Abstract PO1-09-06: Patient Barriers to Genetic Counseling

Increasing genetic counseling referral rates after ovarian cancer diagnosis: Improving the quality of ovarian cancer care

Disparities in completion of genetic testing and counseling for Lynch syndrome in high-risk patients diagnosed with endometrial cancer (601)

Background: Inherited BRCA gene mutations (pathogenic variants) cause 10% of breast cancers. BRCA pathogenic variants predispose carriers to triple-negative breast cancer (TNBC); around 30% of patients with TNBC carry BRCA pathogenic variants. The 2018 NCCN Guidelines for Genetic/Familial High-Risk Assessment: Breast and Ovarian recommend genetic counseling referrals for patients with TNBC diagnosed at age ≤60 years. This study sought to describe genetic counseling referral patterns among long-term TNBC survivors at The University of Texas MD Anderson Cancer Center. Methods: This single-institution retrospective analysis of female long-term (disease-free for ≥5 years) TNBC survivors sought to determine the rate of genetic counseling referral among patients diagnosed at age ≤60 years between 1992 and 2008. Patients who underwent treatment and surveillance visits at our institution and were followed until 2017 were included. We collected BRCA pathogenic variant status among tested patients. Descriptive statistical methods and a univariate analysis were used to identify patient characteristics associated with genetic counseling referral. Results: We identified 646 female long-term TNBC survivors with a median age at diagnosis of 47 years. Of these, 245 (38%) received a recommendation for a genetic counseling referral. Among those referred, 156 (64%) underwent genetic testing, and 35% of those tested had BRCA pathogenic variants. Interestingly, among those referred, 20% declined genetic testing. The rate of genetic referrals improved over time, from 25% among TNBC survivors whose last surveillance visit was between 2011 and 2013 to 100% among those whose last surveillance visit was between 2014 or later. Younger age and premenopausal status at diagnosis and a family history of breast or ovarian cancer were associated with an increased rate of referral for genetic counseling. Conclusions: Among long-term TNBC survivors, the rate of referral to genetic counseling increased over time, and among those tested, 35% carried a BRCA pathogenic variant. Survivorship care provides an excellent opportunity to refer eligible patients for genetic counseling.

Genetic Counseling and Testing for Pulmonary Arterial Hypertension in the United States

Building the Genetic Counsellor Profession in the United Kingdom: Two Decades of Growth and Development

44 Background: In May 2013, AJ revealed to the media that she had undergone preventive double mastectomy. The actress had a family history of breast and ovarian cancer and tested positive for the BRCA1 gene mutation. Media coverage has been extensive, but it’s not clear what messages the public and professional medical staff took from this personal story that sometimes could be misleading. Methods: We conducted a retrospective review in our centre using data from the clinical database of the Familial Cancer Program in a tertiary care cancer centre. The impact of AJ’s story on genetic counseling referrals was assessed by comparing the number of referrals made 6 months before and after the story. In addition, the quality of referrals was reported by comparing the number of patients who qualified for genetic testing as defined by the Ontario Ministry of Health and Long Term Care and the ones who carried a BRCA1/2 mutation before and after the media release. Results: The number of women referred for genetic counseling increased by 85% after the release of AJ’s story (479 before versus 887 after). This translated to an increase of 99% in the number of women who qualified for a genetic testing (211 before versus 419 after). Among them, 120 and 254 women had a history of breast and ovarian cancer in their family, 16 and 37 women had a history of male breast cancer in their family, and 28 and 15 women were diagnosed with breast cancer at the age of 35 or less before and after AJ’s story respectively. Furthermore, the number of BRCA1/2 carriers identified increased by 107% (29 (14 BRCA1, 15 BRCA2) before and 60 (32 BRCA1, 28 BRCA2) after). Conclusions: This study clearly shows that the number of genetic referrals doubled after AJ’s story. Nevertheless, the quality of referral remained the same with nearly the same percentage of patients who qualified for genetic testing and who were identified as BRCA1/2 carriers. The challenge is to meet the increased demand for cancer genetic services including screening, counseling, testing, and preventive surgery. After AJ’s story the current model of genetic counseling may need to be revisited.

Prostate cancer-related genetic counseling in a safety-net healthcare setting.

