Evaluation of a Heredofamilial Cancer Unit in Increasing Family History Collection and Genetic Counseling Referrals Among Spanish Oncologists at a University Hospital

A comprehensive family history is essential to identify patients at risk for hereditary cancer who could benefit from genetic counseling (GC). In a previous study, we observed a low occurrence of family history record (FHR) collection rate and GC referral among oncologists at our institution. The present work analyzes whether the implementation of a heredofamilial cancer unit (HFCU) would improve these parameters. We retrospectively compared the FHR rate in clinical records, National Cancer Institute (NCI) general criteria for hereditary cancer suspicion, GC referrals and FHR quality in two cohorts: cohort 1 (patients diagnosed before HFCU creation) and cohort 2 (after HFCU creation). Of 1,175 patients (590 cohort 1 and 585 cohort 2), FHRs were consigned in 27.3 % and 52.5 % of patients, respectively (p?<?0.001). The GC referral of patients with any NCI criterion was 13.6 % xin cohort 1 vs. 40.5 % in cohort 2 (p?<?0.001). FHR quality improved in terms of the total number of relatives (164 vs. 314, p?=?0.1, N.S.) and number of healthy relatives consigned (80 vs. 191, p?<?0.01). Nine mutations (6 BRCA, 1 MEN1, 2 Lynch), 4 unknown significance variants (all in BRCA) and 2 with no mutation were identified among patients referred from cohort 2. We conclude that the creation of a heredofamilial cancer unit has changed both FHR and GC referrals among oncologists at our institution, although continuous educational efforts are required.     

Use of Genetic Tests among Neurologists and Psychiatrists: Knowledge,Attitudes, Behaviors,and Needs for Training

This study explores neurologists’ and psychiatrists’ knowledge, attitudes, and practices concerning genetic tests. Psychiatrists (n?=?5,316) and neurologists (n?=?2,167) on the American Medical Association master list who had agreed to receive surveys were sent an email link to a survey about their attitudes and practices regarding genetic testing; 372 psychiatrists and 163 neurologists responded. A higher proportion of neurologists (74 %) than psychiatrists (14 %) who responded to the survey had ordered genetic testing in the past 6 months. Overall, most respondents thought that genetic tests should be performed more frequently, but almost half believed genetic tests could harm patients psychologically and considered legal protections inadequate. Almost half of neurologists (49 %) and over 75 % of psychiatrists did not have a genetics professional to whom to refer patients; those who had ordered genetic tests were more likely than those who did not do so to have access to a genetic counselor. Of respondents, 10 % had received patient requests not to document genetic information and 15 % had received inquiries about direct-to-consumer genetic testing. Neurologists reported themselves to be relatively more experienced and knowledgeable about genetics than psychiatrists. These data, the first to examine several important issues concerning knowledge, attitudes and behaviors of neurologists and psychiatrists regarding genetic tests, have important implications for future practice, research, and education.     

Attitudes and Practices Among Internists Concerning Genetic Testing

Many questions remain concerning whether, when, and how physicians order genetic tests, and what factors are involved in their decisions. We surveyed 220 internists from two academic medical centers about their utilization of genetic testing. Rates of genetic utilizations varied widely by disease. Respondents were most likely to have ordered tests for Factor V Leiden (16.8 %), followed by Breast/Ovarian Cancer (15.0 %). In the past 6 months, 65 % had counseled patients on genetic issues, 44 % had ordered genetic tests, 38.5 % had referred patients to a genetic counselor or geneticist, and 27.5 % had received ads from commercial labs for genetic testing. Only 4.5 % had tried to hide or disguise genetic information, and <2 % have had patients report genetic discrimination. Only 53.4 % knew of a geneticist/genetic counselor to whom to refer patients. Most rated their knowledge as very/somewhat poor concerning genetics (73.7 %) and guidelines for genetic testing (87.1 %). Most felt needs for more training on when to order tests (79 %), and how to counsel patients (82 %), interpret results (77.3 %), and maintain privacy (80.6 %). Physicians were more likely to have ordered a genetic test if patients inquired about genetic testing (p?<?.001), and if physicians had a geneticist/genetic counselor to whom to refer patients (p?<?.002), had referred patients to a geneticist/genetic counselor in the past 6 months, had more comfort counseling patients about testing (p?<?.019), counseled patients about genetics, larger practices (p?<?.032), fewer African-American patients (p?<?.027), and patients who had reported genetic discrimination (p?<?.044). In a multiple logistic regression, ordering a genetic test was associated with patients inquiring about testing, having referred patients to a geneticist/genetic counselor and knowing how to order tests. These data suggest that physicians recognize their knowledge deficits, and are interested in training. These findings have important implications for future medical practice, research, and education.     

