A qualitative study of Black breast cancer previvors' and survivors' experiences after positive genetic testing.

Black women have a disproportionately high mortality rate from breast cancer, which is likely influenced by an intersection of environmental, cultural, economic, and social factors. Few published studies capture the experiences of Black women after a genetic diagnosis associated with increased risk for breast cancer. This study aims to explore the perspectives and experiences of Black women who carry a pathogenic variant associated with increased breast cancer risk and identify barriers to care for this population. We conducted semi-structured interviews with 16 participants with and without histories of breast cancer. The sample included representation across a range of demographic groups (e.g., income level, employment status, insurance status, and education level). Reflexive thematic analysis was the methodology used to analyze data. Five major themes emerged from participants' descriptions of their experiences during and after genetic testing: (1) searching for representation; (2) information enabling agency; (3) healthcare providers as facilitators or barriers to care; (4) self-identity impacting disclosure; and (5) evolving mental health and coping strategies. Participants identified barriers to care including challenging or misinformed healthcare providers, medical racism, and a lack of Black representation in the cancer community. This work deepens our understanding of the nuanced experiences of Black women across the continuum of cancer care, illustrates unmet needs, and provides a foundation for future research that includes the perspectives of Black women.

Counseling in a different language: An analysis of experiences and resources in multilingual genetic counseling.

This study set out to investigate the experiences of bilingual/multilingual genetic counselors in the United States and Canada who have counseled in a non-English language and characterize their training experiences to identify potential areas for improvement. A total of 32 bilingual and/or multilingual genetic counselors completed online surveys. Approximately 83% of participants typically counsel patients in languages for which they believe their proficiency is at least good without the participation of an interpreter. Challenges to providing language-concordant care include insufficient patient-facing translation tools/resources, with roughly half reporting they have created their own resources out of necessity. For training programs, there was a strong desire for more supervision in bilingual/multilingual genetic counseling students' non-English language during training to help foster genetics-related language skills development.

Implementing digital systems to facilitate genetic testing for hereditary cancer syndromes: An observational study of 4 clinical workflows.

PURPOSE: National efforts have prioritized the identification of effective methods for increasing case ascertainment and delivery of evidence-based health care for individuals at elevated risk for hereditary cancers. METHODS: This study examined the uptake of genetic counseling and testing following the use of a digital cancer genetic risk assessment program implemented at 27 health care sites in 10 states using 1 of 4 clinical workflows: (1) traditional referral, (2) point-of-care scheduling, (3) point-of-care counseling/telegenetics, and (4) point-of-care testing. RESULTS: In 2019, 102,542 patients were screened and 33,113 (32%) were identified as at high risk and meeting National Comprehensive Cancer Network genetic testing criteria for hereditary breast and ovarian cancer, Lynch syndrome, or both. Among those identified at high risk, 5147 (16%) proceeded with genetic testing. Genetic counseling uptake was 11% among the sites with workflows that included seeing a genetic counselor before testing, with 88% of patients proceeding with genetic testing after counseling. Uptake of genetic testing across sites varied significantly by clinical workflow (6% referral, 10% point-of-care scheduling, 14% point-of-care counseling/telegenetics, and 35% point-of-care testing, P < .0001). CONCLUSION: Study findings highlight the potential heterogeneity of effectiveness attributable to different care delivery approaches for implementing digital hereditary cancer risk screening programs.

Delivering Genetic Testing for Patients with Prostate Cancer: Moving Beyond Provider Knowledge as a Barrier to Care.

INTRODUCTION: The 2018 National Comprehensive Cancer Network guidelines for prostate cancer genetic testing expanded access to genetic services. Few studies have examined how this change has affected provider practice outside of large cancer centers. METHODS: We conducted a qualitative study of multi-disciplinary health care providers treating patients with prostate cancer at a safety-net hospital. Participants completed an interview that addressed knowledge, practices, and contextual factors related to providing genetic services to patients with prostate cancer. A thematic analysis using both inductive and deductive coding was undertaken. RESULTS: Seventeen providers completed interviews. Challenges in identifying eligible patients for genetic testing stemmed from a lack of a) systems that facilitate routine patient identification, and b) readily available family history data for eligibility determination. Providers identified non-medical patient characteristics that influenced their referral process, including health literacy, language, cultural beliefs, patient distress, and cost. Providers who see patients at different times along the cancer care continuum viewed benefits of testing differently. CONCLUSION: The use of digital technologies that systematically identify those eligible for genetic testing referrals may mitigate some but not all challenges identified in this study. Further research should determine how individual provider perceptions influence referral practices and patient access to genetics both within and across cancer specialties.

