Journal of Genetic Counseling最新文献

The concept of patient engagement has been widely studied for decades in the fields of medicine, nursing, psychology, social science, public health, and policy, and increased levels of patient engagement have been shown to improve health outcomes and strengthen reported experiences of care. Despite this, little research has been done to evaluate what patient engagement looks like within the context of a genetic counseling session. Additionally, there is limited literature from researchers based in the United States that aims to better understand patient engagement in non-English-speaking populations. This study is part of a larger protocol entitled "Multilingual Education Research in Genetic counseling Engagement (MERGE)," and it explores the elements that make up patient engagement in the context of pre-test genetic counseling for hereditary cancer risk among English- and Spanish-speaking patients. Eligible patients were 18 years or older at the time of their genetic counseling visit, had a personal or family history of breast cancer (if English-speaking) or a personal or family history of any cancer (if Spanish-speaking), and had not previously been seen for hereditary cancer genetic counseling. Out of 40 enrolled participants, 60% of patients (24/40) were English-speaking, while 40% of patients (16/40) were Spanish-speaking. In this study, English transcripts were generated from audio-recordings of clinical, standard-of-care genetic counseling sessions. The transcripts were qualitatively coded by two raters using an inductive approach, allowing for big Q thematic analysis. Six major themes were identified, describing ways in which patients show engagement and participate in decision-making during a pre-test genetic counseling session. All data were analyzed collectively, as assessment of differences between the language groups was not a primary analysis question. From the six themes, a definition of patient engagement in genetic counseling is proposed such that it consists of four "components" that together promote shared decision-making: Application of Education; Expression of Emotions; Feelings of Ownership; and Therapeutic Alliance. This working definition of patient engagement in genetic counseling has overlap with previous research on patient engagement in healthcare and with the Reciprocal-Engagement Model of genetic counseling. Future research on this topic can investigate methods for measuring and improving patient engagement across different settings and service delivery models.

As direct-to-consumer genetic testing (DTC-GT) grows in popularity, the unanticipated "Not Parent Expected" (NPE) result has become more prevalent. An NPE result is the discovery that one parent, often the father, is not a biological parent. This study explores the impact of making an NPE discovery through DTC-GT. Twenty-five participants were interviewed and transcripts were analyzed using thematic analysis. NPE discovery had an impact on participants' personal identity. They frequently reported having experienced grief and loss among other emotions whether the discovery confirmed a participant's prior suspicions or was unexpected. Strained parent/child relationships prior to the NPE discovery and further negative impact on the relationship after DTC-GC were common themes. Connection to newly identified biological parents and family was a common goal reported by many participants, with mixed outcomes of such connections. Further research will assist in deepening our understanding and confirming the findings of this study.

"Imposter syndrome" is a term used to describe feelings of pervasive self-doubt despite evident success. It is the lay version of "imposter phenomenon," a concept that was proposed as an explanation for why highly accomplished (mostly white and middle- to upper-class) women persisted in believing that their success was due to luck or a mistake despite evidence to the contrary. However, the experience of imposter syndrome in genetic counseling, particularly among Black, Indigenous, and People of Color (BIPOC) individuals, remains underexplored. This study investigates the etiologies and impacts of imposter syndrome among BIPOC genetic counseling students with the aim of elucidating how the term is used and identifying potential interventions. We conducted semi-structured interviews with 26 participants who were part of a longitudinal constructivist grounded theory study investigating the training experiences of BIPOC genetic counseling students. Using reflexive thematic analysis, we constructed themes related to self-doubt, classroom and clinical performance, identity, and disclosing imposter syndrome feelings to others. Participants described imposter syndrome as arising from concerns that they were unprepared for their training program, less qualified than their peers, or admitted by accident or due to their BIPOC identity. Some participants attributed imposter syndrome to being a BIPOC student in a predominantly white profession. Comparisons to classmates and practicing genetic counselors, academic struggles, and anxiety about clinical rotations exacerbated imposter syndrome. Our findings underscore the multifaceted nature of imposter syndrome among BIPOC genetic counseling students and the need for a multipronged approach to mitigate its harmful effects. For BIPOC students, training programs should recognize that imposter syndrome is intertwined with racial inequities within the field that position them as imposters. We propose that supportive relationships with classmates, BIPOC mentors, and other BIPOC students can reduce imposter syndrome and enhance student well-being and academic success.

