage, or trying to catalyze clinicians to advocate on their behalf. Hannah detailed this role: “It’s this constant game where I’m the middleman between my insurance provider and all the different doctors’ offices because it’s not just one. It’s working with multiple doctors’ offices.” Hannah and other participants took on active advocacy roles, negotiating for insurance coverage for genetic testing, particularly for hereditary syndromes where evidence regarding the medical necessity of testing remained inconclusive. As Tyler put it, “When I finally got [the testing] done, and again the insurance fought it, but we were able to get it paid for - because it’s not a cheap test to find out if you have [the gene], but in the long run, it saved my life because I probably would have waited three or five years and by then, who knows what could have happened. I had to push and say, ‘Hey, I have this Lynch syndrome.’” Several participants described in detail the time- and resource-intensive process of appealing insurance denials for testing, including Marlene: “It took a lot of conversations [with our insurance], and again advocating for ourselves, to fight what we needed to fight for…to fight over whether something was going to be covered or not.” However, only those with sufficient knowledge and resources felt equipped to respond and navigate these challenges. Patricia noted, “I’m more apt to stand up for myself… I’m more apt not to take what they give me as the answers… [if] they say I could be responsible for part of this bill, I’m like, ‘No, I’m not paying it.’ I’m more apt to push back now.” For those unable to self-advocate, clinician intervention was sometimes needed. For example, when Leona expressed concern about paying for a genetic test, her clinician wrote a letter to the payer explaining why the test was medically necessary: “When the BRCA gene test came out… [my doctor] said, ‘I’ll just write a letter to your insurance…’ And they approved the genetic testing. So, I was very fortunate… it was a matter of having a doctor with foresight, and then [the insurance] stepping up to cover it.” However, few participants reported requesting this type of clinician advocacy. Instead, their experiences suggest that academic medical centers and specialty care settings are more likely to have resources to address insurance-related challenges effectively. Referrals to Genetic Specialists Occur Late, Impeding Responses to Risk Our interviews highlight that access to genomic medicine typically relies on determining an individual’s risk for a hereditary condition, which requires providers to understand genomic risk factors. However, this expertise varies significantly across clinical settings, particularly primary care and specialist environments (e.g., academic medical centers, hereditary cancer clinics). PCPs’ limited knowledge of hereditary cancer syndromes often impedes access to genetic testing and counseling ( Schaibley et al. 2022 ). Jaydon’s experience illustrates this: “I don’t remember any conversations about health histories with my PCP…or that [hereditary cancer] came up at all… I don’t remember speaking about this until my niece made sure that her dying father got [genetic testing] for her interest, and she told the rest of us we should [get tested].” Some PCPs recognize their limitations and refer patients to specialists promptly. Hannah’s PCP told her, “I’m aware of Lynch, but I’m no expert… I will help you. I will send any referrals you need to make this happen”. Participants most often sought specialists when they felt their clinician lacked expertise. Sheila emphasized, “Once you find out you’re at high risk for cancer…find a medical provider who is informed enough about your condition to be able to treat you and recommend treatment is important.” Delayed referrals to specialists can have significant consequences, as exemplified by Marlene’s story. She had multiple chronic health issues and was diagnosed with her first of several cancers at age 41. Her primary care providers initially dismissed her family members’ history of cancer as not relevant. Sixteen years after her first cancer diagnosis, she was finally referred for testing during a genetic counseling appointment for her mother: “My mother and I contacted [INSTITUTION] about genetic counseling, and I went with her; she went through the full genetic testing, and [the counselor] said my mother had the MSH6 syndrome of Lynch syndrome. Then she recommended that I get tested… and I wasn’t surprised at all that I also had Lynch Syndrome.” Many participants noted that genetic testing referrals occurred only after long delays, often after they had exhausted other diagnostic options. May explained that her PCP did not immediately consider a hereditary condition, which delayed access to testing: They kept testing me for simple things that everybody else gets and kept coming back, [saying], “Nothing’s wrong.” At one point, the doctor said, “We’re going to send you to [a genomic medicine clinic], and they can do more testing and offer more options.” … I did that for a few months until one time, they said, “We’re going to test you for rare genetic things.” About two or three days later, they called me