Optimal Integration of Behavioral Medicine into Clinical Genetics and Genomics.

Clinical genetics and genomics will exert their greatest population impact by leveraging the rich knowledge of human behavior that is central to the discipline of behavioral medicine. We contend that more concerted efforts are needed to integrate these fields synergistically, and accordingly, we consider barriers and potential actions to hasten such integration.

Racial and ethnic differences in uptake of cell-free fetal DNA aneuploidy screening in an urban safety net hospital.

OBJECTIVE: To identify racial disparities in cell-free fetal DNA (cffDNA) first-line aneuploidy screening use among advanced maternal age women at a safety net hospital. STUDY DESIGN: This retrospective cohort study of women 35 and older who delivered at Boston Medical Center from 2012 to 2015 compared to women who used cffDNA for first-line aneuploidy screening to those who did not. Maternal conventional demographics and social determinants of health were collected. We investigated the relationship between race and odds of cffDNA use, adjusting for covariates by stepwise logistic regression. RESULTS: We identified 1223 women. Seventy-two percent were publicly insured. Upon adjusting for parity, prenatal care site, year of delivery, and insurance status, odds of cffNDA use remained lower for Black and Hispanic women (adjusted odds ratio [aOR] 0.47, 95% confidence interval [CI] 0.30, 0.71 and aOR 0.34 [0.21, 0.55]) compared to White women. Language proved to be an effect modifier among Hispanic women that attenuated but did not resolve the disparity in use among Hispanic compared to White women. Racial differences in cffDNA use persisted across the study period. CONCLUSION: Disparity in cffDNA screening uptake exists by race in this diverse urban population. The gap in utilization between Hispanic and White women may be related to primary preferred language.

Genetic counseling, virtual visits, and equity in the era of COVID-19 and beyond.

Overnight, as a result of the COVID-19 pandemic, telehealth rapidly transitioned from limited application to widespread implementation. The field of genetic counseling was well positioned to make this transition to virtual care since there is generally less of a need for patients to be seen in-person for physical exams or urgent care. Going forward, virtual visits will presumably become a mainstay in the provision of genetic services and it is anticipated that clinics will adopt "hybrid" models with both in-person and virtual visit options. This commentary highlights the successes and challenges in the rapid implementation of virtual visits, focusing on who has benefited versus who has been challenged or left behind. We also discuss genetic testing considerations, including the additional steps required for patients and clinicians when testing is ordered outside of the clinical setting, which can result in delays or a lack of testing altogether. Future research considerations are presented to address the needs among the most vulnerable and help ensure equitable access and benefit.

Breast cancer polygenic risk scores in the clinical cancer genetic counseling setting: Current practices and impact on patient management.

Multivariate risk models are commonly used in clinical practice to estimate a woman's lifetime risk for breast cancer and assist in implementation of appropriate screening and risk reduction strategies. More recently, breast cancer polygenic risk scores (PRS) have been derived and integrated into these models to further improve risk estimation. While breast cancer PRS have been offered by two clinical diagnostic laboratories since 2017, little is known about the extent to which genetic counselors are ordering breast cancer PRS or incorporating the results into patient management. This study surveyed U.S. cancer genetic counselors from October 2019 to January 2020 to identify and understand their current practices with breast cancer PRS, to determine the impact of breast cancer PRS on patient management, and to anticipate future genetic counselor practices with breast cancer PRS. Fewer than half of respondents (43%, 51/120) had ordered breast cancer PRS and approximately one-third (35%, 16/46) reported that the PRS had changed their medical management recommendations. The majority of cancer genetic counselors had not ordered PRS, most commonly due to (a) lack of clinical guidelines (90%, 60/67), (b) insufficient evidence of clinical utility (88%, 59/67), and (c) lack of availability for patients of non-European ancestry (70%, 47/67). Of genetic counselors who had not ordered breast cancer PRS, only 10% (7/68) did not believe they would order PRS in the future. This is the first study to characterize genetic counselors' experiences with breast cancer PRS. Results from this study indicate that although breast cancer PRS have been clinically available for patients for several years, most cancer genetic counselors are not yet convinced they are ready to be incorporated into patient care.