Expansion of Genetic Services Utilizing a General Genetic Counseling Clinic

We established a general genetic counseling clinic (GCC) to help reduce long wait times for new patient appointments and to enhance services for a subset of patients. Genetic counselors, who are licensed in Tennessee, were the primary providers and MD geneticists served as medical advisors. This article describes the clinic referral sources, reasons for referral and patient dispositions following their GCC visit(s). We obtained patients by triaging referrals made to our medical genetics division. Over 24 months, our GCC provided timely visits for 321 patients, allowing the MD geneticists to focus on patients needing a clinical exam and/or complex medical management. Following their GCC visit(s), over 80 % of patients did not need additional appointments with an MD geneticist. The GCC allowed the genetic counselor to spend more time with patients than is possible in our traditional medical genetics clinic. Patient satisfaction surveys (n?=?30) were very positive overall concerning the care provided. Added benefits for the genetic counselors were increased professional responsibility, autonomy and visibility as health care providers. We conclude that genetic counselors are accepted as health care providers by patients and referring providers for a subset of clinical genetics cases. A GCC can expand genetic services, complement more traditional genetic clinic models and utilize the strengths of the genetic counselor health care provider.     

Counselees’ Expressed Level of Understanding of the Risk Estimate and Surveillance Recommendation are Not Associated with Breast Cancer Surveillance Adherence

We studied counselees’ expressed understanding of the risk estimate and surveillance recommendation in the final consultation for breast cancer genetic counseling in relation with their risk perception, worry and cancer surveillance adherence 1 year post-counseling. Consecutive counselees were included from 2008 to 2010. Counselees with an indication for diagnostic DNA-testing for themselves or a breast cancer affected relative were requested to complete online questionnaires before and after counseling and one year after counseling (N?=?152–124). Self-reported surveillance was compared to surveillance recommendations. Consultations were videotaped. Counselees’ reactions to the risks and recommendations were coded. Statements about the risk perception and surveillance intentions of breast cancer unaffected counselees were transcribed. Associations with outcomes were explored. Almost all breast cancer unaffected counselees (>90 %) reacted to their risk estimate with an utterance indicating understanding and this reaction was not significantly associated with their post-visit risk perception alignment. Over one-third (38.6 %) overestimated their risk post-counseling. Few counselees (5.8 %) expressed surveillance intentions. One year after counseling, about three-quarters (74.0 %) of the breast cancer unaffected counselees had adhered to the surveillance recommendation. Almost one-quarter (23.3 %) had performed more mammograms/MRI scans than recommended, which was associated with prior mammography uptake (n?=?47; X ² ?=?5.2; p?=?.02). Counselees’ post-counseling overestimation of their risk, high levels of worry and high surveillance uptake were not reflected in their reactions to the counselor’s information during the final visit.     

The Impact of Angelina Jolie (AJ)’s Story on Genetic Referral and Testing at an Academic Cancer Centre in Canada

In May 2013, Angelina Jolie revealed to the media that she had undergone preventive double mastectomy after testing positive for a BRCA1 gene mutation. Media coverage has been extensive, but it is not clear how such a personal story affected the public and cancer genetics clinics. We conducted a retrospective review using data from the clinical database of the Familial Cancer Program at our centre. The impact of Ms. Jolie’s story on genetic counseling referrals and the appropriateness of such referrals were assessed and reported. The number of women referred for genetic counseling increased by 90 % after 6 months and remained high one year after AJ’s story with an increase of 88 % from baseline. The number of women who qualified for genetic testing increased by 105 % after 6 months; this increase persisted but was somewhat lower after one year with an increase of 68 % from baseline. Furthermore the number of BRCA1/2 carriers identified increased by 110 % after 6 months and by 42 % after one year.The effect of Mrs. Jolie’s story persisted one year after its release; however in the latter half of the year, the hereditary cancer risk of referred women was significantly lower than initially observed. The next challenge for our health care system will not only be to meet the increased demand for cancer genetic services in our region, but also to ensure that referrals and hence use of genetic counseling resources are appropriate.     

