From intention to action: Assessing need and creating a JEDI toolkit for individuals teaching cancer genetics curriculum.

The effects of systemic racism persist in cancer care and contribute to disparities. Recent publications have shown that injustices and biases continue to affect the field of genetic counseling in the form of microaggressions, barriers to entry, and disparate patient care. Toolkits are one method that can be used to incorporate anti-racist practices to address this need. We sought to identify the current state of coverage of Justice, Equity, Diversity, and Inclusion (JEDI) topics during cancer genetics training across genetic counseling training programs (GCTPs) and utilize this information to create a novel toolkit that would support integration of anti-racist pedagogy into formal genetic counseling curricula. To accomplish this aim, recent learners and program directors/cancer course instructors were surveyed using two novel surveys. The survey responses, which helped to identify the frequency and manner of incorporation of JEDI topics into cancer curricula in GCTPs, led to the development of an educational toolkit. Recent learners and instructors/program directors identified multiple content areas within cancer genetic training in which they felt incorporating JEDI topics would be desired. A toolkit to support the incorporation of anti-racist teaching and practices into cancer genetics training in GCTPs was created. This toolkit can be adapted to focus on topics relevant to the care of other marginalized identities and to support the learning of other healthcare providers receiving cancer genetics education.

Initial outcomes and insights from a novel high-risk prostate cancer screening clinic.

INTRODUCTION: Guidelines for germline testing in patients with prostate cancer (PCa) are identifying family members who require additional surveillance given pathogenic variants (PVs) that confer increased PCa risk. We established an interdisciplinary clinic for cancer surveillance in high-risk individuals aimed to implement screening recommendations. This study aimed to characterize the clinical features of this cohort. PATIENTS AND METHODS: The Prostate Cancer Risk Clinic (PCRC) was established for unaffected individuals with germline PVs or a strong PCa family history. PCa screening, urine labs, and questionnaires were included in the visit. Individuals with BRCA1/2 PVs underwent clinical breast exam as well. Data from the initial visit were abstracted from the medical record and questionnaires for analysis. RESULTS: Thirty-five individuals with increased PCa risk were followed by the PCRC with a median age of 47 years of age. Twenty individuals (57%) had a family history of PCa, and 34 (97%) had a germline PV associated with an increased risk for developing PCa. Four individuals underwent biopsy due to care in the PCRC, with one PCa identified in an individual with TP53 PV. Median patient response scores indicated mild symptoms of an enlarged prostate (AUASS), normal erectile function (SHIM), and relatively low anxiety about developing PCa (MAX-PC). However, there were notable "outlier" scores on each questionnaire. CONCLUSIONS: Individuals with prostates and BRCA1/2 PVs, among other germline PVs, can benefit from a comprehensive interdisciplinary approach to high-risk management. PCa was identified in an individual with a non-BRCA PV, emphasizing the importance and need for high-risk screening guidelines across all genes with increased risk for PCa. "Outlier" patient response scores demonstrate that some participants experienced worse symptoms or anxiety than was indicated by median scores alone.

Combination phacoemulsification and pars plana vitrectomy for retinal reattachment surgery in the Siberian Husky breed.

OBJECTIVE: To report the success rate and complications of combined phacoemulsification and pars plana vitrectomy (PPV) for treatment of cataracts and retinal detachment in the Siberian Husky breed. ANIMALS STUDIED: Client-owned Siberian Husky dogs that underwent combined phacoemulsification and PPV at two veterinary referral centers. PROCEDURE: Retrospective study of 16 Siberian Husky dogs that underwent combined phacoemulsification and PPV with a minimum 3-month postoperative follow-up. Signalment and preoperative ophthalmic examination findings, intraoperative findings, and postoperative visual status and complications were recorded. Functional success was defined as the maintenance or restoration of vision. RESULTS: Seventeen eyes of 16 dogs were evaluated. Immediate postoperative anatomic success was achieved in all 17 eyes (100%), with functional success through the last known follow-up examination achieved in 88.2% of operated eyes (15/17). The most common postoperative complication was silicone oil migration into the anterior chamber (AC-SiO migration), occurring in 47.1% of eyes (8/17), followed by corneal endothelial decompensation and glaucoma each occurring in 17.6% of eyes (3/17). CONCLUSIONS: Combined phacoemulsification and PPV is a viable option in Siberian Husky dogs with cataracts and preoperative retinal detachment. Visual success was achieved in 88.2% of eyes, with the most common postoperative complication being AC-SiO migration.