Assessing and Addressing the Need for Cancer Patient Education in a Resource-Limited Setting in Haiti.

PURPOSE: Misinformation and lack of information about cancer and its treatment pose significant challenges to delivering cancer care in resource-limited settings and may undermine patient engagement in care. We aimed to investigate patients' knowledge and attitudes toward cancer and its treatment and to adapt, implement, and evaluate a low-literacy cancer patient education booklet at the Hôpital Universitaire de Mirebalais (HUM) in rural Haiti. MATERIALS AND METHODS: A low-literacy cancer patient education booklet was adapted into Haitian Creole in collaboration with clinicians at HUM. Patients were recruited for structured interviews (n = 20) and two focus groups (n = 13) designed to explore patients' attitudes toward cancer and its treatment and to assess whether the booklet increased patients' knowledge via an investigator-designed knowledge test. RESULTS: Participants reported a subjective lack of knowledge about cancer and its treatments and described views of cancer as deadly or incurable. Patients of varying education levels valued receiving written materials that set expectations about cancer treatment and expressed a desire to share the booklet with caregivers and others in their community. Participants across all levels of education significantly increased their performance on a knowledge test after counseling using the booklet (p < .001). CONCLUSION: We found that an educational booklet about cancer developed in collaboration with local providers was well received by patients with variable literacy levels and improved their knowledge of cancer and its treatment in a resource-limited setting. Such educational materials have the potential to serve as tools to engage patients with cancer and their families in care. IMPLICATIONS FOR PRACTICE: Misinformation and lack of information pose significant challenges to delivering cancer care in resource-limited settings; however, there are often no culturally and literacy appropriate tools available to aid in patient education. This article shows that written educational materials are well received by patients of variable literacy levels and can be effective tools for increasing patients' knowledge of cancer and its treatment in a limited-resource setting. Furthermore, the authors have made their educational booklet, Cancer and You, freely available online and welcome the opportunity to connect with readers of The Oncologist interested in implementing this educational booklet in clinical care.

Recontact practices of cancer genetic counselors and an exploration of professional, legal, and ethical duty.

The duty to recontact continues to be revisited in the field of clinical genetics and is currently relevant for cancer genetic counseling given the transition from single-gene to multi-gene panel testing. We recruited cancer genetic counselors through the National Society of Genetic Counselors list-serv to complete an online survey assessing current practices and perspectives regarding recontacting patients about diagnostic genetic tests. Forty-one percent of respondents reported that they have recontacted patients to offer updated (new) diagnostic genetic testing (40/97). A majority (61%, 17/28), of genetic counselors who reported recontact specifically for panel testing indicated that the availability of management recommendations for genes not previously tested routinely was an important factor in the decision to recontact. All respondents who recontacted patients reported "improved patient care" as a perceived benefit. Respondents indicated that recontact is mostly a patient responsibility (49%), followed by a shared responsibility between the provider and patient (43%). Few respondents (2%) reported a uniform ethical duty to recontact patients regarding new and updated testing, while the majority (89%) felt that there was some degree of ethical duty. A greater percentage of those who reported past recontact practices reported intention to recontact in the future (p = 0.001). There is little consensus among the genetic counselor respondents about how to approach the recontacting of patients to offer updated genetic testing.

The Search for Consumers of Web-Based Raw DNA Interpretation Services: Using Social Media to Target Hard-to-Reach Populations.

