Journal of Genetic Counseling最新文献

Despite concerted and accelerated efforts to increase the knowledge of medicine and disease via clinical studies, clinical trials continue to face low enrollment for all patient groups. The dissemination of the availability of clinical trials to individuals with or at risk for hereditary disorders is critical. This study acts as a foundation in determining an unexplored role of clinical trial discussion in genetic counseling practice. Board-certified, patient-facing genetic counselors in the United States were invited to participate in an anonymous survey via the National Society of Genetic Counselors. Between February and April 2022, 157 participants (N = 157) completed the survey on clinical trial discussion with patients, barriers, and facilitators to discussing clinical trials with patients, research experience, and demographics. Survey results identified that most respondents have discussed the availability of clinical trials with a patient (85%). Almost one-third have previous research experience working for a clinical trial (30%). Most agreed that discussions of clinical trials are within the scope of genetic counseling (82%); however, one-third were not comfortable discussing them with patients (34%). Respondents who know how to find specific clinical trials (p < 0.001) were reportedly more likely to be comfortable discussing clinical trials with their patients. In addition to clinical research exposure, this study suggests that further education and training is necessary for genetic counselors to learn how to find and identify specific clinical trials for their patients. In turn, we hope for this to increase genetic counselors' comfort of clinical trial discussion.

BRCA1/2 genetic testing has become clinically important in breast cancer care, but increasing demand may put a burden on the shortage of healthcare professionals. We performed a single-center, pilot randomized controlled study to assess the effectiveness of employing a video educational tool that included standard pre-test genetic counseling elements related to BRCA1/2. Patients with operable breast cancer who met the criteria for genetic testing based on age, sex, subtype, and family history were recruited. Sixty consenting participants were randomized 1:1 and placed in groups that received either traditional face-to-face pre-test counseling or video-viewing and face-to-face decisional support. To assess decisional conflict in the participants, surveys based on the Decisional Conflict Scale (DCS) were administered two times, once immediately after intervention and again 2-4 weeks later. The time taken for counseling and confirmation of whether the participants had undergone testing were also recorded. The difference in the total DCS scores between the two groups was not significantly different for either of the survey periods, and there was no significant difference in the number of participants who underwent testing (23/30 [76.7%] vs. 26/30 [86.7%]; p = 0.51). However, the "effective decision" subscale score was significantly higher in the video group 2-4 weeks after counseling (31.01 ± 16.82 vs. 21.43 ± 16.09; p = 0.04 [mean ± SD]). The time taken for counseling was significantly shorter in the video group (8.00 ± 4.5 vs. 27.00 ± 7.61 min; p < 0.001 [median ± SD]). Our findings indicate the potential benefit of the video educational tool for providing BRCA1/2-related information. These tools may also enable healthcare professionals to spend more time supporting psychological issues. Notably, after some time, patients may question whether their decision was appropriate. Therefore, it is necessary to identify those in conflict and provide them with proper support.

A self-reported Genetic Counseling Self-Efficacy Scale (GCSES) was developed in English to measure genetic counselors' self-efficacy, a factor known to affect their job performance. This study verified the reliability and validity of the GCSES for use in Korea. The scale was translated and back-translated into Korean for cultural fit verification. Expert analysis was performed to ensure content validity. For construct validity, a confirmatory factor analysis of the six-factor structures of the GCSES and an exploratory factor analysis (EFA) of the K-GCSES were conducted. To confirm the convergent validity and discriminant validity of the items, a multitrait/multi-item matrix analysis of the relationship between items and subscales was conducted. The reliability was evaluated by examining internal consistency and test-retest reliability. A total of 62 participants were recruited from certified genetic counselors associated with the Korean Society of Medical Genetics and Genomics and from four graduate schools offering genetic counseling programs. Confirmatory factor analysis showed an inadequate fit to the original GCSES structure. Through EFA, three-factor structures were identified: "counseling competence and psychosocial skills," "genetic testing," and "information gathering." Of the original 38 GCSES items, five were removed due to low factor loadings and small inter-item correlations. The item convergent validity and discriminant validity of the Korean version of the GCSES were established, and the correlation between the subfactors showed statistical significance (0.711-0.983). Cronbach's alpha was 0.985, and the intraclass correlation coefficient ranged from 0.882 to 0.897, securing reliability. The K-GCSES has a three-factor structure with acceptable reliability and sufficient validity. Differences in the factor structure between the K-GCSES and GCSES may be due to cultural factors. K-GCSES can be used as a tool to evaluate the competence of genetic counselors and genetic counseling students in Korea and to improve the quality of professionalism and education.

