Communication About Negative and Uncertain Results: Interactional Dilemmas During a Genetic Telehealth Consult.

This case study focuses on a video telehealth consult to discuss genetic testing results. Participants include a Genetic Counselor (GC) and a Patient (P) previously diagnosed with ovarian cancer who is currently undergoing chemotherapy treatments. Utilizing conversation analysis (CA), attention is first given to a series of interactional dilemmas as GC delivers and P responds to negative, uncertain, and complex test results. Specific findings address practices employed by GC to structure the encounter and establish authority, impacts on P's participation and understandings, recurring and at times problematic orientations to "negative" findings, and inherent ambiguities faced by GC and P when attempting to discern good and bad news. Close examination of these moments provides a unique opportunity to identify, describe, and explain genetic counseling as a co-produced, interactional achievement. These findings are then integrated with patient's post-counseling survey (susceptibility, anxiety, uncertainty, fear, and hope), including reported experiences which broaden understandings of the interactional environment. Specific recommendations are raised for improving counseling skills, enhancing patients' understandings, and building therapeutic alliances addressing both patients' emotional circumstances and the complexities of genetic test results.

Variability in conceptualizations and measurement of genetic literacy.

Objective: To examine definitions and measures for genetic literacy in the published literature, and the associations between commonly utilized measures. Methods: We completed a systematic review searching eight databases for empirical articles containing quantitative measures of genetic literacy. Articles were assessed for study properties, definitions, and measure characteristics. An online survey was then completed by 531 U.S. adults to examine correlations between frequently used genetic literacy measures. Results: 92 articles met inclusion criteria for the systematic review. Articles rarely defined genetic literacy, and existing definitions showed inconsistencies in the knowledge and cognitive domains that comprise genetic literacy. Definitions frequently included objective conceptual knowledge, comprehension, and applied knowledge, however most measures only assessed objective or subjective knowledge. Genetic literacy measures were infrequently assessed for psychometric properties and the content domains assessed by measures varied considerably. Correlation analyses showed weak to moderate relationships between genetic literacy measures. Conclusion: A comprehensive and consistent definition of genetic literacy and its cognitive and conceptual domains should be implemented to inform the development of concordant measurement tools and improve research and clinical care in genetics. Innovation: We examine and compare definitions and measures of genetic literacy, suggest a more comprehensive definition, and recommendations for research development.

Predictors of Women's Intentions to Communicate Updated Genetic Test Results to Immediate and Extended Family Members.

INTRODUCTION: Many individuals who previously received negative genetic test results are eligible for updated testing. This study examined intention to communicate updated genetic test results to relatives in participants who previously received negative genetic test results. METHODS: Women with a personal or family history of breast or ovarian cancer who tested negative for BRCA1/2 before 2013 were enrolled between April 2018 and October 2019. Proportions were calculated to assess intention to communicate updated genetic test results to living immediate family, extended family, and all family. Potential predictors of intentions from the theory of planned behavior (attitudes, subjective norms, perceived behavioral control) were assessed. The three outcomes were analyzed using generalized linear models with a quasi-binomial probability distribution. RESULTS: 110 women completed the baseline assessment prior to updated testing. Participants intended to communicate genetic test results to 90% of immediate family, 51% of extended family, and 66% of all living relatives. Participants with higher subjective norms (aOR = 1.93, 95% CI: 1.08-3.57) had higher intentions to communicate genetic test results to extended family, while participants with more positive attitudes (aOR = 1.27, 95% CI: 1.01-1.60) had higher intentions to communicate to all family. Placing higher importance on genetic information was associated with higher intentions to communicate to immediate family (aOR = 1.40, 95% CI: 1.06-1.83). Lower subjective numeracy was associated with higher intentions to communicate to extended family (aOR = 0.50, 95% CI: 0.32-0.76). CONCLUSION: Attitudes and subjective norms were predictors of intention to communicate updated genetic information to at-risk biological relatives, and predictors may vary by degree of relationship.

Investigation of interest in and timing preference for cancer predisposition testing and expanded carrier screening among women of reproductive age.

Objective: To examine cognitive, relational, and social predictors of interest in and timing preference for cancer predisposition testing (CPT) and expanded carrier screening (ECS) offered in routine gynecologic care for women of reproductive age. Methods: Women between 20 and 35 years old who were currently pregnant or had a prior pregnancy (N = 351) completed an online survey. Bivariate and multivariable analyses were used to identify significant predictors of women's interest in and timing preference for CPT and ECS. Results: Most respondents reported high interest in CPT and ECS and preferred to have them when planning for a pregnancy. Perceived importance of genetic information and negative attitude towards uncertainty predicted interest in CPT and ECS in multivariable models. Genetic knowledge predicted preference for CPT or ECS when planning for a pregnancy. Conclusion: Educational and decision support tools should be developed to enhance women's knowledge and awareness of CPT and ECS and to provide them with strategies to manage uncertainty. Innovation: We examined women's timing preference for CPT and ECS and the impact of partner support and trust with gynecologist. A context-specific attitudes toward uncertainty scale was used to investigate women's particular perceptions of uncertainty in genetic testing.

Interest in Cancer Predisposition Testing and Carrier Screening Offered as Part of Routine Healthcare Among an Ethnically Diverse Sample of Young Women.