Paraganglioma and other tumour detection rates in individuals with SDHx pathogenic variants by age of diagnosis and after the age of 50.

OBJECTIVE: Patients with SDHx germline mutations (SDHA, AF2, B, C, D) are at risk for paragangliomas (PGLs), renal cell carcinoma and gastrointestinal stromal tumours. The aim of this study was to evaluate the age of SDHx tumour diagnosis in those with pathogenic variants (PVs), notably tumour detection after the age of 50 years. STUDY DESIGN: Longitudinal retrospective observational analysis. PATIENTS: Individuals with SDHx PVs. MEASUREMENTS: Demographic, clinical, genetic, screening and tumour detection and treatment data were abstracted from the electronic medical record. Descriptive analysis was utilised. RESULTS: A total of 165 patients with SDHx PVs from 34 families were evaluated. Sixty-eight patients (41.2%) had at least one known SDHx-related tumour in their history, identified through symptoms, screening or incidentally. The average age of SDHx-related tumour diagnosis was 32.0 years. Age of diagnosis varied by the gene. Nine patients (n = 50; 18.0%) were identified with a tumour after the age of 50, identified via baseline screening after PV identification, or due to symptoms before molecular SDHx diagnosis. CONCLUSIONS: Though tumours were identified in individuals above the age of 50; they were all identified on baseline screening or due to symptoms, confirming that baseline screening is essential. Given the slow-growing nature of PGLs, these tumours might have been discovered before age 50 if molecular diagnosis and baseline screening had occurred earlier. Considering discontinuing screening after age 50 may be warranted if baseline screen imaging is negative and the individual does not have a prior tumour history.

Implementing innovative service delivery models in genetic counseling: a qualitative analysis of facilitators and barriers.

Given the increasing demand for genetic counseling, implementation of innovative service delivery models (SDMs) has been proposed to improve access and increase the efficiency of genetic counseling services. This study investigated the key considerations in genetic counseling practices that impact the decision to implement innovative SDMs, as well as barriers and facilitators to implementation. A cross-sectional, qualitative research design was employed, using focus groups. Genetic counselors (GCs) were recruited from respondents to an online survey about SDMs and by posting an invitation to the National Society of Genetic Counselors (NSGC) listserv. A total of 30 participants participated in either in-person (n = 3) or online (n = 5) focus groups, facilitated by members of the Service Delivery Model subcommittee of the NSGC Access and Service Delivery Committee. Transcribed audio and written notes from the focus groups were coded, utilizing an inductive thematic analysis method. Five overarching themes that impact decisions to implement and use innovative SDMs were identified: (a) Patient volume and efficiency are key motivators in trying innovative SDMs; (b) the decision to change is facilitated by available resources; (c) the implementation of innovative SDMs is multidimensional and complex process; (d) there is concern about the impact on patient-provider relationships with the utilization of innovative SDMs; and (e) measuring outcomes of innovative SDM facilitates acquisition of additional resources and support. Approaches to innovative SDM selection and implementation vary by institution needs, resources, and population as demonstrated by the variety of approaches to similar barriers. Outcomes related to the implementation of innovative SDMs in genetic counseling practice should be measured to demonstrate the value of innovative genetic counseling SDMs, improvement of access to care, and to justify need for additional resources to support implementation of these models.

Genetic counseling service delivery models: A study of genetic counselors' interests, needs, and barriers to implementation.

