Journal of Genetic Counseling最新文献

Long QT syndrome (LQTS), a rare cardiac condition that can lead to sudden death, is highly prevalent in First Nations communities of northern British Columbia. In the Gitxsan community of 5500, an estimated 1 in 125 individuals are affected, primarily due to the novel pathogenic variant p.V205M in KCNQ1. Over the past decade, more than 800 Gitxsan individuals received genetic testing and counseling for LQTS through a community-based study. Despite the substantial research characterizing the biological underpinnings of LQTS, there are few studies exploring the lived experiences of families with LQTS, especially those of Indigenous peoples. The goal of this study was to gain a greater understanding of the impact of the genetic confirmation of LQTS in this community, and the impact the condition has on individuals, their families, and the community. A qualitative study was developed in consultation with a local research advisory board and a Talking Circle, a traditional Indigenous format for discussion, was held. Four people who belonged to the same kindred group attended the Talking Circle. This article presents the multigenerational impact that LQTS and genetic diagnosis have through the reflections of one Gitxsan family. LQTS affects identity and family relationships, including those between parents and children, siblings, and even extended family members. Laughter and humor played an important part in coping. The role of family relationships for this Gitxsan family was seen to be critical in managing an LQTS diagnosis. This multigenerational perspective provides key insights into family structure and dynamics which can inform genetic counseling and clinical care. As cultural safety is experienced and therefore defined by the person receiving services, listening to the perspectives and preferences of Indigenous peoples is essential to the delivery of culturally informed care.

When an apparent de novo (new) genetic change has been identified as the cause of a serious genetic condition in a child, many couples would like to know the risk of this happening again in a future pregnancy. Current practice provides families with a population average risk of 1%-2%. However, this figure is not accurate for any specific couple, and yet, they are asked to make decisions about having another child and/or whether to have prenatal testing. The PREcision Genetic Counseling And REproduction (PREGCARE) study is a new personalized assessment strategy that refines a couple's recurrence risk prior to a new pregnancy, by analyzing several samples from the parent-child trio (blood, saliva, swabs, and father's sperm) using deep sequencing and haplotyping. Overall, this approach can reassure ~2/3 of couples who have a negligible (<0.1%) recurrence risk and focus support on those at higher risk (i.e. when mosaicism is identified in one of the parents). Here we present a qualitative interview study with UK clinical genetics professionals (n = 20), which investigate the potential implications of introducing such a strategy in genetics clinics. While thematic analysis of the interviews indicated perceived clinical utility, it also indicates a need to prepare couples for the psychosocial implications of parent-of-origin information and to support their understanding of the assessment being offered. When dealing with personalized reproductive risk, a traditional non-directive approach may not meet the needs of practitioner and client(s) and shared decision-making provides an additional framework that may relieve some patient burden. Further qualitative investigation with couples is planned.

Genetic counselors (GCs) practice in critical care settings. Some GCs have full-time inpatient roles, while most GCs who see inpatients do so as needed or on a rotating schedule in addition to seeing patients in an outpatient setting. Few studies have tracked and compared the amount of time it takes GCs to perform tasks in the inpatient and outpatient settings. Genetic counselors were invited to participate in this study via the National Society of Genetic Counselors research listserv. Participants completed an online survey asking how their role is structured and what types of support are available to them while seeing inpatients. They also performed time tracking for 16 tasks known to be associated with inpatient and/or outpatient care via RedCap. These tasks include direct patient care, care coordination, and other tasks which encapsulate a new patient encounter from beginning to end. Forty-two inpatient encounters and 26 outpatient encounters were analyzed. The total average time spent on an inpatient consult (3 h and 38.5 min) was significantly higher than the time spent on an outpatient consult (2 h and 24.7 min; p < 0.05). Individually, genetic counselors spent significantly more time on the following tasks in an inpatient setting: direct follow-up encounters, multidisciplinary team communication, results disclosure encounters, results disclosure documentation, traveling, and waiting. Follow-up encounters, traveling, and waiting happen almost exclusively in inpatient settings. Short answer prompts regarding structure of GC role and available support revealed themes including lack of inpatient role structure, challenges with balancing between inpatient and outpatient tasks, and varied institutional support. These results promote further discussion about how to support GCs who see inpatients as these roles expand. Some suggestions include increased FTE/protected time and/or GCA support specific to the inpatient role.