Trauma-informed practice (TIP) is an emerging model of care that acknowledges the widespread impact of trauma and emphasizes both physical and psychological safety for consumer and provider. It is being increasingly integrated into models of healthcare delivery, organizational policies, and practices, and has been shown to improve clinical interactions, increase treatment adherence, and improve healthcare outcomes. However, to date, TIP has not yet been systematically integrated into genetic counseling training and practice. In this study, using the RISE2 Genomics reporting standard, we present the outcomes of developing and evaluating a TIP workshop designed and delivered for genetic counselors in New South Wales, Australia. This workshop was the first of its kind and addressed the unique clinical and psychosocial challenges that genetic counselors face, including the risk of vicarious trauma and the high rates of burnout in the profession. The workshop aimed to enhance genetic counselors' understanding of trauma and its effects, provide practical strategies for communication and engagement with trauma-affected individuals, and offer guidance on incorporating TIP into clinical practice. Genetic counselors who participated in the TIP training expressed strong appreciation for the workshop and reported increased awareness of the ubiquity of trauma and the presentation of traumatic responses, and increased self-perceived knowledge and confidence in providing trauma-informed care. Additionally, participants were interested in ongoing TIP professional development and the integration of TIP into models of genetic counseling and professional practice. As the field of genetic counseling continues to evolve, we suggest that integrating TIP into training, professional development, and practice will not only improve client outcomes but also reduce rates of vicarious trauma and burnout among genetic counselors. This study is the first to consider the educational needs and the incorporation of TIP into genetic counseling practice, and in doing so, it paves the way for future research and policy development that integrates TIP into models of genetic counseling.

The rising demand for genetic counseling has prompted the implementation of various innovative service delivery models, such as patient webinars, videos, chatbots, and the integration of genetic testing into mainstream healthcare. To ensure patients receive adequate information for informed decision-making, validated measures to assess these models are essential but currently limited in the setting of inherited heart disease. We aimed to develop and initiate validation of a cardiac knowledge scale, as part of the Multidimensional Model of Informed Choice measure, to assess whether patients (probands and family members) with inherited cardiomyopathies, arrhythmias, and aortopathies are provided with sufficient knowledge to make informed decisions about genetic testing. Content expert genetic counselors identified eight core concepts addressed during genetic counseling sessions; from these, eight true/false knowledge questions were created. Questions were reviewed by 22 international cardiac genetics counselors with additional changes made. Initial validation steps of the knowledge scale were conducted at two sites: the Edmonton Medical Genetic Clinic, University of Alberta Hospital in Edmonton, Canada, and the Genetic Heart Disease Clinic, Royal Prince Alfred Hospital in Sydney, Australia. Face validity was evaluated through nine patient interviews, resulting in minor revisions to four questions and major revisions to one question. An additional five patient interviews were conducted to evaluate the revised questions. The core concepts addressed in each question were further evaluated in the context of patient decision-making about genetic testing. All participants described the eight concepts as either helpful or essential in their decision-making process. The cardiac knowledge scale is a promising measure created to evaluate the informed choice of patients and their families affected by an inherited heart condition. The next step of validation includes trialing the cardiac knowledge scale with a real-world sample of patients deciding about genetic testing for inherited heart disease.

Germline genetic testing has been increasingly conducted for treatment implications in patients with prostate cancer due to the expansion of testing eligibility. Understanding patients' comprehension of genetic results is crucial for establishing effective result disclosure practices. This importance has grown due to the increasing prevalence of negative genetic results being conveyed via electronic communication and by providers without a genetics specialization. This study explores patients with prostate cancer's perceptions of genetic results communication. We analyzed 24 qualitative, semi-structured interviews with patients with prostate cancer at an urban safety-net hospital who had genetic results documented in their medical records. Interview questions focused on patient experiences with genetic referrals, genetic counseling, and genetic result disclosure. Audio recordings were professionally transcribed and analyzed by the study team utilizing an inductive thematic approach to generate themes from recurring codes. Of those who participated, 18 were interviewed in English, 5 in Spanish, and 1 in Haitian Creole. No participants reported having a pathogenic variant identified with genetic testing. Study participants identified a number of gaps in results communication which led to misconceptions regarding hereditary cancer risk. Three themes were generated: (1) Patients desired clear communication about the next steps after genetic testing, (2) Patients commonly experienced cognitive dissonance with negative genetic results given personal and family history of cancer, and (3) Patients felt reassurance from negative genetic results. This research suggests that maintaining conversations between patients and healthcare providers alongside the delivery of negative results assists in patient comprehension. Additionally, it is essential to evaluate the accessibility and appropriateness of notes and results sent to patients. Ultimately, understanding communication barriers in genetic results return is imperative in order to provide high-quality genetic care.

Despite affecting a small portion of the population, rare conditions have a significant impact, collectively affecting around 300 million people worldwide. Historically, early diagnosis has been impeded by failure to recognize rare conditions and order/refer for appropriate genomic testing. The advancements in genome sequencing offer a more agnostic and accelerated approach to the identification and diagnosis of rare disorders, potentially improving health outcomes, reducing the impact of disability, and reducing financial and psychological burdens on families. Due to the complex nature of these conditions, early engagement with genomic testing and clinical genetics services is key to facilitating a diagnosis. This qualitative exploration aimed to understand the journey to genomic testing and services and identify the supports families need during the diagnostic period. We conducted semi-structured interviews with 24 parents of children with a rare condition. Interviews were analyzed using inductive reflexive thematic analysis. Three themes of the parent experience were identified (1) the need for a streamlined pathway through the healthcare system, (2) the value of healthcare professionals who listen to parents, believed them, and partnered with them, and (3) the power of accurate diagnosis. Our findings indicate that providing direct and timely access to genomic testing for patients with a suspected rare condition could alleviate psychological and financial stressors. Genetic counselors are adept at supporting families affected by rare conditions and are optimally placed to facilitate timely access to genomic testing. Improving timely access may be facilitated through educating primary care physicians and embedding genetic counselors in pediatric settings.

