Genetic Counseling Support Research Articles

Remote delivery of cancer genetic testing in veterans with metastatic prostate cancer: A Million Veteran Program study.

1541 Background: Germline pathogenic alterations are found in approximately 10% of men with metastatic prostate cancer (mPC) and can inform precision therapy, surveillance, and cancer prevention for family. National guidelines recommend germline genetic testing be offered to all men with mPC, yet uptake of testing in the community has been documented to be 10-12% with many barriers to testing. We conducted a study to determine uptake of testing using remote consenting and testing for veterans with mPC who had participated in the Department of Veteran’s Affairs (VA) Million Veteran Program (MVP). We wanted to know if remote testing could augment point-of-care counseling and ordering to increase uptake of germline testing. Methods: This prospective study enrolled veterans who participated in MVP study with a diagnosis of mPC. Veterans were contacted by mail with an option to opt-out of future contact. Those who did not opt-out were mailed information about the study and received a follow-up call to establish interest in germline testing with a CLIA-level germline test. Those expressing interest provided verbal informed consent and were mailed a saliva collection kit for a multigene cancer predisposition gene panel test. Results were disclosed by phone and mailed to the patient with genetic counseling support and were sent to the oncology provider by email, phone or both. Two research coordinators and two part-time genetic counselors provided consenting, counseling and return of results. A study evaluating facilitated communication of results to first degree relatives (FDR) and germline testing of FDR was a component of study. Results: As of 2/6/2024, 1952 veterans who were alive with an incident diagnosis of mPC were identified through MVP and did not opt out. Informational letters were sent to the home address of all eligible participants. 683 (35%) of veterans completed informed consent and 457 (23% of total original cohort) completed testing. Among the participants, 70% were White, 21% were Black, 0.5% Asian and 8% unknown, 13% had a germline pathogenic variant. Documentation of positive germline results from study in the chart reports was 58%. Of 30 results relevant for targeted therapy, 16 have received that therapy, 11 were not yet appropriate and 3 patients did not receive targeted therapy. Twenty-nine FDR were contacted and tested through the pilot study of facilitated contact and testing. Conclusions: We evaluated uptake of germline testing using a remote, VA system-wide approach to identify and offer genetic testing for veterans with mPC with access and cost issues removed. We completed germline testing at rates higher than those reported in the community with modest personnel requirements, in a diverse population of patients. Documentation of results in the electronic medical record can be improved. Remote genetic testing can augment uptake of testing in large integrated health care systems.

Remote delivery of cancer genetic testing in veterans with metastatic prostate cancer: A Million Veteran Program study.

60 Background: Germline pathogenic alterations are found in approximately 10% of men with metastatic prostate cancer (mPC) and can inform precision therapy, surveillance, and cancer prevention for family. National guidelines recommend germline genetic testing be offered to all men with mPC, yet uptake of testing in the community has been documented to be 6-12% with many barriers to testing. We conducted a study to determine uptake of testing using remote consenting and testing for veterans with mPC who had participated in the Veteran’s Administration Million Veteran Program (MVP). We wanted to know if remote testing could overcome limited point-of-care counseling and ordering to increase uptake of germline testing. Methods: This prospective study enrolled veterans who participated in MVP study with a diagnosis of mPC. Veterans were contacted by mail with an option to opt-out of further contact. Those who did not opt-out were mailed information regarding the study and received a follow-up phone call to establish interest in germline testing with a CLIA-level germline test (BROCA). Those expressing interest provided verbal informed consent and were mailed a saliva collection kit for a multigene cancer predisposition gene panel test (University of Washington). Results were disclosed by phone and mailed to the patient with genetic counseling support and was also sent to the oncology provider by email, phone or both. Two research coordinators and two part-time genetic counselors provided review of consenting, counseling and return of results. Results: As of September 17, 2023, 1952 veterans who were alive with an incident diagnosis of mPC were identified through MVP and did not opt out of further contact. Informational letters were sent to the home address of all eligible participants. 681 (22%) of veterans were reached and completed informed consent. All participants were then sent a saliva kit and 432 (63%) completed testing, with 23 tests currently pending. Among the participants, 70% were White, 21% were Black, 0.5% Asian and 8% unknown. Thirteen percent (53/409) were found to have a germline pathogenic variant. Conclusions: We evaluated uptake of germline testing using a remote, VA system-wide approach to identify and offer genetic testing for veterans with mPC with access and cost issues removed. We completed germline testing at rates significantly higher than those reported in the community with modest personnel requirements, while also reaching a more diverse population of patients. Remote genetic testing can improve uptake of testing in large integrated health care systems.