BACKGROUND: In recent years, there has been a proliferation of third-party Web-based services available to consumers to interpret raw DNA from direct-to-consumer genetic testing companies. Little is known about who uses these services and the downstream health implications. Identifying this hard-to-reach population of consumers for research raised questions about the most effective recruitment methods to undertake. Past studies have found that Web-based social media survey distribution can be cost-effective for targeting hard-to-reach populations, yet comparative efficacy information across platforms is limited. OBJECTIVE: The aim of this study was to identify the most effective Web-based strategies to identify and recruit the target population of direct-to-consumer genetic testing users who also made use of third-party interpretation services to analyze their raw genetic data. Web-based survey recruitment methods varying by social media platform and advertising method were compared in terms of cost-effectiveness and demographics of survey respondents. METHODS: A total of 5 Web-based survey distribution conditions were examined: 4 paid advertising services and 1 unpaid service. For the paid services, a 2x2 quasi-experimental design compared social media platforms (Facebook vs Twitter) and advertising tracking metrics (by click vs by conversion). The fifth unpaid comparison method consisted of study postings on the social media platform, Reddit, without any paid advertising. Links to identical Web-based versions of the study questionnaire were posted for 10 to 14 days for each of the distribution conditions, which allowed tracking the number of respondents that entered and completed the questionnaire by distribution condition. RESULTS: In total, 438 individuals were recruited to the study through all conditions. A nearly equivalent number of participants were recruited from paid campaigns on Facebook (n=159) and Twitter (n=167), with a smaller sample recruited on Reddit (n=112). Significantly more participants were recruited through conversion-tracking (n=222) than through click-tracking campaigns (n=104; Z=6.5, P<.001). Response rates were found to be partially driven by organic sharing of recruitment materials among social media users. Conversion tracking was more cost-effective than click tracking across paid social media platforms. Significant differences in terms of gender and age distributions were noted between the platforms and between the tracking metrics. CONCLUSIONS: Web-based recruitment methods were effective at recruiting participants from a hard-to-reach population in a short time frame. There were significant differences in the effectiveness of various paid advertising techniques. Recruitment through Web-based communities also appeared to perform adequately, yet it may be limited by the number of users accessible in open community groups. Future research should evaluate the impact of organic sharing of recruitment materials because this appeared to play a substantial role in the observed effectiveness of different methods.

Correction: The Search for Consumers of Web-Based Raw DNA Interpretation Services: Using Social Media to Target Hard-to-Reach Populations.

[This corrects the article DOI: 10.2196/12980.].

Celebrity disclosures and information seeking: the case of Angelina Jolie.

PURPOSE: On 14 May 2013, actress Angelina Jolie disclosed that she had a BRCA1 mutation and underwent a prophylactic bilateral mastectomy. This study documents the impact of her disclosure on information-seeking behavior, specifically that regarding online genetics and risk reduction resources available from the National Cancer Institute. METHODS: Using Adobe Analytics, daily page views for 11 resources were tracked from 23 April 2013 through 25 June 2013. Usage data were also obtained for four resources over a 2-year period (2012-2013). Source of referral that viewers used to locate a specific resource was also examined. RESULTS: There was a dramatic and immediate increase in traffic to the National Cancer Institute's online resources. The Preventive Mastectomy fact sheet received 69,225 page views on May 14, representing a 795-fold increase as compared with the previous Tuesday. A fivefold increase in page views was observed for the PDQ Genetics of Breast and Ovarian Cancer summary in the same time frame. A substantial increase, from 0 to 49%, was seen in referrals from news outlets to four resources from 7 May to 14 May. CONCLUSION: Celebrity disclosures can dramatically influence online information-seeking behaviors. Efforts to capitalize on these disclosures to ensure easy access to accurate information are warranted.

Acceptability and feasibility of a virtual counselor (VICKY) to collect family health histories.

