Juvenile Polyposis Syndrome (JPS) is a hereditary gastrointestinal polyposis condition characterized by the development of multiple juvenile-type hamartomatous polyps. Approximately half of individuals meeting clinical diagnostic criteria for JPS have an identifiable germline pathogenic variant in SMAD4 or BMPR1A, while the remaining individuals have non-informative genetic results. For pediatric cases, the proportion of children with an identifiable causative variant is likely much lower, with one study noting only 22% of pediatric patients having informative genetic testing. This qualitative study utilized surveys and interviews to explore the impact of non-informative germline genetic results for JPS on parents' understanding of their child's diagnosis and prognosis, as well as recurrence risk and familial screening uptake. Coding reliability thematic analysis of transcripts was completed through open inductive coding. Common parental experiences emerging from interviews with eight parents of seven children with JPS included emotional turmoil throughout the diagnostic process, prognostic unpredictability, and limited familial screening uptake. While the majority of participants (n = 7/8, 87.5%) correctly recalled their child's genetic testing results, those that did not receive genetic counseling (n = 3/8, 37.5%) described feeling confused and uninformed in the pre- and post-test setting. A majority of participants (n = 6/8, 75%) questioned the permanence, natural history, and severity of their child's JPS, while those with more time to cope felt greater clarity and less concern. Such parental perceptions were noted to be heavily influenced by differences in polyp burden over time, genetic testing results, and initial acceptance of the clinical diagnosis. The desire for a genetic diagnosis to increase clarity in their child's long-term management recommendations was noted by some participants (n = 2/8, 25%). Our findings highlight the importance of timely and clear education surrounding prognosis, early incorporation of a genetic counselor in the diagnostic process, and providing follow-up appointments to address misconceptions and resolve uncertainty.

Delphi studies, a type of consensus method, are instrumental in healthcare research for gathering expert perspectives, especially when conclusive evidence is not available. Developed in the 1950s, Delphi methodology is characterized by anonymity, iteration, controlled feedback, and statistical group response. The traditional Delphi method, along with its subforms, policy and decision, has been widely used across various fields, including genetic counseling. In genetic counseling, Delphi studies have been used for guideline development, curriculum design, clinical competency selection, and establishing quality metrics. The overall goal of this research methodology article is to explain the potential benefit of using a Delphi method in the field of genetic counseling and differentiate the Delphi method from other consensus methods available. Educational applications include creating curricula for Master's programs and defining competencies for clinical supervision. Delphi studies have also been used to develop core outcome sets and standardize outcome reporting measures in genetic counseling research. Quality assessment in genetic services has also been studied using Delphi studies. In addition to summarizing Delphi studies in genetic counseling, we provide an overview of the major questions to consider when constructing a Delphi protocol. We discuss common design and provide practical tips for implementation such as: who counts as an expert, how to decide how many rounds to do, how to set up the questionnaire, and how to report findings of a Delphi study. Researchers should thoughtfully consider these many points and the impacts these choices may have on their overall study results.

Duchenne muscular dystrophy (DMD) is a rare inherited, X-linked neuromuscular disorder that leads to a progressive decline in physical mobility, muscle atrophy, and premature death. Newborn screening (NBS) offers the potential for earlier diagnosis and earlier intervention, although NBS using the creatine kinase isoenzyme (CK-MM) assay may detect conditions other than DMD and lead to initial false-positive results. Early Check, a voluntary supplemental newborn screening study in North Carolina, screened 16,566 newborns for DMD over nearly 3 years. Parents and legal guardians of infants who received an initial false-positive screen result for DMD (n = 20) were interviewed about their experiences. Data were coded in NVivo using directed content analysis. Participants described feelings of stress, shock, and concern associated with receiving the initial positive screening result, and varying levels of stress and anxiety while waiting for confirmatory genomic panel testing during the follow-up period. The study genetic counselor played a critical role in sharing the initial false-positive results, answering parents'/guardians' questions, and informing them of factors other than DMD that can cause elevated CK-MM levels. Despite the stressful experience of receiving a false-positive result, parents/guardians found value in participating in Early Check, as it provided knowledge about their child's health and the opportunity for earlier intervention, if needed.