Current Practice in Counseling about Sickle Cell Disease-Modifying Therapy and Sexual and Reproductive Health

Background: Sickle cell disease (SCD) is a genetic hematologic condition affecting individuals worldwide. Advances in therapy and management, including hydroxyurea, have reduced mortality. Clinicians who care for individuals with SCD face challenges in advising patients specifically about the impacts of hydroxyurea, a disease-modifying therapy (DMT), on sexual and reproductive health (SRH). There are currently no standard guidelines for clinicians on the risks and benefits of DMT regarding SRH. This study aims to characterize clinicians' current attitudes, practices, and barriers/facilitators to initiating and counseling around hydroxyurea use and SRH. Methods: In a cross-sectional qualitative study, we recruited clinicians caring for people with SCD from a national sample of American Society of Pediatric Hematology and Oncology members. Participants completed in-depth semi-structured interviews. Interviewers collected background information about the clinician and the nature of sickle cell care provided at their center. Topics included questions about clinicians' current practice in prescribing hydroxyurea and the counseling currently offered or the counseling they would like to provide regarding hydroxyurea and SRH. Interviews were transcribed verbatim and systematically coded using applied thematic analysis in NVivo. Results: 20 clinicians completed the interview (72% women, 78% White, 61% pediatrics-trained). Participants agreed that the benefits of decreased vaso-occlusive crises and mortality outweigh the risks of hydroxyurea to fertility. Participants also noted reduced morbidity, including decreased priapism frequency, which can lead to impotence and infertility, and reduced symptoms of dysmenorrhea. Participants concurred that counseling around hydroxyurea use varies by age, and no standard guidelines exist. When starting hydroxyurea in infants at nine months of age or at any time throughout childhood, clinicians noted that families are often hesitant at this stage to make decisions about their children that may affect their future. Families may not initiate discussions about their child's future fertility, but participants agreed that addressing the benefit and risks is essential. In contrast, clinicians reported that adolescents and young adults with SCD often direct the conversation themselves. The current practice for several participants is to continue hydroxyurea in most males or consider fertility assessment before recommending cessation of therapy, and only if they have had trouble conceiving. All participants agreed that the current practice is to take patients off hydroxyurea if they become pregnant, primarily based on teratogenicity risk and best practices from oncology. Some discussed restarting it later in pregnancy for disease control. Barriers to counseling were time constraints, limited data on whether fertility risks are related to the disease and/or the DMT, lack of standard guidelines on counseling, and sparse resource availability, including multi-disciplinary OB/GYN and genetic counseling support. Conclusion: Clinicians caring for people with SCD agree that hydroxyurea is a necessary DMT. However, clinicians also recognize the limited data and knowledge regarding the impacts of hydroxyurea on critical topics for individuals with SCD, including fertility and pregnancy. Healthcare providers who treat individuals with SCD should be aware of the unique SRH needs of this population. Further study is needed to identify patient attitudes regarding hydroxyurea and fertility risk and characterize current SRH counseling and practice in emerging disease-modifying therapies, gene therapy, and transplant.

Australian healthcare professionals' perspectives on genetic counseling and genetic diagnosis in vascular anomalies.

Genomic technologies are now utilized for the genetic diagnosis of vascular anomalies. This provides the opportunity for genetic counselors to make a significant contribution to patient care for this complex disease. The aim of this study was to explore Australian healthcare professionals' perspectives on the relatively recent integration of molecular diagnostic testing for vascular anomalies, with or without genetic counseling support. Nine semi-structured interviews were conducted with Australian healthcare professionals involved in the provision of care for individuals with vascular anomalies. Thematic analysis identified six themes: (1) Molecular diagnosis is beneficial; (2) psychosocial needs can motivate families to pursue a molecular diagnosis; (3) molecular genetic testing for vascular anomalies is complex; (4) genetic service provision is not a one size fits all; (5) a client-centered approach for genetic service provision can go a long way; and (6) the value of genetic counselors. Based on our findings, implementation of a vascular anomalies genetic diagnostic program inclusive of genetic counseling may be challenging, yet such programs are likely to benefit both patients and their families, as well as healthcare professionals. As this paradigm shift unfolds, genetic counselors have an opportunity to contribute to the vascular anomaly field by educating healthcare professionals and patients, by participating in multidisciplinary clinics to support complex cases and by raising awareness regarding their practice and potential contributions.

