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Background: Most relatives of women with ovarian cancer are unaware of their increased risk for cancer and their eligibility for genetic counseling. State cancer registries offer a platform to communicate about inherited risk to this population., Methods: We conducted a two-arm randomized trial to test a theory-based communication intervention-Your Family Connects (YFC)-compared to the standard Georgia Cancer Registry (GCR) contact. A total of 1,938 eligible ovarian cancer survivors were randomly assigned to either the YFC arm (n = 969) or the Standard Care arm (n = 969). We assessed the number of ovarian cancer survivors and their close relatives who logged on to the study website by arm., Results: Survivor reach was significantly higher in the Standard Care arm than YFC (20.8% vs. 15.2%, respectively; P < 0.001). However, reach to relatives was limited to listed relatives in the YFC arm (n = 20, 13.2%), with little participation from those in the Standard Care arm (n = 1, 0.4%). Pooling across arms, minority race, longer time since diagnosis, and older age were all significantly associated with a decreased likelihood that the survivor accessed the website., Conclusions: The YFC intervention showed lower effectiveness for engaging survivors but was more effective than Standard Care in engaging at-risk relatives. Other factors (e.g., time since diagnosis) associated with lower reach must be considered in refining future outreach approaches., Impact: Partnering with a state cancer registry to foster family communication about inherited cancer risk is feasible but the possibility for broad population reach warrants further testing., (©2024 The Authors; Published by the American Association for Cancer Research.)

Background: Multigene panel testing is an important component of cancer treatment plans and risk assessment, but there are many different panel options and choosing the most appropriate panel can be challenging for health care providers and patients. Electronic tools have been proposed to help patients make informed decisions about which gene panel to choose by considering their preferences and priorities., Materials and Methods: An electronic decision aid (DA) tool was developed in line with the International Patient Decision Aids Standards collaboration. The multidisciplinary project team collaborated with an external health care communications agency and the MGH Cancer Center Patient and Family Advisory Council (PFAC) to develop the DA. Surveys of genetic counselors and patients were used to scope the content, and alpha testing was used to refine the design and content., Results: Surveys of genetic counselors (n = 12) and patients (n = 228) identified common themes in discussing panel size and strategies for helping patients decide between panels and in identifying confusing terms for patients and distribution of patients' choices. The DA, organized into 2 major sections, provides educational text, graphics, and videos to guide patients through the decision-making process. Alpha testing feedback from the PFAC (n = 4), genetic counselors (n = 3) and a group of lay people (n = 8) identified areas to improve navigation, simplify wording, and improve layout., Conclusion: The DA developed in this study has the potential to facilitate informed decision-making by patients regarding cancer genetic testing. The distinctive feature of this DA is that it addresses the specific question of which multigene panel may be most suitable for the patient. Its acceptability and effectiveness will be evaluated in future studies., (© The Author(s) 2024. Published by Oxford University Press.)

Importance: Requiring personalized genetic counseling may introduce barriers to cancer risk assessment, but it is unknown whether omitting counseling could increase distress., Objective: To assess whether omitting pretest and/or posttest genetic counseling would increase distress during remote testing., Design, Setting, and Participants: Making Genetic Testing Accessible (MAGENTA) was a 4-arm, randomized noninferiority trial testing the effects of individualized pretest and/or posttest genetic counseling on participant distress 3 and 12 months posttest. Participants were recruited via social and traditional media, and enrollment occurred between April 27, 2017, and September 29, 2020. Participants were women aged 30 years or older, English-speaking, US residents, and had access to the internet and a health care professional. Previous cancer genetic testing or counseling was exclusionary. In the family history cohort, participants had a personal or family history of breast or ovarian cancer. In the familial pathogenic variant (PV) cohort, participants reported 1 biological relative with a PV in an actionable cancer susceptibility gene. Data analysis was performed between December 13, 2020, and May 31, 2023., Intervention: Participants completed baseline questionnaires, watched an educational video, and were randomized to 1 of 4 arms: the control arm with pretest and/or posttest genetic counseling, or 1 of 3 study arms without pretest and posttest counseling. Genetic counseling was provided by phone appointments and testing was done using home-delivered saliva kits., Main Outcomes and Measures: The primary outcome was participant distress measured by the Impact of Event Scale 3 months after receiving the results. Secondary outcomes included completion of testing, anxiety, depression, and decisional regret., Results: A total of 3839 women (median age, 44 years [range 22-91 years]), most of whom were non-Hispanic White and college educated, were randomized, 3125 in the family history and 714 in the familial PV cohorts. In the primary analysis in the family history cohort, all experimental arms were noninferior for distress at 3 months. There were no statistically significant differences in anxiety, depression, or decisional regret at 3 months. The highest completion rates were seen in the 2 arms without pretest counseling., Conclusions and Relevance: In the MAGENTA clinical trial, omitting individualized pretest counseling for all participants and posttest counseling for those without PV during remote genetic testing was not inferior with regard to posttest distress, providing an alternative care model for genetic risk assessment., Trial Registration: ClinicalTrials.gov Identifier: NCT02993068.

Cascade testing for familial cancer syndromes has historically been difficult to execute. As part of a facilitated cascade testing pathway, we evaluated barriers to completion of cascade testing. Our previously published study evaluated a facilitated cascade testing pathway whereby a genetics team facilitated at-risk relative (ARR) cascade testing through telephone genetic counseling and mailed saliva kit testing. This follow-up study evaluated barriers to completion of cascade genetic testing through six-month follow-up telephone interviews. Probands identified 114 ARRs, of whom 97 were successfully contacted by telephone. Among those contacted, 83 (86%) reported interest in genetic testing and 14 (14%) declined. Among those reporting interest in testing, 71% (69/83) completed testing. Follow-up telephone interviews revealed that 14 ARRs did not complete testing despite reporting interest for the following reasons: concern about genetic discrimination, fear of a positive result and belief that the pathogenic variant was not relevant to his/her health. Five ARRs reported that they remained interested in testing and the telephone call prompted completion of testing. Even when facilitated by a medical team with prioritization of relative convenience, significant barriers to cascade testing ARRs for hereditary breast and ovarian cancer syndrome persist due to concern about genetic discrimination, cost, and fear of positive test results., (© 2022. The Author(s), under exclusive licence to Springer Nature B.V.)

We conducted a survey to evaluate the awareness of genetic counseling and testing for hereditary gynecologic cancers among Korean healthcare providers. We performed an on-the-spot survey using 29 questions on respondents' basic information, awareness of pre/post-test genetic counseling, genetic information management, and related social issues. We surveyed healthcare providers who attended the 2019 Hereditary Gynecologic Cancer Symposium organized by the Korean Society of Gynecologic Oncology. Of the 108 attendees, 85 (78.7%) participated in the survey. Among them, 45% (37/83) and 40% (33/83) did not have a separate clinic and had a dedicated team for genetic counseling in their institutions, respectively. Most respondents (60/76, 79%) recommended genetic testing for all women diagnosed with epithelial ovarian cancer. Many respondents simultaneously (20/85, 24%) or sequentially (45/85, 53%) tested for both pathogenic somatic and germline variants, whereas a few respondents (2/85, 2%) checked for only pathogenic somatic variants using tissue samples. Only 20% (17/85) of the respondents recommended genetic testing for all women with endometrial cancer; meanwhile, 68% (58/86) offered the test based on the results of the screening test or family history. Risk-reducing salpingo-oophorectomy was recommended to unaffected women with pathogenic BRCA1/2 variants by 69.4% of the respondents (59/85). Most respondents (73/85, 85.9%) needed a manual on bioethics law; a few required a clinical update of hereditary cancer (73/85, 85.9%). The awareness of genetic counseling and testing and the pattern of clinical practice for hereditary gynecologic cancers differ among institutions and regions in Korea. A discussion on these issues and the development of an integrated manual for healthcare providers are required., (© 2021 National Society of Genetic Counselors.)