INTRODUCTION: The ACG recommends an initial assessment of family history of cancer and premalignant conditions be performed for all patients evaluated in gastroenterology practices to develop a preliminary determination of risk of familial cancer predisposition. Due to the fast-paced nature of practice and a knowledge gap, providers often miss referring high-risk patients for genetic counseling. For example, less than 2% of the projected 830,000 Lynch syndrome patients in the US are aware of their mutation status. In this quality improvement project, we implemented a one-page, patient-administered survey to identify those at high risk of common hereditary cancer syndromes and facilitate appropriate referral to genetic counseling. METHODS: We created a four-question survey based on National Comprehensive Cancer Network (NCCN) guidelines for genetic testing for several hereditary cancer syndromes, including Lynch syndrome and Hereditary Breast and Ovarian Cancer syndrome. It was provided to all English-speaking patients presenting for outpatient endoscopy, who voluntarily completed the survey in the waiting area. Completed surveys were assessed for meeting criteria for referral for genetic testing. The survey was implemented on April 1, 2019, and we assessed its initial impact by comparing the number of positive surveys (i.e. meeting NCCN guidelines for referral to genetic counseling) over two months post-implementation (Apr-May 2019) with the number of genetic counseling referrals by gastroenterology providers at our institution over two months pre-implementation (Feb-Mar 2019). RESULTS: In February-March 2019, 13 genetic counseling referrals were made by gastroenterology providers at our institution. In April-May 2019, 874 surveys were completed. 330 surveys (37.8%) had responses meeting NCCN guidelines for referral for genetic counseling and a high risk of familial cancer predisposition. 481 (55%) did not meet criteria for high-risk family history, and 63 (7.2%) had indeterminate responses, requiring additional evaluation to determine risk. CONCLUSION: We created a simple, self-administered survey that identified a far larger number of endoscopy patients meeting NCCN criteria for genetic counseling referral than the number of referrals placed over a comparable timeframe prior to implementation. To address the large gap in appropriate genetic counseling referrals, we aim to create a sustainable workflow for referral from endoscopy, and plan to assess patient follow-through on these referrals.

Despite efforts to increase the availability of clinical genetic testing and counseling for Hereditary Breast and Ovarian (HBOC)-related cancers, these services remain underutilized in clinical settings. There have been few efforts to understand the public’s use of cancer genetic services, particularly for HBOC-related cancers. This analysis is based on data from the 2015 National Health Interview Survey (NHIS), a U.S.-based nationwide probability sample, to better understand the public’s use of HBOC-related clinical cancer genetic services. Bivariate analyses were used to compute percentages and examine the associations of familial cancer risk for three genetic services outcomes (ever had genetic counseling for cancer risk, ever discussed genetic testing for cancer risk with a provider, and ever had genetic testing for cancer risk). Multivariable logistic regression models were used to estimate the association of familial cancer risk and other demographic and health variables with genetic services. Most women (87.67%) in this study were at low risk based on self-reported family history of breast and ovarian cancer, 10.65% were at medium risk, and 1.68% were at high risk. Overall, very small numbers of individuals had ever had genetic counseling (2.78%), discussed genetic testing with their physician (4.55%) or had genetic testing (1.64%). Across all genetic services outcomes, individuals who were at higher familial risk were more likely to have had genetic counseling than those at lower risk (high risk: aOR = 5.869, 95% CI = 2.911–11.835; medium risk: aOR = 4.121, 95% CI = 2.934–5.789), discussed genetic testing (high risk: aOR = 5.133, 95% CI = 2.699–9.764; medium risk: aOR = 3.649, 95% CI = 2.696–4.938), and completed genetic testing (high risk: aOR = 8.531, 95% CI = 3.666–19.851; medium risk aOR = 3.057, 95% CI = 1.835–5.094). Those who perceived themselves as being more likely to develop cancer than the average woman were more likely to engage in genetic counseling (aOR = 1.916, 95% CI = 1.334–2.752), discuss genetic testing (aOR = 3.314, 95% CI = 2.463–4.459) or have had genetic testing (aOR = 1.947, 95% CI = 1.13–3.54). Personal cancer history was also a significant predictor of likelihood to have engaged in genetic services. Our findings highlight: (1) potential under-utilization of cancer genetic services among high risk populations in the U.S. and (2) differences in genetic services use based on individual’s characteristics such as self-reported familial risk, personal history, and beliefs about risk of cancer. These results align with other studies which have noted that awareness and use of genetic services are low in the general population and likely not reaching individuals who could benefit most from screening for inherited cancers. Efforts to promote public awareness of familial cancer risk may lead to better uptake of cancer genetic services.