Family Communication about Diagnostic Genetic Testing for Younger-Onset Dementia.

Younger-onset dementia (YOD) refers to onset before 65 years of age and may be associated with a genetic cause. Family communication surrounding any genetic risk is complex, and this process may be further complicated in a YOD context due to its effects on cognition, behaviour, and associated psychosocial consequences. This study aimed to investigate how individuals experience family communication about potential genetic risk and testing for YOD. Thematic analysis was performed on verbatim transcripts of nine semi-structured interviews undertaken with family members who attended a neurogenetics clinic due to a relative diagnosed with YOD. The interviews explored the participants' experiences of learning that YOD might be inherited and the ensuing family communication about genetic testing. Four key themes emerged: (1) a clinical diagnostic odyssey was common and could be a motivator for genomic testing, (2) pre-existing family tension and/or disconnection was a common barrier, (3) family members' autonomy was considered, and (4) avoidant coping strategies influenced communication. Communication regarding potential YOD genetic risk is a complicated process and may be influenced by pre-existing family dynamics, individual coping mechanisms, and a desire to promote autonomy in relatives. To promote effective risk communication, genetic counsellors should pre-emptively address family tensions that may be exacerbated in the context of genetic testing for YOD, with awareness that family strain during a preceding period of diagnostic odyssey is common. Genetic counsellors can offer psychosocial support to facilitate coping with this tension in an adaptive way. The findings also indicated the importance of extending genetic counselling support to relatives.

The Australian Reproductive Genetic Carrier Screening Project (Mackenzie's Mission): Design and Implementation.

Reproductive genetic carrier screening (RGCS) provides people with information about their chance of having children with autosomal recessive or X-linked genetic conditions, enabling informed reproductive decision-making. RGCS is recommended to be offered to all couples during preconception or in early pregnancy. However, cost and a lack of awareness may prevent access. To address this, the Australian Government funded Mackenzie’s Mission—the Australian Reproductive Genetic Carrier Screening Project. Mackenzie’s Mission aims to assess the acceptability and feasibility of an easily accessible RGCS program, provided free of charge to the participant. In study Phase 1, implementation needs were mapped, and key study elements were developed. In Phase 2, RGCS is being offered by healthcare providers educated by the study team. Reproductive couples who provide consent are screened for over 1200 genes associated with >750 serious, childhood-onset genetic conditions. Those with an increased chance result are provided comprehensive genetic counseling support. Reproductive couples, recruiting healthcare providers, and study team members are also invited to complete surveys and/or interviews. In Phase 3, a mixed-methods analysis will be undertaken to assess the program outcomes, psychosocial implications and implementation considerations alongside an ongoing bioethical analysis and a health economic evaluation. Findings will inform the implementation of an ethically robust RGCS program.

Women's responses to prenatal genetic diagnosis and attitudes to termination of pregnancy after non-invasive prenatal testing: An online survey of Western Australian women.

Non-invasive prenatal testing (NIPT) using cell-free DNA (cfDNA) has expanded from detecting chromosome aneuploidy to testing for a variety of genetic conditions, including some select single gene disorders. As next generation sequencing/whole exome sequencing technology develops, it may be possible to expand NIPT of cfDNA to identify hundreds of single gene and chromosomal disorders in a fetus, thereby increasing the complexity of pretest counselling and parental decision-making. The aim of this study was to assess the views of women on the phenotypes of genetic conditions potentially detectable with expanded NIPT that they would consider severe enough to warrant pregnancy termination. Using multiple clinical scenarios, we asked women via an online survey about the early detection of several well-described genetic phenotypes in pregnancy that in theory could be detected by expanded NIPT. Two hundred and nineteen women participated in this study. There was high support for early diagnosis and the option for termination of pregnancy in conditions perceived as severe (52-71%). Women expressed a preference for testing to be provided by general practitioners and assigned a high value to genetic counselling support (75-90%). In the case of a continuing pregnancy, women recognised the essential role of ongoing psychosocial counselling for family members and childhood early intervention programs. Women expressed clear preferences for termination of pregnancy for severe conditions and as early in gestation as feasible. Information and support from genetic counsellors are a highly valued resource in decision-making following a prenatal diagnosis of a fetal genetic abnormality.