Objective: To determine the feasibility of hospital-based genetic counseling and testing (GC/T) Traceback for Ovarian Cancer (OC) patients, as proposed by the Division of Cancer Prevention and the Division of Cancer Control and Population Sciences, National Cancer Institute., Methods: Living patients with OC were sent a letter explaining the availability of guideline-supported GC/T for at least BRCA1/2 and surrogates of deceased patients were called on the telephone. Outcomes of contact attempts were systematically recorded and statistically described., Results: 598 Traceback-eligible OC patients diagnosed from 2006 to 2016 were identified (163 presumed-living and 435 deceased). Two living patients called our office and scheduled an appointment for GC/T after receiving a letter. For surrogates of prior patients, successful contact occurred in 25% of call attempts. Fourteen individuals (2 living patients and 12 surrogates) underwent genetic counseling. Of those 14, 10 individuals consented to genetic testing and 5 followed through with sample collection. None of these individuals had pathogenic variants (PVs). When surrogate call notes were reviewed, 58% reflected positive responses to contact, however 42% were noted to have negative or indifferent responses, which were most common among spouses. Total time spent for hospital-based Traceback was 109 h., Conclusions: Overall, hospital-based Traceback via letter and telephone contact of surrogates is time-intensive and results in minimal uptake of GC/T. To practically execute this type of outreach program, health systems should consider collection of alternative contact information to allow for electronic communication of patient surrogates. Our study also underscores the importance of timely GC/T while patients are in active cancer care., (Copyright © 2021 Elsevier Inc. All rights reserved.)

Objective: Identify predisposing, enabling, and reinforcing factors impacting genetic counseling/testing among ovarian cancer patients guided by Green and Kreuter's PRECEDE-PROCEED model., Methods: Gynecologic oncology providers (N = 4), genetic counselors (N = 4), and ovarian cancer patients (N = 9) completed semi-structured qualitative interviews exploring participants' knowledge of and experiences with genetic counseling/testing. Interviews were audio recorded, transcribed verbatim, and analyzed using inductive content analysis by two independent raters., Results: Thematic analysis identified predisposing, enabling, and reinforcing factors impacting referral for and uptake of genetic counseling/testing. Predisposing factors included participant's knowledge, beliefs, and attitudes related to genetic counseling/testing. Both patients and providers also cited that insurance coverage and out-of-pocket cost are major concerns for ovarian cancer patients considering genetic testing. Finally, both patients and providers emphasized that genetic counseling/testing would provide additional information to an ovarian cancer patient. While providers emphasized that genetic testing results were useful for informing a patient's personal treatment plan, patients emphasized that this knowledge would be beneficial for their family members., Conclusion: Barriers to genetic testing for ovarian cancer patients exist at multiple levels, including the patient (e.g., knowledge, attitudes), the provider (e.g., workload, availability of services), the institution (e.g., difficulty with referrals/scheduling), and the healthcare system (e.g., insurance/cost). Interventions aiming to increase genetic testing among ovarian cancer patients will likely need to target multiple levels of influence. Future quantitative studies are needed to replicate these results. This line of work will inform specific multilevel intervention strategies that are adaptable to different practice settings, ultimately improving guideline concordant care.

Purpose: Because BRCA1 is a high-risk breast/ovarian cancer susceptibility gene, BRCA1 sequence variants of uncertain clinical significance (VUS) complicate genetic counseling. As most VUS are rare, reliable classification based on clinical and genetic data is often impossible. However, all pathogenic BRCA1 variants analyzed result in defective homologous recombination DNA repair (HRR). Thus, BRCA1 VUS may be categorized based on their functional impact on this pathway., Experimental Design: Two hundred thirty-eight BRCA1 VUS-comprising most BRCA1 VUS known in the Netherlands and Belgium-were tested for their ability to complement Brca1- deficient mouse embryonic stem cells in HRR, using cisplatin and olaparib sensitivity assays and a direct repeat GFP (DR-GFP) HRR assay. Assays were validated using 25 known benign and 25 known pathogenic BRCA1 variants. For assessment of pathogenicity by a multifactorial likelihood analysis method, we collected clinical and genetic data for functionally deleterious VUS and VUS occurring in three or more families., Results: All three assays showed 100% sensitivity and specificity (95% confidence interval, 83%-100%). Out of 238 VUS, 45 showed functional defects, 26 of which were deleterious in all three assays. For 13 of these 26 variants, we could calculate the probability of pathogenicity using clinical and genetic data, resulting in the identification of 7 (likely) pathogenic variants., Conclusions: We have functionally categorized 238 BRCA1 VUS using three different HRR-related assays. Classification based on clinical and genetic data alone for a subset of these variants confirmed the high sensitivity and specificity of our functional assays., (©2020 American Association for Cancer Research.)

Background: Lower socioeconomic status is strongly associated with decreased perception of cancer risk. Fewer low socioeconomic status women than expected currently access cancer genetic services from which they may benefit., Patients and Methods: We screened women presenting for a screening mammogram at a safety net academic hospital using the Breast Cancer Genetics Referral Screening Tool Version 3.0 (B-RST TM ), an online tool designed to identify individuals potentially at risk for hereditary breast and ovarian cancer. Participants screening either positive (high risk) or negative (moderate risk) were offered genetic counseling appointments. We used a brief survey to evaluate change in risk perception before and after using B-RST TM , and after a genetic counseling appointment, if applicable. Barriers to accepting appointments were assessed when participants declined., Results: Of the 126 participants, 91 (72.2%) screened negative-average risk, 13 (10.3%) screened negative-moderate risk, and 22 (17.5%) screened positive. Of those who screened positive or negative-moderate, 24 (68.6%) expressed interested in a genetic counseling appointment, of which 19 (79.2%) scheduled. Four of the 19 scheduled (21.1%) completed the appointment. We found a significant difference in the number who rated their breast cancer risk correctly on the post-test between the groups who self-rated as low, moderate, or high risk. Those who perceived themselves as high risk were the most likely to rate their risk correctly on the post-test (P < .001)., Conclusion: We showed that using B-RST TM in a safety net academic hospital was effective at identifying women at increased risk for hereditary breast and ovarian cancer., (Copyright © 2019 Elsevier Inc. All rights reserved.)

Systemic healthcare issues and geographical challenges restrict women's access to BRCA1/2 testing to inform the use of tailored treatments for high-grade serous ovarian cancer. Consequently, BRCA1/2 testing in this population is low and improved testing pathways are urgently needed. This study aimed to determine the acceptability and feasibility of telephone genetic counselling (TGC) to facilitate treatment-focused BRCA1/2 testing in Australia for women with high-grade serous ovarian cancer. Women who received TGC were invited to complete a survey examining their experiences of the service. A cost analysis was conducted to compare the service to standard, in-person genetic counselling. One hundred and seven women responded (48% response rate); 8 had a BRCA1/2 variant affecting function. Geographical barriers prevented women from accessing genetic services in the past. All participants had a positive attitude towards testing, and regret following testing was minimal. While the impact of testing was greater for those with a positive test result, overall, genetic testing did not put the additional psychosocial burden on the participants. Participant's evaluations of the telephone interactions with the genetic counsellors were highly satisfactory. The service was also found to be cost-effective. This model of telephone genetic counselling was an acceptable and effective way to reduce barriers to BRCA1/2 testing for women with ovarian cancer.

Background: Female BRCA1 and BRCA2 mutation carriers have an increased lifetime risk of developing breast and/or ovarian cancer. Hence, they face the difficult decision of choosing a preventive strategy such as risk-reducing surgeries or intensified breast screening. To help these women during their decision process, several patient decision aids (DA) were developed and evaluated in the last 15 years. Until now, there is no conclusive evidence on the effectiveness of these DA. This study aims 1) to provide the first systematic literature review about DA addressing preventive strategy decisions for female BRCA1 and BRCA2 mutation carriers, 2) to analyze the quality of the existing evidence, 3) to evaluate the effects of DA on decision and information related outcomes, on the actual choice for preventive measure and on health outcomes., Methods: A systematic literature review was conducted using six electronic databases (inclusion criteria: DA addressing preventive strategies, female BRCA1 and BRCA2 mutation carriers, 18 to 75 years, knowledge of test result). The quality of the included randomized controlled trials (RCT) was evaluated with the Cochrane Collaboration's risk of bias tool. The quality of included one-group pretest-posttest design studies was evaluated with the ROBINS-I tool. Outcomes of included studies were extracted and qualitatively summarized., Results: A total of 2093 records were identified. Six studies were included for further evaluation (5 RCT, 1 one-group pretest-posttest design study). One RCT was formally included, but data presentation did not allow for further analyses. The risk of bias was high in three RCT and unclear in one RCT. The risk of bias in the one-group pretest-posttest study was serious. The outcome assessment showed that the main advantages of DA are linked to the actual decision process: Female BRCA1 and BRCA2 mutation carriers using a DA had less decisional conflict, were more likely to reach a decision and were more satisfied with their decision., Conclusions: Decision aids can support female BRCA1 and BRCA2 mutation carriers during their decision process by significantly improving decision related outcomes. More high-quality evidence is needed to evaluate possible effects on information related outcomes, health outcomes and the actual choice for preventive measures.