and said, “You tested positive for [familial adenomatous polyposis].” Patients initially seen by specialists or at academic centers were more likely to have genetic testing integrated into their care earlier than those seen primarily in PCP settings. For instance, Rory had a strong family history of cancer and was advised to undergo testing immediately after being diagnosed with breast cancer. In contrast, Carolyn, who also had a notable family history of cancer, had her genetic factors evaluated only after her second cancer diagnosis before turning 50: “My first diagnosis of breast cancer came in 2009. I was 44… then at 49, I was diagnosed with my second primary cancer. I had colon cancer. At this point, I met with an oncologist, and we started thinking there must be something going on…we decided to do some genetic testing, and we found out I have Lynch syndrome.” Overall, specialists identified genetic cancer predispositions faster than primary care providers, yet most participants met specialists only post-diagnosis. Insurance barriers complicated access to genetic risk assessments, causing participants to learn about their cancer risks too late and miss regular screenings that could have led to earlier detection. They also lost opportunities to explore preventive treatments that might have reduced cancer development. Downstream Responses to Initial Testing: Risk Awareness and Management Failure to Communicate Family Risk Inhibits Cascade Testing Participants widely recognized the implications of genetic mutations for their family members’ health. Many engaged in family discussions about shared risks and emerging medical information. Carmen noted, “[In our family] we have frequent conversations. It’s almost like ‘how’s the weather’ in our family… You’ve got to support each other…” Information exchange was facilitated when all parties, including insurers, recognized the benefits of testing and preventive care for at-risk family members. Patricia explained, “After I tested positive, [my sister] did the genetic testing and tested positive for a BRCA1 mutation, and her insurance company started paying for mammograms at age 35, so she’s already been getting them for the last couple of years.” However, various barriers can disrupt cascade testing for family members, including inadequate clinician communication and issues with insurance coverage. Jenny’s experience illustrates the former: “No one [in my family] has gotten tested… [my doctor] just recommended I mention [my results] to other family members… but I don’t recall them recommending testing.” However, Patricia’s aunt faced insurance barriers: “My aunt did genetic testing and tested positive, but that was only after she was in remission. She didn’t have it right away because the insurance wouldn’t pay for it.” Some participants found creative solutions to help family members overcome these financial and insurance barriers by finding alternative, lower-cost testing options. Anaya explained: My older siblings and their children have done the genetic testing, and they feel better about knowing their risk for certain things, but it was difficult [to do] … I said you don’t even have to go through the hospital. There’s a laboratory that is so much cheaper. I used the “it’s not expensive tactic” because everybody thinks, “What if I get this genetic testing and my insurance doesn’t cover it?” Because most of the time, insurance doesn’t cover these things, but they are affordable, so you should consider doing it. Individuals with less experience navigating insurance often hesitate to recommend testing to family members, fearing potential financial burdens. Serena expressed this concern: “My cousins thought they didn’t want to do these tests because it might cost something, and I know that my nephew… is very reluctant to have a test because they are on a tight budget. [Cost is] a deterrent for people getting Lynch syndrome testing because they don’t know how it will affect their medical costs or their medical insurability in the future.” Participant experiences highlight the value of genetic counseling and cascade testing for families, underscoring the need for all individuals at risk to have access to these services. However, insurance generally only covers the primary beneficiary, leaving it to the tested individual to help family members pursue follow-up testing and care. No Guidelines Address Reevaluation or Retesting, Impeding Insurance Coverage Patients at risk for hereditary conditions but without a confirmed genetic cause may require updated testing or reinterpretation of genetic results as genomic knowledge evolves. Participants, especially those supervised by hereditary cancer specialists, discussed this need, including Serena: “Ten or 12 years ago, I was told I had a variant [of unknown significance], but they would probably end up classifying as Lynch syndrome… it is a growing area of research and the number of mutations being found and classified as Lynch syndrome has grown.” Martin also explained the dynamic nature of genetic knowledge: “Different things come up, right? The protocols change; they’re not static. The more we learn, the more we figure out, ‘Hey, that’s not important, but this thing