Preconception care (PCC), particularly genetic testing, is essential for improving reproductive health outcomes in high-risk families, including those with consanguineous marriages. Whole-exome sequencing (WES) has shown promise in identifying autosomal recessive disorders, yet its use in preconception screening (PCS) has not been extensively studied in regions with high consanguinity, such as Palestine. This retrospective cross-sectional study aimed to assess the diagnostic yield of WES in identifying autosomal recessive genetic disorders in consanguineous Palestinian couples, particularly those with previously undiagnosed conditions. Forty consanguineous couples were recruited from outpatient genetic clinics across Palestine between 2021 and 2024. Recruitment was conducted through referrals from primary care physicians due to a history of consanguinity, recurrent pregnancy losses or a relative with confirmed or suspected genetic disorder. The results revealed that 72.5% (29/40, 95% CI: 56.1%-85.4%) of couples carried pathogenic/likely pathogenic (P/LP) variants, with 86.2% (25/29, 95% CI: 68.3%-96.1%) being carriers of autosomal recessive conditions not previously identified within their families. Of those with positive results, 48.3% (14/29, 95% CI: 29.4%-67.5%) carried more than one P/LP variant. Incidental or secondary findings (ISFs) were observed in 7.5% (3/40, 95% CI: 1.6%-20.4%) of the couples. These findings emphasize the value of WES as a comprehensive genetic screening tool, particularly in populations with high consanguinity, and its potential to enhance preconception care and reduce the burden of genetic disorders.

Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic condition characterized by highly variable presentation, making reproductive decision-making and pregnancy care particularly complex. While previous research has focused largely on clinical outcomes, little is known about how healthcare professionals (HCPs) provide care and communicate with patients during this process. This qualitative study explores the views and experiences of HCPs in providing reproductive and pregnancy-related care for individuals with NF1. Fifteen semi-structured interviews were conducted with genetic counselors, NF specialist nurses, and clinical geneticists in the UK. Reflexive thematic analysis was used to analyze the data. HCPs described supporting informed reproductive choices as central to their role, but this was often complicated by the unpredictable nature of NF1 and varying levels of patient understanding. They emphasized the importance of discussing reproductive choices early, yet found it particularly difficult to offer clear guidance when patients had mild symptoms themselves or drew on diverse family experiences to interpret risk. These challenges were further compounded by systemic barriers, such as limited consultation time, lack of standardized communication tools, and insufficient training. This study highlights the need for more structured and consistent communication practices to support patients with NF1 during reproductive and pregnancy care. A simplified, context-specific visual tool informed by the theoretical domains framework (TDF) may enhance counseling practice.

Sudden cardiac death (SCD) in the young (<35 years) can be due to an inherited cardiovascular condition. The impact of SCD on the surviving family is significant, with high rates of symptoms of posttraumatic stress and prolonged grief. Using stakeholder codesign we developed COPE-SCD, an online community supporting families after SCD. The intervention includes a website and four online support sessions (general information on SCD, navigating uncertainty, coping with grief and loss both individually and as a family). Here, we aim to develop content and assess the acceptability of the COPE-SCD intervention. Participants were recruited from the Genetic Heart Disease Clinic, Royal Prince Alfred Hospital, Sydney, Australia and EndUCD.org, a patient organization. Website and online session content were developed. Demographic and psychological measures were collected at baseline. "Think aloud" interviews were conducted to assess the website. Online sessions were assessed with post-session questionnaires and qualitative interviews. Both interview schedules and questionnaires were mapped to seven constructs of the Theoretical Framework of Acceptability. Interviews from both arms of the study were analyzed using a deductive framework analysis. Six "think aloud" interviews were conducted to assess the website, including feedback on content and layout. Twelve participants, in two groups, completed the four online sessions. Overall, participants liked both parts of the COPE-SCD intervention, particularly the opportunity for peer support. They found the intervention acceptable when considering the seven constructs of the theoretical framework of acceptability. Further work is needed to assess the effectiveness of the intervention as it is implemented into clinical practice. The COPE-SCD intervention provides a new resource for genetic counselors and other healthcare professionals supporting families after SCD.