As demand for genetic services grows, innovative genetic counseling service delivery models (SDMs) are needed. However, there is limited research on the barriers and needs of genetic counselors (GCs) interested in implementing new SDMs into their practice. In fall 2017, the National Society of Genetic Counselors (NSGC) Access and Service Delivery Committee's SDM Subcommittee sent an online survey to the NSGC membership regarding the use of SDMs, which aimed to update the understanding of current SDM use and how this has changed over time. The survey included several questions with open-response components assessing the need for new SDMs and barriers to implementation. Inductive thematic analysis was used to identify common themes. Among 517 usable responses (16% response rate), more than half (54.4%) of respondents indicated their current SDM was inadequate to address the patient need in their area. Nearly two-thirds (64.8%) indicated they were in the process of or planning to make changes to their SDM, although 40.6% did not have a specific timeline. Three major themes related to expanding access, reimbursement for services, and lack of support were identified from responses to questions about implementation of additional SDMs. Access included subthemes of geographic and physical location limitations, addressing long wait times, and the need to expand services. Reimbursement for services included issues with billing, genetic counselor licensure, and limitations due to the need for physician involvement in billing. The lack of support was evident with issues related to understaffing; difficulty gaining support at the administrative, institutional, or physician level; time constraints; and funding concerns. This study shows that GCs need education, tools, and resources to overcome barriers in implementing new or adapting current SDMs, and there is a need for policy change, including new billing and coverage models.

What men want: Qualitative analysis of what men with prostate cancer (PCa) want to learn regarding genetic referral, counseling, and testing.

BACKGROUND: Guidelines have changed recently to include genetic counseling (GC) and/or genetic testing (GT) for all men with aggressive prostate cancer (PCa). This study aimed to identify what information men with PCa desire before and from GC. METHODS: Focus groups were conducted with men who have PCa. Audio recordings were analyzed for themes related to GT, the information they desired from health care providers, and implications for family members. RESULTS: Thirty-seven men with PCa participated in seven focus groups. Nearly all men felt GT was beneficial and impactful for their family and themselves. Most men were unaware of the risks to female relatives associated with hereditary cancer. Participants discussed that genetics should be incorporated at an appropriate time of their diagnostic journey. CONCLUSION: This study showed that men valued GC and GT for personal and familial implications, and often did not associate PCa genetics with risk for female relatives to develop cancer. Consideration should be given to the GC timing in regard to where men are in their treatment process. Providers referring patients can leverage patient motivations and utilize their relationship with the patient to determine the appropriate timing and personalize discussion with the patient regarding GC and GT.

Tumor detection rates in screening of individuals with SDHx-related hereditary paraganglioma-pheochromocytoma syndrome.

PURPOSE: Minimal data exist regarding the efficacy of screening protocols for individuals with SDHx germline pathogenic variants with hereditary paraganglioma-pheochromocytoma syndrome. This study aimed to evaluate the SDHx-related tumor detection rate in individuals undergoing clinical screening protocols. METHODS: A multicenter retrospective longitudinal observational study was conducted. Individuals with germline SDHx pathogenic variants underwent clinical whole-body imaging and biochemical testing. RESULTS: Two hundred sixty-three individuals with SDHx germline pathogenic variants completed 491 imaging screens. Individuals with SDHB germline pathogenic variants were most common (n = 188/263, 72%), followed by SDHD (n = 35/263, 13%) and SDHC (n = 28/263, 11%). SDHx-related tumors were found in 17% (n = 45/263) of the cohort. Most SDHx-related tumors were identified on baseline imaging screen (n = 39/46, 85%). Individuals with SDHD pathogenic variants had the highest tumor detection rate (n = 14/35, 40%). Of imaging screens identifying SDHx-related paraganglioma/pheochromocytoma, 29% (n = 12/41) had negative biochemical testing. Secondary actionable findings were identified in 15% (n = 75/491) of imaging screens. CONCLUSION: Current SDHx screening protocols are effective at identifying SDHx-related tumors. Tumor detection rates vary by SDHx gene and screening has the potential to uncover actionable secondary findings. Imaging is an essential part of the screening process as biochemical testing alone does not detect all disease.