As tumor genomic profiling (TGP) is increasingly used to help guide cancer treatment, BRCA variants, which may or may not be reflective of the germline genome, are being identified. As TGP use increases, it is becoming an important tool for referral to genetic counseling and identifying patients with hereditary cancer syndromes such as hereditary breast and ovarian cancer. This study explores genetic counseling referral patterns and germline implications of patients found to have pathogenic BRCA1/2 variants identified through TGP. Participants include patients at Huntsman Cancer Institute undergoing TGP through a single commercial laboratory between March 2014 and July 2018. A retrospective chart review was conducted for 62 patients found to have pathogenic variants (PVs) in BRCA1/2 on TGP. Data on genetic counseling referrals and uptake, germline test results, family history, and patient demographics were collected. In the study time frame, 1,899 patients underwent TGP. Testing identified 67 PVs in BRCA1 (23 variants) or BRCA2 (44 variants) in 62 patients. Thirty-five patients first received a referral to a genetic counselor following TGP with 33 patients completing genetic counseling. Of the 30 patients who pursued germline genetic testing following TGP, 11 were discovered to have a previously unknown germline BRCA PV. Nine of these patients were the first in their family diagnosed with hereditary breast and ovarian cancer. This study represents one institution's experience with genetic counseling referrals, uptake, and germline results following TGP. For some patients, TGP will be the first indicator of an underlying hereditary condition. Identifying patients with PVs (which may be germline) through TGP is an important new genetic counseling referral tool that can have important implications for the patient and their family.

eP479: Primary care providers’ use of genetic services in the Southeast United States: Barriers, facilitators, and strategies

Up to 10% of cancers may be associated with an inherited mutation that increases cancer risk. National guidelines emphasize referral for genetic counseling and testing for patients whose personal and/or family history increases their risk of having a hereditary cancer syndrome. To increase appropriate referrals for cancer genetic counseling and testing, we piloted an automated alert known as a Best Practice Advisory (BPA) in the electronic health record, Epic, to notify oncology providers when a patient had a personal and/or family history that merited referral to cancer genetics. Epic could not gather the complex clinical data needed for the referral decision automatically, necessitating staff completion of a questionnaire. After educating providers, the BPA was implemented with resources to support its use. Initial interaction with the alert was high but rapidly dwindled, resulting in questionnaire completion in 7.2% of more than 32,000 encounters and 14.9% of patients over 9 months. However, cancer genetics referrals increased 95.9% during the pilot (P < .0001), with 18.5% placed through the BPA and the rest from a non-BPA mechanism. Semistructured interviews with key stakeholders revealed not only general acceptance of the BPA concept but also barriers to completion, such as pressure to room patients quickly in the face of competing BPAs and lack of buy-in from some providers. These results suggest that provider engagement and BPA fatigue are significant obstacles to acceptance of a new automated alert. Despite interest in a tool for cancer genetics, the demand on clinical time for this complex BPA was poorly tolerated.

Background: Although there is growing consensus that clinically actionable genetic research results should be returned to participants, research on recipients' experiences and best practices for return of research results is scarce. Objective: This study explored how women in a population-based study (lifepool) experience receiving research results about actionable pathogenic variants (PVs) for hereditary breast and ovarian cancer (HBOC) using a two-step notification process with telephone genetic counseling (TGC) support. Methods: We conducted qualitative interviews with lifepool participants with an HBOC PV. We used team-based codebook thematic analysis to develop findings. Findings: Thirty-one women participated (mean age 62.5 years) on average 2.3 years (range 0.3-5.1 years) after result notification. Notification was unexpected but not traumatic and TGC support helped meet women's information and support needs. Notification with referral to a local genetics service empowered women to make informed decisions about personal and familial health. Adaptation to results over time was facilitated by three main processes: seeking information, family communication, and undertaking risk management and/or risk-reducing strategies. Conclusion: Using a two-step notification process to return clinically actionable HBOC PVs from research was well received by women in a population-based study of breast and ovarian cancer susceptibility. Having genetic counseling support with referral to local genetics services in the notification process facilitated women's feelings of empowerment and adaptation to their genetic information over time. These findings build the basis for future methods for the return of actionable genetic research results and population screening.

