M6 - Presymptomatic Genetic Counseling In Frontotemporal Dementia/Amyotrophic Lateral Sclerosis: A Potential Model For Genetic Testing In Neurodegenerative Disorders

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

Genetic counseling is “the process of helping people understand and adapt to the medical, psychological, and familial implications of genetic contributions to disease.” Traditionally, this process includes collecting and interpreting the family and medical history, risk assessment, a comprehensive educational process for potential genetic testing, informed consent, and psychosocial assessment and support (National Society of Genetic Counselors' Definition Task Force et al. 2006). While genetic counseling falls within the scope of many health care professionals, clinical geneticists (physicians) and masters level genetic counselors have been working in the United States for more than 40 years, providing genetic counseling primarily for single-gene conditions. Debate about what “genomic counseling” will include and who will practice it has been fueled by the transition from single-gene focused genetic counseling and testing to a full genomic medicine approach. The routine incorporation of genomic medicine will likely induce differences in the scope, approach and process of genetic counseling (Table ​(Table1).1). In this commentary, I will discuss the several areas where practice will likely change as we move toward “genomic” counseling, with a focus on the unique skills and roles that genetic counselors and clinical geneticists provide. Table 1 Changes that will impact the transition to “genomic counseling.”

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

Remarkable advances in our understanding of the genetic contributions to amyotrophic lateral sclerosis (ALS) have sparked discussion and debate about whether clinical genetic testing should routinely be offered to patients with ALS. A related, but distinct, question is whether presymptomatic genetic testing should be offered to family members who may be at risk for developing ALS. Existing guidelines for presymptomatic counseling and testing are mostly based on small number of individuals, clinical judgment, and experience from other neurodegenerative disorders. Over the course of the last 8 years, we have provided testing and 317 genetic counseling sessions (including predecision, pretest, posttest, and ad hoc counseling) to 161 first-degree family members participating in the Pre-Symptomatic Familial ALS Study (Pre-fALS), as well as testing and 75 posttest counseling sessions to 63 individuals with familial ALS. Based on this experience, and the real-world challenges we have had to overcome in the process, we recommend an updated set of guidelines for providing presymptomatic genetic counseling and testing to people at high genetic risk for developing ALS. These recommendations are especially timely and relevant given the growing interest in studying presymptomatic ALS.

Advances in amyotrophic lateral sclerosis (ALS) gene discovery, ongoing gene therapy trials, and patient demand have driven increased use of ALS genetic testing. Despite this progress, the offer of genetic testing to persons with ALS is not yet "standard of care." Our primary goal is to develop clinical ALS genetic counseling and testing guidelines to improve and standardize genetic counseling and testing practice among neurologists, genetic counselors or any provider caring for persons with ALS. Core clinical questions were identified and a rapid review performed according to Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA-P) 2015 method. Guideline recommendations were drafted and the strength of evidence for each recommendation was assessed by combining two systems: the Grading of Recommendations, Assessment, Development and Evaluation (GRADE) System and the Evaluation of Genomic Applications in Practice and Prevention (EGAPP). A modified Delphi approach was used to reach consensus among a group of content experts for each guideline statement. A total of 35 guideline statements were developed. In summary, all persons with ALS should be offered single-step genetic testing, consisting of a C9orf72 assay, along with sequencing of SOD1, FUS, and TARDBP, at a minimum. The key education and genetic risk assessments that should be provided before and after testing are delineated. Specific guidance regarding testing methods and reporting for C9orf72 and other genes is provided for commercial laboratories. These evidence-based, consensus guidelines will support all stakeholders in the ALS community in navigating benefits and challenges of genetic testing.