Patient Perceptions of Telephone vs. In-Person <Emphasis Type="Italic">BRCA1/BRCA2</Emphasis> Genetic Counseling

Telephone genetic counseling (TC) for hereditary breast/ovarian cancer risk has been associated with positive outcomes in high risk women. However, little is known about how patients perceive TC. As part of a randomized trial of TC versus usual care (UC; in-person genetic counseling), we compared high risk women’s perceptions of: (1) overall satisfaction with genetic counseling; (2) convenience; (3) attentiveness during the session; (4) counselor effectiveness in providing support; and (5) counselor ability to recognize emotional responses during the session. Among the 554 participants (TC, N?=?272; UC, N?=?282), delivery mode was not associated with self-reported satisfaction. However, TC participants found counseling significantly more convenient than UC participants (OR?=?4.78, 95 % CI?=?3.32, 6.89) while also perceiving lower levels of support (OR?=?0.56, 95 % CI?=?0.40–0.80) and emotional recognition (OR?=?0.53, 95 % CI?=?0.37–0.76). In exploratory analyses, we found that non-Hispanic white participants reported higher counselor support in UC than in TC (69.4 % vs. 52.8 %; OR?=?3.06, 95 % CI?=?1.39–6.74), while minority women perceived less support in UC vs. TC (58.3 % vs. 38.7 %; OR?=?0.80, 95 % CI?=?0.39–1.65). We discuss potential research and practice implications of these findings which may further improve the effectiveness and utilization of TC.     

An Internal Performance Assessment of CancerGene Connect: An Electronic Tool to Streamline,Measure and Improve the Genetic Counseling Process

CancerGene Connect (CGC) is a web-based program that combines the collection of family and medical history, cancer risk assessment, psychosocial assessment, report templates, a result tracking system, and a patient follow up system. The performance of CGC was assessed in several ways: pre-appointment completion data analyzed for demographic and health variables; a time study to assess overall time per case and to compare the data entry by the genetic counselor compared to the patient, and a measured quality assessment of the program via observation and interview of patients. Prior to their appointment, 52.3 % of 2,414 patients completed the online patient questionnaire section of CGC. There were significant differences in completion rates among racial and ethnic groups. County hospital patients were less likely to complete the questionnaire than insured patients (p?p?CGC. CGC reduces genetic counselor time by approximately 14–46 % compared to average time per case using traditional risk assessment and documentation methods previously reported. All surveyed users felt the questionnaire was easy to understand. CGC is an effective tool that streamlines workflow, and provides a standardized data collection tool that can be used to evaluate and improve the genetic counseling process.     

Perceived Risk Following Melanoma Genetic Testing: A 2-Year Prospective Study Distinguishing Subjective Estimates from Recall

A major goal of predictive genetic testing is to alert people to their risk before illness onset; however, little is known about how risk perceptions change following genetic testing and whether information is recalled accurately over time. In the United States, a CDKN2A/p16 mutation confers 76 % lifetime risk of melanoma. Following genetic counseling and test reporting, subjective risk estimates and recall of counselor-provided risk estimates were assessed 5 times over the next 2 years among 60 adult members of 2 extended CDKN2A/p16 kindreds. No sustained changes from baseline in risk perceptions were reported. Unaffected carriers (n?=?15) consistently reported significantly lower subjective risk estimates (46 %) than they were actually given (76 %, p?<?0.001) or recalled having been given (60 %, p?<?0.001). Noncarriers’ (n?=?27) risk estimates decreased following results disclosure, but rebounded, with both subjective and recalled estimates subsequently exceeding what they were told by the counselor (both ps?<?0.001). Affected carriers’ (n?=?18) risk estimates for developing a new melanoma corresponded well to counselor-provided information (p?=?0.362). For all 3 patient groups, results were consistent across multiple risk measures and remained similar when demographic, phenotypic, and baseline behavioral contributors to melanoma risk were statistically controlled. These findings are consistent with other studies of risk perception, but additional studies of more diverse populations are needed to understand the reasons behind both the persistence of initial risk estimates and their divergence from information provided by the counselor during genetic counseling. Additionally, determining whether holding subjective risk perceptions that differ from counselor-provided information ultimately affects adherence to management recommendations will help guide the presentation of risk information in genetic counseling practice.     