Rates of germline genetic testing and DNA damage response mutations found through population-based recruitment of men with incident metastatic prostate cancer.

10501 Background: Approximately 10% of men with metastatic prostate cancer (mPC) have germline DNA damage response gene mutations (gDDRm), indicating candidacy for precision treatment. Consequently, national guidelines recommend germline genetic testing be offered to all men with mPC. It is currently unclear what the rates of testing are in the community, and barriers to testing are not well understood. We conducted a population-based study to better understand current rates of germline genetic testing in men with newly diagnosed mPC, and to determine whether removing major barriers of cost and access could expand uptake of germline genetic testing. Methods: This is a prospective observational study that identifies men ages 35-79y with mPC residing in a 13-county area of Washington State through the Surveillance, Epidemiology, and End Results (SEER) program (NCT04254133). Men with new diagnoses of mPC are contacted by mailed invitation and follow-up phone inquiry. Interested men are then invited to provide informed consent and complete a questionnaire about personal and family health history. A saliva collection kit for a 30-gene targeted panel of cancer predisposition genes (Color Genomics) is mailed to participants’ homes free of charge. Results are issued by phone and/or email with genetic counseling support, including discussion about cascade genetic testing if relevant. Results: As of Feb 9, 2022, 484 men with incident mPC diagnosed 1/2018-6/2021 were identified through SEER. 430 men were reached via a letter to their home address sent > 3 months after diagnosis. 175 of 430 (40.6%) men expressed interest and completed the questionnaire, the majority preferring to complete testing through mail after a phone-initiated introduction to the study. 164 of 175 men completed the consent process and were eligible. Of these 164 men, 45 (27.4%) reported prior genetic testing, and reports were requested and reviewed to ensure adequate testing. Ultimately, 121 of 164 (73.8%) participants initiated and 101/121 (83.5%) have completed genetic testing through the study. Nine percent (9/101) of participants completing testing as part of the study were found to have gDDRm. Conclusions: We used a population-based approach to understand the proportion of men with mPC undergoing germline genetic testing through clinical care, and the subsequent uptake of genetic testing when access and cost barriers are removed. The uptake of guideline-based germline genetic testing among men with mPC in the community prior to study enrollment is only 27.4%. With study interventions in the form of free testing through mail, and phone-based support, 83.5% of men in this community successfully completed testing. Further work in this study will aim to elucidate and attempt to eliminate other barriers in germline genetic testing to further improve testing rates in this community.

Unselected Women's Experiences of Receiving Genetic Research Results for Hereditary Breast and Ovarian Cancer: A Qualitative Study.

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.

Evaluating the experiences of individuals with personal health risks identified through expanded carrier screening

Expanded carrier screening (ECS) is used to identify individuals and couples at risk for having children with recessive or X-linked genetic conditions; however, personal health risks (PHR) can also be identified through this testing. There is limited data on how genetic counseling regarding PHR from ECS is perceived by the individual, or how they use this information. This study quantitatively surveyed individuals identified with these risks between September 2013 and March 2020. The 30-item survey included the validated Genomics Outcome Scale Short Form, the validated Genetic Counseling Satisfaction Scale, and original questions. Survey topics included pre-test knowledge of the possibility of discovering PHR through testing, satisfaction with pre-test education that addresses potential risks, perceived severity of PHR, empowerment by and understanding of information, anxiety levels related to their PHR, perceived genetic counseling support, and satisfaction with telehealth. A total of 416 completed surveys were analyzed using descriptive statistics, and linear and logistic regressions. The majority of participants were satisfied or extremely satisfied with pre-test education (n=328; 78.8%) and telehealth (n=329; 79.1%). However, more participants who were aware of the possibility of identifying PHR through ECS prior to testing were satisfied with pre-test education compared to those who were not aware. Additionally, a lack of prior awareness of PHR was associated with lower empowerment scores (p=.004). Those who were highly satisfied with genetic counseling were more likely to feel empowered and understand the information presented (p=.001). The majority of individuals used their PHR information following their results appointment (n=391; 94.0%). The results of this study suggest that receiving PHR information was useful and was positively influenced by both pre-test education and the genetic counseling process.

"Who Doesn't Like Receiving Good News?" Perspectives of Individuals Who Received Genomic Screening Results by Mail.