over here, we need to do that now.’” Similarly, Joan shared, “I keep going to a specialist in Lynch syndrome every couple of years to see if there’s anything new on the forefront, new discoveries… So, it’s a work in progress.” This process of extended learning, reconsideration, and reclassification was frequently heard from people carrying more recently discovered gene variants associated with hereditary conditions (e.g., HBOC genes other than BRCA1/2 ), including Georgia: “They found a gene in common [in my family] called PALB2 . They described it as [a gene] that ‘pals around’ with BRCA2 … at the time, it was a finding of unknown significance. A year later, they said, ‘This is a finding of no known significance…’ Three of seven women in my immediate family have the [ PALB2 ], and we don’t know what that means or what to make of it.” Georgia’s care was overseen by a geneticist, highlighting how academic medical centers offer more accessible access to variant reclassification and retesting. While people receiving care outside these facilities acknowledge the advantages of updated testing, they are reluctant due to insurance complications. For instance, Danita’s inconclusive BRCA testing led her to avoid a broader multigene test after her insurance denied it, feeling it required more commitment than she was ready to give: “It is something that I do think about… that I will revisit that in the future.” Many individuals lacking a clear genetic reason for their condition continued seeking retesting, although insurance frequently denied reimbursement for these tests. Some, such as Shawn, who has polyposis syndrome, chose to pay out of pocket: “They find new genes all the time… they’ll call me up and say, ‘Hey, do you want us to rerun your [sample] to rule this out?’ I always say, ‘Yes’…Because the genes they’ve found since [my initial testing] could be linked to polyps… But I had to pay out of pocket for the last [test], it wasn’t covered by insurance.” Shawn’s ability to pay out of pocket is an outlier. Many people struggle to afford additional testing without insurance, especially with a cancer diagnosis and high out-of-pocket costs. The lack of guidelines for reinterpretation and retesting means insurance coverage is unlikely to improve. Insurance Enrollment Turnover and Guideline Gaps Inhibit Follow-on Screening Participant experiences highlight that clinical guidelines often lack details for follow-up care for high-risk individuals, particularly for newly identified pathogenic genes with limited evidence. Martin noted that guidelines are “not always in alignment” with one another, leaving considerable uncertainty about medically necessary risk-reducing measures. Sheila elaborated: “We haven’t figured out exactly how often somebody needs to get screened to prevent these different cancers from forming. You need to consider the guidelines but add a bit of balance based on your situation, how you feel about yourself, and your lifestyle.” Lack of clear guidelines for managing hereditary conditions means that patients are reliant on their physicians’ expertise for ongoing screening and follow-up. Without access to retesting and additional testing, those with VUS or ambiguous genetic conditions are at risk of coverage denials. Paul’s experience illustrates the challenges people face when seeking coverage for preventive services: “Having something done prophylactically can be a problem for an insurance company. ‘Why are you having your stomach removed? You’re not having, you know, you don’t have cancer?’” Moreover, the unpredictability of insurance coverage for risk-reducing surveillance often exposes individuals to substantial out-of-pocket expenses. Hannah shared her situation: I’m just waiting for the bill that I know is going to come because [my doctor] wanted me to do [an MRI of the stomach] every year, and I’m sure insurance is going to have a heyday. But, when my gastroenterologist makes a recommendation about my care, I’m going to follow it… For the insurance providers, the MRI is medically unnecessary… There are no symptoms… But the whole point is to avoid developing symptoms… to stay in front of symptoms. Again, although Hannah could afford to pay for annual MRIs out-of-pocket, many patients cannot. The ACA mandates insurance coverage for services with USPSTF “A” or “B” recommendations, but the lack of updated and consistent USPSTF and clinical guidelines results in coverage gaps, which increase patients’ out-of-pocket expenses. Individuals like Mark tackle the financial obstacles associated with insurance by adjusting their budgets to include these costs as a regular “living expense.” He acknowledges, “I expect to spend a few thousand dollars annually on scopes; it’s simply part of my budget.” But many cannot afford this approach. Becky pointed out, “You can’t ignore the financial side - it’s expensive, and if those screenings aren’t free and people can’t afford them, they won’t do them.” Overall, many participants expressed frustration over their repeated attempts to obtain insurance coverage for what they regarded as essential preventive care. May, previously diagnosed with cancer and aware of her heightened risk due to a FAP-associated pathogenic