While direct-to-consumer genetic testing (DTC-GT) has gained significant popularity, concerns persist that the public may lack adequate information and support to make well-informed decisions and understand test results. Several types of DTC-GT are on the market, each with distinct purposes and risks. The expected user population may differ per type of DTC-GT, suggesting a need for tailored information materials. Considering six different types of DTC-GT, this paper aims to identify how people's acceptability of DTC-GT and their interest in undergoing a DTC-GT within the next year (intention) and in the future (consideration) may differ depending on individuals' characteristics or the type of DTC-GT. An online cross-sectional survey was conducted in April 2022 among Dutch adults. Generalized linear models determined factors associated with DTC-GT acceptability, consideration, and intention. Open-ended responses were analyzed using inductive content analysis in MaxQDA. Of 907 respondents, 34 (3.7%) had purchased a DTC-GT, with the majority opting for ancestry tests. Health-related tests had the highest consideration and intention but were deemed the least acceptable to undergo without a healthcare professional. Open-ended responses supported quantitative findings on the differences in acceptability, consideration, and intention across test types. Overall, few respondents intended to undergo a test within the next year. Factors influencing DTC-GT acceptability, consideration, and intention overlapped by the test type. The most common factors, age and education level, were both inversely associated with the outcomes. This study suggests that the Dutch public is mostly interested in health-related DTC-GT but does not find them acceptable without professional support. Ensuring that DTC-GT information is comprehensible for younger and less educated individuals is crucial. Genetic counselors could provide valuable expertise in developing these materials.

Polygenic risk scores (PRS), a measure that sums multiple common genetic susceptibility variants into a single burden measure, can help identify individuals at higher risk for colorectal cancer (CRC). Consequently, there is growing interest in its potential use to guide screening practices, despite the current lack of evidence-based guidelines on the clinical utility of PRS models. Therefore, there is a need to understand the potential challenges and factors associated with PRS use in primary care settings. This qualitative study explores the perceptions of healthcare providers with PRS information to guide CRC screening decisions in the primary care setting. Using an exploratory approach, we conducted semi-structured interviews with 10 healthcare providers. The socioecological model guided the development of the interview questions. Transcripts were coded based on emergent themes. A total of seven themes were identified in this study, and each was organized using the socioecological model at the individual, interpersonal, community, and organizational levels. One key finding was the limited knowledge of PRS and the distinction between PRS and genetic testing for high-penetrant germline mutations. Providers shared the need for training, education, and comprehensive clinical guidelines for the use of PRS. This study provides insights to better optimize genetic education, testing, access, and care for improved CRC screening in at-risk individuals.

In 2020, the UCLA Cancer Genetics service launched a point-of-care pilot program called GENETECA™ (GENetic Education and TEsting for CAncer) in the Pancreatic Cancer Integrated Practice Unit (PancIPU) to comply with national guidelines recommending universal germline genetic testing (gGT). We present a guide for the implementation of similar models at other institutions along with the uptake and outcomes of GENETECA. Patients with pancreatic ductal adenocarcinoma (PDAC) obtaining care at UCLA Health between August 12, 2020 and January 1, 2023 were identified through electronic medical record review. Abstracted data included patient demographics and GENETECA endpoints (gGT, opted for traditional genetic counseling visit, declined, or loss to follow up). Data were analyzed using Chi-squared testing for categorical variables and Wilcoxon rank-sum tests for non-parametric data. In 2019, prior to the implementation of GENETECA, only 9% (18/194) of patients with PDAC seen at PancIPU had pre-test counseling and gGT by cancer genetic counselors. After the implementation of GENETECA, 94% (222 out of 237) of PDAC patients were offered gGT. Approximately 80% of patients with PDAC who were offered GENETECA proceeded with testing, independent of patient age. Non-English speakers were no less likely to complete GENETECA than English-speaking patients, and no significant difference in completion was observed across races. Implementing this point-of-care, high-throughput approach significantly improved compliance with national guidelines and proved to be a cost-effective service delivery model. Its success has allowed us to procure additional financial and health system support to expand cancer genetic services across many other tumor-site specialty clinics. Our described implementation may be used as a framework for other institutions to implement similar models.

Genetic counseling often raises important questions: Does a new service delivery model improve patient outcomes? Will delivering results in a certain way reduce anxiety? Does a genetic counseling intervention in certain populations change health outcomes? While observational studies and clinical experience can suggest answers, they cannot fully rule out chance, bias, or confounding. Clinical trials, especially randomized controlled trials, are designed to minimize these influences and establish cause-and-effect. This level of rigor matters when patients, providers, policymakers, and insurers make decisions based on study findings. By leading or contributing to trials, genetic counselors can strengthen the profession's evidence base, shape policy, and determine the efficacy of different approaches to genetic counseling care. If the answer to a question could change practice or policy and is not yet backed by high-quality evidence, a clinical trial may be the most reliable and impactful way to find it. This paper serves as an introduction and guide to designing and conducting clinical trials in genetic counseling.