Genetic testing is important in the diagnosis of genetic disorders. Genetic counseling integrates the interpretation of the results of genetic testing to reach informed decisions concerning genetic disorders. Palestine has an increased incidence of genetic disorders primarily due to the continued practice of consanguineous marriage. Nevertheless, limited research has been conducted to explore public awareness regarding genetic testing and genetic counseling. The current study aimed to assess the public knowledge, attitudes, and practices of Palestinians toward genetic testing and genetic counseling. A cross-sectional study was performed using an online questionnaire that gathered information from Palestinians whose ages were 18 years or older between April and July 2024. The questionnaire gathered demographic information about the participants and assessed their genetic test usage patterns and their knowledge, practices, and attitudes toward genetic testing and counseling. A total of 1056 participants (408 males and 648 females) completed the questionnaire. The mean age of participants was 31.18 years. Sixty-seven point 6% of the participants reported their knowledge about the term genetic testing; however, only 35.5% of them knew the term genetic counseling. Knowledge of genetic testing was significantly associated with younger ages, higher levels of education, and higher income (p < 0.05). Knowledge of genetic counseling was significantly associated with higher income and was more familiar among married participants and those who underwent routine check-ups. Only 9% indicated that they underwent genetic testing which was higher among older ages, married participants, among those undergoing routine check-ups, and among participants who had hereditary disorders in their families. Among the 95 participants who had genetic tests, 52.6% of them performed it for marriage. Other reasons for undergoing genetic testing were diagnosis (22.1%), followed by carrier testing (17.9%), and predictive and pre-symptomatic testing (10.5%). Sixty-point-6% of respondents reported they would like to perform genetic testing as a predictive test for cancer risk. Participants with higher levels of education were more likely to perform cancer-predictive genetic testing (p < 0.05). Participants who were undergoing routine check-ups, those who had reported their health status as poor, and those who had hereditary disorders in their families were more likely to perform predictive cancer genetic testing. In conclusion, there is insufficient knowledge about genetic counseling among Palestinians. Despite the relatively good knowledge of genetic testing, this has not translated into appropriate practice. Genetic testing is still not widely practiced and the most common for performing it is pre-marriage testing rather than medical reasons. It is strongly recommended to increase awareness about genetic testing and genetic counseling among Palestinians. In particular, these programs should be directed toward people with lower levels of education, and toward families with a high degree of consanguinity and consequently a high incidence of genetic disorders.

PH Professional Network: Genetic Counseling and Pulmonary Arterial Hypertension

Access to cancer genetics services in Jordan is limited due to limited genetic counseling workforce, genetic testing options, and absence of formal genetic counseling training programs. As such, non-genetic counseling healthcare providers (NGCHP) are required to fill this gap and are the primary providers of genetic counseling services. Understanding their perspectives and experiences is crucial to bridge the accessibility gap of genetic counseling services in Jordan. This study assessed NGCHP’s perceived utility, comfort, and familiarity with genetic testing and counseling as well as their past genetics training and preferences for continuing education regarding genetic counseling/testing. An online questionnaire was created based on similar studies and input from the study team. Questions included: provider demographics, experience, knowledge, perceptions/attitudes, comfort, education regarding genetic counseling and testing, and hypothetical cancer genetic testing scenarios per National Comprehensive Cancer Network Guidelines. Oncology healthcare providers in Jordan were recruited through the King Hussein Cancer Center, the Jordan Oncology Society, the Jordanian Hematology Association, and LinkedIn. Knowledge was assessed by scoring the responses to questions about hypothetical patient scenarios based on National Comprehensive Cancer Network guidelines. Comparative (linear regression, Pearson, and Spearman correlation) and descriptive analysis were performed using Excel and Stata. There were 33 participants: 88% were male (n = 29,) and 61 % were physicians (n = 20) with 5 years or more of experience. Majority (n=29, 88%) of participants strongly or somewhat agreed that genetic testing is relevant to their current practice and 32 (97%) strongly or somewhat agreed that it would be increasingly useful in the future. Most participants were either very or somewhat comfortable with aspects of genetic counseling. However, there was no statistically significant correlation between level of comfortability and either years of experience (Spearman’s rho= 0.096) or age (P=0.886). The fewest participants were very comfortable with interpreting test results (n=18, 54%) or choosing the correct test (n=18, 54%). When asked specific questions related to patients’ eligibility for germline genetic testing, participants scored 76% or below in the knowledge section. Breast cancer knowledge scores were lowest for questions related to male breast cancer (40%) and triple-negative disease (60%), emphasizing the need for education and training to improve the identification and counseling of eligible patients for genetic testing. Despite minimal formal training NGCHPs are familiar with aspects of the genetic test process. However, there remains a gap in knowledge and how often they are offering or ordering genetic tests suggesting the need for dedicated genetic counseling services in resource-restricted countries. Citation Format: Lulwa El Saket, Allison L. Cirino, Eugene Wong, Sarah Spinette, Perman Gochyev, Bayan Altalla, Sarah Abdel Razeq, Hikmat Abdel Razeq. Perceptions, Attitudes, and Education of Oncology Health Care Providers Regarding Genetic Testing and Counseling in a Resource-Restricted Country [abstract]. In: Proceedings of the San Antonio Breast Cancer Symposium 2024; 2024 Dec 10-13; San Antonio, TX. Philadelphia (PA): AACR; Clin Cancer Res 2025;31(12 Suppl):Abstract nr P3-04-11.

