Population-based Genetic Testing Research Articles

Cost-effectiveness of BRCA1 testing at time of obstetrical prenatal carrier screening for cancer prevention

BackgroundImproved technologies paired with an increase in access to genetic testing has led to the availability of expanded carrier screening evaluating hundreds of disorders. Currently, most autosomal dominant mutations, such as BRCA1, are not included in expanded carrier assays. Screening pregnant or preconception reproductive-aged women for BRCA1 may present a unique opportunity to perform population-based screening for patients at a time where precancer screening, chemoprevention and/or risk reducing surgery may be beneficial. ObjectiveThe objective of our study was to inform clinical decision making as to whether the universal incorporation of BRCA1 testing at the time of obstetrical prenatal carrier screening is cost-effective. Study DesignA decision analysis and Markov model was created. The initial decision point in the model was BRCA1 testing at the time of expanded carrier screening. Model probabilities, cost, and utility values were derived from published literature. For BRCA1-positive patients, the model simulated breast cancer screening and risk-reducing surgical interventions. A cycle length of 1 year and a time horizon of 47 years was used to simulate the lifespan of patients. Setting was Obstetrical clinics in U.S., and Participants were a theoretical cohort of 1,429,074 pregnant patients who annually undergo expanded carrier screening. ResultsAmong our cohort, BRCA1 testing resulted in identification of an additional 3,716 BRCA1 patients, prevention of 1,394 breast and ovarian cancer cases, and 1,084 fewer deaths. BRCA1 testing was a cost-effective strategy compared to no BRCA1 testing with an ICER of $86,001/QALYs. In a one-way sensitivity analysis, we varied the prevalence of BRCA1 in the population from 0% up to 20% and found that BRCA1 testing continued to be the cost-effective strategy until prevalence rate was reduced to 0.16% (Table S1). Multiple additional sensitivity analyses did not substantially impact the cost-effectiveness. ConclusionThe addition of BRCA1 testing to obstetrical prenatal carrier screening is a cost-effective management strategy to identify at-risk women at a time when cancer screening and preventive strategies can be effective. Despite the burden of additional genetic counseling, prenatal care represents a unique opportunity to implement population-based genetic testing.

Cost-Effectiveness of Population-Based Multigene Testing for Breast and Ovarian Cancer Prevention

The current method of BRCA testing for breast and ovarian cancer prevention, which is based on family history, often fails to identify many carriers of pathogenic variants. Population-based genetic testing offers a transformative approach in cancer prevention by allowing for proactive identification of any high-risk individuals and enabling early interventions. To assess the lifetime incremental effectiveness, costs, and cost-effectiveness of population-based multigene testing vs family history-based testing. This economic evaluation used a microsimulation model to assess the cost-effectiveness of multigene testing (BRCA1, BRCA2, and PALB2) for all women aged 30 to 35 years compared with the current standard of care that is family history based. Carriers of pathogenic variants were offered interventions, such as magnetic resonance imaging with or without mammography, chemoprevention, or risk-reducing mastectomy and salpingo-oophorectomy, to reduce cancer risk. A total of 2000 simulations were run on 1 000 000 women, using a lifetime time horizon and payer perspective, and costs were adjusted to 2022 US dollars. This study was conducted from September 1, 2020, to December 15, 2023. The main outcome measure was the incremental cost-effectiveness ratio (ICER), quantified as cost per quality-adjusted life-year (QALY) gained. Secondary outcomes included incremental cost, additional breast and ovarian cancer cases prevented, and excess deaths due to coronary heart disease (CHD). The study assessed 1 000 000 simulated women aged 30 to 35 years in the US. In the base case, population-based multigene testing was more cost-effective compared with family history-based testing, with an ICER of $55 548 per QALY (95% CI, $47 288-$65 850 per QALY). Population-based multigene testing would be able to prevent an additional 1338 cases of breast cancer and 663 cases of ovarian cancer, but it would also result in 69 cases of excess CHD and 10 excess CHD deaths per million women. The probabilistic sensitivity analyses show that the probability that population-based multigene testing is cost-effective was 100%. When the cost of the multigene test exceeded $825, population-based testing was no longer cost-effective (ICER, $100 005 per QALY; 95% CI, $87 601-$11 6323). In this economic analysis of population-based multigene testing, population-based testing was a more cost-effective strategy for the prevention of breast cancer and ovarian cancer when compared with the current family history-based testing strategy at the $100 000 per QALY willingness-to-pay threshold. These findings support the need for more comprehensive genetic testing strategies to identify pathogenic variant carriers and enable informed decision-making for personalized risk management.

