Laboratory-related outcomes from integrating an accessible delivery model for hereditary cancer risk assessment and genetic testing in populations with barriers to access

The objective of this study was to identify interpretation challenges specific to exome sequencing and errors of potential clinical significance in the context of genetic counseling for adults at risk for a hereditary cancer syndrome. Thirty transcripts of interpreter‐mediated telephone results disclosure genetic counseling appointments were coded for errors by bilingual researchers, and the coders applied an overall rating to denote the degree to which the errors interfered with communication overall. Genetic counselors reviewed a subset of errors flagged for potential clinical significance to identify those likely to have clinical impact. Qualitative interviews with 19 interpreters were analyzed to elucidate the challenges they face in interpreting for genetic counseling appointments. Our analysis identified common interpretation errors such as raising the register, omissions, and additions. Further, we found errors specific to genetic counseling concepts and content that appeared to impact the ability of the genetic counselor to accurately assess risk. These errors also may have impacted the patient's ability to understand their results, access appropriate follow‐up care, and communicate with family members. Among interpreters' strengths was the use of requests for clarification; in fact, even more use of clarification would have been beneficial in these encounters. Qualitative interviews surfaced challenges stemming from the structure of interpreter work, such as switching from medical and nonmedical interpretations without substantial breaks. Importantly, while errors were frequent, most did not impede communication overall, and most were not likely to impact clinical care. Nevertheless, potentially clinically impactful errors in communication of genetics concepts may contribute to inequitable care for limited English proficient patients and suggest that additional training in genetics and specialization in healthcare may be warranted. In addition, training for genetic counselors and guidance for patients in working effectively with interpreters could enhance interpreters' transmission of complex genetic concepts.

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“… c Additional findings included 77 noncancer, medically actionable secondary finding genes (Amendola et al, 2022). …”

Section: Resultsmentioning

confidence: 99%

“…The measures for health literacy, housing insecurity, and food insecurity are explained and cited in the CHARM protocol paper (Mittendorf et al, 2021). c Additional findings included 77 noncancer, medically actionable secondary finding genes (Amendola et al, 2022).…”

Section: Incorrect Interpretationmentioning

confidence: 99%

Medical interpreter‐mediated genetic counseling for Spanish preferring adults at risk for a hereditary cancer syndrome

Joseph

Lindberg

Guerra

et al. 2023

Journal of Genetic Counseling

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“…Participants received exome‐based panel testing through a CLIA‐certified laboratory at the University of Washington 15 . Variants were annotated in 39 genes associated with hereditary cancer risk and 77 noncancer, medically actionable secondary finding genes 16 . Genetic testing results were classified as either pathogenic/likely pathogenic (P/LP) variant(s); negative (benign and likely benign variants); or only variants of uncertain significance (VUS).…”

Section: Methodsmentioning

confidence: 99%

“…The Cancer Health Assessment Reaching Many (CHARM) study developed and tested a multimodal intervention designed to increase access to clinically indicated genetic testing and to narrow inequities in cancer genetic service delivery 15 . Specifically, CHARM piloted a hereditary cancer risk assessment program in Kaiser Permanente Northwest (KPNW), an integrated health care delivery system in Oregon and southwest Washington state, and Denver Health (DH), an integrated safety‐net health system in Denver County, Colorado 16 . Patient recruitment prioritized outreach to groups with historically limited access to cancer genetic testing, including low income, low literacy, and minoritized racial and ethnic groups, as well as individuals with limited or unknown family history.…”

Section: Introductionmentioning

confidence: 99%

Risk management actions following genetic testing in the Cancer Health Assessments Reaching Many (CHARM) Study: A prospective cohort study