Li-Fraumeni syndrome (LFS) is a rare but highly penetrant cancer predisposition syndrome caused by pathogenic variants in the tumor suppressor gene TP53. Individuals diagnosed with LFS should adhere to intense surveillance programs for early tumor detection. The literature highlights several psychosocial challenges for this group. However, the scarce and mainly qualitative research on LFS families suggests that people close to individuals with LFS (e.g., partners, spouses, kin, friends) are likely also burdened by this condition. Therefore, the aim of our study was to assess their unmet supportive care needs (uSCN) as well as the psychosocial burdens and challenges they face. For this convergent mixed-methods study, first, we used validated questionnaires: the Supportive Care Needs Survey for Partners and Caregivers (SCNS P&C) to assess uSCN; the short form of the Fear of Progression questionnaire for partners (FoP-Q-SF/P); the distress thermometer (distress of last week on a scale from 0 to 10), and the corresponding problem list. Descriptive statistics were used to analyze quantitative data from a total of 43 participants. The majority reported clinically relevant levels of distress (70%) and fear of progression (56%). With respect to uSCN, "health-care services and information needs" and "emotional and psychological needs" were the most relevant. "Feelings about death" was the item that was reported as unmet the most (69%). Second, we conducted additional semi-structured telephone interviews on unmet needs and challenges with 19 of our participants, which we transcribed and analyzed via content analysis. Interviewees reported high involvement in organizing and managing life around LFS, with "emotional and problem-focused coping" strategies. Our study reveals numerous informational and emotional burdens and uSCN in partners and relatives of individuals with LFS. A familial or systemic approach to genetic counseling and health care may be beneficial for improving the well-being of individuals who are directly and indirectly affected by LFS.

The aim of this qualitative interview study was to explore the lived experiences of parents, experiencing high anxiety and poorer quality-of-life/family functioning, caring for a child with a rare and undiagnosed condition. Data analysis led to the generation of a substantial corpus of insights focusing on how parents cope with grief amidst the uncertainty surrounding their child's condition. Whereas much is known about grief related to death in pediatric cancer patients, research focusing on grief in the area of rare and undiagnosed conditions is sparse. We conducted semi-structured interviews with 24 parents of children affected by a rare and undiagnosed condition undergoing whole genome sequencing (WGS) through the Genomic Medicine Service (GMS) in England and Wales. Participants were purposively sampled based on scores to validated psychological measures. We used reflexive thematic analysis, situated within an interpretivist and post-positivist research paradigm, to explore the data. The central organizing concept was named "Navigating Grief In The Context Of Uncertainty." This overarching theme describes how these parents grieve the loss of the envisioned future they held while navigating an unpredictable reality shaped by their child's undiagnosed condition. Our findings also highlight the "potential ongoingness" of grief, although it may change over time. Parents adapt through constructive reframing, seeking meaning and acceptance, and fostering resilience all of which we found to aid in coping. Understanding the grieving process, particularly the role of uncertainty, is essential for improving the clinical support provided to families affected by rare and undiagnosed conditions and for designing future psychological intervention strategies that address parents who grieve the loss of their anticipated family life.

Telemedicine holds promise to improve accessibility of subspecialties of medicine, including clinical genetics; however, limited physical examination, technical issues, and psychosocial challenges are well-reported limitations. "Hybrid" telemedicine-combining virtual and in-person care, or involving local providers during online appointments-may help address these limitations. India's cultural diversity, unequal healthcare access, and expanding digital infrastructure make it well-suited for telemedicine; however, alternative models, including hybrid approaches, remain underexplored. This study was conducted in two parts. Part A was a retrospective chart review comparing "pure" (entirely virtual) and "hybrid" telemedicine appointments at an urban genetics clinic. The effectiveness of these models was compared by analyzing the categories of patients' established genetic diagnoses, which were either internally diagnosed (through testing at the clinic) or externally diagnosed (presenting with a prior diagnosis). The definition of established genetic diagnoses was limited to only pathogenic or likely pathogenic variants. Part B prospectively assessed patient and clinician experiences with a questionnaire. Descriptive and inferential statistics were used for analysis. Part A included 938 appointments with 739 individuals. A significantly higher proportion of internally diagnosed patients were seen via hybrid telemedicine, whereas externally diagnosed patients were more often seen via pure telemedicine. Part B included responses from 86 patients and 60 clinicians. Patients cited benefits relating to accessibility and convenience, with few citing technical issues or difficulty building rapport. Clinicians noted advantages in regional connectivity and follow-up appointments, but all reported challenges, including clinical, technical, or rapport-building difficulties. Patient-reported satisfaction exceeded clinician-reported satisfaction. These findings suggest that strategic use of hybrid models and thoughtful patient selection can address some limitations of telegenetics, while also highlighting the disparity in telemedicine experiences between patients and clinicians. This study serves as a starting point for understanding both the promise and challenges of telemedicine for genetic counseling in India.