O24: Patient engagement following identification of a pathogenic variant in a breast cancer risk gene through population-based genetic testing*

O24: Patient engagement following identification of a pathogenic variant in a breast cancer risk gene through population-based genetic testing*

An Accessible Communication System for Population-Based Genetic Testing: Development and Usability Study.

Genetic testing uptake is low, despite the well-established connection between pathogenic variants in certain cancer-linked susceptibility genes and ovarian cancer risk. Given that most major insurers cover genetic testing for those with a family history suggestive of hereditary cancer, the issue may lie in access to genetic testing. Remotely accessible web-based communication systems may improve awareness, and uptake, of genetic testing services. This study aims to present the development and formative evaluation of the multistep web-based communication system required to support the implementation of, and access to, genetic testing. While designing the multistep web-based communication system, we considered various barriers and facilitators to genetic testing, guided by dimensions of accessibility. In addition to conducting usability testing, we performed ongoing assessments focusing on the function of the web-based system and participant response rates, with the goal of continuing to make modifications to the web-based communication system as it is in use. The combined approach of usability testing and expert user experience consultation resulted in several modifications to the multistep web-based communication system, including changes that related to imagery and content, web accessibility, and general organization of the web-based system. All recommendations were made with the goal of improving the overall accessibility of the web-based communication system. A multistep web-based communication system appears to be an effective way to address many potential barriers to access, which may otherwise make genetic testing difficult for at-risk individuals to participate in. Importantly, some dimensions of access were easy to assess before study recruitment, but other aspects of the communication system required ongoing assessment during the implementation process of the Making Genetic Testing Accessible study.

Interest in genetic testing and risk-reducing behavioral changes: results from a community health assessment in New York City.

Risk-based genetic tests are often used to determine cancer risk, when to initiate screening, and frequency of screening, but rely on interest in genetic testing. We examined overall interest in genetic testing for cancer risk assessment and willingness to change behavior, and whether these are affected by demographic or socioeconomic factors.We conducted a community needs health survey in 2019 among primary care and cancer patients, family members and community members in New York City. We used univariable analysis and relative risk regression to examine interest in genetic cancer risk testing and willingness to modify lifestyle behaviors in response to an informative genetic test.Of the 1225 participants, 74.0% (n = 906) expressed interest in having a genetic test to assess cancer risk. Interest in genetic testing was high across all demographic and socioeconomic groups; reported interest in genetic testing by group ranged from 65.0 (participants aged 65years and older) to 83.6% (participants below federal poverty level). Among the 906 participants that reported interest in genetic testing, 79.6% were willing to change eating habits, 66.5% to change exercise habits, and 49.5% to lose weight in response to an informative genetic test result.Our study reveals that interest in genetic testing for cancer risk is high among patients and community members and is high across demographic and socioeconomic groups, as is the reported willingness to change behavior. Based on these results, we recommend that population-based genetic testing may result in greater reduction cancer risk, particularly among minoritized groups.

Population-based genetic testing for cancer susceptibility genes: quo vadis?

Population-based genetic testing for cancer susceptibility genes: quo vadis?

Environmental scan of family chart linking for genetic cascade screening in a U.S. integrated health system.