PURPOSE: To overcome literacy-related barriers in the collection of electronic family health histories, we developed an animated Virtual Counselor for Knowing your Family History, or VICKY. This study examined the acceptability and accuracy of using VICKY to collect family histories from underserved patients as compared with My Family Health Portrait (MFHP). METHODS: Participants were recruited from a patient registry at a safety net hospital and randomized to use either VICKY or MFHP. Accuracy was determined by comparing tool-collected histories with those obtained by a genetic counselor. RESULTS: A total of 70 participants completed this study. Participants rated VICKY as easy to use (91%) and easy to follow (92%), would recommend VICKY to others (83%), and were highly satisfied (77%). VICKY identified 86% of first-degree relatives and 42% of second-degree relatives; combined accuracy was 55%. As compared with MFHP, VICKY identified a greater number of health conditions overall (49% with VICKY vs. 31% with MFHP; incidence rate ratio (IRR): 1.59; 95% confidence interval (95% CI): 1.13-2.25; P = 0.008), in particular, hypertension (47 vs. 15%; IRR: 3.18; 95% CI: 1.66-6.10; P = 0.001) and type 2 diabetes (54 vs. 22%; IRR: 2.47; 95% CI: 1.33-4.60; P = 0.004). CONCLUSION: These results demonstrate that technological support for documenting family history risks can be highly accepted, feasible, and effective.

Impact of family history assessment on communication with family members and health care providers: A report from the Family Healthware™ Impact Trial (FHITr).

OBJECTIVE: This study examines the impact of Family Healthware™ on communication behaviors; specifically, communication with family members and health care providers about family health history. METHODS: A total of 3786 participants were enrolled in the Family Healthware™ Impact Trial (FHITr) in the United States from 2005-7. The trial employed a two-arm cluster-randomized design, with primary care practices serving as the unit of randomization. Using generalized estimating equations (GEE), analyses focused on communication behaviors at 6month follow-up, adjusting for age, site and practice clustering. RESULTS: A significant interaction was observed between study arm and baseline communication status for the family communication outcomes (p's<.01), indicating that intervention had effects of different magnitude between those already communicating at baseline and those who were not. Among participants who were not communicating at baseline, intervention participants had higher odds of communicating with family members about family history risk (OR=1.24, p=0.042) and actively collecting family history information at follow-up (OR=2.67, p=0.026). Family Healthware™ did not have a significant effect on family communication among those already communicating at baseline, or on provider communication, regardless of baseline communication status. Greater communication was observed among those at increased familial risk for a greater number of diseases. CONCLUSION: Family Healthware™ prompted more communication about family history with family members, among those who were not previously communicating. Efforts are needed to identify approaches to encourage greater sharing of family history information, particularly with health care providers.

A randomized trial of the clinical utility of genetic testing for obesity: design and implementation considerations.

BACKGROUND: Obesity rates in the United States have escalated in recent decades and present a major challenge in public health prevention efforts. Currently, testing to identify genetic risk for obesity is readily available through several direct-to-consumer companies. Despite the availability of this type of testing, there is a paucity of evidence as to whether providing people with personal genetic information on obesity risk will facilitate or impede desired behavioral responses. PURPOSE: We describe the key issues in the design and implementation of a randomized controlled trial examining the clinical utility of providing genetic risk information for obesity. METHODS: Participants are being recruited from the Coriell Personalized Medicine Collaborative, an ongoing, longitudinal research cohort study designed to determine the utility of personal genome information in health management and clinical decision making. The primary focus of the ancillary Obesity Risk Communication Study is to determine whether genetic risk information added value to traditional communication efforts for obesity, which are based on lifestyle risk factors. The trial employs a 2 × 2 factorial design in order to examine the effects of providing genetic risk information for obesity, alone or in combination with lifestyle risk information, on participants' psychological responses, behavioral intentions, health behaviors, and weight. RESULTS: The factorial design generated four experimental arms based on communication of estimated risk to participants: (1) no risk feedback (control), (2) genetic risk only, (3) lifestyle risk only, and (4) both genetic and lifestyle risk (combined). Key issues in study design pertained to the selection of algorithms to estimate lifestyle risk and determination of information to be provided to participants assigned to each experimental arm to achieve a balance between clinical standards and methodological rigor. Following the launch of the trial in September 2011, implementation challenges pertaining to low enrollment and differential attrition became apparent and required immediate attention and modifications to the study protocol. Although monitoring of these efforts is ongoing, initial observations show a doubling of enrollment and reduced attrition. LIMITATIONS: The trial is evaluating the short-term impact of providing obesity risk information as participants are followed for only 3 months. This study is built upon the structure of an existing personalized medicine study wherein participants have been provided with genetic information for other diseases. This nesting in a larger study may attenuate the effects of obesity risk information and has implications for the generalizability of study findings. CONCLUSIONS: This randomized trial examines value of obesity genetic information, both when provided independently and when combined with lifestyle risk assessment, to motivate individuals to engage in healthy lifestyle behaviors. Study findings will guide future intervention efforts to effectively communicate genetic risk information.