variant, articulated her desire for broader insurance coverage, stating, “I wish my insurance would offer more because sometimes I believe there are more things out there or different places maybe I can go that offer more things.” The issue of inadequate coverage was particularly common among interviewees with insurance through the ACA Marketplace. While the ACA increased coverage affordability for many Americans, it often fails to provide enough protection for those at higher risk for hereditary cancer, particularly in terms of preventive screenings. As a BRCA1 carrier, Bonnie expressed her concern: “I’m hired as a temporary employee and have health insurance through the ACA through Obamacare – a preventative health plan. That covers your yearly physical and PAP smear, but it doesn’t include pelvic ultrasounds or CA 125 [testing], and I don’t know if it would cover the dermatologist. That’s terrifying for me right now. I really don’t like that.” Insurance turnover, or “churn,” a unique phenomenon in the US multipayer system, further exacerbates these challenges. Leilani shared how “changing insurance companies is not fun. I had to postpone my recent exam because I lost my job in January.” Changing insurers can disrupt continuity of care, as Terrence’s experience illustrates: “I didn’t see doctors for a whole year because I switched my medical insurance, and I lost the whole cancer team for a year. When I did get another team, they pulled out [another] six polyps within a year.” These disruptions in care continuity generate ongoing anxiety and stress for people managing hereditary conditions. Gloria expressed: “Dr. [NAME] told me she would recommend a treatment protocol to follow, but I won’t be able to go to the current clinic now. There’s a nervous edge on me because I felt so comfortable with my doctor and what we were doing, knowing I was being watched closely.” Experiences from participants demonstrate that inadequate coverage translates to insufficient care, hindering effective management of heightened risks. The ambiguity regarding coverage may reduce individuals’ capacity to manage their elevated hereditary risks, potentially dampening their initial enthusiasm for seeking genetic testing. Discussion Our analysis reveals seven distinct conflicts between US insurance practices and precision medicine aspirations ( figure 1B ). These conflicts restrict access to initial genetic testing and counseling for those with elevated familial cancer risks and curtail downstream benefits of enhanced risk awareness for pathogenic variant carriers. While some of these conflicts have been previously documented ( NAM 2023 ), their cumulative impact remains largely overlooked, with implications that we explore further below. Figure 1B. Open in a new tab Zones of conflict between paradigms of health insurance and precision medicine emerge throughout patients’ experience with hereditary conditions. Generalizing from our primary interview-based data, here we consider (a) the prevalence of identified zones of conflicts and gaps in measuring their frequency, (b) insights from literature on cascade modeling for understanding cumulative impacts, and (c) potential policy interventions to mitigate conflicts or moderate cumulative consequences. Generalizing from Individual Interviews to System-Wide Impact While our intensive interviews provide insights into how genetic counseling and testing conflict with insurance coverage practices, small samples cannot reliably estimate the frequency with which these paradigmatic conflicts impact patients. Yet, the literature suggests some conflicts have widespread effects. Evidence on the Prevalence of Conflicts Two examples illustrate the broad impact of identified zones of conflict. The first involves the importance of family health history: For decades, insurance, clinical practice, and USPSTF guidelines have relied on family health history in decisions regarding hereditary cancer testing ( Owens et al. 2019 ). However, fewer than 20% of patients testing positive for a pathogenic variant after a cancer diagnosis have documented family histories that suggest a higher risk of cancer ( Grzymski et al. 2020 ). Incomplete histories are most common among ethnic and racial minority communities, mainly due to their historically limited access to medical and specialized cancer care ( Bradshaw et al. 2024 ). A second example illustrates the impact of guidelines failing to address retesting or additional testing. In a study of patients already tested for hereditary cancer, 17.3% of participants had a new pathogenic or likely pathogenic variant identified in subsequent tests ( Dettwyler et al. 2021 ). This highlights the importance of reevaluation or additional testing for individuals without a clear genomic explanation for their family’s condition ( Dal Buono et al. 2023 ). Gaps in Evidence Regarding the Magnitude and Prevalence of Conflicts Prevalence data is lacking for many zones of conflict. For example, our interviews reveal that patients and providers often spend considerable time appealing denials for genomic services, which is consistent with findings from previous studies ( Mrig 2021 ). However, little information exists on the