Background: An alternative to population-based genetic testing, automated cascade genetic testing facilitated by sharing of family health history, has been conceptualized as a more efficient and cost-effective approach to identify hereditary genetic conditions. However, existing software and applications programming interfaces (API) for the practical implementation of this approach in health care settings have not been described. Methods: We reviewed API available for facilitating cascade genetic testing in electronic health records (EHRs). We emphasize any information regarding informed consent as provided for each tool. Using semi-structured key informant interviews, we investigated uptake of and barriers to integrating automated family cascade genetic testing into the EHR. Results: We summarized the functionalities of six tools related to utilizing family health history to facilitate cascade genetic testing. No tools were explicitly capable of facilitating family cascade genetic testing, but few enterprise EHRs supported family health history linkage. We conducted five key informant interviews with four main considerations that emerged including: 1) incentives for interoperability, 2) HIPAA and regulations, 3) mobile-app and alternatives to EHR deployment, 4) fundamental changes to conceptualizing EHRs. Discussion: Despite the capabilities of existing technology, limited bioinformatic support has been developed to automate processes needed for family cascade genetic testing and the main barriers for implementation are nontechnical, including an understanding of regulations, consent, and workflow. As the trade-off between cost and efficiency for population-based and family cascade genetic testing shifts, the additional tools necessary for their implementation should be considered.

Genetic Testing for All: Overcoming Disparities in Ovarian Cancer Genetic Testing.

Nearly 3% of the population carries genetic variants that lead to conditions that include hereditary breast and ovarian cancer and Lynch syndrome. These pathogenic variants account for approximately 20% of ovarian cancer cases, and those with germline pathogenic variants have an odds ratio between 4 and 40 for developing ovarian cancer compared with noncarriers. Given the high prevalence of genetic variants, multiple organizations, including ASCO, recommend universal genetic counseling and testing for women diagnosed with epithelial ovarian cancer. Unfortunately, most individuals with a hereditary ovarian cancer syndrome are unaware of their underlying mutation, and racial and ethnic minority individuals as well as patients of low socioeconomic status experience disproportionate rates of underrecognition, leading to late and missed diagnoses. In this article, we review the current understanding of disparities in genetic testing for people with ovarian cancer, the role of population-based genetic testing, and innovative strategies to overcome the critical inequities present in current cancer genetic medicine. Underuse and disparities related to accessing recommended genetic services are complex and multifactorial, requiring improvements in processes related to provider identification, genetic counseling and testing referral, and patient uptake/adherence. Through the expansion of remote genetic counseling, offering online strategies for genetic testing, and reaching at-risk relatives through direct relative contact cascade testing and population-based genetic testing, there are a growing number of innovations in the field of genetic medicine, many of which emphasize health equity and offer promising alternatives to the current paradigm of genetic testing.

Gynecologic Cancer Risk and Genetics: Informing an Ideal Model of Gynecologic Cancer Prevention

Individuals with proven hereditary cancer syndrome (HCS) such as BRCA1 and BRCA2 have elevated rates of ovarian, breast, and other cancers. If these high-risk people can be identified before a cancer is diagnosed, risk-reducing interventions are highly effective and can be lifesaving. Despite this evidence, the vast majority of Canadians with HCS are unaware of their risk. In response to this unmet opportunity for prevention, the British Columbia Gynecologic Cancer Initiative convened a research summit “Gynecologic Cancer Prevention: Thinking Big, Thinking Differently” in Vancouver, Canada on 26 November 2021. The aim of the conference was to explore how hereditary cancer prevention via population-based genetic testing could decrease morbidity and mortality from gynecologic cancer. The summit invited local, national, and international experts to (1) discuss how genetic testing could be more broadly implemented in a Canadian system, (2) identify key research priorities in this topic and (3) outline the core essential elements required for such a program to be successful. This report summarizes the findings from this research summit, describes the current state of hereditary genetic programs in Canada, and outlines incremental steps that can be taken to improve prevention for high-risk Canadians now while developing an organized population-based hereditary cancer strategy.