Racial Disparities in Accessing Care along the Continuum of Cancer Genetic Service Delivery.

BACKGROUND: Public health calls to ensure equity in genomics and precision medicine necessitate a closer examination of how these efforts might differentially affect access to genetic services across demographic subgroups. This study set out to examine racial/ethnic disparities along the cancer genetic service delivery continuum. METHODS: Retrospective data are drawn from 15 clinical sites across 6 U.S. States. Individuals who screened at-risk for hereditary cancer were: (i) referred/scheduled to see a genetic counselor (referral workflow), or (ii) offered genetic testing at the point-of-care (POC testing workflow). Logistic regression analyses evaluated the associations between race/ethnicity and several outcomes including appointment scheduling, genetic counseling, and genetic testing, controlling for demographics, clinical factors, and county-level covariates. RESULTS: A total of 14,527 patients were identified at-risk. Genetic testing uptake was significantly higher at POC sites than referral sites (34% POC vs. 11% referral, P < 0.001). Race/ethnicity was significantly associated with testing uptake among all sites, with non-Hispanic Blacks having lower odds of testing compared with non-Hispanic Whites [aOR = 0.84; 95% confidence interval (CI), 0.71-1.00; P = 0.049]. Moreover, this disparity was observed at referral sites, but not POC sites. Among patients scheduled, non-Hispanic Blacks had lower odds of counseling (aOR = 0.28; 95% CI, 0.17-0.47; P < 0.001). CONCLUSIONS: Findings suggest that factors influencing genetic counseling show rates may be driving disparities in genetic testing. IMPACT: Strategies to reduce barriers to seeing a genetic counselor, including modifications to clinical workflow, may help mitigate racial/ethnic disparities in genetic testing.

Characterizing Referrals for Prostate Cancer Genetic Services in a Safety-Net Hospital.

PURPOSE: Little is known about the uptake of germline genetic testing for patients with prostate cancer after 2018 guideline changes. This study characterizes genetic service referral patterns and predictors of referrals among patients with prostate cancer. METHODS: A retrospective cohort study using electronic health record data was conducted at an urban safety-net hospital. Individuals diagnosed with prostate cancer between January 2011 and March 2020 were eligible. The primary outcome was referral to genetic services after diagnosis. Using multivariable logistic regression, we identified patient characteristics associated with referrals. Interrupted time series analysis using a segmented Poisson regression examined whether guideline changes resulted in higher rates of referral after implementation. RESULTS: The cohort included 1,877 patients. Mean age was 65 years; 44% identified as Black, 32% White; and 17% Hispanic or Latino. The predominant insurance type was Medicaid (34%) followed by Medicare or private insurance (25% each). Most were diagnosed with local disease (65%), while 3% had regional and 9% had metastatic disease. Of the 1,877 patients, 163 (9%) had at least one referral to genetics. In multivariable models, higher age was negatively associated with referral (odds ratio [OR], 0.96; 95% CI, 0.94 to 0.98), while having regional (OR, 4.51; 95% CI, 2.44 to 8.34) or metastatic disease (OR, 4.64; 95% CI, 2.98 to 7.24) versus local only disease at diagnosis was significantly associated with referral. The time series analysis demonstrated a 138% rise in referrals 1 year after guideline implementation (relative risk, 3.992; 97.5% CI, 2.20 to 7.24; P < .001). CONCLUSION: Referrals to genetic services increased after guideline implementation. The strongest predictor of referral was clinical stage, suggesting opportunities to raise awareness about guideline eligibility for patients with advanced local or regional disease who may benefit from genetic services.