Genetic Counseling Service Delivery Models in the United States: Assessment of changes in use from 2010 to 2017.

In 2010, the National Society of Genetic Counselors (NSGC) membership was surveyed about their use of genetic counseling service delivery models (SDMs) including in-person, telephone, telegenetics, and group genetic counseling. Since that time, the demand for genetic counseling services has increased in the United States (US). We hypothesized that the use of various SDMs has increased to help address the growing demand. To assess for changes in SDM use and interest in implementing innovative SDMs, the NSGC SDM subcommittee sent an electronic survey to the NSGC membership (N = 3,616), which was open from August 2017 to December 2017. Descriptive statistics and chi-square analysis were used to compare and identify differences in SDM utilization between 2010 and 2017. There were 590 total responses (16.3% response rate) with 517 usable responses, representing multiple genetic counseling specialties. Compared to 2010, significantly fewer respondents indicated they 'always' provide services in-person in 2017 (p < .04, df = 4), with 92.6% of respondents reporting 'always' or 'often' utilizing in-person SDM in 2017. Telephone genetic counseling was reported by 12.5% as a model used always or often, compared to 8% in 2010; however, the shift toward or away from telephone genetic counseling since 2010 was not statistically significant (p = .27, df = 4). The number of respondents using telegenetics always or often increased from 2.3% in 2010 to 6.7% in 2017, and more respondents report using telegenetics at an increased frequency (p < .01, df = 4). In contrast, those reporting use of a group genetic counseling SDM always or often decreased from 3.0% to 1.4%, though there was not a significant shift toward or away the frequency of respondents using group genetic counseling (p = .21, df = 4). Almost all respondents (93%) were interested in implementing an additional and/or different SDM; however, many (74%) identified barriers to implementation. There was an increase in those reporting use of 3 or 4 SDMs in practice since 2010 (p < .02). Genetic counselors may be attempting to compensate for longer wait times by implementing additional SDMs to improve access for patients. There is strong interest in learning about and implementing innovative SDMs to improve access and efficiency. However, resources need to be developed to help genetic counselors identify and overcome implementation barriers to achieve these goals.

SDHA secondary findings in germline testing: counseling and surveillance considerations.

This commentary explores the complexities faced by clinicians when encountering a secondary SDHA pathogenic variant (PV) in patients without a personal or family history of SDHA-related tumors. The increasing use of germline multi-gene panel testing has led to a rise in such secondary findings, necessitating a nuanced approach to counseling, surveillance, and decision-making. We aim to discuss the current data surrounding the penetrance of SDHA PVs, the spectrum of screening guidelines, recommendations for educating individuals and families about their secondary findings, and the need for future research to optimize care for these individuals. Practical recommendations for clinicians dealing with patients with secondary SDHA findings include acknowledging the limitations of existing guidelines, fostering shared decision-making, and considering specialist referrals. Overall, the evolving landscape of SDHA penetrance data warrants ongoing reassessment of surveillance approaches.

The Natural History of Observed SDHx -Related Head and Neck Paragangliomas Using Three-Dimensional Volumetric Tumor Analysis.