As genomic sequencing expands to screen larger numbers of individuals, offering genetic counseling to everyone may not be possible. One approach to managing this limitation is for a genetic counselor to communicate clinically actionable results in person or by telephone, but report other results by mail. We employed this approach in a large genomic implementation study. In this paper, we describe participants’ experiences receiving genomic screening results by mail. We conducted 50 semi-structured telephone interviews with individuals who received neutral genomic screening results by mail. Most participants were satisfied receiving neutral results by mail. Participants generally had a good understanding of results; however, a few participants had misunderstandings about their genomic screening results, including mistaken beliefs about their disease risk and the comprehensiveness of the test. No one reported plans to alter health behaviors, defer medical evaluations, or take other actions that might be considered medically problematic. Reporting neutral results by mail is unlikely to cause recipients distress or generate misunderstandings that may result in reduced vigilance in following recommended preventive health strategies. Nonetheless, some individuals may benefit from additional genetic counseling support to help situate their results in the context of personal concerns and illness experiences.

"They're Not Going to Do Nothing for Me": Research Participants' Attitudes towards Elective Genetic Counseling.

As applications of genomic sequencing have expanded, offering genetic counseling support to all patients is arguably no longer practical. Additionally, whether individuals desire and value genetic counseling services for genomic screening is unclear. We offered elective genetic counseling to 5110 individuals prior to undergoing sequencing and 2310 participants who received neutral results to assess demand. A total of 0.2% of the study participants accessed genetic counseling services prior to sequencing, and 0.3% reached out after receiving neutral results. We later conducted 50 interviews with participants to understand why they did not access these services. Many interviewees did not recall the availability of genetic counseling and were unfamiliar with the profession. Interviewees described not needing counseling before sequencing because they understood the study and felt that they could cope with any result. Counseling was considered equally unnecessary after learning neutral results. Although the participants had questions about their results, they did not feel that speaking with a genetic counselor would be helpful. Genomic screening efforts that employ opt-in models of genetic counseling may need to clarify the potential value of genetic counseling support from the outset and feature genetic counseling services more prominently in program materials.

Hot Topic: Should all Women with Breast Cancer Undergo Genetic Testing?

Panel testing for germline mutations in cancer patients has advanced rapidly in recent years. In breast cancer, these advances have raised questions about the indications for testing, with some groups advocating testing of all patients with breast cancer. Studies uniformly demonstrate that expanded scope of genetic testing will result in identification of more women with germline mutations. However, many challenges remain in interpretation of such broad panel testing, including limited information about the risks of second cancers conferred by most of these germline mutations and the high rates of VUS that risk causing anxiety and driving decisions towards unwarranted CPM. These challenges limit the utility of panel testing and are further compounded by lack of sufficient genetic counseling support to facilitate discussion with patients around these complex issues. For most women, the benefits of broad panel testing are limited. A tailored approach to genetic testing, based on detailed family history and tumor phenotype, remains the preferred approach.

Clinical introduction of Microsatellite instability (MSI) test for the Solid Tumors at a single institute

Abstract Backgrounds Pembrolizumab is recently approved in Japan for the microsatellite instability-high (MSI-H) solid tumor patients (pts) diagnosed with Promega panel (FALCOTM). Pembrolizumab is the first anti-tumor agent based on the biomarker, regardless of tumor types. MSI test has been performed as the screening test for the diagnosis of Lynch syndrome. However, it is not so familiar for the clinicians treating non-colorectal cancer. It is necessary to establish the in-hospital workflow and share the information and problems beyond the clinical departments as soon as possible. Methods We discussed the issue on the MSI test at the existing multidisciplinary conference which was organized to standardize the management of the immune-related adverse events (irAEs). In addition, we collaborated with the departments of pathology, clinical examination, and clinical genetic oncology. We used the MSI test itself to an inspection company outside of the hospital. Results The first case started from January 4th and a total of 142 pts received MSI test until March 7th. The origin of tumors were as follow; colorectal (n = 59), pancreas (n = 27), stomach (n = 12), cervix, uterine body and hepatobiliary tract (n = 8),prostate (n = 6) and, ovary and esophageal (n = 3), breast (n = 2) and others (n = 6). Surgical specimens were available in 94 cases (66.2%) and biopsy in 48 cases (33.8%). The results were obtained for 107 pts at the cut-off date. Among them, additional blood testswere required in 4 pts (3.7%). Due to the severe DNA degradation, one case (0.9%) could not be analyzed. Median turnaround time for the test was 15 days. Five pts (colon, n = 3/endometrial, n = 2) were found to have MSI-H and 3 were administered pembrolizumab with appropriate genetic counseling support. Conclusions We succeeded to introduce MSI test smoothly using the framework of multidisciplinary team approach. These efforts would be considered to be the basis for handling of comprehensive cancer panel in clinical practice.