CN3 It's All in the Family: Microsimulation Modelling of Genetic Testing

Around 20-25% of ovarian cancers and 5-10% of breast cancers are due to an inherited predisposition. The primary clinical and economic benefit of hereditary breast and ovarian cancer (HBOC) testing is from preventing cancers in unaffected relatives who present for predictive/cascade testing for a known pathogenic variant in the family. Population-based genetic testing (GT) as an alternative to current practice has been gaining momentum, as it enables identification of high-risk women before they develop cancer.

Population-based Genetic Testing for Precision Prevention

Global interest in genetic testing for cancer susceptibility genes (CSG) has surged with falling costs, increasing awareness, and celebrity endorsement. Current access to genetic testing is based on clinical criteria/risk model assessment which uses family history as a surrogate. However, this approach is fraught with inequality, massive underutilization, and misses 50% CSG carriers. This reflects huge missed opportunities for precision prevention. Early CSG identification enables uptake of risk-reducing strategies in unaffected individuals to reduce cancer risk. Population-based genetic testing (PGT) can overcome limitations of clinical criteria/family history-based testing. Jewish population studies show population-based BRCA testing is feasible, acceptable, has high satisfaction, does not harm psychologic well-being/quality of life, and is extremely cost-effective, arguing for changing paradigm to PGT in the Jewish population. Innovative approaches for delivering pretest information/education are needed to facilitate informed decision-making for PGT. Different health systems will need context-specific implementation strategies and management pathways, while maintaining principles of population screening. Data on general population PGT are beginning to emerge, prompting evaluation of wider implementation. Sophisticated risk prediction models incorporating genetic and nongenetic data are being used to stratify populations for ovarian cancer and breast cancer risk and risk-adapted screening/prevention. PGT is potentially cost-effective for panel testing of breast and ovarian CSGs and for risk-adapted breast cancer screening. Further research/implementation studies evaluating the impact, clinical efficacy, psychologic and socio-ethical consequences, and cost-effectiveness of PGT are needed.

Molecular screening of familial hypercholesterolemia in Icelanders

Familial hypercholesterolemia (FH) is a monogenic disease characterized by a lifelong exposure to high LDL-C levels that can lead to early onset coronary heart disease (CHD). The main causes of FH identified to date include loss-of-function mutations in LDLR or APOB, or gain-of-function mutations in PCSK9. Early diagnosis and genetic testing of FH suspects is critical for improved prognosis of affected individuals as lipid lowering treatments are effective in preventing CHD related morbidity and mortality. In the present study, we carried out a comprehensive screening, using a next-generation sequencing (NGS) panel, for FH culprit mutations in two Icelandic studies representative of either FH families or the general population. We confirmed all previously known mutations in the FH families, and identified two subjects that had been misdiagnosed clinically at young age. We identified six new mutations in the Icelandic FH families and detected three pathogenic mutations in the general population-based study. The application of the NGS panel revealed substantial diagnostic yields in identifying pathogenic mutations, or 68.2% of those with definite clinical diagnosis of FH in the family material and 5.6-fold enrichment in the population-based genetic testing.

Population-based genetic testing for Women's cancer prevention.

Germline mutations in cancer-susceptibility-genes (CSG) can dramatically increase womens' lifetime risk of ovarian, endometrial, breast and bowel cancers. Identification of unaffected carriers is important to enable proactive engagement with highly effective screening and preventive options to minimise cancer risk. Currently, a family-history model is used to identify individuals with CSGs. Complex regional referral guidelines specify the family-history criteria required before an individual is eligible for genetic-testing. This model is ineffective, resource intense, misses >50% CSG carriers, is associated with underutilisation of genetic-testing services and delays detection of mutation carriers. Although awareness and detection of CSG-carriers has improved, over 97% carriers remain unidentified. This reflects significant missed opportunities for precision-prevention. Population-based genetic-testing (PBGT) represents a novel healthcare strategy with the potential to dramatically improve detection of unaffected CSG-carriers along with enabling population risk-stratification for cancer precision-prevention. Several research studies have assessed the impact, feasibility, acceptability, long-term psychological outcomes and cost-effectiveness of population-based BRCA-testing in the Ashkenazi-Jewish population. Initial data on PBGT in the general-population is beginning to emerge and large implementation studies investigating PBGT in the general-population are needed. This review will summarise the current research into the clinical, psycho-social, health-economic, societal and ethical consequences of a PBGT model for women's cancer precision-prevention.