number of appeals for testing denials, their success rates, or how benefits vary among patients with different backgrounds or with varying levels of health literacy. Information on rates of initial denials and coverage appeals is increasingly available; however, these sources lack the detail necessary to identify genetic testing ( Pollitz et al. 2023 ). Similarly, surveys document how frequently American patients rely on physicians to resolve coverage denials ( Pollitz et al. 2023 ); yet data on clinician advocacy for genetic testing are also lacking. Physician advocacy is likely insufficient, as two-thirds of US genetic counselors reported helping patients with coverage issues despite feeling untrained for this role ( Brown et al. 2018 ). Notable gaps also exist in evidence of the consequences of limited access to genetic testing. For example, while US statistics on cascade testing for hereditary cancer risks are lacking, anecdotal evidence and local studies indicate it is less widespread in the United States compared to countries with universal healthcare that reduces financial barriers to cascade testing ( Srinivasan et al. 2020 ; Frey et al. 2022 ). While reliable prevalence data are lacking, some significant impacts can be inferred. A clear example is the documented disparity in guideline usage between PCPs and specialists. PCPs tend to rely more on USPSTF guidelines, while specialists follow their professional society’s guidelines ( Nachtigal et al. 2020 ; Sorscher 2023 ), and the contrast between these guidelines is striking. The most recent 2019 USPSTF guidelines on BRCA-related cancer only recommend single-gene testing for high-risk populations, omitting advice on repeat testing or ongoing surveillance for those with pathogenic variants ( Rajagopal, Nielsen, and Olopade 2019 ). Furthermore, the USPSTF has not published guidelines for other hereditary conditions, such as Lynch Syndrome, despite its similar risk profile to BRCA-related cancers ( FORCE 2023 ). On the other hand, guidelines from oncology and genomic professional societies (e.g., NCCN, ACMG) are generally more comprehensive and frequently updated, aligning closer with recent scientific findings ( Petrone 2022 ). However, even these guidelines have gaps, often overlooking the need for reanalysis in cases of inconclusive genetic results. An ACMG commentary notes, “Coverage and reimbursement policies that support reanalysis are essential. There are currently no professional guidelines for frequency of reanalysis” ( Bean et al. 2021 , pp. 985-6). These guideline discrepancies significantly contribute to the conflicts identified here, particularly regarding the appropriate use of genetic testing and follow-up care across healthcare settings. Again, these challenges are further compounded by insurance churn, since guidelines adopted by the new insurer may differ from those of the previous insurer; consequently, when consumers switch plans, they must learn new guidelines and administrative protocols. Better Understanding the Cumulative Impact of “Zones of Conflict” At the turn of the century, researchers across various fields began to explore “cascade models,” revealing how people’s actions, perceptions, and stated norms could initiate self-reinforcing processes that amplify their collective effect ( Kuran and Sunstein 1998 ; Hung and Plott 2001 ; Fowler and Christakis 2010 ). Cascade model applications in health policy are rare, with a notable exception being a WHO report on HIV policy strategies ( Stannah et al. 2019 ). However, figure 1B illustrates how the sequence of conflicts related to initial testing disparities leads to more significant cumulative inequities in the downstream management of hereditary cancer risks. Even if each conflict only slightly hinders access to the advantages of genetic knowledge, the overall effect of these cumulative barriers can be surprisingly substantial. A simple calculation illustrates this: Assuming disadvantaged households experience a 5% reduction in benefit probability for each zone of conflict, aggregated across all seven zones, these individuals would have only a 70% probability of achieving the downstream benefits of genomic medicine compared to individuals from advantaged households. Two examples stand out. First, patient and clinician advocacy is vital for appealing insurance denials of genetic testing. When patients cannot advocate for themselves or motivate their clinicians, they reduce their chances of coverage for initial testing and preventive interventions (especially given the gaps in guidelines). This issue is especially relevant for racial and ethnic minorities and underserved patients, which we elaborate on in the next section. A second example of the substantial cascading effects involves the downstream consequences of conflicts that impede access to risk-reducing interventions for people with pathogenic variants. If individuals feel less capable of managing (or at least influencing) their own elevated cancer risk, their motivation to inform their family about potentially inherited risks diminishes, reducing the benefits from access to testing and interventions for their families. Cascade Effects in the Context of Market-based