Background: Studies have consistently indicated that the majority of individuals meeting the US Prevention Services Task Force guidelines for genetic testing have not had genetic counseling or testing. Despite increased availability and lower costs of multiplex cancer gene panels, there remains a gap in genetics services that has not been addressed by the current care delivery models. Lower cost of DNA sequencing with online patient-initiated ordering could increase test availability, but the ideal quantity and delivery method of patient education is not known. We hypothesized that online genetic education and testing with access to board certified genetic counselors could improve access to genetic testing while maintaining test quality and clinical utility. The MAGENTA (MAking GENetic Testing Accessible) trial is a nationwide randomized study designed to compare the effectiveness of online genetic education with pre- and post-test telephone genetic counseling to three potentially more accessible alternative approaches: online genetic education with optional telephone counseling, online genetic education with required pre-test telephone genetic counseling, and online genetic education with required post-test telephone genetic counseling., Methods: 3000 women nationwide will undergo genetic testing for 19 hereditary cancer genes. This is a randomized four-arm non-inferiority study with equal randomization. The four study arms were selected to independently assess the delivery of genetic information both before and after genetic testing (pre-test and post-test) by either requiring telephone genetic counseling or providing only online education with optional telephone counseling. Patients have post-test telephone counseling when testing positive for a pathogenic inherited mutation in all four arms. Surveys measuring psychological, behavioral and cognitive state are completed online at baseline, 3 months, 12 months and 24 months post-results disclosure. The primary study outcome is cancer-risk distress at 3 months post-result disclosure., Discussion: This trial will assess the use of a genetic service model using online access and electronic education, while evaluating the need for personal pre- and post-test genetic counseling. Data from this study may lead to increased options for delivery of genetic testing and possibly increase access to genetic testing. Identifying more individuals with inherited cancer susceptibility will allow targeted cancer prevention., Trial Registration: Clinicaltrials.gov: NCT02993068 (registered December 14, 2016).

Objective: Genetic testing identifies cancer patients who may benefit from targeted treatment and allows for enhanced cancer screening and risk-reduction in their at-risk relatives. Traditional models of genetic counseling (GC) cannot meet the increasing demand and urgency for genetic testing. The objective of this study was to evaluate a new model of service delivery to improve the efficiency of pre-test GC for panel-based genetic testing., Methods: A parallel, two-armed, randomized non-inferiority study compared traditional and modified pre-test GC models (1:2) prior to panel-based genetic testing. Participants were adult females, whose first-degree relative died of serous ovarian cancer. In the modified group, participants were emailed a 20-minute presentation prior to a scheduled pre-test GC telephone call. Psychosocial and knowledge questionnaires were provided at baseline (P1) and one week after pre-test GC (P2)., Results: 382 women completed pre-test GC (256 modified, 126 traditional). There were no differences in marital status, education level or household income. Pre-test GC time was shorter in the modified group (average 19 vs. 46 min, p < 0.001), with no difference in post-test GC time (average 16 min each, p = 0.78). The modified pre-test GC model was found to be non-inferior to traditional GC on measures of cancer-specific distress, depression, anxiety, decisional conflict, ovarian cancer knowledge and satisfaction. Perceived lifetime risk for ovarian cancer decreased to a lesser extent from baseline in women who received modified pre-test GC., Conclusions: A 20-minute presentation prior to pre-test telephone GC is non-inferior to traditional in-person GC on all variables tested, except for perceived ovarian cancer risk. This modified model improved GC efficiency without negatively affecting psychosocial outcomes, providing an alternative strategy to meet the growing demand for genetic testing., (Copyright © 2019 Elsevier Inc. All rights reserved.)

Fifteen per cent of women with epithelial ovarian cancer possess inherited mutations in the BRCA genes. Knowledge of her BRCA status is important to her and her family. Poly(ADP-ribose) polymerase (PARP) inhibitors provide a new therapeutic option for her. For her family it provides the opportunity for the prevention of what otherwise is often a lethal disease. To access these opportunities, the mandatory first step is testing the woman with the cancer. However, referral rates for genetic counselling and subsequent BRCA testing are low, in the of 10-30% range. The current paradigm needs the patient to be referred to genetics, be counselled and then undergo testing. Such an ad hoc process will never be 100% successful. Removing the human element by using reflex tumour testing as part of the routine pathological analysis is an obvious solution. Now 100% of women carrying mutations will be identified. Subsequent testing within the family would identify all the carriers, who would then be eligible for risk-reducing surgery. The current process for this is also flawed, with significant drop off at each stage, as it involves the woman with epithelial ovarian carcinoma and a mutation providing the information to her family who then in turn need to be referred or make an appointment for genetic counselling/testing and then, finally, if carrying the mutation, make a decision about risk-reducing surgery. Process improvements and education can help to diminish these roadblocks. The relevant available literature has been reviewed in order to provide an extensive overview of this broad topic with actual rates of counselling/testing at each step, the uptake of risk-reducing surgery and some solutions to make the process more effective. The value of PARP inhibitors and surgical prevention are also discussed, but in a more condensed format., (Copyright © 2018 The Royal College of Radiologists. Published by Elsevier Ltd. All rights reserved.)

Objective: Genetic counseling and testing can be offered to individuals who are at high risk of carrying a breast cancer (BRCA) gene mutation. However, the content of genetic counseling could be difficult to understand due to complex medical information. The aim of this study was to investigate if comprehension can be improved with a new genetic counseling tool (NGCT hereafter; a tool that combines complex medical information with pictures, diagrams and tables) as compared to conventional oral-only genetic counseling (CGC)., Methods: 207 clients attended genetic counseling for hereditary breast and ovarian cancer at the Medical University of Vienna between February 2015 and February 2016. Seventy clients participated in this study and were allocated into two groups: the first 36 participants received conventional (oral only) genetic counseling (CGC) and the following 34 participants received genetic counseling using a new genetic counseling tool (NGCT), which combines complex information with pictures, diagrams and tables. After genetic counseling, all consenting participants were invited to complete a questionnaire with seven questions evaluating their comprehension of the medical information provided., Results: Socio-demographic backgrounds were comparable in both groups. Correct responses were significantly higher in the NGCT group compared to the CGC group (p = 0.012). NGCT also statistically improves correct response of Q1 (p = 0.03) and Q7 (p = 0.004)., Conclusion: The NGCT leads to an overall better understanding of the content of a genetic counseling session than CGC alone., Competing Interests: The authors have declared that no competing interests exist.

One of the main challenges in cancer genetics is responding to the exponential demand for genetic counseling, especially in patients with breast and/or ovarian cancer. To address this demand, we have set up a new procedure, based on pre-genetic counseling telephone interviews (PTI) followed by routing of patients: D1, a PTI is scheduled within 14 days; D7-D14, genetic counselors perform a 20 min PTI in order to establish a pre-genetic counseling file, by collecting personal and family medical history via a structured questionnaire and; D10-17, routing: pre-genetic counseling appointment files are analyzed by a cancer geneticist with 3 possible conclusions: (a) priority face-to-face genetic counseling (FTFGC) appointment with a cancer geneticist, if the genetic test results have an immediate therapeutic impact; (b) non-priority FTFGC with a genetic counselor, or (c) no FTFGC required or substitution by a more appropriate index case. In the context of breast and/or ovarian cancer, 1012 patients received PTIs, 39.1% of which did not lead to FTFGC. The mean delay for non-priority FTFGC was maintained at 18 weeks and priority FTFGC appointments were guaranteed within 8 weeks. The required resources for 1012 patients was estimated at 0.12 FTE secretaries, 0.62 FTE genetic counselors and 0.08 FTE cancer geneticists and the procedure was shown to be cost-effective. This new procedure allows the suppression of up to 1/3 of appointments, guarantees priority for appointments with therapeutic impact and optimizes the interaction and breakdown of tasks between genetic counselors and cancer geneticists.