Assessment of Current Genetic Counselor Practices in Post-Visit Written Communications to Patients

Providing patients with post-visit written communication (PVWC) is a long-standing component of genetic counseling. However the depiction of this practice in today’s clinical landscape is limited. To better describe this practice, we surveyed practicing clinical genetic counselors to ask if they send post-visit communications to patients and if so, what are the types, the average length, and the average time spent writing. They were also asked the perceived purpose of providing PVWC, if/how the practice has changed over time, and factors influencing the practice. Eighty three percent (233/280) of participants reported sending patients PVWC. Of those, 93% sent at least one communication written in patient-friendly language. The type of communication varied by specialty. Prenatal genetic counselors were less likely to send patient-specific letters and hybrid letters (defined as letters with content intended for both a physician and a patient) than those in cancer genetics (p = 0.010, p = 0.001, respectively) or pediatric genetics (p = 0.001, p = 0.004, respectively). Prenatal genetic counselors spent less time on average writing post-visit communications (19.0 min) relative to those in cancer and pediatric genetics (30.6 min, p = 0.027 and 37.7 min, p = 0.001, respectively). The most commonly cited purpose for sending PVWC was to provide patients a formal account of what happened during the appointment. These data suggest PWVC are still regularly sent to patients but the practice is variable and is influenced by numerous factors including specialty, years of experience, and time constraints.     

Breast and Ovarian Cancer: The Forgotten Paternal Contribution

Five to 10% of all cases of breast and ovarian cancer are attributed to a heritable genetic predisposition. Transmission of BRCA1 and BRCA2 mutations is equally likely through maternal or paternal lineage; however, fewer referrals to cancer genetics clinics appear to be made for a paternal, than maternal, family history of breast and/or ovarian cancer. To examine this potential bias, a retrospective review of 315 patient and family charts was conducted by one familial cancer clinic in Toronto, Canada. Referral letters, risk estimates, and family histories were analyzed to identify significant differences between patients referred with maternal and paternal family histories. It was determined that patients are approximately five times more likely to be referred with a maternal family history of breast and/or ovarian cancer as compared to those with a paternal family history (p = <.0001). Individuals with a paternal family history were found to have a different, and higher, pattern of risk estimates (p = .00064). No significant difference was seen between the type of referrals sent by general practitioners, oncologists, and gynecologists. Recommendations to increase the awareness of paternal family history in assessing cancer risk are provided.     

Elucidating Genetic Counseling Outcomes from the Perspective of Genetic Counselors

Outcomes in the field of genetic counseling have not been well-defined or categorized, despite pressures to provide evidence-based measures in all areas of healthcare. This study describes a process to elucidate and categorize a wide-ranging set of outcomes as characterized by diverse groups of practicing genetic counselors. Semi-structured focus groups were conducted at the National Society of Genetic Counselors 2013 NSGC Annual Education Conference during an educational breakout session. A general inductive qualitative research approach was utilized to code focus group notes, categorize them into themes, and compare them across specialty groups. A total of 107 individuals participated in 14 focus groups, consisting of specialists in cancer (n = 20), general genetics (n = 40), prenatal genetics (n = 11), and “other” (n = 36). Of the twelve genetic counseling outcomes themes identified, the most common across focus groups included: 1) appropriateness of testing and accuracy of results interpretation; 2) psychosocial outcomes; 3) adherence to or receipt of appropriate medical management; and 4) patient and provider knowledge. Data assessed by specialty demonstrated similarities in outcomes themes, suggesting that a common set of genetic counseling outcomes would likely be appropriate to cover the majority of needs for the profession. Results can serve as a platform from which to build a more well-defined and comprehensive set of outcomes.     

Changes in Specialists’ Perspectives on Cancer Genetic Testing,Prophylactic Surgery and Insurance Discrimination: Then and Now

We surveyed cancer genetics specialists in 1998 to learn what they would do if at 50 % risk to carry a BRCA or Lynch syndrome mutation. We chose to repeat our study 14 years later, to examine how perspectives have changed with the extensive data now available. In July 2012 we surveyed the National Society of Genetic Counselors (NSGC) Cancer Special Interest Group via an internet based survey. We found statistically significant increases in the percentage of specialists who: would undergo BRCA testing (p?=?0.0006), opt for prophylactic bilateral mastectomy (p =0.0001), opt for prophylactic removal of their uterus and ovaries for Lynch syndrome (p =0.0057 and P?=?0.0090, respectively), and bill testing to insurance (p >0.0001). There were also statistically significant decreases in the percentage of participants who would have their colon removed for Lynch syndrome (p?=?0.0002) and use an alias when pursuing testing (p?>?0.0001). Over the past 14 years there has been a major change in perspective amongst cancer genetic specialists regarding genetic testing, prophylactic surgery and insurance discrimination.     