Genetic counseling facilitates psychological and social adaptation in clients and families. Two psychotherapeutic approaches, narrative and family therapy foster client adaptation to adverse situations and may enhance the genetic counseling process. This scoping review aimed to describe the applications of narrative therapy and family therapy in genetic counseling, and to document the actual and perceived value of these approaches in a genetic counseling setting. Nine original research articles and six commentary articles met the study inclusion criteria. Original articles reported on positive client attitudes when these approaches were applied to hereditary cancer and Huntington disease settings. Five studies applied either approach in group sessions, where safety was key to positive outcomes, including sharing lived experiences and coping strategies. Balanced utilization of structured and open elements in group sessions maximized a sense of control, while also allowing for opportunity to self-disclose. Narrative therapy interventions were time efficient and were reported to foster connection with others and shape a new adaptive narrative centered around strengths. Family therapy approaches, based on experiential family therapy, the intersystem model, object relations family therapy, and the social ecology model, required a greater time commitment, but promoted disclosure of complex feelings and diffused tension. Family therapy genogram tools were feasible in practice, easy to implement, and effective at identifying communication barriers. Commentary articles highlighted the alignment of both approaches with genetic counseling goals and their potential value in practice. Utilization of psychotherapeutic approaches can improve counselors' ability to shape sessions, enhance insight and optimize efficacy, and flexibility in moving between models can maximize impact. This review highlights the paucity of studies investigating the efficacy of these psychotherapeutic approaches in the genetic counseling context and the need for more outcomes-based research on the utilization of narrative or family therapy in genetic counseling practice.

Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are the most common inherited neuromuscular diseases. Following the identification of a pathogenic causative variant in the DMD gene of a proband, potential carriers can be informed of their risk of having offspring with the disease. Germline mosaicism is a variant that is confined to the gonads that can be transmitted to offspring and is usually reported when a non-carrier of a DMD pathogenic variant has two or more offspring carrying the variant in question. On average, one third of cases are the result of a de novo variant, and as DMD and BMD are prone to germline mosaicism, its inclusion in genetic counseling is mandatory. In this retrospective cohort study, we presented clinical data from an unpublished DMD/BMD cohort of 332 families with incidence of germline mosaicism in families with de novo transmission of 8.1%. This is also the first systematic literature review searching PubMed to provide an accurate assessment of the current literature on germline mosaicism in DMD and BMD, including 17 case reports and 20 original studies. The incidence of documented germline mosaicism in de novo event families ranged from 6.0 to 40%, with a mean of 8.3%. The estimated recurrence risk for mothers of a patient with a proven de novo causal variant ranged from 4.3 to 11%, with a mean of 5.8% for a male fetus. By providing an up-to-date and comprehensive overview of the literature, this review aims to improve our understanding of germline mosaicism in DMD and to promote the development of effective strategies and reliable data for occurrence risk assessment in genetic counseling of de novo event families.

Risk assessment models that are applied to assess the lifetime risk of cancer and pathogenic variant risk are more commonly used in Western populations. Using these models, without validation, for non-Western populations has been questioned. This study aimed to evaluate the use and consistency of the Manchester Scoring System as a risk assessment model for the Omani population. A retrospective, file-based analysis was performed on breast cancer patients seen in a genomics department over a two-year period. Personal cancer history and family history were used to analyze the Manchester scores of 409 breast and/or cancer patients. The results show that, overall, the Manchester scores were low. If this risk assessment model had been used to determine eligibility for a priori service and genetic testing decisions, 12 BRCA pathogenic cases would have been missed. At this time, the Manchester Scoring System does not seem to be the best risk assessment model for use in the Omani population, unless the eligibility threshold of ≥6 is used, which could provide a better sensitivity for the Omani population. We propose using concepts of the Manchester Scoring model to create a scoring system that is more suitable for the Omani and Arabic population.