Objective: The National Comprehensive Cancer Network recommends all women with ovarian cancer be offered genetic testing. Despite a decade of endorsement, many oncology practitioners have yet to make this a part of routine practice. Referral to genetic counseling and completion of genetic testing among patients at substantial risk of germline mutations are significantly lacking, adversely affecting patient care and squandering an opportunity to maximize cancer prevention efforts. This project determined the impact and feasibility of implementing a basic model for universal referral to genetic counseling and completion of genetic testing in women with a diagnosis of ovarian cancer in an academic gynecology oncology practice with access to electronic health records (EHRs)., Methods: Patients diagnosed with ovarian cancer from January 2008 to November 2013 were retrospectively reviewed to determine the baseline referral rate for genetic counseling and testing completion in our practice. Implementation of a process change model combining provider training, patient education, enhanced electronic health record documentation and improved patient appointment scheduling strategies were implemented. We then prospectively collected data on all newly diagnosed ovarian cancer patients that had not already undergone genetic testing presenting from December 1, 2013 to November 30, 2016., Results: Genetic referral rates, genetic counseling and testing completion rates were markedly improved. Pre-implementation our genetic testing rate was 27% and post implementation our testing rate was 82% (p-value≤0.001)., Conclusions: Low cost interventions that target education of both providers and patients regarding the importance of genetic testing along with utilization of the EHR and streamlined patient appointment services can significantly increase rates of genetic testing completion., (Copyright © 2018 Elsevier Inc. All rights reserved.)

Objective: To increase genetic counseling referrals for patients with newly diagnosed epithelial ovarian cancer (EOC)., Methods: A practice-gap analysis was performed after measuring baseline genetic counseling referral rates to identify barriers to referral from the multidisciplinary single institution EOC care group. A Genetics Referral Toolkit consisting of a referral template, a genetic risk checklist, family history worksheet and provider and patient awareness was developed to address identified gaps with the goal of increasing referral rates. Clinical characteristics, referral placement, completion of genetic counseling/testing were abstracted for a historic cohort and intervention cohort. Data for the two cohorts were compared using chi-square, Fisher's exact test, or t-test. Association with referral was determined by univariate logistic regression., Results: Eighty one patients from July through December 2013 (historic cohort) and 62 patients from July through December 2015 (intervention cohort) were identified as having a new diagnosis of EOC. Among these women, genetic counseling referral rates increased from 48.1% (39/81) in 2013 to 74.2% (46/62) in 2015 (p=0.002) after implementation of the toolkit. In a subset of patients without a previous genetic counseling referral, 87.9% (29/33) completed counseling and 79.3% (23/29) pursued testing from the historic cohort. In the intervention cohort, 60% (24/40) were seen for counseling and 100% (24/24) had testing., Conclusion: Application of a quality improvement process to create a Genetics Referral Toolkit increased the genetic counseling referral rate in patients with a new diagnosis of EOC. The majority of patients who were referred completed genetics consultation and elected genetic testing., (Copyright © 2018 Elsevier Inc. All rights reserved.)

Multi-gene panel testing has expanded the genetic information available to cancer patients. The objective was to assess provider behaviors and attitudes and patient knowledge and attitudes towards genetic counseling and testing. An online survey was distributed to Society of Gynecologic Oncology members and a written questionnaire was administered to patients diagnosed with epithelial ovarian cancer at a tertiary care referral center. Most of the 233 (18% response rate) provider respondents were gynecologic oncologists. Access to a genetic counselor was reported by 87% of providers and 55% deferred all testing to genetic counselors. Of 53 ovarian cancer patient respondents, two-thirds had previously seen a genetic counselor or undergone testing. Patients' attitudes about genetic counseling and/or testing were favorable with respect to themselves (70-81%) and their family members (94%). Less than 25% of patients indicated worrying about health care discrimination, lack of privacy, or high cost. Seventy-seven percent of patients demonstrated a desire to obtain genetic information even if the results were not currently actionable, and 20% of providers stated they test for only those genes with guideline-supported actionable results. Provider practice differences were identified in screening and prevention strategies for patients with deleterious non-BRCA mutations and variants of uncertain significance. The variation in clinical interpretation of results associated with poorly defined cancer risks signals a need for more comprehensive training and guidelines to ensure access to evidence-based care.

In December 2014, the FDA approved olaparib, a poly(ADP-ribose) polymerase inhibitor (PARPi) for ovarian cancer patients who have failed three or more lines of chemotherapy and have a germline BRCA1/2 mutation identified through a companion diagnostic test (BRACAnalysis CDx™ (CDx™)) offered exclusively by Myriad Genetic Laboratories. This study explored the impact of PARPi/CDx™ on genetic counselors' (GCs) counseling and testing practices. One hundred twenty three GCs responded to an online survey regarding pre- and post-FDA approval referral patterns, testing strategies/influences, and anecdotal experiences with insurance coverage of PARPi for BRCA1/2 positive patients through a non-CDx™ platform. Following PARPi approval, 40% of respondents reported an increase in overall referrals of ovarian cancer patients and 20% had an increase in post-test counseling only referrals. The majority (61.9%) of respondents reported no change in genetic testing strategy, and there was no change in factors influencing choice of testing laboratory. Nearly all (98.1%) respondents who had experience with insurance covering PARPi indicated approval with mutations identified via non-CDx™ testing. Respondents indicated an increase in referral volume following FDA approval of PARPi/CDx™, but did not report changes in testing practices. Respondents were not aware of PARPi insurance coverage denial in the absence of CDx™.

Background: This study evaluates predictors of BRCA1/ 2 testing among breast and ovarian cancer survivors who received genetic counseling as part of a randomized trial and evaluates moderators of counseling mode on testing uptake. Methods: Predictors of BRCA1/2 testing within one year postcounseling were evaluated using multivariable logistic regression in a population-based sample of breast and ovarian cancer survivors at increased hereditary risk randomly assigned to in-person counseling (IPC; n = 379) versus telephone counseling (TC; n = 402). Variables that moderated the association between counseling mode and testing were identified by subgroup analysis. Results: Testing uptake was associated with higher perceived comparative mutation risk [OR = 1.32; 95% confidence interval (CI), 1.11-1.57] in the adjusted analysis. Those without cost barriers had higher testing uptake (OR = 18.73; 95% CI, 7.09-49.46). Psychologic distress and perceived comparative mutation risk moderated the effect of counseling and testing. Uptake between IPC versus TC did not differ at low levels of distress and risk, but differed at high distress (26.3% TC vs. 44.3% IPC) and high perceived comparative risk (33.9% TC vs. 50.5% IPC). Conclusions: Cost concerns are a strong determinant of testing. Differences in testing uptake by counseling mode may depend on precounseling distress and risk perceptions. Impact: Cost concerns may contribute to low testing in population-based samples of at-risk cancer survivors. Precounseling psychosocial characteristics should be considered when offering in-person versus telephone counseling. Cancer Epidemiol Biomarkers Prev; 26(12); 1772-80. ©2017 AACR ., (©2017 American Association for Cancer Research.)