Guo,

Knerr,

Kauffman

et al. 2023

Cancer Medicine

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BackgroundGenetic testing can identify cancer risk early, enabling prevention and early detection. We describe use of risk management interventions following genetic testing in the Cancer Health Assessment Reaching Many (CHARM) study. CHARM assessed risk and provided genetic testing to low income, low literacy, and other underserved populations that historically face barriers to accessing cancer genetic services.MethodsCHARM was implemented in Kaiser Permanente Northwest (KPNW) and Denver Health (DH) between 2018 and 2020. We identified post‐testing screening (mammography, breast MRI, colonoscopy) and surgical (mastectomy, oophorectomy) procedures using electronic health records. We examined utilization in participants who did and did not receive actionable risk management recommendations from study genetic counselors following national guidelines.ResultsCHARM participants were followed for an average of 15.4 months (range: 0.4–27.8 months) after results disclosure. Less than 2% (11/680) received actionable risk management recommendations (i.e., could be completed in the initial years following testing) based on their test result. Among those who received actionable recommendations, risk management utilization was moderate (54.5%, 6/11 completed any procedure) and varied by procedure (mammogram: 0/3; MRI: 2/4; colonoscopy: 4/5; mastectomy: 1/5; oophorectomy: 0/3). Cancer screening and surgery procedures were rare in participants without actionable recommendations.ConclusionThough the number of participants who received actionable risk management recommendations was small, our results suggest that implementing CHARM's risk assessment and testing model increased access to evidence‐based genetic services and provided opportunities for patients to engage in recommended preventive care, without encouraging risk management overuse.

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“…Recruitment efforts were enriched for medically underserved populations at both sites based on previously defined methods [ 31 ]. The study defined enrolled participants with one or more of the following barriers to healthcare access as belonging to medically underserved populations: (1) Hispanic ethnicity or a race other than White; (2) residing in a Health Resources and Services Administration–defined medically underserved census tract; (3) Spanish language preference for the risk assessment or any subsequent study survey; (4) educational attainment less than high school graduate; (5) income < 200% of the Federal Poverty Level; (6) use of Medicaid insurance or being uninsured; (7) sexual orientation other than heterosexual; (8) gender identity other than cisgender female/male [ 34 ]. The KPNW Institutional Review Board (IRB) approved this study and all collaborating IRBs ceded to KPNW or approved the study separately.…”

Section: Methodsmentioning

confidence: 99%

Literacy-adapted, electronic family history assessment for genetics referral in primary care: patient user insights from qualitative interviews

Mittendorf

Lewis

Duenas

et al. 2022

Hered Cancer Clin Pract

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Background Risk assessment for hereditary cancer syndromes is recommended in primary care, but family history is rarely collected in enough detail to facilitate risk assessment and referral – a roadblock that disproportionately impacts individuals with healthcare access barriers. We sought to qualitatively assess a literacy-adapted, electronic patient-facing family history tool developed for use in diverse, underserved patient populations recruited in the Cancer Health Assessments Reaching Many (CHARM) Study. Methods Interview participants were recruited from a subpopulation of CHARM participants who experienced barriers to tool use in terms of spending a longer time to complete the tool, having incomplete attempts, and/or providing inaccurate family history in comparison to a genetic counselor-collected standard. We conducted semi-structured interviews with participants about barriers and facilitators to tool use and overall tool acceptability; interviews were recorded and professionally transcribed. Transcripts were coded based on a codebook developed using inductive techniques, and coded excerpts were reviewed to identify overarching themes related to barriers and facilitators to family history self-assessment and acceptability of the study tool. Results Interviewees endorsed the tool as easy to navigate and understand. However, they described barriers related to family history information, literacy and language, and certain tool functions. Participants offered concrete, easy-to-implement solutions to each barrier. Despite experience barriers to use of the tool, most participants indicated that electronic family history self-assessment was acceptable or preferable in comparison to clinician-collected family history. Conclusions Even for participants who experienced barriers to tool use, family history self-assessment was considered an acceptable alternative to clinician-collected family history. Barriers experienced could be overcome with minor adaptations to the current family history tool. Trial registration This study is a sub-study of the Cancer Health Assessments Reaching Many (CHARM) trial, ClinicalTrials.gov, NCT03426878. Registered 8 February 2018.

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Laboratory-related outcomes from integrating an accessible delivery model for hereditary cancer risk assessment and genetic testing in populations with barriers to access

Cited by 8 publications

References 37 publications

Medical interpreter‐mediated genetic counseling for Spanish preferring adults at risk for a hereditary cancer syndrome

Medical interpreter‐mediated genetic counseling for Spanish preferring adults at risk for a hereditary cancer syndrome

Risk management actions following genetic testing in the Cancer Health Assessments Reaching Many (CHARM) Study: A prospective cohort study

Literacy-adapted, electronic family history assessment for genetics referral in primary care: patient user insights from qualitative interviews

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