Medical Genetics and Genetic Counseling in Chile

In the South American Republic of Chile genetic counseling is not currently recognized as an independent clinical discipline, and in general is provided by physicians with training in clinical genetics. At present only one genetic counselor and 28 clinical geneticists practice in this country of over 16 million inhabitants. Pediatric dysmorphology constitutes the primary area of practice in clinical genetics. Although the country has a universal health care system and an adequate level of health care, genetic conditions are not considered a health care priority and there is a lack of clinical and laboratory resources designated for clinical genetics services. Multiple educational, cultural and financial barriers exist to the growth and development of genetic counseling services in Chile. However, during the last 10 years increased awareness of the importance of identifying individuals at risk for inherited cancer syndromes led to growing interest in the practice of cancer genetics.     

Genetic and Environmental Influences on Adolescent Rumination and its Association with Depressive Symptoms

Rumination is an important cognitive vulnerability for adolescent and adult depression. However, little is known about the aetiological origins of rumination, as well as its association with depression. Adolescent rumination (self-report) and depressive symptoms (self- and parent-report) were assessed in 674 pairs of same-gender Chinese adolescent twins (11–17 years of age). Females accounted for 53.7 % of the sample. There were significant correlations between self-reported rumination and self-reported depression (r?=?0.41), as well as parent-reported adolescent depression (r?=?0.22). Genetic influences were significant and modest on all three measures, ranging from 24 % to 42 %. The three measures were also significantly influenced by shared environment, ranging from 20 % to 28 %, and non-shared environmental factors, ranging from 30 % to 56 %. Moreover, the genetic correlations between rumination and depression were significant (within-rater: r _g?=?0.99; cross-rater: r _g?=?0.59) and largely accounted for the phenotypic correlations (within-rater: 68 %; cross-rater: 77 %), while non-shared environmental correlations were also significant (within-rater: r _e?=?0.26; cross-rater: r _e?=?0.12) and accounted for the remainder of the phenotypic correlations (within-rater: 32 %; cross-rater: 23 %). The shared environmental correlations were non-significant. No significant gender and age differences were found in aetiological models. These findings suggest that rumination may be an endophenotype reflecting genetic risk for depression.     

Genetic Counseling Assistants: an Integral Piece of the Evolving Genetic Counseling Service Delivery Model

This study explores the potential impact of the genetic counseling assistant (GCA) position on the efficiency of the genetic counseling field, evaluates attitudes regarding expansion of the genetic counseling field to include the GCA, and presents data on GCA endeavors and GCA job tasks as reported by GCAs, certified genetic counselors (CGCs), and program directors (PDs). Data on GCA roles and attitudes toward different aspects of the GCA position were collected via surveys of CGCs who have worked with GCAs, PDs who have and have not had experience with GCAs in their programs, and GCAs. We analyzed responses from 63 individuals: 27 PDs, 22 CGCs, and 14 GCAs. GCAs’ impact on efficiency was calculated via internal analysis of genetic patient volume per genetic counselor within the University of Texas Southwestern (UTSW) patient database prior to, and since the addition of, a GCA to the practice. The response rates for PDs, CGCs, and GCAs were 27 %, 79 %, and 61 %, respectively. Every CGC stated the GCA increased their efficiency. CGCs with a GCA reported a 60 % average increase in patient volume. This figure was congruent with internal data from the UTSW cancer genetics program (58.5 % increase). Appropriate responsibilities for GCAs as reported by CGCs and PDs (>90 %) include: data entry, shipping tests, administrative tasks, research, and ordering supplies. Regarding GCAs delivering test results, there was response variation whether this should be a job duty: 42 % of CGCs agreed to GCAs delivering negative results to patients, compared to 22 % of program directors. Twenty-two percent of PDs expressed concern about the job title “Genetic Counseling Assistant.” Ninety percent of CGCs felt that GCA was a career path to becoming a CGC, compared to 42 % of PDs. Eighty-three percent of GCAs who decided to apply to CGC graduate programs were accepted. We conclude the addition of a GCA to a genetic counseling practice contributes to increased efficiency and is one way to expand the reach of the profession.     