Ethical issues arise for genetic counselors when a client fails to disclose a genetic diagnosis of hereditary disease to family: they must consider the rights of the individual client to privacy and confidentiality as well as the rights of the family to know their genetic risk. Although considerable work has addressed issues of non-disclosure from the client's perspective, there is a lack of qualitative research into how genetic counselors address this issue in practice. In this study, a qualitative approach was taken to investigate whether genetic counselors in Australia use a relational approach to encourage the disclosure of genetic information from hereditary breast and ovarian cancer (HBOC) clients among family members; and if so, how they use it. Semi-structured qualitative interviews were conducted with 16 genetic counselors from selected states across Australia. Data collection and analysis were guided by a basic iterative approach incorporating a hybrid methodology to thematic analysis. The findings provide indicative evidence of genetic counselors employing a relational approach in three escalating stages--covert, overt and authoritative--to encourage the disclosure of genetic information. The findings lend credence to the notion that genetic counselors envision a form of relational autonomy for their clients in the context of sharing genetic information, and they depart from individualistic conceptions of care/solely client-centered counseling when addressing the needs of other family members to know their genetic status.

Purpose: Advances in genetics and increased public awareness increased the demand for interdisciplinary genetic outpatient consultation (IOGC). Communicating cancer risk is complex, and ideally information transfer should be individualized. Although psychological experiences with genetic testing have been studied in detail, studies on long-term experiences with IOGC and information transfer are lacking. We assessed patients' understanding and satisfaction with IOGC in families at risk of hereditary breast and ovarian cancer (HBOC) with the aim of informing best clinical practice, improving compliance and informed decision-making., Methods: Female counselees referred for IOGC between July 1, 2009 and July 1, 2011 were eligible. Data were collected using a 47-item postal questionnaire to assess sociodemographic, psychological, behavioral parameters. Overall satisfaction and personal usefulness of IOGC were assessed with a five-point, and risk perception with a visual analog scale. Data were analyzed using Spearman rank, Wilcoxon U or Chi-squared test., Results: 612 (72 %) of 849 women participated reported being highly satisfied (75 %, n = 430) and declared personal usefulness (73 %, n = 421) on average 3.5 years after IOGC. Women deemed "high risk" assessed their risk of developing BC as significantly higher than non-high-risk counselees (3.2 versus 3.0, p = 0.00484). Risk perception was lower in BRCA1/2 mutation carriers than in women with unclassified variants or no mutation (2.8 versus 3.5 and 3.1, respectively)., Conclusion: Women with an HBOC background have additional needs to achieve long-term satisfaction after IOGC. Prospective studies are required to optimize care for the increasing number of people who seek genetic consultation, particularly as the complexity of genetics knowledge increases.

Telephone genetic counseling (TC) for high-risk women interested in BRCA1/2 testing has been shown to yield positive outcomes comparable to usual care (UC; in-person) genetic counseling. However, little is known about how genetic counselors perceive the delivery of these alternate forms of genetic counseling. As part of a randomized trial of TC versus UC, genetic counselors completed a 5-item genetic counselor process questionnaire (GCQ) assessing key elements of pre-test sessions (information delivery, emotional support, addressing questions and concerns, tailoring of session, and facilitation of decision-making) with the 479 female participants (TC, N = 236; UC, N = 243). The GCQ scores did not differ for TC vs. UC sessions (t (477) = 0.11, p = 0.910). However, multivariate analysis showed that participant race/ethnicity significantly predicted genetic counselor perceptions (β = 0.172, p < 0.001) in that the GCQ scores were lower for minorities in TC and UC. Exploratory analyses suggested that GCQ scores may be associated with patient preference for UC versus TC (t (79) = 2.21, p = 0.030). Additionally, we found that genetic counselor ratings of session effectiveness were generally concordant with patient perceptions of the session. These data indicate that genetic counselors perceive that key components of TC can be delivered as effectively as UC, and that these elements may contribute to specific aspects of patient satisfaction. However, undefined process differences may be present which account for lower counselor perceptions about the effectiveness of their sessions with minority women (i.e., those other than non-Hispanic Whites). We discuss other potential clinical and research implications of our findings., Competing Interests: Ms. Jacobs, Dr. Valdimarsdottir, Ms. DeMarco, Ms. Heinzmann, Ms. McKinnon, Ms. Davis, Ms. Lebensohn, Dr. Graves, Ms. Similuk, Mr. Kelly, and Ms. Peshkin declare that they have no conflict of interest. Ms. Nusbaum and Ms. Moglia Tully are employees of GeneDx, a wholly owned subsidiary of BioReference Laboratories, which is a wholly owned subsidiary of Opko Health, Inc.; however, they were employed at one of the study sites when performing all study-related genetic counseling. Dr. Hooker is an employee of NextGxDx, but was employed at Georgetown University when performing study-related genetic counseling. Ms. Dalton is an employee of Ambry Genetics but was employed at Dana-Farber when performing all study-related genetic counseling. Ms. McCormick has received paid compensation from Myriad Genetics. Ms. Forman has received paid compensation from Myriad Genetics and Invitae. Dr. Schwartz serves as an uncompensated member of the Scientific Advisory Board for InformedDNA (St. Petersburg, FL).

Objectives: To determine the effectiveness of a statewide telephone service in identifying low-income women at risk for hereditary breast and ovarian cancer and referring them to free genetic counseling., Methods: From June 2010 through August 2011, eligible callers to California's toll-free breast and cervical cancer telephone service were screened for their family histories of breast and ovarian cancer. High-risk women were identified and called for a baseline survey and randomization to an immediate offer of genetic counseling or a mailed brochure on how to obtain counseling. Clinic records were used to assess receipt of genetic counseling after 2 months., Results: Among 1212 eligible callers, 709 (58.5%) agreed to answer family history questions; 102 (14%) were at high risk (25% Hispanic, 46% White, 10% Black, 16% Asian, 3% of other racial/ethnic backgrounds). Of the high-risk women offered an immediate appointment, 39% received counseling during the intervention period, as compared with 4.5% of those receiving the brochure., Conclusions: A public health approach to the rare but serious risk of hereditary breast and ovarian cancer can be successful when integrated into the efforts of existing safety net organizations.

Identifying germline BRCA pathogenic mutations in patients with ovarian or breast cancer is a crucial component in the medical management of affected patients. Furthermore, the relatives of affected patients can be offered genetic testing. Relatives who test positive for a germline BRCA pathogenic mutation can take appropriate action to prevent cancer or have cancer diagnosed as early as possible for better treatment options. The recent discovery that BRCA pathogenic mutation status can inform treatment decisions in patients with ovarian cancer has led to an increased demand for BRCA testing, with testing taking place earlier in the patient care pathway. New approaches to genetic counselling may be required to meet this greater demand for BRCA testing. This review discusses the need for best practices for genetic counselling and BRCA testing; it examines the challenges facing current practice and looks at adapted models of genetic counselling.

Understanding the medical effect of an ever-growing number of human variants detected is a long term challenge in genetic counseling. Functional assays, based on in vitro or in vivo evaluations of the variant effects, provide essential information, but they require robust statistical validation, as well as adapted outputs, to be implemented in the clinical decision-making process. Here, we assessed 25 pathogenic and 15 neutral missense variants of the BRCA1 breast/ovarian cancer susceptibility gene in four BRCA1 functional assays. Next, we developed a novel approach that refines the variant ranking in these functional assays. Lastly, we developed a computational system that provides a probabilistic classification of variants, adapted to clinical interpretation. Using this system, the best functional assay exhibits a variant classification accuracy estimated at 93%. Additional theoretical simulations highlight the benefit of this ready-to-use system in the classification of variants after functional assessment, which should facilitate the consideration of functional evidences in the decision-making process after genetic testing. Finally, we demonstrate the versatility of the system with the classification of siRNAs tested for human cell growth inhibition in high throughput screening.