INTRODUCTION: It is estimated that 5% of individuals with colorectal cancer (CRC) have a mutation that increased their risk for the malignancy. Women are frequently assessed for genetic risks associated with breast cancer, however they may not be consistently screened for hereditary CRC syndromes. This study evaluated the rates of multi-generational family history documentation and subsequent referral for genetic counselling in women presenting for CRC screening at a university medical center. METHODS: A chart review evaluated all women referred to a university GI clinic for CRC screening during a 3 month period. Patient age, race and documentation of a family medical history (3+ generations) was obtained. Amsterdam II criteria, Bethesda criteria and Colorectal Cancer Risk Assessment Tool were used to determine who would qualify for genetic referral. A confidential Microsoft Excel database was generated. Analysis using Fisher’s Exact Test was performed with significance set at P < 0.05. The study was IRB approved. RESULTS: 500 medical records were reviewed. Self-reported race/ethnicity included 276 African-American (AA), 123 White, 32 Hispanic, 30 Asian, 20 other and 19 undocumented. 102 (20.4%) had a multi-generational family history. The mean age was 59.6 (range 33-89). White women were more likely to have a detailed family history documented compared to all other women (30.08% vs 16.48%; P = 0.0016). AA compared to white women less often had multi-generational family histories obtained (17.03% vs 30.08%; P = 0.0050). 64 of 500 women qualified for a genetic counseling referral with only 17 (26.56%) women referred. Those < 50 years compared to those >50 years old were more likely to be referred for genetic counselling (52.63% vs. 15.56%; P = 0.0043). CONCLUSION: While it is well recognized that women can have genetic mutations associated with breast cancer, there may not be a similar awareness of hereditary CRC syndromes. This study revealed that detailed family medical histories to assess for CRC risk were not adequately obtained in women. Despite AA women having the highest rate of CRC among all women in the nation, multi-generational family medical histories were less often obtained. Additionally, women who qualified for genetic counseling were infrequently offered referrals. While this study is limited by single institutional design, reliance upon documentation and short duration, it highlights the need for increased identification and genetic counselling referrals for women at increased risk for CRC.

1586 Background: The U.S. Preventive Services Task Force (USPSTF) recommends that women who meet family history criteria for hereditary breast and ovarian cancer (HBOC) be referred for genetic counseling. However, HBOC genetic testing is under-utilized, particularly among racial/ethnic minorities. We evaluated different methods of family history intake, including a validated family history screener, documentation in the electronic health record (EHR), and a web-based decision aid (DA). Methods: Among women undergoing screening mammography, we administered a validated family history screener to determine eligibility for BRCA genetic testing based upon USPSTF guidelines. We developed a patient-centered DA ( RealRisks) which includes modules on breast cancer risk, collection of detailed family history, and information on HBOC genetic testing. Women who met high-risk criteria for breast cancer were enrolled in an intervention trial to determine whether exposure to RealRisks increases referrals for high-risk consultations. BRCA genetic counseling/testing uptake was assessed by self-report and EHR review. Results: From November 2014 to June 2016, 3077 women completed the family history screener. Median age was 59 years (range, 29-99), including 76% Hispanic, 4% Ashkenazi Jewish, and 60% with a high school education or less. 12% met family history criteria for BRCA genetic testing based upon the family history screener, of which only 5.9% had previously undergone genetic counseling or testing. Sixty high-risk women were enrolled to access RealRisks. When family histories based upon the screener, DA, and EHR were compared, 12 (20%) had discrepancies in number of affected relatives, type of cancer, and age at diagnosis which changed eligibility for BRCA testing. Follow-up is ongoing to determine whether the DA facilitates appropriate referrals for genetic counseling. Conclusions: In a population of predominantly Hispanic and less educated women, a large proportion met USPSTF family history criteria for BRCA testing, but uptake of genetic counseling was low. Developing decision support for accurate family history intake is critical to identifying appropriate candidates for genetic referrals.