Reproductive Endocrinologists’ Utilization of Genetic Counselors for Oncofertility and Preimplantation Genetic Diagnosis (PGD) Treatment of <Emphasis Type="Italic">BRCA1/2</Emphasis> Mutation Carriers

Genetic counselors believe fertility preservation and preimplantation genetic diagnosis (PGD) discussions to be a part of their role when counseling BRCA1/2 mutation-positive patients. This study is the first to explore reproductive endocrinologists’ (REI) practices and attitudes regarding involvement of genetic counselors in the care of BRCA1/2 mutation carriers seeking fertility preservation and PGD. A survey was mailed to 1000 REIs from Reproductive Endocrinology & Infertility (SREI), an American Society for Reproductive Medicine (ASRM) affiliate group. A 14.5 % response rate was achieved; data was analyzed using SPSS software. The majority of participating REIs were found to recommend genetic counseling to cancer patients considering fertility preservation (82 %) and consult with a genetic counselor regarding PGD for hereditary cancer syndromes (92 %). Additionally, REIs consult genetic counselors regarding PGD patient counseling (88 %), genetic testing (78 %), and general genetics questions (66 %). Two areas genetic counselors may further aid REIs are: elicitation of family history, which is useful to determine fertility preservation and PGD intervention timing (32 % of REIs utilize a cancer family history to determine intervention timing); and, interpretation of variants of uncertain significance (VOUS) as cancer panel genetic testing becomes more common (36 % of REIs are unfamiliar with VOUS). Given our findings, the Oncofertility Consortium® created an online resource for genetic counselors focused on fertility preservation education and communication strategies.     

Attitudes and Knowledge of Maternal-Fetal Medicine Fellows Regarding Noninvasive Prenatal Testing

Using cell-free DNA in maternal serum to detect fetal aneuploidy has been shown to have high sensitivity and specificity. The purpose of this study was to assess attitudes and knowledge of Maternal-Fetal Medicine (MFM) fellows regarding noninvasive prenatal testing (NIPT). A 13 question survey was sent via listserv to US-based MFM fellows. One hundred sixteen fellows responded, a 42.3 % response rate, with >75 % reporting they are comfortable ordering NIPT. Most (82 %) preferred that a patient discuss options with a provider or genetic counselor. Three common methods used to learn about NIPT were: formal educational activities (n?=?78, 69 %), self-review of the literature (n?=?76, 67 %), and discussions with peers (n?=?73, 65 %). On questions related to trisomy 21, accuracy was >70 %. However, accuracy was lower regarding use in twin pregnancies (42 %) and monosomy X screening (50 %).     

Evaluation of Breast Cancer Patients with Genetic Risk in a University Hospital: Before and After the Implementation of a Heredofamilial Cancer Unit

The identification of patients at risk for breast cancer by genetic testing has proven to reduce breast cancer mortality. In 2010, due to a lack of systematization in hereditary cancer assistance in our center, we implemented a multidisciplinary Heredofamilial Cancer Unit (HFCU). We analyze if the HFCU improved the rates of referrals and preventive management of breast cancer patients with genetic risk. We retrospectively compared family history records, referrals of high-risk patients to genetic counseling, and detection and management of patients with BRCA1/2 mutations in two cohorts of breast cancer patients diagnosed before (first period: 2007–2010) and after the creation of the HFCU (second period: 2010–2013). In the first period, 893 patients were included, and 902 were included in the second. Due to the inability to establish their genetic risk, 142 patients (15.9%) vs. 70 (7.8%) were excluded from analysis (p?<?0.001). Among the evaluable patients, 194 (25.8%) vs. 223 (26.8%) fulfilled one or more risk criteria (p?=?0.65). Family history documentation in patient’s medical records (92.4 vs. 97.8%, p?<?0.001) and referral rate (26.3 vs. 52%, p?<?0.0001) significantly increased in the second period. Eight BRCA1/2 mutations were detected among patients referred in the first period and 17 among those referred to the HFCU. The rate of preventive surgeries in patients with BRCA mutations significantly increased in the second period (25 vs. 76.5%, p?=?0.03). In conclusion, there was a clear improvement in family history records, referrals, and preventive surgeries in breast cancer patients with genetic risk after the implementation of the HFCU.