Genetic counseling is expanding globally, yet remains underexplored in Middle Eastern contexts. In the United Arab Emirates (UAE), rapid biomedical advancements intersect with traditional sociocultural and religious norms, presenting unique contexts for clinical practice. This study explored the perspectives of genetic counselors and clinical geneticists to identify key sociocultural, ethical, and systemic factors influencing genetic counseling in the UAE. Guided by a constructivist-interpretivist paradigm, we conducted semi-structured interviews, generating a dataset from 11 professionals (seven genetic counselors, four clinical geneticists) practicing in the UAE between January and August 2024. Data were analyzed using Braun and Clarke's reflexive thematic analysis, reported in accordance with RTARG guidelines. The analysis was predominantly inductive, while the Consolidated Framework for Implementation Research (CFIR) was used deductively as a sensitizing framework for themes relating to institutional and systemic influences. Four major themes were constructed: (1) Social and cultural dynamics, including stigma, limited genetic literacy, and family-centered decision-making, influenced engagement and consent; (2) Religious perspectives: faith offered resilience but at times fostered fatalism that limited intervention; (3) Ethical considerations: autonomy, confidentiality, and informed consent were negotiated within collectivist family structures; and (4) Systemic factors, including limited interprofessional coordination, the need for UAE-specific training and time constraints. The Emirati Genome Program was described as a facilitator of awareness and management. Participants emphasized the need for culturally responsive, semi-directive counseling approaches, enhanced consent processes, and targeted community education. Our interpretive analysis underscores the need for culturally responsive, semi-directive counseling approaches that balance respect for autonomy with relational guidance. These insights provide a framework for strengthening practice, training, and policy in the UAE and may be applicable across Gulf and MENA healthcare systems with similar sociocultural dynamics.

Current reproductive guidelines call for offering expanded carrier screening (ECS) for genetic conditions. Currently available panels can include screening for carrier status of tens to hundreds of autosomal recessive and/or X-linked conditions. Clinical utility is based on alterations to reproductive decision-making, but study cohorts supporting the utility of ECS largely consist of individuals of European ancestry who are highly educated, of high income, and who often receive preconception counseling. There is a lack of research on the views of patients from diverse backgrounds. Therefore, we aimed to assess and compare perceptions of the utility of ECS and targeted carrier screening (TCS) in an ethnically, economically, and educationally diverse population. We administered a survey to obstetrics and gynecology patients in Houston, Texas in the fall of 2022. Questions regarding genetic testing, reproductive management, and demographics were asked. Of the respondents who wanted children in the future, expressed interest in knowing reproductive genetic risks, and would consider using this information to change reproductive plans (114/186, 61%), 100 indicated their test preference, with 70 (70%) preferring ECS and 30 (30%) preferring TCS. There was no statistical difference in test preference by race and ethnicity, education, income, or insurance. Eighty-one of the 114 participants provided feedback on the utility of CS, and 74/81 (91%) of them found it useful. Only 30/81 (37%) of them, however, stated that they would change their reproductive plans if identified as at-risk. Participants were more likely to change their reproductive plans if they were not pregnant (OR = 3.63; 95 CI = 1.26-10.47), had not had prior genetic testing (OR = 3.03; 95 CI = 1.02-8.95), or had higher income (OR = 1.25; 95 CI = 1.00-1.55). This heterogeneous cohort expands upon data from previous homogeneous cohorts assessing CS utility. While attitudes toward CS were favorable, its perceived utility was lower. Information on reproductive management options should be provided to patients in the preconception period, and access to reproductive services must be improved for those with lower incomes. Further insight on the perspectives of diverse populations is imperative to defining the utility of carrier screening most accurately and equitably.

