Journal of Genetic Counseling最新文献

People with Klinefelter syndrome (KS/XXY) may be at higher risk of gender dysphoria than the general population and gender diversity needs greater recognition and consideration in services for people affected. This study aimed to give systematic insights into experiences of gender diversity among people with KS/XXY, which could inform more person-centered care for people with KS/XXY and contribute to practical guidance for healthcare professionals. We conducted individual, semi-structured interviews with 11 adults with diagnosed KS/XXY. The verbatim interview transcripts were analyzed using experiential reflexive thematic analysis, which identified four themes: (1) Experience of gender, which described participants' experiences of exploring and negotiating their gender identity; (2) Navigating expectations, which described how participants' gender uncertainty was associated with confusion, isolation, and shame, and how fears about other people's reactions caused participants to keep their gender identity secret; (3) Testosterone assumptions, which described how participants needed more discussion and counseling before testosterone replacement therapy (TRT), and how some benefited from treatment with alternative hormones to testosterone; and (4) A different approach, which described participants' experiences of care at gender identity clinics. The findings give new insights into the gender identity journeys of people with KS/XXY, from early attempts to understand and make sense of gender, through dealing with social pressures, the development of gender identities more congruent with feelings, and experiences with hormone replacement therapy. The practice implications include that there should be improved consideration of gender identity in care for KS/XXY, better psychological support for those affected by gender diversity, and more consideration given to alternatives to testosterone-based therapies. Future research could explore the experiences of gender identity among different groups of people with KS/XXY, the development of gender identity over time, the effects of TRT on gender identity, and healthcare providers' knowledge and attitudes about gender identity and KS/XXY.

In 2011, the National Society of Genetic Counselors (NSGC) published practice resources about communicating a prenatal or postnatal diagnosis of Down syndrome (DS). However, the impact of GC adherence to those recommendations on patient experiences has been unknown. The objective of this analysis was to investigate perceived GC adherence to professional recommendations for delivering a DS diagnosis and the impact on parental diagnosis experiences and the information and support offered. Parents of children with DS born between 2016 and 2021 completed a survey distributed by 12 local DS organizations and the national DS Diagnosis Network to assess prenatal diagnosis experiences and the provision of support and information by health professionals. Participants were queried about whether their GC followed specific recommendations from the NSGC practice resource. Respondents were also invited to describe their diagnosis experience. An overall perceived adherence score was calculated (percentage of elements GC demonstrated/total number of elements). Open-ended responses were inductively coded by a GC and GC student to identify categories and to perform a sentiment analysis where 1 was completely negative, 2 was mixed/more negative, 3 was neutral, 4 was mixed/more positive, and 5 was completely positive. The GCs were blinded to participants' perceived adherence scores while performing the sentiment analysis. Of the 242 parents who completed the survey, 161 respondents answered questions about GC's perceived practice resource adherence. The median perceived adherence score was 42.9% (IQR 21.4-71.4)%. A total of 61 people provided an open-ended response about their prenatal diagnosis experience with a GC and were assigned a sentiment score. The median sentiment score was 3 (IQR 1-5). Kendall's Tau analysis showed that higher perceived practice resource adherence was associated with more positive sentiment scores. These results suggest that NSGC practice resource adherence may improve the prenatal diagnosis experiences of parents of children with DS and have the potential to improve counseling outcomes.

Understanding the prenatal screening and diagnostic tests performed during pregnancy and making a decision in line with the test results can be a complex process for pregnant individuals and their families. Therefore, this study examined pregnant individuals' genetic literacy and decisional conflict regarding prenatal screening tests. The study was conducted with 328 pregnant individuals who applied to a training and research hospital to receive antenatal care between April 05 and September 30, 2021. Research data were collected by using the "Decisional Conflict Scale," "SURE Scale," and "Genetic Literacy and Comprehension Measure." The mean age of the participants was 28.69 ± 5.48, and the mean gestational week was 25.90 ± 10.43. A statistically significant difference was found between the educational levels of the pregnant individuals and the genetic literacy and comprehension scales (p < 0.001). A statistically significant difference was found between getting information about prenatal screening tests, having a screening test and decisional conflict scale, SURE Scale, and genetic literacy and comprehension scales (p < 0.001). A weak, negative, statistically significant correlation was found between the genetic literacy and comprehension familiarity and decision conflict scales (r = -0.177, p = 0.001). It is well known that pregnant individuals have difficulty understanding and interpreting test results due to prenatal screening tests that include genetic information. In our study, approximately half of the pregnant individuals received information about prenatal screening tests. Therefore, prenatal care must include the necessary information about prenatal screening tests. The study found that as the genetic literacy of pregnant individuals increased, the conflict of decisions they experienced decreased. Accordingly, it is suggested that interventions to increase genetic literacy among pregnant individuals may be effective in reducing decisional conflict regarding prenatal screening tests.