Population-based cancer predisposition testing as a component of newborn screening: A cost-effectiveness analysis.

10021 Background: The role of population-based newborn genetic testing to identify infants at high risk of childhood-onset cancers has not been studied, despite the availability of cancer surveillance guidelines for early detection in high-risk infants and children. Methods: We developed the Precision Medicine Prevention and Treatment (PreEMPT) Model to estimate the value of targeted population-based newborn genomic sequencing (tNBS) for a select panel of genes associated with early onset pediatric malignancy. Cohorts of US newborns were simulated under tNBS screening vs. usual care, from birth to death. Six pediatric cancer predisposition syndromes were included in the model with mutations in RET, RB1, TP53, DICER1, SUFU or SMARCB1 assigned at birth, using mutation prevalence and disease risks drawn from the published literature, as well as SEER, ClinVar and gnoMAD databases. Newborns with mutations underwent cancer surveillance based on established guidelines for each gene-related pediatric malignancy. Survival benefit was modeled as a reduction in proportion of advanced disease, cancer deaths, and treatment-related late mortality risks. Costs were based on published literature and national databases. Results: In a typical US birth cohort of 4 million newborns, we estimated 1280 cancer cases in the malignancies associated with this gene panel would be detected before age 20 under usual care, resulting in 451 cancer deaths and 490 living with radiation exposure risks. tNBS would prevent 8 cancers (in RET mutation carriers), avert 34 deaths through surveillance, result in 3190 life-years (LY) gained and a 13% relative reduction in proportion of adult survivors at risk for radiation-associated late mortality. Given a sequencing cost of $30 (e.g., $5/gene), the incremental cost-effectiveness ratio (ICER) for tNBS was $230,500 per LY saved; if no additional cost was incurred beyond standard newborn screening, the ICER decreased to $101,100/LY. Conclusions: Population-based genetic testing of newborns can reduce mortality associated with pediatric cancers and could potentially be cost-effective as sequencing costs decline. Further work will include modeling a broader panel of predisposition genes.

The PHACT Study: Population Health and Cancer Testing.

1531 Background: There is considerable uncertainty on cancer risk and recommendations for genetic testing in various populations. The purpose of this study is to test types and frequencies of cancer risk mutations in large, unaffected multiethnic populations, as well as feasibility and acceptance of general population germline testing. Methods: After consent, germline genetic testing via Color Genomics 30-gene Cancer Risk panel with personal and family cancer history assessment was offered to 500 participants residing in the San Francisco Bay Area. Participants were older than 21 and without a known family history of a cancer risk mutation. Recruitment occurred at random and through various, non-cancer related community events. Genetic counseling through a genetic counselor at UCSF was offered to all participants. Post-participation surveys were sent out to those who completed testing with 195 responses to assess attitudes towards genetic testing. Results: 500 participants completed testing; 35 were found to have a cancer risk mutation (7.0%). The majority of these have been in moderate risk cancer mutations including CHEK2 (1.0%), APC (0.8%), MUTYH (1.4%) and NBN (0.4%); higher risk mutations were found in BRCA1 (0.4%), BRCA2 (0.6%), BRIP1 (0.4%), PMS2 (0.2%) and PALB2 (0.2%). Data via self-reporting and SNP testing via the Color Genomics platform was collected to contextualize the racial, ethnic, and geographic association of these results. Rates of VUS (variants of uncertain significance) differed among the various ethnic groups (p = 0.027) with the lowest rates in Europeans vs. all other ethnicities (16.6% vs. 29%, p = 0.001). 37 (19.8%) out of 187 respondents reported that their genetic testing influenced testing in family members. In those 37 families, 8 additional people were positive for genetic mutations. Cost was the biggest barrier to pursuing prior genetic testing according to most individuals (20% of respondents); others were too busy (12%) or did not feel genetic testing was medically recommended (9%). Conclusions: The PHACT study demonstrates that large population screening of cancer risk mutations is feasible. The number of participants found to have mutations was greater than expected although the majority of these were in moderate risk genes. We found high rates of VUS in non-Europeans, which points to the complexity of population-based genetic testing.