OBJECTIVE: Characterize the natural history and clinical behavior of head and neck paragangliomas (HNPGLs) in subjects with succinate dehydrogenase ( SDHx ) pathogenic variants using volumetric tumor measurements. STUDY DESIGN: Cohort study. SETTING: Tertiary academic referral center. PATIENTS: Subjects with SDHx HNPGLs under observation for at least 6 months with 2 or more magnetic resonance imaging or computed tomography scans. INTERVENTIONS: Diagnostic interventions include next-generation sequencing, magnetic resonance imaging, and computed tomography. Therapeutic interventions include microsurgical resection or stereotactic radiosurgery. MAIN OUTCOME MEASURES: Radiographic progression was defined as a 20% or greater increase in volume. Cranial nerve (CN) functional outcomes were assessed using clinical documentation. RESULTS: A total of 19 subjects with 32 tumors met the inclusion criteria. Median radiographic follow-up was 2.2 years, and the median volumetric growth rate was 0.47 cm 3 /yr. Kaplan-Meier estimated rates of survival free of radiographic progression for all SDHx tumors at 1, 2, and 3 years were 69, 50, and 22%, respectively. No tumors developed new CN palsies during the period of observation. CONCLUSIONS: Over intermediate-term follow-up, observation of treatment-naive SDHx -related HNPGLs did not result in new cranial neuropathy. Although indefinite observation is only appropriate for select cases, these data support an interval of observation to characterize growth rate in asymptomatic to minimally symptomatic patients, who are at high risk of treatment-related morbidity. Given the early age at diagnosis and high risk of bilateral multifocal phenotypes in SDHx HNPGL mutation carriers, these data may aid in optimizing patient tumor control and CN functional preservation. Further studies are necessary to determine whether pretreatment growth rate is correlated with clinical outcomes.

A need to tailor surveillance based on family history: describing a highly penetrant familial paraganglioma kindred with an SDHD pathogenic variant.

Pathogenic variants (PVs) in the SDHD gene increase risk for paragangliomas (PGL)/pheochromocytomas, renal cell carcinomas, and gastrointestinal stromal tumors. Penetrance in individuals with SDHD PVs varies in reported research from 40-70%, and there is limited evidence of specific genotype risks. This study aims to characterize a multi-generational family with SDHD p.Trp43* PVs and potential genotype-phenotype considerations for surveillance. Individuals with a paternally inherited SDHD p.Trp43*(c.129G > A) PV were identified. Genetic, medical and family histories were abstracted, including clinical characteristics, tumor histories, and treatment approaches. Eleven individuals with the SDHD PV in the same kindred were diagnosed with 41 SDHx-related tumors across all family members. Eight individuals developed 27 head and neck PGL of varying origins, and seven individuals developed tumors outside of the head and neck region. Many individuals had multiple tumors, and age of first tumor diagnosis ranged from age 10 to age 45 years old. Individuals with SDHD p.Trp43* variants may have higher risks for SDHx related tumors than other SDHD variants. Prioritizing identification of at-risk individuals and initiating surveillance tailored to family history is recommended given the rate of multiple tumors found in one familial branch of individuals under 18 years old. Individuals with strong family histories of PGL at young ages with this PV will benefit from tailored surveillance recommendations.

Inherited TP53 Variants and Risk of Prostate Cancer.

BACKGROUND: Inherited germline TP53 pathogenic and likely pathogenic variants (gTP53) cause autosomal dominant multicancer predisposition including Li-Fraumeni syndrome (LFS). However, there is no known association of prostate cancer with gTP53. OBJECTIVE: To determine whether gTP53 predisposes to prostate cancer. DESIGN, SETTING, AND PARTICIPANTS: This multi-institutional retrospective study characterizes prostate cancer incidence in a cohort of LFS males and gTP53 prevalence in a prostate cancer cohort. OUTCOME MEASUREMENTS AND STATISTICAL ANALYSIS: We evaluated the spectrum of gTP53 variants and clinical features associated with prostate cancer. RESULTS AND LIMITATIONS: We identified 31 prostate cancer cases among 163 adult LFS males, including 26 of 54 aged ≥50 yr. Among 117 LFS males without prostate cancer at the time of genetic testing, six were diagnosed with prostate cancer over a median (interquartile range [IQR]) of 3.0 (1.3-7.2) yr of follow-up, a 25-fold increased risk (95% confidence interval [CI] 9.2-55; p < 0.0001). We identified gTP53 in 38 of 6850 males (0.6%) in the prostate cancer cohort, a relative risk 9.1-fold higher than that of population controls (95% CI 6.2-14; p < 0.0001; gnomAD). We observed hotspots at the sites of attenuated variants not associated with classic LFS. Two-thirds of available gTP53 prostate tumors had somatic inactivation of the second TP53 allele. Among gTP53 prostate cancer cases in this study, the median age at diagnosis was 56 (IQR: 51-62) yr, 44% had Gleason ≥8 tumors, and 29% had advanced disease at diagnosis. CONCLUSIONS: Complementary analyses of prostate cancer incidence in LFS males and gTP53 prevalence in prostate cancer cohorts suggest that gTP53 predisposes to aggressive prostate cancer. Prostate cancer should be considered as part of LFS screening protocols and TP53 considered in germline prostate cancer susceptibility testing. PATIENT SUMMARY: Inherited pathogenic variants in the TP53 gene are likely to predispose men to aggressive prostate cancer.