Objectives: The objectives of this work were to determine the proportion of eligible patients with ovarian cancer discussed at a gynecologic oncology tumor board who were referred for counseling and BRCA mutation testing; to compare referral rates before genetics attendance at the tumor board to referral rates after genetics attendance; and to ascertain the proportions of women with germline BRCA mutations., Materials and Methods: Eligible cases were identified from the minutes of the weekly Western Australian gynecologic oncology tumor board from July 1, 2013 to June 30, 2015.Patients with ovarian cancer who met eligibility criteria for genetics referral were identified and checked against the records of the genetic services database to ascertain whether a referral was received. Outcomes including attendance for counseling and results of mutation testing were analyzed., Results: Two hundred sixty-one patients were eligible for referral during the 24-month study period. One hundred six patients (40.6%) were referred for counseling and germline mutation testing. Of the eligible patients, 26.7% were referred in the 12 months before genetics attendance at the tumor board compared to 51.7% of the eligible patients in the 12 months after genetics attendance (P ≤ 0.0001). Ninety-seven patients were offered BRCA mutation testing, and 73 underwent testing with 65 results reported to date. Twenty-two patients (33.8 %) tested positive for a germline BRCA mutation., Conclusions: Patients with ovarian cancer had a high rate of BRCA mutations. Attendance of a genetics service at a tumor board was associated with an improved rate of referral of patients for genetic counseling and BRCA mutation testing.

The NCCN Guidelines for Genetic/Familial High-Risk Assessment: Breast and Ovarian provide recommendations for genetic testing and counseling and risk assessment and management for hereditary cancer syndromes. Guidelines focus on syndromes associated with an increased risk of breast and/or ovarian cancer and are intended to assist with clinical and shared decision-making. These NCCN Guidelines Insights summarize major discussion points of the 2015 NCCN Genetic/Familial High-Risk Assessment: Breast and Ovarian panel meeting. Major discussion topics this year included multigene testing, risk management recommendations for less common genetic mutations, and salpingectomy for ovarian cancer risk reduction. The panel also discussed revisions to genetic testing criteria that take into account ovarian cancer histology and personal history of pancreatic cancer., (Copyright © 2016 by the National Comprehensive Cancer Network.)

This is the second article of a two part series about utilizing the life course perspective (LCP) in genetic counseling. Secondary data analysis was conducted on a grounded theory, longitudinal study which provided a wide focus on living with hereditary breast and ovarian cancer (HBOC) risk. The aim of this analysis was to explore the longitudinal data for both the temporal and social context of living with BRCA mutation genetic test results. Sixteen women from two previous studies were interviewed on multiple occasions over an 8 year time period. The LCP was used to direct a thematic analysis of the data. Families experience the consequences of knowing they carry a BRCA1 or BRCA2 gene mutation long after the initial diagnosis. These women's experiences across time reflect the concepts of the LCP and show how life is changed when families know they live with a genetic vulnerability to an adult-onset and potentially life-threatening disease. Different emphases on concepts from the LCP were evident across the different age groups. For example, the group of 40-50 year old women emphasized the concept of linked lives, those in their 30's focused on human agency and women in their 20's were more focused on timing of events. This study helps give direction to healthcare providers counseling women living with a BRCA mutation.

Purpose: Given the implications for clinical care and prevention in identifying a BRCA1/2 mutation, the objective of this study was to determine current BRCA1/2 testing practices in ovarian cancer and to identify future directions., Methods: Two parallel complementary web-based surveys were sent by email to representatives of Gynecologic Cancer InterGroup (GCIG) and to referral centers in countries with and without GCIG membership. Questions posed addressed indications of BRCA1/2 testing for ovarian cancer; the implication of genetic counseling; and prevention strategies employed., Results: Among the GCIG, 22 collaborative groups from 19 countries answered the survey. For the complementary survey, 22 referral centers replied. Findings show criteria to offer germline BRCA1/2 testing are mixed; 55% of GCIG members based testing decisions on histology and, among all respondents the main testing criterion remains family history. Typically, genetic counseling is scheduled prior to the genetic testing; however, if negative, results may not be communicated by the genetic counselor. Time between testing and communicating results varies widely between the groups. Lastly, recommendations to relatives regarding risk reduction surgery are inconsistent., Conclusion: Our study highlights the need for collaborative efforts to devise international guidelines around BRCA1/2 testing in ovarian cancer to ensure consistent BRCA1/2 screening practices are adopted. Clinical practice is evolving rapidly and as BRCA1/2 testing is expected to become more widespread, new approaches are required. Coordinating BRCA1/2 testing practices is crucial in terms of care for the patient diagnosed with ovarian cancer but also towards cancer prevention for affected family members., (Copyright © 2015 Elsevier Inc. All rights reserved.)

Genetic risk prediction models such as BRCAPRO are used routinely in genetic counseling for identification of potential BRCA1 and BRCA2 mutation carriers. They require extensive information on the counselee and her family history, and thus are not practical for primary care. To address this gap, we develop and test a two-stage approach to genetic risk assessment by balancing the tradeoff between the amount of information used and accuracy achieved. The first stage is intended for primary care wherein limited information is collected and analyzed using a simplified version of BRCAPRO. If the assessed risk is sufficiently high, more extensive information is collected and the full BRCAPRO is used (stage two: intended for genetic counseling). We consider three first-stage tools: BRCAPROLYTE, BRCAPROLYTE-Plus, and BRCAPROLYTE-Simple. We evaluate the two-stage approach on independent clinical data on probands with family history of breast and ovarian cancers, and BRCA genetic test results. These include population-based data on 1344 probands from Newton-Wellesley Hospital and mostly high-risk family data on 2713 probands from Cancer Genetics Network and MD Anderson Cancer Center. We use discrimination and calibration measures, appropriately modified to evaluate the overall performance of a two-stage approach. We find that the proposed two-stage approach has very limited loss of discrimination and comparable calibration as BRCAPRO. It identifies a similar number of carriers without requiring a full family history evaluation on all probands. We conclude that the two-stage approach allows for practical large-scale genetic risk assessment in primary care.

This report describes a genetics clinic for hereditary breast and ovarian cancer (HBOC) in an underserved population. Genetic counseling was provided to 151 patients, and 131 underwent BRCA genetic testing. This was a unique, group-based establishment of an HBOC genetics clinic, which to our knowledge had not previously been reported.

Background: Although BRCA1 and BRCA2 mutations account for only ∼27% of the familial aggregation of ovarian cancer (OvC), no OvC risk prediction model currently exists that considers the effects of BRCA1, BRCA2 and other familial factors. Therefore, a currently unresolved problem in clinical genetics is how to counsel women with family history of OvC but no identifiable BRCA1/2 mutations., Methods: We used data from 1548 patients with OvC and their relatives from a population-based study, with known BRCA1/2 mutation status, to investigate OvC genetic susceptibility models, using segregation analysis methods., Results: The most parsimonious model included the effects of BRCA1/2 mutations, and the residual familial aggregation was accounted for by a polygenic component (SD 1.43, 95% CI 1.10 to 1.86), reflecting the multiplicative effects of a large number of genes with small contributions to the familial risk. We estimated that 1 in 630 individuals carries a BRCA1 mutation and 1 in 195 carries a BRCA2 mutation. We extended this model to incorporate the explicit effects of 17 common alleles that are associated with OvC risk. Based on our models, assuming all of the susceptibility genes could be identified we estimate that the half of the female population at highest genetic risk will account for 92% of all OvCs., Conclusions: The resulting model can be used to obtain the risk of developing OvC on the basis of BRCA1/2, explicit family history and common alleles. This is the first model that accounts for all OvC familial aggregation and would be useful in the OvC genetic counselling process., (Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.)

Objective: As treatment based genetic testing becomes a reality, it is important to assess the attitudes and preferences of women newly diagnosed with ovarian cancer regarding genetic testing. The objective of this study was to determine when women with a diagnosis of high grade serous ovarian cancer would prefer to undergo genetic testing and factors that influence this preference., Methods: Women over 18years of age with a known diagnosis of high grade serous ovarian cancer diagnosed between October 2010-2013 were identified via the Princess Margaret Cancer Center Registry. Participants completed a questionnaire, which obtained preferences and attitudes towards genetic testing, cancer history, and demographic information., Results: 120 of the 355 women identified (33.8%) completed the questionnaires. The median age at time of ovarian cancer diagnosis was 57years (range 35-84). The majority of participants in this study were offered (94.6%) and pursued (84.8%) genetic testing. In this cohort, testing was most frequently offered at diagnosis (41.8%) or during treatment (19.1%). In this study, women with high grade serous ovarian cancer felt that genetic testing should be offered before or at the time of diagnosis (67.8%). Having a family history of breast or ovarian cancer was significantly (p=0.012) associated with preferring genetic testing at an earlier time point in the disease course., Conclusions: Our results demonstrate that women with high grade serous ovarian cancer acknowledge the personal and clinical utility of genetic testing and support test implementation at the time of cancer diagnosis., (Copyright © 2015 Elsevier Inc. All rights reserved.)

