Journal of Genetic Counseling最新文献

Genetic testing is often portrayed as a neutral tool for clinical clarification. However, in the context of rare diseases, it plays a far more complex role in the moral, bureaucratic, and social experiences of patients and families. Drawing on qualitative research conducted in Chile, this article explores how genetic testing is not only a diagnostic resource but also a symbolic and institutional technology that shapes how care, legitimacy, and identity are negotiated across multiple domains. We analyze 11 narrative interviews with patients and family members affected by rare diseases, alongside 10 interviews with healthcare professionals, including geneticists and clinicians, and two hybrid forums. Using a grounded, interdisciplinary approach informed by Science and Technology Studies (STS) and medical sociology, we identify four key themes: (1) the moral resolution offered by diagnosis after long periods of uncertainty; (2) structural barriers to accessing testing, including social capital and institutional discretion; (3) the epistemic ambiguity of genetic information, especially in cases of inconclusive results; and (4) the mobilization of diagnoses beyond the clinic, including in education, legal systems, and reproductive decisions. Our findings suggest that genetic testing functions as a moral and classificatory technology: it produces recognition, redistributes responsibility, and serves as a resource for navigating fragmented care systems. For genetic counselors, this research offers insights into how patients and families interpret, act on, and negotiate the consequences of genetic information. Understanding the broader moral and institutional landscape in which testing occurs can enhance counseling practices, particularly in under-resourced or structurally unequal contexts. This study contributes to growing efforts to embed genetic counseling in a wider social and ethical framework. By attending to how genetic testing is lived, contested, and deployed, we highlight the need for a counseling practice that is attuned to both genomic data and the realities of care.

The utilization of medical imagery featuring human bodies is a common practice in educational settings and patient interactions. However, these images predominantly depict white bodies and lighter skin tones, raising questions about their inclusivity and representation. This cross-sectional quantitative study addressed this gap by assessing the diversity of medical imagery in the genetic counseling field. Participants (n = 103) completed a 43-item survey where they responded to prompts about their experiences with medical imagery, depicting Black, Indigenous, People of Color (BIPOC) bodies and white bodies within their genetic counseling (GC) role, their genetic counseling program instructor role, and during their time as genetic counseling students. In their GC role, participants were significantly more likely to see (p < 0.001) and use (p = 0.02) white imagery compared to BIPOC imagery. In both their GC and instructor roles, participants found it more difficult to find BIPOC imagery (p < 0.001) and had to put more effort into finding it (p_GC < 0.001; p_instructor = 0.001). As students, participants were more likely to have seen white imagery in their curriculum (p < 0.001). When looking for diverse imagery, participants often resorted to Google searches (n = 44) and used search terms that encompass both the medical condition and the desired race (n = 16). The most common barrier participants encountered when looking for diverse imagery was the general lack of diversity in stock photo resources (n = 61). This study sheds light on the lack of diversity in medical imagery within the genetic counseling field and emphasizes the urgent need for inclusive representation. By enhancing providers' knowledge of how conditions manifest across diverse racial and ethnic groups, diverse medical imagery can contribute to mitigating health inequalities among patients of color. Bringing attention to the resources used to educate others on human health is critical for the future development of inclusive resources, such as medical imagery.

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.

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.

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.

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.

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.

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.

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.