Clinical Germline Testing Results of Men With Prostate Cancer: Patient-Level Factors and Implications of NCCN Guideline Expansion.

Germline likely pathogenic or pathogenic variants (PVs) have been identified in up to 17% of men with prostate cancer (PC) and may drive disease severity or be targetable by novel therapies. National Comprehensive Cancer Network (NCCN) guidelines encouraging germline testing in metastatic PC were recently expanded to include all men with high-risk, very high-risk, or regional PC. Our aim was to assess the impact of expanded NCCN guidelines on the detection rate of germline PVs and to determine patient-level factors associated with a PV germline testing result. PATIENTS AND METHODS: Men with PC underwent multigene germline genetic testing for PVs from June 2016 to December 2018, and trends were compared. The association of patient-level factors with a PV germline testing result, where ≥ 1 PV was identified, was assessed using analysis of variance and univariate logistic regression. Sensitivity analyses were limited to clinically actionable variants and those associated with disease severity or progression (BRCA1/2 and ATM). RESULTS: Of 408 men undergoing germline testing, 42 (10.3%) men had PVs and 366 (89.7%) men did not have PVs identified. The proportion of men identified with a germline PV remained stable following testing criteria expansion (9.4% v 10.6%, P = .73). No patient-level factors were significantly associated with increased odds of a PV germline testing result, including age at diagnosis, race, pretreatment prostate-specific antigen, Gleason grade group, NCCN risk group, and family history of cancer (breast and/or ovarian, prostate, or any cancer). CONCLUSION: This study demonstrated a stable PV detection rate in men with PC using expanded criteria aligned to the updated NCCN testing guidelines. However, we did not find strong evidence to suggest that patient-level factors are associated with PV germline testing results. These findings support the recent expansion of NCCN germline testing guidelines in PC.

Improving access to cancer genetic services: perspectives of high-risk clients in a community-based setting.

Cancer genetic services are underutilized by high-risk clients in community-based health settings. To understand this disparity, 108 Planned Parenthood high-risk clients completed a utilization-focused survey. Clients expressed interest (78.8%) and intention (75.0%) in seeking genetic services. Personal/familial implications for cancer risk were the strongest motivators for seeking services (63.0-79.6%). Finances (39.6%) and worry (37.0%) were the biggest barriers. To reduce disparities in access to cancer genetics services, clinicians must understand clients' concerns and tailor their recommendations.

Pathogenic Germline DNA Repair Gene and HOXB13 Mutations in Men With Metastatic Prostate Cancer.