Insurance Insurance markets inherently involve complex incentives, market failures, and tensions between efficiency and equity ( Conley 2019 ). While some conflicts illustrated in figure 1B are common to all market-based health insurance, particularly those stemming from rapidly evolving genomic science, many conflicts are amplified in the US system of commodified health insurance, where consumers and employers choose among private insurers. As of 2023, the United States had 1,160 health insurance payers operating, with most Americans under the age of 65 insured through employer-based policies (58%), and another 15% purchasing coverage directly from a payer ( Hanson et al. 2023 ). Even in public programs like Medicare or Medicaid, over half of beneficiaries are enrolled in a private plan that contracts with public coverage ( Frank and McGuire 2019 ). This payer diversity creates challenges – the average physician treats patients covered by a dozen payers ( Schlesinger et al. 2005 ), making it difficult to track each plan’s changing protocols for genomic services. Practices typically devote over 20 hours of clinician time to prior authorization paperwork each week per clinician ( Lin et al. 2022 ; Chino et al. 2023 ). Administrative burden is often displaced onto patients, resulting in delayed or foregone care ( Kyle and Frakt 2021 ). The multitude of payers and plans also increases the likelihood of a patient being disenrolled from any given plan. Private insurance markets see annual turnover rates of 25-30%, primarily due to job changes or employer switches rather than consumer choice ( Herring 2010 ; Fang et al. 2022 ). This churn makes patients and clinicians repeatedly adapt to new benefits and authorization protocols. It also disincentivizes payers from covering risk-reducing screening for hereditary risk, since the financial benefits of prophylactic surgery or other interventions to reduce risk often accrue to subsequent insurers. ( Herring 2010 ; Fang and Gavazza 2011 ). These dynamics can cascade into further unintended consequences. For instance, individuals with limited coverage for risk-reducing care may be less inclined to pursue genetic testing, potentially leaving them unaware of hereditary risks. This, in turn, can reduce communication about inherited risk within families, perpetuating a cycle of limited genetic testing and risk awareness. Conversely, when consumers struggle with coverage uncertainty or delays, these experiences may be communicated to family members, making them less willing to attempt to get their genetic testing or counseling covered ( Schlesinger and Bhaumik 2025 ). Cascade Effects and Racial/Ethnic Disparities in Precision Medicine Among the most concerning consequences of these cascading insurance-related barriers is their potential to erode genomic medicine’s promise of reducing long-standing racial and ethnic disparities in cancer care outcomes. Evidence suggests that coverage barriers disproportionately impact racial and ethnic minority populations across most zones of conflict: Racial and ethnic minorities are more likely to access genetic testing and risk-reducing care through PCP settings where family health histories are often less complete ( Hann et al. 2017 ; Garland et al. 2020 ) and clinicians are less willing to advocate for guideline exceptions. Incomplete or outdated professional guidelines have a disproportionate impact on minority and underserved populations. A recent study found that among African American women with breast cancer who did not meet NCCN testing guidelines, nearly 5% had pathogenic variants associated with breast cancer ( Ademuyiwa et al. 2019 ; Yap et al. 2022 ). Racial/ethnic minorities are less likely to seek and obtain support from clinicians related to insurance coverage disputes ( Hendren et al. 2011 ). Compared to white non-Hispanic families, racial and ethnic minority families have more limited communication about hereditary risks ( Williams et al. 2019 ), which our data suggests may reflect their own past struggles with coverage issues. Racial and ethnic minorities with employer-sponsored insurance coverage often experience unstable employment and frequent insurance turnover ( Brown et al. 2021 ; Khoury et al. 2022 ), necessitating the frequent relearning of coverage provisions relevant to genomic medicine. Since these disparities accumulate across the seven conflict zones, the resulting health inequities in genomic medicine are likely to be significant, even if the disparities in each individual area are relatively small. Policy Responses to Institutional Disjunctions The fragmentation and instability of insurance enrollment in the United States exacerbate the institutional conflicts identified in figure 1B . Single-payer national health insurance (NHI) could mitigate many of these issues by internalizing the benefits of comprehensive risk reduction and cascade testing while simplifying the authorization process ( Stark et al. 2019 ). Given this, it is perhaps unsurprising that many American proponents of precision medicine cite the UK’s progress as an aspirational model ( NAM 2023 ). However, single-payer proposals face significant political hurdles due to the United States’ long-standing reliance on employer-based insurance ( Frakt and Oberlander 2020 ). Therefore, we propose three more incremental approaches to reform: Guideline Harmonization : Establishing a comprehensive, unified set of guidelines could reduce learning curves and address gaps in existing recommendations, such as reducing access disparities across healthcare settings and improving retesting and screening practices. Despite challenges in national coordination in the United States ( Gerberich, Spencer, and Ipema 2019 ), voluntary harmonization strategies, such as those led by the ACMG, ClinGen, and AMP, show promise ( Petrone 2022 ). Extending Coverage Mandates : State mandates improve access to some genomic services ( Drake, Busch, and Golberstein 2019 ; Preston et al. 2021 ), but the rapid evolution of genomic science requires federal action. Expanding the USPSTF’s role can help address inequities in coverage for testing and risk-reducing care for hereditary cancer syndromes ( Rajagopal, Nielsen, and Olopade, 2019 ). However, it is essential to note that state mandates do not apply to self-funded plans due to ERISA preemption, and ERISA plans comprise a significant and growing portion of employer-sponsored insurance ( Hanson et al. 2023 ). Enhancing Coverage Advocacy : Promoting widespread access to advocates can have a multiplicative impact on addressing coverage disputes. The ACA included funding for state-level advocacy to help individuals with insurance navigate their coverage and advocate for consumers. These programs offer critical one-on-one assistance to consumers facing insurance issues and can serve as early warning systems for coverage and access problems; however, implementation has been uneven ( Grob et al. 2013 ). Expanding existing infrastructure to support genetic testing appeals could bridge this gap ( Schlesinger, Mitchell, and Elbel 2003 ). Methodological Limitations and Questions for Future Research We must consider our analytical findings and suggested policy responses in the context of certain methodological limitations. First, our focus on people’s experience with several different hereditary cancer conditions yielded relatively modest sample sizes for each unique syndrome, limiting our ability to assess whether disparities within syndromes might differ. Second, given these syndromes involving multiple organ systems, they may have amplified associated anxieties for participants, particularly for hard-to-screen cancers like pancreatic cancer. It is unclear whether differences in how people perceive their risk for different cancers would have magnified or suppressed the impact of institutional conflicts. Third, while we are confident in our characterization of coverage-related advocacy variation, our predictions about introducing third-party advocates are speculative, as only a subset of Americans have utilized this support. Research is needed to determine whether third-party advocates can improve access to genetic testing and counseling. This depends on whether disadvantaged patients and families are willing to seek additional advocacy and trust these advocates sufficiently to act effectively. Fourth, declining genetic testing costs, particularly those associated with next-generation sequencing, may influence payers’ coverage decisions. This could spur demand for genetic counseling and result interpretation, often best provided by academic medical centers and cancer clinics ( Srinivasan et al. 2020 ; Doherty, Thom, and Gany 2021 ). However, the shortage of genetic counselors in primary care settings limits implementation ( Dusic et al. 2022 ), and the costs of such interactions will soon become a focus of coverage, although they remain under-researched. Finally, we identified significant research gaps regarding the prevalence of coverage-related disparities and their cumulative impact on the benefits acquired from genomic medicine. Yet, better documentation of the relative effect of each barrier would help set policy intervention priorities. Conclusion Genomic medicine has improved care for some patients, yet individuals with hereditary cancer risk indicate that the benefits have not always aligned with precision medicine advocates’ predictions. Their experiences highlight the “imprecision” of “precision medicine.” The growth of genomic knowledge within the fragmented American health care system creates an uneven playing field, likely exacerbating disparities for minority, rural, economically disadvantaged, and less trusting populations. Those are not the legacies that precision medicine proponents aspire to create, nor are they inevitable consequences of evolving science clashing with prevailing insurance practices. While tensions are unavoidable under current US institutional arrangements, their impacts can be mitigated by promoting understanding among policymakers and professional leaders about the potential for interventions to moderate these inequities. A portfolio of potential interventions, both incremental and transformative, can address identified barriers and disparities. Implementing these requires commitment and courage from changemakers in policy and healthcare settings. Supplementary Material Appendix_Mrig et all