Population-based genetic testing of asymptomatic women for breast and ovarian cancer susceptibility

The identification of carriers of hereditary breast and ovarian cancer (HBOC) gene variants through family cancer history alone is suboptimal, and most population-based genetic testing studies have been limited to founder mutations in high-risk populations. Here, we determine the clinical utility of identifying actionable variants in a healthy cohort of women. Germline DNA from a subset of healthy Australian women participating in the lifepool project was screened using an 11-gene custom sequencing panel. Women with clinically actionable results were invited to attend a familial cancer clinic (FCC) for post-test genetic counseling and confirmatory testing. Outcomes measured included the prevalence of pathogenic variants, and the uptake rate of genetic counseling, risk reduction surgery, and cascade testing. Thirty-eight of 5908 women (0.64%) carried a clinically actionable pathogenic variant. Forty-two percent of pathogenic variant carriers did not have a first-degree relative with breast or ovarian cancer and 89% pursued referral to an FCC. Forty-six percent (6/13) of eligible women pursued risk reduction surgery, and the uptake rate of cascade testing averaged 3.3 family members per index case. Within our cohort, HBOC genetic testing was well accepted, and the majority of high-risk gene carriers identified would not meet eligibility criteria for genetic testing based on their existing family history.

Abstract PD1-07: Population genetic testing for breast cancer susceptibility

Abstract Background. Germline mutations in certain genes account for a large proportion of inherited risk for breast and ovarian cancer. The identification of asymptomatic mutation carriers could significantly reduce the incidence of these diseases as active risk management can dramatically reduce the risk of developing cancer. In most countries, identifying high-risk individuals is based on their family history. In general, a family is first identified because one family member develops cancer and, because of high-risk indicators is referred to a familial cancer centre (FCC). However, current data suggests that many BRCA1 or BRCA2 mutation carriers do not have a remarkable history of cancer in a close relative. Population-based genetic testing would be a far more effective strategy for identification of at-risk individuals. To test the feasibility of such a strategy we are conducting a population genetic testing trial for actionable mutations in 11 breast/ovarian cancer predisposition genes (BRCA1, BRCA2, PALB2, ATM, CDH1, PTEN, STK11, TP53, BRIP1, RAD51C, RAD51D) among 15,000 healthy women from the Australian population. Methods. All subjects are female participants in the LifePool cohort (www.lifepool.org) who had no personal history of breast or ovarian cancer at the time of DNA collection. Participants found to carry an actionable germline mutation were notified by letter with an invitation to contact the PeterMac telephone genetic counselling service for further information and/or also invited for counselling at an FCC. Only participants with an actionable mutation were notified of their genetic testing result. Results. Of the 5,557 women tested to date, 40 (0.72%) were carriers of mutations that are currently actionable in the Australian context (BRCA1 n=7, BRCA2 n=15, PALB2 n=15, ATM n=3). All 40 women accepted the invitation to attend a familial cancer centre for formal predictive testing. Less than 20% of the women would have met the minimum threshold for clinical genetic testing under current guidelines. A further 16 participants (0.29%) carried mutations in BRIP1, RAD51C and RAD51D but were not notified of the result as these genes are not currently actionable in Australia. No mutations were identified in CDH1, PTEN, STK11 or TP53. Conclusions. A relatively large proportion of cancer free-women from Australia carry high-risk mutations in BRCA genes and subsequent uptake of clinical genetic testing was very high. Population-based genetic testing is well accepted and can identify a much larger proportion of the at risk-population than contemporary family history based approaches. Citation Format: Campbell IG, Rowley S, Devereux L, McInerny S, Grewal N, Young M-A, Lee A, Trainer A, James P. Population genetic testing for breast cancer susceptibility [abstract]. In: Proceedings of the 2017 San Antonio Breast Cancer Symposium; 2017 Dec 5-9; San Antonio, TX. Philadelphia (PA): AACR; Cancer Res 2018;78(4 Suppl):Abstract nr PD1-07.