The LGBTQIA⁺ community faces considerable health disparities. Developing and integrating LGBTQIA⁺ competencies into healthcare provider training programs is one way to promote inclusive high-quality care to potentially improve this community's health. Currently, there are no established LGBTQIA⁺-specific competencies for genetic counseling graduate programs (GCPs), so training across GCPs likely varies. This qualitative focus group-based study aimed to explore current topics related to genetic counseling (GC) for LGBTQIA⁺ patients covered in North American GCPs, their learning objectives, and LGBTQIA⁺-specific competencies that GC students (GCSs) should achieve by graduation. Eligible participants were program leaders at ACGC-accredited GCPs and/or faculty who taught LGBTQIA⁺-related content in at least one GCP over the last 5 years. A semistructured interview guide was used to conduct virtual focus groups that were recorded and transcribed. Transcripts were analyzed using reflexive thematic analysis and an inductive iterative approach that generated themes regarding what content is taught and what knowledge, attitudes, and skills GCSs should demonstrate as a result. Thirteen people participated, including nine LGBTQIA⁺ people. They represented 12 GCPs (22% of current GCPs) across the United States and Canada. Focus groups ran 73-90 min. Transcript analysis identified six themes, framed as learning objectives (LOs), and 24 subobjectives. These included recognizing the breadth of the LGBTQIA⁺ community and their lived experience with the healthcare system, demonstrating respect for and responding to patient identities to provide inclusive GC, employing strategies to mitigate social aspects that influence health care, and assessing personal biases and the impact of socialization. Participants used several teaching methods including didactic lectures, simulation, written activities, reflections, and fieldwork experiences. The six identified LOs may be a starting point for GCPs looking to develop or refine their LGBTQIA⁺ curricula. Competency-based education may enhance GCSs' abilities to provide inclusive GC to the LGBTQIA⁺ community.

Professional identity (PI) comprises attributes, beliefs, values, motives, and experiences by which people define themselves in a professional role and evolves through socialization with others in the workplace. While there have been several studies exploring the expanding roles of genetic counselors, few have specifically addressed PI. This scoping review aimed to describe the contexts in which PI has been discussed or examined in the genetic counseling literature. Articles were searched using PubMed, Scopus, and CINAHL with a priori terms including and related to PI. Articles based in the United States or Canada and of all study designs, commentaries, and speeches were included. Date of publication was not restricted. Using social identity theory (SIT) to formulate a definition of PI, multiple reviewers applied inclusion and exclusion criteria to all titles, abstracts, and full-text articles with conflicts addressed through consensus among all reviewers. A total of 5523 titles and/or abstracts were screened, and 467 full-text articles were evaluated and categorized as (1) focusing on PI specifically, (2) containing elements of PI although focused on another topic, or (3) not related to PI. Eighty-seven (87) articles were reviewed during the extraction phase. Ultimately, 41 articles were deemed to meet the agreed upon characteristics of PI. While empirical studies of PI among genetic counselors were limited, PI is being addressed in research focused on related areas, including professional development and diversity, equity, and inclusion, as well as in personal accounts, addresses, and commentaries. Sentiments regarding PI voiced by genetic counselors align with those reported among other health professionals. Given the lack of diversity in the field and rapidly expanding opportunities for genetic counselors, there is risk of some members of the profession feeling excluded, which in turn could negatively impact the collective identity of the profession and translate into impacts on patient care. Additional research regarding the PI of genetic counselors is needed.

Genetic counseling students from the United States are often interested in international summer fieldwork placements, but little is known about the hosts' perspectives when considering such requests. We sent out surveys to 132 international genetics providers (genetics clinics and genetics programs), to identify advantages, barriers and expectations for U.S.-based genetic counseling students seeking a fieldwork placement. Twenty-seven (20.4% response rate) participants from 14 different countries shared their experiences and views. Providers placed higher emphasis on teaching and benefits to students (95.2%) rather than intrinsic benefits to their programs (90.4%). Lack of American Board of Genetic Counseling's (ABGC) reciprocal recognition (30%) and cost of training (25%), were rated as the strongest barriers to hosting U.S.-based students. Surprisingly, 'Language Barrier' (20%), although mentioned in open-ended comments, was not ranked highly as a barrier. When asked about expectations of students, active participation in student-led counseling sessions under supervision was encouraged by a majority of participants (55.6%). Where most genetic counseling literature is U.S.-centric, this study reports on insights gathered from international genetics providers. Our study encourages U.S.-based programs to consider these findings when designing exchange programs and international fieldwork placements.