This study was designed to identify outcome data for non-invasive prenatal testing (NIPT) results suggestive of an atypical sex chromosome abnormality of fetal/placental origin. A single-center descriptive case series was performed between January 1, 2022 and August 1, 2024, which identified 16 cases, 11 of which completed diagnostic testing. Of those 11 cases, only 2 were found to have detectable chromosomal abnormalities of the fetus (monosomy X and mosaic monosomy X). The majority of the 9 cases without detectable fetal chromosome abnormalities cannot be assessed for the presence of confined placental mosaicism due to the lack of CVS testing; however one confirmed case was identified. While this case series is limited in size, it highlights examples that can be used by clinicians in counseling patients about possible outcomes for these atypical NIPT results. These cases also showcase the importance of pre and post-test counseling, due to the complexity of results. Larger studies are needed to elucidate the mechanisms underlying these findings and to further guide patient counseling.

Genetic counselors (GCs) educate patients about the benefits, risks, and limitations of genetic testing. The regulatory environment governing the use of genetic data in life insurance is not uniform internationally or within the United States (US). This multinational survey assessed how cardiovascular GCs incorporate the topic of life insurance (LI) into patient discussions. An online survey was distributed to GCs currently providing care to patients with non-syndromic cardiovascular disease. Brief clinical scenarios were included to avoid participants considering ambiguous or marginal phenotypes. Respondents were 121 cardiovascular GCs from five countries. Patient phenotype was the strongest indicator of whether GCs engaged in LI discussion. For phenotype-negative pediatric and adult patient scenarios, 62% and 74% of participants would discuss LI. For phenotype-positive pediatric and adult patient scenarios, 29% and 39% of participants would discuss LI. Non-U.S. participants were more likely to discuss LI with phenotype-positive patients than U.S. participants (61% vs. 33%, p = 0.005). Participants seeing primarily adult patients were more likely to discuss LI than those seeing primarily pediatric patients, for both pediatric (44% vs. 12%, p = 0.003) and adult phenotype-positive scenarios (46% vs. 17%, p = 0.008). Most participants would discuss LI with family variant testing (91%). Many participants reported patients declining genetic testing due to fear of genetic discrimination (77%) and 21% reported patients who were denied LI due to a genetic test result. Insufficient time was an important reported reason to not discuss LI (31%). Most participants reported learning about LI considerations in graduate education and reported confidence in their knowledge and ability to learn about related laws. Patient phenotype was the primary driver of whether cardiovascular GCs discussed life insurance implications of genetic testing with their patients, regardless of the age of the patient or the nationality of the genetic counselor. This study is the first to assess this nuanced aspect of cardiovascular genetic counseling and may support GC practice decisions and education.

This study explores lay public perspectives on intrafamilial genetic risk communication, focusing on individuals who hypothetically choose not to receive genetic information, a largely overlooked population in genetic counseling research. A nested cross-sectional online survey combining both closed- and open-ended questions was used. Quantitative data included sociodemographic characteristics, family functioning as measured with the SCORE-15, genetic literacy (score range 0-4), and preferences regarding whether participants would want to be informed of a genetic risk in their family across three hypothetical scenarios (Cystic Fibrosis, Hereditary Breast and Ovarian Cancer and early-onset Alzheimer's disease). These data were analyzed using descriptive and inferential statistics. Qualitative data, consisting of open-ended responses on the reasons for not wanting to be informed, were analyzed inductively through reflexive thematic analysis. Of the 609 lay participants, 44 (7.2%) expressed a hypothetical preference not to be informed of a genetic risk in their family. Qualitative analysis of their responses revealed four main themes: (1) worry about anxiety and emotional distress in oneself and loved ones; (2) protection against psychological harm; (3) probability, uncertainty, and skepticism about preventive medicine; and (4) worry about stigma. These findings highlight the emotional, ethical, and social complexity behind the decision to decline genetic risk information and underscore the need for strategies to encourage and facilitate intrafamilial genetic risk communication that goes beyond education alone.