Black women have a disproportionately high mortality rate from breast cancer, which is likely influenced by an intersection of environmental, cultural, economic, and social factors. Few published studies capture the experiences of Black women after a genetic diagnosis associated with increased risk for breast cancer. This study aims to explore the perspectives and experiences of Black women who carry a pathogenic variant associated with increased breast cancer risk and identify barriers to care for this population. We conducted semi-structured interviews with 16 participants with and without histories of breast cancer. The sample included representation across a range of demographic groups (e.g., income level, employment status, insurance status, and education level). Reflexive thematic analysis was the methodology used to analyze data. Five major themes emerged from participants' descriptions of their experiences during and after genetic testing: (1) searching for representation; (2) information enabling agency; (3) healthcare providers as facilitators or barriers to care; (4) self-identity impacting disclosure; and (5) evolving mental health and coping strategies. Participants identified barriers to care including challenging or misinformed healthcare providers, medical racism, and a lack of Black representation in the cancer community. This work deepens our understanding of the nuanced experiences of Black women across the continuum of cancer care, illustrates unmet needs, and provides a foundation for future research that includes the perspectives of Black women.

Although the popularity of direct-to-consumer genetic tests (DTC-GT) for disease-related purposes increased, concerns persist whether consumers make well-informed decisions about their purchase. To better target pre- and post-test information materials, this study aims to determine the characteristics of people interested in undergoing DTC-GT. In addition, it aims to determine changes in acceptability, consideration, intention, and uptake of DTC-GT since 2017. An online cross-sectional survey was conducted in April 2022 with a representative sample of the Dutch adult population. Ordinal regression models and chi-squared tests were used to determine factors associated with DTC-GT acceptability, consideration and intention, and changes in outcomes since 2017, respectively. Of the 907 included respondents, 19.3% found DTC-GT acceptable, 29.4% considered taking a DTC-GT in the future, 6.2% intended to take a test within the coming year, and 0.9% had already tested. High education was associated with lower acceptability, consideration, intention, and higher awareness. Respondents with a chronic disease were less likely to find DTC-GT acceptable. Higher consideration was associated with having a partner, adopted/stepchildren, and lower age. Compared to 2017, in 2022 more respondents found DTC-GT totally unacceptable, while more considered testing, and fewer ruled out taking a test both in the next year and the future. Education status may play an important role in people's acceptability, consideration, intention, and awareness of disease-related DTC-GT in the Netherlands. Easy-to-understand public information materials should be promoted and guidance is needed to help with decision-making and result interpretation. Future research should focus on the best way to provide responsible guidance.

Transgender, gender diverse, and intersex (TGDI) individuals face significant health disparities due to individual and systemic experiences of discrimination, impacting their access to healthcare. While clinical genetic testing has become increasingly accessible to the general population, the field of clinical genetics perpetuates a narrative of biological essentialism, which creates barriers for TGDI patients. Biological essentialism upholds that sex is a binary, fixed, and innate characteristic, a misconception that has been historically weaponized against the TGDI community in both individual experiences of discrimination and anti-trans legislation, among other systemic forms of oppression. Rejecting this discriminatory framework requires careful consideration of, and changes to, long-established practices that often go unquestioned, such as quality control metrics in genetic testing, in order to improve TGDI patients' outcomes and access to genetic services. The sex-check, comparing an individuals reported sex against their sex chromosomes, is an example of how laboratory genetics practices reinforce the narrative that sex is determined purely by chromosomal composition. Additionally, the sex-check "outs" TGDI people in clinical settings, creating a discriminatory and unsafe environment for these patients. Alternative quality control procedures and inclusive practices, such as clearer delineation of sex and gender on test requisition forms, are proposed to improve TGDI patient experiences. Genetic counselors and other clinical providers have a responsibility to address historical discrimination and advocate for changes to laboratory practice, so as to create affirming experiences for TGDI patients.

Genetic testing for hereditary cancer syndromes can provide lifesaving information allowing for individualized cancer screening, prevention, and treatment. However, the determinants, both barriers and motivators, of genetic testing intention are not well described. A survey of barriers and motivators to genetic testing was emailed to adult patients eligible for genetic testing based on cancer diagnosis who previously have not had genetic testing (n = 201). Associations between barriers/motivators with testing intention and confidence were examined first by correlation followed by multivariable linear regression model holding constant potential covariates. Seven barrier items from two domains (logistics and genetic testing knowledge) were found to significantly negatively correlate with genetic testing intention. Unexpectedly, three barrier items had significant positive correlation with genetic testing intention; these were related to family worry (passing a condition on to future generations) and testing knowledge (needing more information on the genetic testing process and what it has to offer). Ten barrier items had significant negative correlation with confidence to get a genetic test and encompassed four domains: stigma, insurance/genetic discrimination, knowledge, and cost. All motivator items were associated with intention to get a genetic test, while none were associated with confidence. Multivariable analysis yielded six total barriers (five from the knowledge domain, one from cost domain) and two motivators (relieved to know and treatment impact) that were significantly associated with genetic testing intention or confidence when controlling for demographic characteristics. These findings indicate the need for tailored interventions to amplify motivating factors and counter-message barriers to enhance patient motivation and confidence to undergo testing.