Genetic counseling plays a crucial role in providing individuals and families with comprehensive information, support, and guidance regarding genetic conditions. This article explores the benefits of the integration of the genetic counselor (GC) professional in Portugal and based on evidence collected from two focus group comprising Portuguese medical geneticists. The findings highlight the agreement of medical geneticists on the relevancy of GCs' integration into national healthcare as well as the need for education and training programs to enhance the genetics literacy of other healthcare professionals and increase public awareness and support for genetic counseling services. By incorporating GCs and adopting some actions suggested by participants as part of a future national strategy, Portugal can improve access to personalized genetic services and empower individuals to make informed decisions about their genetic health.

Previous research has examined parents' reflections on their child's Down syndrome diagnosis based on whether the diagnosis was provided prenatally or after birth, revealing few significant differences; by comparison, few studies have examined parents' reflections on the birth of the child in relation to the timing of the diagnosis. This study was conducted to examine whether mothers differentially reported on and rated the diagnosis, birth, and most recent birthday of their child with DS based on when the diagnosis was provided. Forty-four American mothers of children with DS discussed the birth of their child, when they learned of their child's DS diagnosis, and their child's most recent birthday with a researcher. Participants also completed online questionnaires on which they rated the events and indicated how they felt about the events at the time of their occurrence and at the time of the study. The results revealed that participants who received a prenatal diagnosis of DS for their child reflected differently-and seemingly more positively-on their child's birth relative to participants who received a postnatal diagnosis. These differences were evident when considering participant ratings, emotion language used when discussing the events, and feeling states characterizing how participants felt about the events at the time of their occurrence and at the time of the study. Given these group differences, medical professionals should carefully consider the conditions under which they provide mothers with diagnostic information and support services after a child is born.

The utilization of genetics in medical care has enhanced the utility of precision medicine and hence increased the need for clinical genetic services. These services have reduced the costs and expanded the availability of genetic testing, but their use is limited in certain populations. This study explores the access to clinical genetic services for Michigan patients referred to a genetics clinic on the western side of the state. Factors included the travel distance (miles), wait time for appointment (days from the referral date to the date of first appointment), population demographics, and cultural characteristics. A retrospective record review of all aged patients (n = 568) referred to a genetics clinic in 2018 demonstrated that all patients were insured (100%), of which majority were white-non-Hispanic (90.7%), more than half were < 10 years of age at referral (53.3%), and most of them kept their first appointment (93.5%). Our analysis showed that the wait time was associated with referral non-compliance, p < 0.01. Adjusting for all variables, for each additional day in wait time, patients had 1% increased risk of not seeking clinical genetic services (OR = 1.01, 90% CI [1.01, 1.02]). Policies to encourage genetic service utilization and improve equitable access to precision health are needed. An opportunity exists for strategies that broaden and add diverse populations to those receiving genetic services.

Psychiatric genetic counseling (GC) has been associated with patient-reported increases in empowerment (perceived control, emotional regulation, and hope). We sought to evaluate the extent to which patients' psychological state at the time of GC is related to changes in empowerment. Participants with a history of major depressive disorder and/or bipolar disorder that had been refractory to treatment underwent psychiatric GC remotely from 2022 to 2023. GC was performed by four genetic counselors and included discussion of perceived causes of illness, multifactorial inheritance, and protective factors. Empowerment, depression, and anxiety were measured immediately prior to GC via online survey by the GCOS-16, PHQ-9, and GAD-7, respectively. Empowerment was re-assessed 2 weeks later. In total, 66/161 (41.0%) invited individuals completed both the baseline and follow-up surveys. Participants completing both surveys were 54.6% female, 84.8% white, and ranged in age from 22 to 78 years (mean = 54.8 years). Overall, a significant change in mean empowerment was not observed (p = 0.38); however, there were moderating effects by baseline psychological state. A multiple linear regression model incorporating PHQ-9, GAD-7 and baseline GCOS-16 score predicted change in empowerment with a large effect (F = 5.49, R² = 0.21, p < 0.01). A higher score on the PHQ-9 was associated with decreases in empowerment from pre to post GC. Higher scores on the GAD-7 and lower baseline GCOS-16 scores were associated with increases in empowerment. Further, two-way ANOVA was conducted to assess change in empowerment between subgroups based on the level of anxiety and depression. Those with low depression and high anxiety reported significant increases in empowerment (F = 6.64, p = 0.01). These findings suggest that psychiatric GC may be especially helpful to individuals experiencing anxiety and low baseline empowerment. Alternative approaches may be needed to best meet the needs of those experiencing significant depression.