Sequencing technologies can inform individuals' risks for multiple conditions, supporting population-level screening approaches. Prior research examining interest in genetic testing has not generally examined the context of population-based approaches offered in routine healthcare or among ethnically diverse populations. Cancer predisposition testing and carrier screening could be offered broadly to women of reproductive age. This study therefore examined interest in these tests when offered as part of routine care, and predictors of interest, among an ethnically diverse sample of women aged 20-35. We conducted an online English-language survey of 450 women; 39% identified as Latina. We examined predictors of interest for two outcomes, interest in testing in the next year and level of interest, in multivariable logistic regression models and stratified analyses by Latina ethnicity. More than half of respondents reported being interested in cancer predisposition testing (55%) and carrier screening (56%) in the next year; this did not differ by ethnicity. About 26% reported being very interested in cancer predisposition testing and 27% in carrier screening. Latina respondents (32%) were more likely to be very interested in cancer predisposition testing than non-Latina respondents (22%; p < 0.03). In multivariable models, having higher worry about genetic risks, higher genetic knowledge, and higher perceived importance of genetic information were associated with higher interest across multiple models. Predictors of interest were generally similar by ethnicity. Our findings show substantial interest in both cancer predisposition testing and carrier screening among young women as part of routine healthcare with similar interest between Latina and non-Latina women. Efforts to broadly offer such testing could be important in improving access to genetic information. It will be critical to develop tools to help healthcare providers communicate about genetic testing and to address the needs of those who have less prior knowledge about genetics to support informed decision making.

Barriers to family history collection among Spanish-speaking primary care patients: a BRIDGE qualitative study.

Objectives: Family history is an important tool for assessing disease risk, and tailoring recommendations for screening and genetic services referral. This study explored barriers to family history collection with Spanish-speaking patients. Methods: This qualitative study was conducted in two US healthcare systems. We conducted semi-structured interviews with medical assistants, physicians, and interpreters with experience collecting family history for Spanish-speaking patients. Results: The most common patient-level barrier was the perception that some Spanish-speaking patients had limited knowledge of family history. Interpersonal communication barriers related to dialectical differences and decisions about using formal interpreters vs. Spanish-speaking staff. Organizational barriers included time pressures related to using interpreters, and ad hoc workflow adaptations for Spanish-speaking patients that might leave gaps in family history collection. Conclusions: This study identified multi-level barriers to family history collection with Spanish-speaking patients in primary care. Findings suggest that a key priority to enhance communication would be to standardize processes for working with interpreters. Innovation: To improve communication with and care provided to Spanish-speaking patients, there is a need to increase healthcare provider awareness about implicit bias, to address ad hoc workflow adjustments within practice settings, to evaluate the need for professional interpreter services, and to improve digital tools to facilitate family history collection.

Association of Disparities in Family History and Family Cancer History in the Electronic Health Record With Sex, Race, Hispanic or Latino Ethnicity, and Language Preference in 2 Large US Health Care Systems.

Importance: Clinical decision support (CDS) algorithms are increasingly being implemented in health care systems to identify patients for specialty care. However, systematic differences in missingness of electronic health record (EHR) data may lead to disparities in identification by CDS algorithms. Objective: To examine the availability and comprehensiveness of cancer family history information (FHI) in patients' EHRs by sex, race, Hispanic or Latino ethnicity, and language preference in 2 large health care systems in 2021. Design, Setting, and Participants: This retrospective EHR quality improvement study used EHR data from 2 health care systems: University of Utah Health (UHealth) and NYU Langone Health (NYULH). Participants included patients aged 25 to 60 years who had a primary care appointment in the previous 3 years. Data were collected or abstracted from the EHR from December 10, 2020, to October 31, 2021, and analyzed from June 15 to October 31, 2021. Exposures: Prior collection of cancer FHI in primary care settings. Main Outcomes and Measures: Availability was defined as having any FHI and any cancer FHI in the EHR and was examined at the patient level. Comprehensiveness was defined as whether a cancer family history observation in the EHR specified the type of cancer diagnosed in a family member, the relationship of the family member to the patient, and the age at onset for the family member and was examined at the observation level. Results: Among 144 484 patients in the UHealth system, 53.6% were women; 74.4% were non-Hispanic or non-Latino and 67.6% were White; and 83.0% had an English language preference. Among 377 621 patients in the NYULH system, 55.3% were women; 63.2% were non-Hispanic or non-Latino, and 55.3% were White; and 89.9% had an English language preference. Patients from historically medically undeserved groups-specifically, Black vs White patients (UHealth: 17.3% [95% CI, 16.1%-18.6%] vs 42.8% [95% CI, 42.5%-43.1%]; NYULH: 24.4% [95% CI, 24.0%-24.8%] vs 33.8% [95% CI, 33.6%-34.0%]), Hispanic or Latino vs non-Hispanic or non-Latino patients (UHealth: 27.2% [95% CI, 26.5%-27.8%] vs 40.2% [95% CI, 39.9%-40.5%]; NYULH: 24.4% [95% CI, 24.1%-24.7%] vs 31.6% [95% CI, 31.4%-31.8%]), Spanish-speaking vs English-speaking patients (UHealth: 18.4% [95% CI, 17.2%-19.1%] vs 40.0% [95% CI, 39.7%-40.3%]; NYULH: 15.1% [95% CI, 14.6%-15.6%] vs 31.1% [95% CI, 30.9%-31.2%), and men vs women (UHealth: 30.8% [95% CI, 30.4%-31.2%] vs 43.0% [95% CI, 42.6%-43.3%]; NYULH: 23.1% [95% CI, 22.9%-23.3%] vs 34.9% [95% CI, 34.7%-35.1%])-had significantly lower availability and comprehensiveness of cancer FHI (P < .001). Conclusions and Relevance: These findings suggest that systematic differences in the availability and comprehensiveness of FHI in the EHR may introduce informative presence bias as inputs to CDS algorithms. The observed differences may also exacerbate disparities for medically underserved groups. System-, clinician-, and patient-level efforts are needed to improve the collection of FHI.