PURPOSE: Germline mutations in DNA repair (DR) genes and susceptibility genes CDKN2A and HOXB13 have previously been associated with prostate cancer (PC) incidence and/or progression. However, the role and prevalence of this class of mutations in metastatic PC (mPC) are not fully understood. PATIENTS AND METHODS: To evaluate the frequency of pathogenic/likely pathogenic germline variants (PVs/LPVs) in men with mPC, this study sequenced 38 DR genes, CDKN2A, and HOXB13 in a predominantly white cohort of 317 patients with mPC. A PC registry at the University of Utah was used for patient sample acquisition and retrospective clinical data collection. Deep target sequencing allowed for germline and copy number variant analyses. Validated PVs/LPVs were integrated with clinical and demographic data for statistical correlation analyses. RESULTS: All pathogenic variants were found in men self-reported as white, with a carrier frequency of 8.5% (DR genes, 7.3%; CDKN2A/HOXB13, 1.2%). Consistent with previous reports, mutations were most frequently identified in the breast cancer susceptibility gene BRCA2. It was also found that 50% of identified PVs/LPVs were categorized as founder mutations with European origins. Correlation analyses did not support a trend toward more advanced or earlier-onset disease in comparisons between carriers and noncarriers of deleterious DR or HOXB13 G84E mutations. CONCLUSION: These findings demonstrate a lower prevalence of germline PVs/LPVs in an unselected, predominantly white mPC cohort than previously reported, which may have implications for the design of clinical trials testing targeted therapies. Larger studies in broad and diverse populations are needed to more accurately define the prevalence of germline mutations in men with mPC.

Evaluating and improving the implementation of a community-based hereditary cancer screening program.

Healthcare disparities exist in the provision of cancer genetic services including genetic counseling and testing related to BRCA1/2 mutations. To address this in a community health setting a screening tool was created to identify high-risk women. This study evaluates the implementation of the tool and identifies opportunities for improved cancer genetic screening, including regular clinician education. A mixed-method approach was used to evaluate clinician utilization of the screening tool at Planned Parenthood affiliates. Novel surveys that evaluated acceptance and implementation were administered to clinicians (n = 14) and semi-structured interviews (n = 6) were used to explore clinicians' perspectives and identify gaps in its utilization. Educational modules that addressed gaps were developed, implemented, and evaluated using a post-education survey (n = 8). Clinicians reported confidence in administering and interpreting the screening tool, but reported less confidence in their knowledge of cancer genetics and ability to connect clients with genetic counseling and testing (p = .003). Educational modules resulted in significant gains in clinician knowledge on genetic topics (p < .05) and increased self-reported confidence in connecting clients with genetic services. The modules reinforced the belief that genetic testing is beneficial for patients at increased risk (p = .001) and is important to inform subsequent medical management (p = .027). While building community clinicians' capacity to connect clients with genetic services is crucial, it is challenged by knowledge and confidence gaps in discussions of genetic services with clients. Consistent genetic-focused education with non-genetic clinicians can improve confidence and knowledge, enabling a more effective screening program in community health settings.

Population prevalence of individuals meeting criteria for hereditary breast and ovarian cancer testing.

BACKGROUND: Personal cancer diagnosis and family cancer history factor into which individuals should undergo genetic testing for hereditary breast and ovarian cancer (HBOC) syndrome. Family history is often determined in the research setting through kindreds with disease clusters, or clinically from self-report. The population prevalence of individuals with diagnostic characteristics and/or family cancer history meeting criteria for HBOC testing is unknown. METHODS: Utilizing Surveillance, Epidemiology, and End Results (SEER) cancer registry data and a research resource linking registry records to genealogies, the Utah Population Database, the population-based prevalence of diagnostic and family history characteristics meeting National Comprehensive Cancer Network (NCCN) criteria for HBOC testing was objectively assessed. RESULTS: Among Utah residents with an incident breast cancer diagnosis 2010-2015 and evaluable for family history, 21.6% met criteria for testing based on diagnostic characteristics, but the proportion increased to 62.9% when family history was evaluated. The proportion of cases meeting testing criteria at diagnosis was 94% for ovarian cancer, 23% for prostate cancer, and 51.1% for pancreatic cancer. Among an unaffected Utah population of approximately 1.7 million evaluable for family history, 197,601 or 11.6% met testing criteria based on family history. CONCLUSIONS: This study quantifies the population-based prevalence of HBOC criteria using objectively determined genealogy and cancer incidence data. Sporadic breast cancer likely represents a portion of the high prevalence of family cancer history seen in this study. These results underline the importance of establishing presence of a deleterious mutation in an affected family member, per NCCN guidelines, before testing unaffected relatives.