This observational study aimed to (i) compare the accuracy of information recalled by patients and relatives following genetic counselling about a newly identified BRCA1/2 mutation, (ii) identify differences in accuracy of information about genetics and hereditary cancer and (iii) investigate whether accuracy among relatives improved when information was provided directly by genetics health professionals. Semistructured interviews following results from consultations with 10 breast/ovarian cancer patients and 22 relatives were audio-recorded and transcribed. Information provided by the genetics health professional was tracked through the families and coded for accuracy. Accuracy was analysed using the Wilcoxon Signed-Ranks test. Sources of information were tested using Spearman's rank-order correlation coefficient. Fifty-three percent of the information recalled by patients was accurate. Accuracy of recall among relatives was significantly lower than that among patients (P=0.017). Both groups recalled a lower proportion of information about hereditary cancer than about genetics (P=0.005). Relatives who learnt the information from the patient alone recalled significantly less accurate information than those informed directly by genetics health professionals (P=0.001). Following genetic counselling about a BRCA1/2 mutation, accuracy of recall was low among patients and relatives, particularly about hereditary cancer. Multiple sources of information, including direct contact with genetics health professionals, may improve the accuracy of information among relatives.

Population-based genetic research may produce information that has clinical implications for participants and their family. Researchers notify participants or their next of kin (NoK) about the availability of genetic information via a notification letter; however, many subsequently do not contact a family cancer centre (FCC) to clarify their genetic status. Therefore, the purpose of this study was to examine research participants' experience of receiving a notification letter and the factors that influenced contact with an FCC. Twenty-five semi-structured interviews were conducted with research participants (n=10) or their NoK (n=15) who had received a notification letter following participation in the Australian Ovarian Cancer Study. There were a number of factors which impacted participants' access to genetic counselling at an FCC. Some participants had unmet information and support needs, which were addressed by their participation in this psychosocial interview study. Recruitment and participation in this study therefore inadvertently increased a number of participants' intention to contact an FCC. For others, participation in this study facilitated access to an FCC. Recommendations are proposed regarding future notification as well as implications for clinical practice. An approach that also provides opportunity to address research participants' support and informational needs before contacting a clinical genetics service as well as practical guidance for accessing genetic services would facilitate timely and smooth access for research participants who are interested in following up clinically relevant genetic test results.

Purpose: Although guidelines recommend in-person counseling before BRCA1/BRCA2 gene testing, genetic counseling is increasingly offered by telephone. As genomic testing becomes more common, evaluating alternative delivery approaches becomes increasingly salient. We tested whether telephone delivery of BRCA1/2 genetic counseling was noninferior to in-person delivery., Patients and Methods: Participants (women age 21 to 85 years who did not have newly diagnosed or metastatic cancer and lived within a study site catchment area) were randomly assigned to usual care (UC; n = 334) or telephone counseling (TC; n = 335). UC participants received in-person pre- and post-test counseling; TC participants completed all counseling by telephone. Primary outcomes were knowledge, satisfaction, decision conflict, distress, and quality of life; secondary outcomes were equivalence of BRCA1/2 test uptake and costs of delivering TC versus UC., Results: TC was noninferior to UC on all primary outcomes. At 2 weeks after pretest counseling, knowledge (d = 0.03; lower bound of 97.5% CI, -0.61), perceived stress (d = -0.12; upper bound of 97.5% CI, 0.21), and satisfaction (d = -0.16; lower bound of 97.5% CI, -0.70) had group differences and confidence intervals that did not cross their 1-point noninferiority limits. Decision conflict (d = 1.1; upper bound of 97.5% CI, 3.3) and cancer distress (d = -1.6; upper bound of 97.5% CI, 0.27) did not cross their 4-point noninferiority limit. Results were comparable at 3 months. TC was not equivalent to UC on BRCA1/2 test uptake (UC, 90.1%; TC, 84.2%). TC yielded cost savings of $114 per patient., Conclusion: Genetic counseling can be effectively and efficiently delivered via telephone to increase access and decrease costs.

Background: Little is known about barriers to Hereditary Breast and Ovarian Cancer (HBOC) genetic counseling among Puerto Rican women., Objective: This study reviews existing literature to identify individual, interpersonal, and systems level factors that may impact the use of HBOC genetic services among Puerto Rican women living in the United States., Methods: A systematic search of articles published between the years 1995-2014 was performed in PubMed and ISI Web of Science. Additionally, the bibliography of relevant articles was reviewed for additional potential articles., Results: Individual level barriers most frequently identified included: a lack of knowledge or awareness about HBOC or genetic counseling and testing, and facilitators included high levels of interest in genetic counseling/genetic testing. Interpersonal level barriers included worry about knowing a family member's risk, and conversely, a facilitator was the ability to help family members. Systems level barriers included concerns about the cost, having competing life demands, whereas facilitators included holding private insurance., Conclusion: Puerto Rican women are a unique ethnic minority group with specific perceptions, beliefs and levels of education about genetic counseling and testing for HBOC. Addressing individual, interpersonal and systems level factors unique to this group may improve knowledge and awareness. Policy and structural changes may be needed to improve system level barriers.

Objective: We sought to determine whether prophylactic oophorectomy rates changed after the introduction of a 2007 health plan clinical guideline recommending systematic referral to a genetic counselor for women with a personal or family history suggestive of an inherited susceptibility to breast/ovarian cancer., Methods: We conducted a retrospective cohort study of female members of Group Health, an integrated delivery system in Washington State. Subjects were women aged ≥ 35 years during 2004-2009 who reported a personal or family history consistent with an inherited susceptibility to breast/ovarian cancer. Personal and family history information was collected on a questionnaire completed when the women had a mammogram. We ascertained oophorectomies from automated claims data and determined whether surgeries were prophylactic by medical chart review. Rates were age-adjusted and age-adjusted incidence rate ratios (IRR) and 95% confidence intervals (CI) were computed using Poisson regression., Results: Prophylactic oophorectomy rates were relatively unchanged after compared to before the guideline change, 1.0 versus 0.8/1000 person-years, (IRR=1.2; 95% CI: 0.7-2.0), whereas bilateral oophorectomy rates for other indications decreased. Genetic counseling receipt rates doubled after the guideline change (95% CI: 1.7-2.4) from 5.1 to 10.2/1000 person-years. During the study, bilateral oophorectomy rates were appreciably greater in women who saw a genetic counselor compared to those who did not regardless of whether they received genetic testing as part of their counseling., Conclusion: A doubling in genetic counseling receipt rates lends support to the idea that the guideline issuance contributed to sustained rates of prophylactic oophorectomies in more recent years., (Copyright © 2012 Elsevier Inc. All rights reserved.)

Approximately 5 to 10 % of all ovarian cancers arise in the setting of a major genetic predisposition. The two main hereditary forms of ovarian adenocarcinomas are the hereditary breast/ovarian cancers associated with a BRCA1 or BRCA2 gene mutation and the Lynch syndrome associated with a MLH1, MSH2, MSH6 or PMS2 gene mutation. Their identification and the characterization of a causative germline mutation are crucial and have a major impact for affected women and their relatives in terms of medical management. The aim of this review is to indicate cancer risks associated with these two entities, to evaluate their contribution in the pathogenesis of ovarian cancers and to indicate the clinical data suggestive of these diagnoses, the validated indications for genetic analyses and the current management guidelines. We will also illustrate the diagnostic strategy by reporting a clinical observation.