A heritable condition is the identified cause of cancer in 5% to 10% of women with breast cancer and in 25% of women with ovarian cancer. It is critical to identify patients at risk for inherited genetic mutations to implement risk-reducing screening and interventions; however, reports in the medical literature indicate that an alarming number of patients with inherited genetic mutations do not receive recommended genetic counseling, testing, or interventions. In order to improve outcomes for these high-risk patients, barriers to genetic testing and counseling must be identified. We analyzed approximately 200 patients seen at our institution with breast or ovarian cancer who met criteria of the National Comprehensive Cancer Network for genetic counseling and testing. Of these patients, almost 70% had appropriate genetic testing and counseling. Review of the remaining 30% revealed that the largest obstacle to receiving genetic testing and/or counseling was lack of referral from the treating oncologist. Of the patients diagnosed with a pathogenic heritable mutation, most underwent appropriate risk-reducing procedures and surveillance. Thus, the initial referral to genetic counseling is the most significant barrier for at-risk patients at our institution and likely in this population at large. Additional study is needed to identify ways to improve appropriate use of genetic testing and counseling.

eP155: Genetic investigation of idiopathic short stature in the endocrinology practice: The Mayo Clinic experience

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

Genetic counseling and testing for dementia - A scoping review of patient and relatives experiences and outcomes.

Introduction: The field of genetics is rapidly expanding and people are increasingly utilizing genetic testing and counseling services. However, the current literature on genetic health topics and Filipinos remains limited, as many minority populations are not adequately studied. This study describes Filipino Americans’ attitudes and knowledge of genetic disease, genetic testing, and genetic counseling. To address these knowledge gaps and reduce the burden of health disparities, the informational needs of Filipino Americans regarding genetic disease and genetic services must be understood in order to better tailor these services and outreach methods. Methods: Fifteen semi-structured, qualitative interviews were held with individuals who self-identified as Filipino American between November 2022 and January 2023. Interviews were transcribed and coded using an iterative process. Results: Most participants were familiar with genetic disease and believed that factors such as biology, as well as cultural factors such as upbringing and food, contributed to its development. The majority of participants had previously heard of genetic testing; however, most participants either did not know much or were only familiar with ancestry direct-to-consumer genetic testing (DTC-GT). Most participants had not heard of genetic counseling and those that had heard of genetic counseling before did not understand its purpose. Overall, most participants had a positive attitude toward genetic testing and counseling. Participants identified the benefits of these services including genetic disease prevention, management, and treatment. Participants stressed the importance of educating the Filipino community and shared their ideas for how to implement outreach efforts. Discussion/Conclusion: This study found that Filipino Americans generally had a positive outlook on genetic testing and genetic counseling. We propose participant-generated ideas for outreach and education that may help inform future public health efforts that aim to educate this population about genetic disease, testing and counseling.

Talking to Parents About Genetics

10524 Background: Carriers of pathogenic variants in cancer susceptibility genes have an elevated risk of developing breast, ovarian, and other cancers.We conducted a medical record review to determine the uptake of genetic counseling and testing in a clinic-based population of women with breast cancer. Methods: Medical records of 150 women with breast cancer seen at the Karmanos Cancer Institute between January-December 2018 were reviewed to determine the proportion eligible for genetic testing according to National Comprehensive Cancer Network guidelines. We also assessed genetics referral rates, appointment completion and results of genetic testing. Using chi-square and ANOVA tests, we analyzed the association of demographic and clinical factors with eligibility and referral to genetic counseling. Results: The average age of diagnosis was 57.1 years old, with 68.7% of women diagnosed with stage I-III disease, and 31.3% diagnosed with stage IV disease. There were 91 (60.7%) women who met NCCN criteria for genetic testing, of which 46.2% ultimately underwent genetic testing. Eligible women were more likely to be younger (52.6 vs. 64.0 years old), White (75.0% vs. 54.5%), and have Medicaid (75.0%) or private insurance (72.9%) vs. Medicare (44.8%). Women who met NCCN criteria were 3.5 times more likely to be referred for genetic counseling than those that did not meet eligibility criteria. Women were also more likely to be referred if they had early-stage disease compared to stage IV (67.8% vs. 48.3%), and Medicaid or private insurance compared to Medicare (71.4%, 72.0% and 40.0%, respectively). Of eligible women, 59.3% had a genetic counseling appointment scheduled, and of those, 78.0% attended their appointment. There were no apparent differences in appointment completion based on race with similar percentages of Black and White women completing their appointments (74.0% and 77.0% respectively). Women with stage IV disease were more likely to complete their appointments (83.0%) compared to women with stages I-III (74.0%) and fewer women with Medicare completed their genetic counseling appointment (56.0%) compared to women with Medicaid (83.0%) and women with private insurance (83.0%). Among women who attended their appointment, 95.9% underwent genetic testing. Of women who had genetic testing, 8.5% had a pathogenic variant and 30.4% had a variant of unknown significance. Conclusions: The results of this study indicate that lack of genetic counseling referrals contribute to a gap between the need for and completion of genetic testing. By understanding barriers to genetic counseling and testing, future clinical initiatives could effectively improve accessibility to genetic counseling services.