JHPPL Hereditary Cancer Risk 2025 NIHMS2130862-supplement-Appendix_Mrig_et_all_JHPPL_Hereditary_Cancer_Risk_2025.pdf (194.9KB, pdf) Acknowledgements The authors would like to thank the individuals who participated in this study for sharing their time and providing invaluable insights and experiences. This work was supported by grants K01-HG013687 and R01-HG011792 from the National Human Genome Research Institute (NHGRI), National Institutes of Health (NIH). Biographies Emily Hammad Mrig is an Assistant Professor in the Department of Clinical Pharmacy and at the Center for Translational and Policy Research on Precision Medicine (TRANSPERS) at the University of California, San Francisco. An interdisciplinary scholar with training in public health, health policy, and social science, she investigates differences in healthcare access, particularly in precision medicine, cancer, and undiagnosed conditions. Current projects include examining cost barriers to molecular diagnostics and targeted therapies for cancer patients, utilizing innovative mixed-methods approaches, such as AI analysis of electronic health record (EHR) data, to establish evidence for fair adoption of precision medicine technologies. Mark Schlesinger is Professor of Health Policy and a fellow of the Institution for Social and Policy Studies at Yale University, as well as past editor of the Journal of Health Policy, Politics and Law . Dr. Schlesinger’s research explores the development of rigorous methods for eliciting patient narratives to improve health system performance, promote provider well-being, and increase equity of health outcomes, understanding the determinants of public opinion about health and social policy, and assessing the influence of bounded rationality on medical consumers. His favored sports include uncompetitive volleyball and unlighted table tennis. Mark. Schlesinger@yale.edu Jennifer M. Weiss is a Professor of Gastroenterology and Hepatology at the University of Wisconsin School of Medicine and Public Health (UWSMPH) and Director of the UW Gastrointestinal Genetics Clinic. She has a Master’s degree in Population Health Sciences from UWSMPH and completed post-doctoral training in health services research and healthcare quality improvement. Her clinical and research program focuses on improving colorectal cancer screening for both average-risk and high-risk populations. On the national level, Dr. Weiss serves on multiple National Comprehensive Cancer Network guideline committees, including serving as the Vice-Chair of the Genetic/Familial High-Risk Assessment: Colorectal, Endometrial, and Gastric Guidelines. Nancy Pandhi is Associate Chair and Professor in the Department of Family and Community Medicine at the University of New Mexico (UNM). She is Director of the UNM Clinical and Translational Science Center. Her research program aims to improve the delivery of ambulatory care through participant-centered engagement approaches implemented at the individual, team, and organizational levels. She is a founding member of the Health Experiences Research Network, its national training director and serves on the steering committee. Katherine Clegg Smith is a Professor in the Department of Health, Behavior and Society at the Johns Hopkins Bloomberg School of Public Health, where she also directs the Center for Qualitative Studies in Health and Medicine. Professor Smith chairs the Qualitative Research Committee of the Health Experiences Research Network. Trained as a sociologist, her expertise is in the contribution of social factors in shaping critical health outcomes. Her work extends beyond a single health issue to the structural and individual factors that influence the health risks that people face, and the adequacy of the institutional responses to health-related experiences. Nora Jacobson was, until recently, the qualitative methodologist at the Institute for Clinical and Translational Research at the University of Wisconsin-Madison, and a scientist at the university’s School of Nursing. She uses qualitative, mixed, and community-based methods to study the design and delivery of health services. Rachel Grob directs the Qualitative and Health Experiences Research Lab at the University of Wisconsin-Madison. Her work focuses on improving health by listening to people’s experiences with health and health care, synthesizing their narratives, and using this powerful learning as a source for making changes that benefit consumers, families, clinicians, and communities. Grob serves as a public spokesperson for the value of qualitative research. She chairs the global health experiences organization DIPEx International , is chair emeritus of the US-based Health Experiences Research Network , and is the author of over 60 peer-reviewed articles, numerous book chapters, and a book. Contributor Information Emily Hammad Mrig, University of California, San Francisco. Mark Schlesinger, Yale University. Jennifer M. Weiss, University of Wisconsin-Madison Nancy Pandhi, University of New Mexico. Katherine Clegg Smith, Johns Hopkins University. Nora Jacobson, University of Wisconsin-Madison. Rachel Grob, University of Wisconsin-Madison. 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