Cascade testing is an imperative process to engage Lynch syndrome patients' at-risk relatives in early cancer risk reduction interventions. How genetic counselors communicate about cascade testing is crucial to patients' intentions of and actual involvement in family communication. Based on data from 20 interviews with genetic counselors, this qualitative study examined their perceptions of barriers and facilitators of offering cascade testing to at-risk relatives and the specific communication strategies they use to discuss cascade testing with patients. We identified patient-level, genetic counselor-level, and system-level barriers and facilitators of having discussions with Lynch syndrome patients about cascade testing. The qualitative data also revealed four prominent communication strategies that genetic counselors use for such discussions: build rapport, reframe the benefits of family communication, adapt communication, and provide various resources. These findings highlight genetic counselors' needs of practical and structural support to facilitate their communication about cascade testing, especially when patients are hesitant or lack resources or skills to notify at-risk relatives about cascade testing.

Although the presence of companion(s) in a genetic counseling session can positively influence session dynamics, research has found that some patients prefer to attend their appointments alone. To date, no studies have examined patient accompaniment preferences across different cultural groups in the context of genetic counseling. This quantitative study aimed to identify factors associated with individual preferences in accompaniment at cancer genetic counseling appointments in a sample (N = 130) of Hispanic/Latine (n = 29) and non-Hispanic/Latine White (n = 101) participants at a large academic medical institution. Variables examined included demographics, horizontal and vertical collectivism, and Hispanic and American acculturation. A link to an online questionnaire was emailed to patients who met four criteria: (1) identified as either Hispanic/Latine or non-Hispanic/Latine White; (2) had attended a cancer genetic counseling appointment at UCLA Health to discuss genetic testing options between October 2020 and December 2022; (3) were at least 18 years of age at the time of their appointment; and (4) indicated they were comfortable reading in Spanish or English; responses were anonymous. Logistic regression analyses identified four significant variables in the model associated with accompaniment preferences: individuals with at least one parent born outside of the US, those who attended their appointment in-person, and those with a higher horizontal collectivism score were less likely to want to attend their cancer genetic counseling appointment alone, while the converse was true among those with a higher American acculturation score. These findings highlight cultural and demographic factors that are associated with patient accompaniment preferences unrelated to ethnicity, indicating genetic counselors should not make assumptions regarding accompaniment preferences based solely on cultural or racial/ethnic background. Genetic counselors should incorporate this understanding when assessing patients' accompaniment preferences.

Advances in medical genetics have led to a significant increase in demand for genetic services and expertise across almost all medical specialties. Genetic counselors (GCs) in Canada play key roles in genetic services both within and outside of the Genetics Clinic, while not being regulated or legally recognized as healthcare professionals (HCPs) in most provinces. Understanding whether GCs outside of the "traditional" Genetics Clinic influence patient care, their level of professional autonomy and supervisory structure is, therefore, important. In this study, we explore the current landscape of GC practice outside of the Genetics Clinic by describing positions, determining the professional scope of practice, as defined by the Canadian Association of Genetic Counselors (CAGC) and Canadian Board of Genetic Counseling (CBGC) core competencies, and by elucidating associated ethico-legal implications. An online survey was developed and distributed to GCs working with patient-related data in Canada in positions outside of the Genetics Clinic through the CAGC ListServ and accessed between March 5 and April 9, 2021. Thirty GCs were included in the study, with 16/30 in public healthcare system positions. Most respondents held roles with direct (11/30) and indirect (14/30) impact on patient care and management, and the majority reported performing their primary roles with minimal supervision (56%) or complete independence (36%). Most roles (22/25) elicited by respondents were considered to be within the GC scope of practice, except for administrative tasks and special projects. GCs were the only genetics-trained professional(s) in 8/30 of respondents' workplaces. The results of the current study support the value of GCs translatable skillset in positions beyond the Genetics Clinic, and outline ethico-legal implications for GCs, regulated HCPs, patients, and health institutions in the absence of legal recognition, including medical-legal liability and title protection. This study provides evidence in support of regulation of GCs as HCPs.