Globally, Indigenous people, including Aboriginal and Torres Strait Islander people in Australia, experience significantly poorer health outcomes than their non-Indigenous counterparts. In part, this can be attributed to the ongoing impacts of colonization, marginalization, and systemic discrimination. In the genomic healthcare era, Indigenous people remain underrepresented in public genetic health services, raising concerns about cultural competency and inclusivity within the genetic counseling profession. Without culturally safe and accessible genetic services, the disparities in Indigenous people's health could widen. This paper explores cultural safety within the context of genetic counseling for Aboriginal and Torres Strait Islander people in Australia. It outlines the historical, social, and cultural factors influencing engagement with healthcare, including the ongoing impacts of colonization, intergenerational trauma, and institutional racism, and discusses how these continue to shape experiences of care today. Drawing on the core competencies defined by the Human Genetics Society of Australasia (HGSA), the paper highlights how relationship building, reflective practice, client-centered counseling, and advocacy can be applied to foster culturally safe and responsive practice. Ultimately, providing culturally safe genetic counseling requires moving beyond cultural awareness and competency toward practices that empower Aboriginal and Torres Strait Islander clients, families, and communities. This includes recognizing collective decision-making processes, kinship systems, and the importance of trust and respect in clinical encounters. By embedding cultural safety at both individual and institutional levels, genetic counselors can contribute meaningfully to reducing health inequities and ensuring equitable participation in genomic healthcare for Aboriginal and Torres Strait Islander people.

Hereditary cancer syndromes are underdiagnosed due to limitations in guideline-based referral systems that rely on personal/family history and provider recognition. We evaluated the interest in, uptake of, and outcomes of genetic services by adults in an ambulatory endoscopy center to determine if population-based genetic screening could aid in hereditary cancer syndrome identification. Between February and September 2024, a hereditary cancer screening questionnaire was developed and distributed to 1010 adults at a community endoscopy clinic. The tool was based on National Comprehensive Cancer Network (NCCN) criteria and was designed to flag individuals with personal/family history suggestive of inherited cancer risk. We offered all participants a referral to genetic counseling regardless of risk. A total of 135 individuals (13.4%) expressed interest in a genetic counseling referral, with significantly higher interest among those who screened as high-risk and those who were younger: 105 (19.8%) of high-risk participants compared to 30 (6.2%) of low-risk participants (p < 0.001), and individuals under 45 years compared to those 45 and older (p < 0.002). Only 25 participants completed genetic counseling, and 11 proceeded with testing. Two individuals (18.1% of those tested) were found to have a pathogenic or likely pathogenic variant in hereditary cancer syndrome genes: ATM and NTHL1. Both met NCCN criteria but had not been previously referred for genetic counseling. Our self-administered screening tool successfully identified individuals at risk for hereditary cancer syndromes, including those who would have otherwise been missed. However, the feasibility, efficacy, and overall clinical value of population-based genetic screening in an average-risk population remain debatable given our labor-intensive process and low diagnostic yield observed in our study. Despite these challenges, our findings highlight three promising avenues to improve the identification of individuals with hereditary cancer syndromes and increase uptake of genetic services: continuing to prioritize high-risk individuals using traditional referral models, with an emphasis on improving provider education and recognition of at-risk individuals; leveraging technology to streamline risk assessment and referrals; and targeting younger populations who may be more interested and benefit from earlier intervention.

Social Determinants of Health (SDoH), such as education level, housing status, lived environment, and socioeconomic status, can create obstacles to accessing healthcare services, particularly for minoritized people and individuals with chronic health conditions. While previous research shows that addressing SDoH can lead to positive health outcomes, no studies have investigated the role of SDoH in genetic counseling. This mixed-methods study aimed to clarify if genetic counselors (GCs) are aware of SDoH, and if knowing a patient's specific SDoH would prompt GCs to change their approach to that patient's care. An online survey was sent to GCs, consisting of scenario-based questions to explore whether knowledge of a patient's SDoH information prompts changes in approaches to care. Nearly 45% of respondents reported only somewhat to no familiarity with SDoH. However, respondents with moderate to extreme familiarity with SDoH were 1.58 times more likely to modify patient care to address SDoH than those with little to no familiarity (p = 0.003). However, nearly half of the respondents reported that their electronic medical record (EMR) system does not display SDoH information. Qualitative analysis demonstrated that GCs would use SDoH information to make specific changes in counseling content, identify resources, provide referrals to services such as local resources or social work, and offer alternative service delivery methods. These preliminary findings suggest that GCs can leverage SDoH data to help patients overcome obstacles stemming from SDoH and highlight areas for improvement within healthcare systems and education. Healthcare institutions should consider effective workflows to accurately capture and display SDoH within the EMR and increase efforts surrounding SDoH education. An earlier introduction to SDoH through GC training programs could promote higher familiarity with SDoH. Together, increased SDoH awareness and easier access to information about patient-specific barriers may lead to an increase in GC-initiated interventions to address disparities stemming from SDoH.