Within the health professions education system, a significant proportion of teaching and learning occurs in the clinical setting. As such, the need to measure effective teaching for accreditation standards, faculty development, merit pay, academic promotion, and for monitoring the safety of the learning environment has led to numerous universities developing instruments to evaluate teaching effectiveness in this context. To date; however, these instruments typically focus on the student perspective, despite evidence demonstrating that student evaluations of teaching (SETs) lack correlation with learning outcomes and are not a true measure of teaching effectiveness. This issue is further exacerbated in small health professional training programs, such as genetic counseling, where clinical teachers may only supervise 1-3 students per year. As a result, not only are SETs more confounded due to small sample sizes, but a direct conflict exists between respecting learner anonymity and providing timely and relevant feedback to faculty. In such contexts, even using SETs to evaluate the nature of the learning environment may be unreliable due to student concerns about identifiability and fear of retaliation for unfavorable evaluation. This paper will review the literature regarding SETs, barriers to this process within the clinical setting, and the unintended downstream consequences. Options for addressing issues related to the use of SETs will be considered, with particular focus on the process of reflection and the use of teaching consultations or peer support groups as a means to improve teaching effectiveness in this learning environment.

Genetic testing for autism has been a controversial topic within the autistic community. Opinions regarding the benefits, risks, and limitations of genetic testing often differ between autistic people, researchers, and healthcare providers. The present study sought to understand the beliefs, attitudes, and intentions to pursue genetic testing of autistic adults and compare perspectives of autistic people who have had genetic testing with those who have not. An international sample of 173 autistic adults (19 [11%] who had previously undergone autism-related genetic testing) completed an online survey with questions assessing beliefs, attitudes, and intentions to pursue genetic testing. Beliefs and attitudes about genetic testing varied widely across the sample. Autistic individuals who had received prior genetic testing had much more positive beliefs about autism-related genetic testing (d = 0.87, 95% CI [0.37, 1.36]) and attitudes toward genetic testing (d = 1.14, 95% CI [0.66, 1.61]) compared to those who had not received such testing, although there were no meaningful differences between those same groups regarding beliefs about genetic testing unrelated to autism (d = 0.02, 95% CI [-0.45, 0.49], p = 0.93). Intention to genetically test oneself or one's (hypothetical) children was also significantly predicted by autism-specific beliefs, attitudes, and prior genetic testing status. A large majority of the sample (78.6%) also agreed that autistic individuals would benefit from contact with a genetic counselor in certain situations. These findings suggest that the autistic community does not have a singular view of genetic testing, and for those Autistic individuals who are interested in pursuing genetic testing for themselves or a family member, genetic counselors have the potential to play a key role in clinical care.

Increasing numbers of fertility patients use preimplantation genetic testing for monogenic conditions (PGT-M) during in vitro fertilization (IVF). While PGT-M is primarily used to avoid implanting embryos with a monogenic condition, patients can request to transfer an embryo with the monogenic condition (positive embryo transfer), especially in cases where an IVF cycle results in no unaffected embryos. Transferring embryos with known disease-causing variants raises ethical concerns. There is limited understanding about how stakeholders in the assisted reproductive technology (ART) field approach these issues. In this study, genetic counselors were sent a survey to gather insight into their views about transferring embryos with different monogenic conditions. N = 99 genetic counselors completed the survey, 22 of whom had experience with patients requesting or deciding to transfer an embryo with a monogenic condition (positive embryo transfer experience). Most participants, including those with positive embryo transfer experience, were supportive of positive embryo transfer, regardless of the genetic condition. While participating genetic counselors were largely supportive of all patient decisions, they reported increased moral uneasiness around transferring embryos with life-limiting monogenic conditions, such as Huntington's disease. Further investigation into the experiences of genetic counselors who have experienced positive embryo transfer requests in practice can help delineate the ethical questions that ART providers face in this context and clarify how genetic counselors can contribute to establishing guidelines in the ART field.