Health care professionals\u2019 attitudes towards population-based genetic testing and risk-stratification for ovarian cancer: a cross-sectional survey

BackgroundOvarian cancer is usually diagnosed at a late stage when outcomes are poor. Personalised ovarian cancer risk prediction, based on genetic and epidemiological information and risk stratified management in adult women could improve outcomes. Examining health care professionals’ (HCP) attitudes to ovarian cancer risk stratified management, willingness to support women, self-efficacy (belief in one’s own ability to successfully complete a task), and knowledge about ovarian cancer will help identify training needs in anticipation of personalised ovarian cancer risk prediction being introduced.MethodsAn anonymous survey was distributed online to HCPs via relevant professional organisations in the UK. Kruskal-Wallis tests and pairwise comparisons were used to compare knowledge and self-efficacy scores between different types of HCPs, and attitudes toward population-based genetic testing and risk stratified management were described. Content analysis was undertaken of free text responses concerning HCPs willingness to discuss risk management options with women.ResultsOne hundred forty-six eligible HCPs completed the survey: oncologists (31%); genetics clinicians (30%); general practitioners (22%); gynaecologists (10%); nurses (4%); and ‘others’. Scores for knowledge of ovarian cancer and genetics, and self-efficacy in conducting a cancer risk consultation were generally high but significantly lower for general practitioners compared to genetics clinicians, oncologists, and gynaecologists. Support for population-based genetic testing was not high (<50%). Attitudes towards ovarian cancer risk stratification were mixed, although the majority of participants indicated a willingness to discuss management options with patients.ConclusionsLarger samples are required to investigate attitudes to population-based genetic testing for ovarian cancer risk and to establish why some HCPs are hesitant to offer testing to all adult female patients. If ovarian cancer risk assessment using genetic testing and non-genetic information including epidemiological information is rolled out on a population basis, training will be needed for HCPs in primary care to enable them to provide appropriate support to women at each stage of the process.

Coming of age in Canada: a study of population-based genetic testing for breast and ovarian cancer.

The BRCA1 and BRCA2 genes are the two most commonly mutated in hereditary breast and ovarian cancer, and they are the canonical pair when it comes to cancer testing. [...]

Population-Based Study of Attitudes toward BRCA Genetic Testing among Orthodox Jewish Women.

Given the high prevalence (1 in 40) of BRCA1 and BRCA2 mutations among Ashkenazi Jews, population-based BRCA genetic testing in this ethnic subgroup may detect more mutation carriers. We conducted a cross-sectional survey among Orthodox Jewish women in New York City to assess breast cancer risk, genetic testing knowledge, self-efficacy, perceived breast cancer risk and worry, religious and cultural factors affecting medical decision-making. We used descriptive statistics and multivariable logistic regression models to identify predictors of genetic testing intention/uptake. Among evaluable respondents (n = 243, 53% response rate), median age was 25 and nearly half (43%) had a family history of breast cancer. Only 49% of the women had adequate genetic testing knowledge and 46% had accurate breast cancer risk perceptions. Five percent had already undergone BRCA genetic testing, 20% stated that they probably/definitely will get tested, 28% stated that they probably/definitely will not get tested, and 46% had not thought about it. High decision self-efficacy, adequate genetic testing knowledge, higher breast cancer risk, and overestimation of risk were associated with genetic testing intention/uptake. Decision support tools that improve knowledge and self-efficacy about genetic testing may facilitate population-based BRCA testing among Orthodox Jews.