Variations in prenatal screening in a US federal healthcare system: Same coverage, different options.

The Military Health System (MHS) is a federally funded organization that provides care to active duty service members and their beneficiaries. Our objective was to determine what methods of prenatal screening are used by military treatment facilities (MTFs), assess variations between institutions, and determine how practice patterns align with national recommendations. We surveyed all MTFs offering comprehensive prenatal care (n=49). Departments were asked about aneuploidy screening options, availability of diagnostic testing, and carrier screening. In all, 43 MTFs (88%) completed the survey. Most (39/43) patients were stratified based on risk (predominantly maternal age at delivery and history). The most commonly offered test was combined 1st/2nd trimester screening (59%). Sixty percent routinely offered diagnostic testing, though less than half routinely offered microarrays. The majority offered universal carrier screening for cystic fibrosis (98%) and complete blood count with screening for thalassemias and hemoglobinopathies (88%). At the time of data collection, only five facilities (12%) had implemented spinal muscular atrophy carrier screening. Considerable heterogeneity exists in prenatal aneuploidy testing and carrier screening within the MHS. Standardized guidelines, protocols, and laboratory support would improve processes across the system. Additional resources including genetic counseling support and provider education are needed.

Abstract P4-06-09: Addition of a remote genetic counselor to the breast specialist's team improves clinical decision-making

Abstract Background: There is a shortage of trained genetic counselors (GC) and often long wait times for appointments, resulting in other specialists frequently ordering genetic testing. However, non-genetic specialists, including breast surgeons, find it difficult to stay current in genetics due to rapid advances in gene discovery, expanded panel offerings, and frequent changes to professional guidelines. We tested a novel model for hereditary cancer risk assessment where breast surgeons had “on demand” access to a remote laboratory-based genetic counselor for peer to peer consultation. In this study we sought to determine the impact this model has on breast surgeons' routinely ordering genetic testing including test identification, ordering patterns, and medical management. Methods: An IRB approved multi-center prospective study involved 14 community-based breast cancer surgeons experienced with hereditary cancer risk assessment without a genetic counselor as part of their practice. Cases were all discussed with a remote Invitae GC to determine testing eligibility and selection. Physicians had the option to utilize remote GCs to discuss results or to refer to traditional genetic counseling services. Pre and post-test surveys were completed for each patient by the testing physician. To protect patient privacy, a unique case ID was used to link patient test data with identifying data. Results: A total of 192 patients were evaluated with median age of 52. Risk assessment via BRCAPRO and the Hughes Risk model were performed on 98% of patients by the physicians. 65% of patients met NCCN guidelines for testing. Pathogenic mutations were found in 14% of patients. Breast surgeons changed their test selection 21% of the time after discussion with a GC. They called to discuss results in 47% of cases and medical management changes were incorporated in 15% of these cases based on discussion with a remote GC. Conclusions: Remote GC provider support assisted physicians in facilitating customized test selection, aided in navigating challenging counseling cases, and impacted clinical management. This service may serve as a viable, effective model for 'on demand' genetic counseling support and may be a novel opportunity to expand genetic testing in a breast surgery setting. Citation Format: Rosen B, O'Leary E, Shan Y, Pat W, Peter B. Addition of a remote genetic counselor to the breast specialist's team improves clinical decision-making [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 P4-06-09.

Experience of Asian males communicating cardiac genetic risk within the family.

The genetic nature of an inherited cardiac condition (ICC) places first- and second-degree relatives at risk of cardiac complications and sudden death, even in the absence of symptoms. Communication of cardiac genetic risk information allows at-risk relatives to clarify, manage, and potentially prevent ICC-associated risks through cardiac screening. Literature regarding family communication of genetic risk information are predominantly based on Western populations, with limited insight into the Asian experience. This qualitative exploratory study provides a male perspective into the communication of ICC risks within families in Singapore. Eight male participants with clinically diagnosed cardiomyopathy, who had all received genetic counseling, were recruited. A phenomenological perspective was used to identify emergent themes from semi-structured interviews. In this study, most participants recalled their healthcare professional's emphasis on family communication. Notably, participants revealed that at-risk relatives were not accessing screening, and many described family members as currently asymptomatic and "healthy." These findings coincide with documented Asian beliefs regarding perceptions of health, which have important implications for the provision of genetic counseling support within Asian communities, especially in facilitating family communication such that at-risk relatives are informed about their ICC risks and available management options.

Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy in Australia: outcomes of 12,000 tests.

PurposeTo describe our experience of offering simultaneous genetic carrier screening for cystic fibrosis (CF), fragile X syndrome (FXS), and spinal muscular atrophy (SMA).MethodsCarrier screening is offered through general practice, obstetrics, fertility, and genetics settings before or in early pregnancy. Carriers are offered genetic counseling with prenatal/preimplantation genetic diagnosis available to those at increased risk.ResultsScreening of 12,000 individuals revealed 610 carriers (5.08%; 1 in 20): 342 CF, 35 FXS, 241 SMA (8 carriers of 2 conditions), approximately 88% of whom had no family history. At least 94% of CF and SMA carriers' partners were tested. Fifty couples (0.42%; 1 in 240) were at increased risk of having a child with one of the conditions (14 CF, 35 FXS, and 1 SMA) with 32 pregnant at the time of testing. Of these, 26 opted for prenatal diagnosis revealing 7 pregnancies affected (4 CF, 2 FXS, 1 SMA).ConclusionThe combined affected pregnancy rate is comparable to the population risk for Down syndrome, emphasizing the need to routinely offer carrier screening. The availability of appropriate genetic counseling support and a collaborative approach between laboratory teams, genetics services, health professionals offering screening, and support organizations is essential.

MG-131 Incidental germline findings in tumour molecular profiling by next generation sequencing

Objectives Molecular profiling of solid tumours using Next Generation Sequencing (NGS) aims to detect tumour-specific somatic mutations for targeted drug treatments. Parallel testing of tumour and blood samples can enable identification and verification of of tumour-specific somatic mutations. However testing blood may also reveal incidental germline variants in cancer predisposition genes. The objective of this study was to determine type and frequency of clinically relevant incidental germline variants from molecular profiling of paired tumour/blood samples. Design/methods NGS molecular profiling data of tumour/blood pairs from 467 patients (934 samples) with metastatic solid tumours enrolled in the Princess Margaret IMPACT clinical trial were reviewed. NGS testing used Illumina TruSeq Cancer Amplicon Panel (TSCAP) on the MiSeq. The TSCAP targets regions of 48 genes including 8 genes on the ACMG germline incidental list (APC, PTEN, MLH1, RET, RB1, STK11, TP53, VHL). Results Data review revealed 2 previously reported pathogenic cancer predisposition mutations: TP53 c.817C >T in a breast cancer patient, and RET c.1900T >A in a thyroid cancer patient. Three other patients had acquired mutations of JAK2 or TP53 in blood, confirmed by serial testing that likely represented secondary changes related to previous cancer treatments. In addition 93 germline variants of uncertain significance were identified; 9/93 were recurrent and may represent benign germline changes. Conclusions Solid tumour NGS molecular profiling using paired tumour/blood samples can incidentally identify pathogenic germline mutations in cancer predisposition genes. Appropriate consent and genetic counselling support is crucial for NGS tumour molecular profiling using blood/tumour pairs.

Increased genetic counseling support improves communication of genetic information in families

PurposeTo determine whether the provision of additional genetic counseling support could improve the uptake of genetic services by “at-risk” relatives of probands. MethodsThe Tasmanian Clinical Genetics Service implemented a specific counseling intervention to a cohort of patients who were diagnosed with a genetic condition with familial implications and compared this with a control cohort who had not experienced the specific counseling intervention. The study involved 150 family members in 19 different kindreds across the two cohorts. The principal outcome measure was the proportion of at-risk relatives who had made contact with the clinical genetics service within 2 years of the diagnosis in the index patient. ResultsThe proportion of at-risk relatives who made contact with the genetics service was 61% in the intervention cohort compared with 36% in the control cohort (P = 0.01). After controlling for the gender of the at-risk relatives, relatives in the intervention cohort were 2.6 times more likely to make contact with the genetics service (P = 0.02). ConclusionsThe provision of increased genetic counseling support significantly increased the proportion of at-risk relatives who made contact with the genetic service. This suggests that the communication of genetic information within families can be enhanced by the provision of increased genetic counseling support.