Identifying new methods to deliver cancer genetic counseling (GC) are needed to meet the growing interest in BRCA1/2 testing. The goal of this pilot feasibility study was designed to test the initial acceptability of group GC on selected patient outcomes (satisfaction, distress, perceived control) in a breast/ovarian cancer genetics clinic setting. Sixty-five participants at increased risk for hereditary breast/ovarian cancer (HBOC) agreed to participate in self-selected individual or group GC appointments. Forty-nine participants completed all study questionnaires and were included in the analyses. There were significant improvements for participants in both the individual and group GC formats with regard to perceived personal control, general psychological distress and cancer-specific psychological distress scores. Participants in both the individual and group formats reported high satisfaction scores on the Genetic Counseling Satisfaction Scale. Study results suggest that group GC may be feasible and acceptable to high-risk women.

At present cancer genetics referrals are reactive to individuals asking for a referral and providing a family history thereafter. A previous pilot study in a single General Practice (GP) catchment area in North London showed a 1.5-fold increase in breast cancer risk in the Ashkenazi Jewish population compared with the non-Ashkenazi mixed population. The breast cancer incidence was equal in the Ashkenazim in both pre- and postmenopausal groups. We wanted to investigate the effect of proactively seeking family history data from the entire female population of the practice to determine the effect on cancer genetics referral. Objectives To determine the need for cancer genetics intervention for women in a single GP catchment area. (1) to determine the incidence and strength of family history of cancer in women aged over 18 in the practice, (2) to offer cancer genetics advice and determine the uptake of counselling in those with a positive family history, (3) to identify potential BRCA1/BRCA2 gene mutation carriers who can be offered clinical follow up with appropriate translational research studies. Design Population-based cohort study of one General Practice female population. Participants Three hundred and eighty-three women over the age of 18 from one General Practice who responded to a questionnaire about family history of cancer. The whole female adult GP population was the target and the total number sampled was 3,820. Results 10% of patients completed the questionnaire (n = 383). A family history of cancer was present in 338 cases, 95 went on to have genetic counselling or had previously had counselling and 47 were genetically tested. We identified three carriers of an Ashkenazi Jewish founder mutation in BRCA1. Conclusions Response rate to a family history questionnaire such as that used in genetics centres was low (10%) and other approaches will be needed to proactively assess family history. Although the Ashkenazim are present in 39% of the GP catchment area, 62% of those who returned a family history questionnaire were from this ethnic group and of those returned, 44% warranted referral to a cancer genetics unit. In the non Ashkenazim, the questionnaire return rate was 38% and 18% of those warranted referral to cancer genetics.

Background: Identification of low-income women with the rare but serious risk of hereditary cancer and their referral to appropriate services presents an important public health challenge. We report the results of formative research to reach thousands of women for efficient identification of those at high risk and expedient access to free genetic services. External validity is maximized by emphasizing intervention fit with the two end-user organizations who must connect to make this possible. This study phase informed the design of a subsequent randomized controlled trial., Methods: We conducted a randomized controlled pilot study (n = 38) to compare two intervention models for feasibility and impact. The main outcome was receipt of genetic counseling during a two-month intervention period. Model 1 was based on the usual outcall protocol of an academic hospital genetic risk program, and Model 2 drew on the screening and referral procedures of a statewide toll-free phone line through which large numbers of high-risk women can be identified. In Model 1, the risk program proactively calls patients to schedule genetic counseling; for Model 2, women are notified of their eligibility for counseling and make the call themselves. We also developed and pretested a family history screener for administration by phone to identify women appropriate for genetic counseling., Results: There was no statistically significant difference in receipt of genetic counseling between women randomized to Model 1 (3/18) compared with Model 2 (3/20) during the intervention period. However, when unresponsive women in Model 2 were called after 2 months, 7 more obtained counseling; 4 women from Model 1 were also counseled after the intervention. Thus, the intervention model that closely aligned with the risk program's outcall to high-risk women was found to be feasible and brought more low-income women to free genetic counseling. Our screener was easy to administer by phone and appeared to identify high-risk callers effectively. The model and screener are now in use in the main trial to test the effectiveness of this screening and referral intervention. A validation analysis of the screener is also underway., Conclusion: Identification of intervention strategies and tools, and their systematic comparison for impact and efficiency in the context where they will ultimately be used are critical elements of practice-based research., (Copyright © 2012 S. Karger AG, Basel.)

Purpose: Videoconferencing is increasingly used to deliver family cancer services for hereditary breast and ovarian cancer to outreach areas. This study compared the effectiveness and acceptability of genetic counseling for hereditary breast and ovarian cancer through videoconferencing (hereafter referred to as "telegenetics")., Methods: One hundred six women seen by telegenetics and 89 women seen face-to-face completed self-administered questionnaires before, and 1 month after, genetic counseling. Telegenetics consultations involved a genetic clinician via telegenetics in addition to a local genetic counselor present with the patient., Results: No significant differences were found between telegenetics and face-to-face genetic counseling in terms of knowledge gained (P = 0.55), satisfaction with the genetic counseling service (P = 0.76), cancer-specific anxiety (P = 0.13), generalized anxiety (P = 0.42), depression (P = 0.96), perceived empathy of the genetic clinician (P = 0.13), and perceived empathy of the genetic counselor (P = 0.12). Telegenetics performed significantly better than face-to-face counseling in meeting patients' expectations (P = 0.009) and promoting perceived personal control (P = 0.031)., Conclusion: Telegenetics seems to be an acceptable and effective method of delivering genetic counseling services for hereditary breast and ovarian cancer to underserved areas.

Since the identification of BRCA 1 and 2 in 1995, testing for mutations in these genes has been offered to cancer patients and their families by clinical genetics services. These services are provided across Europe by a small number of health professionals, and are therefore low volume, and low capacity and patients experience considerable delays, both in seeing a clinician and in laboratory testing. The UK private sector, driven by consumer demand and professional competition, has significantly reduced these delays. The development of a new class of therapeutic agent, the PARP inhibitors, is likely to drive the BRCA testing services towards the UK private sector model with much faster turnaround times. Several new genetic tests are now available including CYP 2D6 genotype analysis and the BCtect test. The clinical interpretation of these tests is complex, and the professional community has been naturally cautious about adopting new tests in clinical care. This article will examine the consequences of expected changes in BRCA testing practice, and consider the positioning of new tests in the patient pathway, and the messages given by health professionals.

Telegenetics offers an alternative model of delivering genetic counseling to rural and outreach areas; however there is a dearth of qualitative research into the patient's experience. Twelve women who had received telemedicine genetic counseling for hereditary breast and/or ovarian cancer (HBOC) within the previous 12 months participated in a semi-structured telephone interview. The interview explored women's experience with telegenetics, satisfaction, perceived advantages and disadvantages and quality of the interaction with their genetic professionals. Overall women were highly satisfied with telegenetics. Telegenetics offered them convenience and reduced travel and associated costs. The majority of women described feeling a high degree of social presence, or rapport, with the off-site genetic clinician. One woman with a recent cancer diagnosis, reported that telemedicine was unable to meet her needs for psychosocial support. This finding highlights the need to be mindful of the psychosocial support needs of women with a recent diagnosis being seen via telegenetics. Patients attending for HBOC genetic counseling are generally highly satisfied with the technology and the interaction. Care should be taken, however, with patients with more complex psychosocial needs.

Nowadays, women develop breast and ovarian cancer more and more early. Therefore, gynecologists and primary care physicians encounter the question, whether one of their patients has a genetic predisposition for cancer. They are crucial in initiating a referral for genetic counseling as well as in caring for high risk individuals coming up with questions concerning intensified cancer screening, chemoprevention or prophylactic surgery.This review presents the actual knowledge in these topics and delivers the molecular basis of hereditary breast and ovarian cancer mainly due to mutations in the genes BRCA1 and BRCA2. Problematic aspects of the penetrance of these gene mutations are shown and its role in counseling. The important details of the personal and family history, which influence the risk assessment, are pointed out. Tools for the risk calculation are presented as well as criteria for referral for genetic counseling. The important questions, which have to be addressed in pre- and post-test counseling, are discussed. Finally, the options for women with an inherited predisposition in order to reduce their cancer risk are presented. Each of the three management options 'intensified cancer screening', 'chemoprevention' and 'prophylactic surgery' is discussed thoroughly. Recommended cancer screening in male mutation carriers are mentioned as well.