Journal of Genetic Counseling最新文献

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.