Individuals with neurofibromatosis type 1 and schwannomatosis (NF) often face difficult reproductive choices when family planning; however, their experiences and the barriers and enablers to reproductive decision-making are poorly understood. The purpose of this study was to explore the opinions and experiences of individuals with NF in Australia and inform the development of practice recommendations and resources. Focus groups with adults with NF were conducted using a semi-structured interview schedule developed by the research team. Partners were also invited. The focus groups were recorded, de-identified, transcribed, and analyzed using codebook thematic analysis. Three focus groups were conducted with 17 participants (12 = NF1, 4 = NF2-related schwannomatosis [NF2-SWN] and one partner). Three themes were identified: (1) Barriers and enablers; (2) Contemplating the options; and (3) Education and support needs. Barriers to reproductive decision-making included: difficulty accessing healthcare services to discuss reproductive planning; a lack of access to reliable information sources and support; and, in some cases, the financial cost of assistive reproductive technology. Conversely, positive healthcare experiences and support systems enabled reproductive choices. Participants reported many factors that contributed to their reproductive decisions, including: their personal experience of their condition; concern about their future health and that of an affected child; the impact of pregnancy on their health; and the opinion of healthcare providers, family, and friends. Many participants reported mental health difficulties related to their condition and additional stressors related to the reproductive journey. Participants' recommendations included increased access to healthcare services to discuss reproductive options, the development of comprehensive information resources, and improved psychological and peer support for individuals with NF considering family planning and, where relevant, their partners. In conclusion, people with NF and their partners identify a need for improved awareness of NF among healthcare professionals and increased access to appropriate services, information, and support to facilitate informed reproductive decision-making.

There are minimal guidelines regarding the disclosure of XXY, otherwise called Klinefelter syndrome, in healthcare or within the family. The increased use of cell-free DNA (cfDNA) to screen for fetal aneuploidy and sex chromosomes bolsters the importance of providing genetic counselors, other healthcare professionals (HCPs), and parents with XXY-led disclosure information. The aim of this qualitative study was to discern the preferences of adults of XXY in the disclosure of XXY status across the lifespan to best inform the clinical and social aspects of their care. Fifteen semi-structured interviews were conducted with adults with XXY to gain their perspective on healthcare and support needs, the impact their care has had on their perception and acceptance of XXY, as well as their disclosure preferences across age groups. Interviews were coded and analyzed using reflexive thematic analysis through a social constructivist lens, from which four themes were generated: (1) lack of support within the healthcare system affects quality of care; (2) stigma and shame impacts XXY individuals' decisions to disclose information to others; (3) communication of XXY genetic results to children should be thoughtful and age-appropriate; and (4) attention to psychosocial needs is integral to comprehensive care. Novel findings of this study, which include the detrimental impacts of negative disclosure experiences on relationships with HCPs and self-identity, underscore specific clinical and social support needs for individuals with XXY. This study highlights the need for specialized support across one's lifespan, particularly within interdisciplinary clinics staffed by HCPs knowledgeable about the overall health of individuals with XXY. Participants stress the importance of empathetic delivery of XXY status and discussions on sex and gender to mitigate shame and stigma. Advocating for ongoing support services, including referrals to specialists and mental health resources, participants also endorse a personalized approach to childhood disclosure by parents, or in collaboration with HCPs, aiming to preserve trust, empower the child, and consider their maturity level. This study emphasizes the importance of providing tailored support to individuals with XXY, prioritizing informed decision-making, emotional well-being, and holistic care.

Previous studies have examined the perspectives of healthcare providers regarding their role in the transition process of pediatric patients with neurodevelopmental conditions (NDCs), but the perspective of a genetic counselor has yet to be considered. This study explored genetic counselors' current practices and attitudes regarding care for pediatric patients with NDCs as they transition into adult care. Genetic counselors (GCs) currently seeing patients with NDCs were recruited through a cross-sectional online survey. Questions included demographics, current practices with patients aged 0-15 years vs. patients 16-22 years, self-confidence, attitudes, and barriers regarding a genetic counselor's role in medical transition. A total of 51 surveys were included in the analysis. The majority (76.7%) of GCs were interested in playing a role in the transition process. Furthermore, all participants perceived transition planning for pediatric genetic patients with NDCs as somewhat important or important. Most GCs (70.0%) discussed topics of transition with patients over 18 years of age. These results demonstrate GCs' interest in assisting patients and families with the transition of individuals. Incorporating a genetic counselor skill set into transition discussions with patients with NDCs could improve the transition process and help to meet the standards of care called for by the American Academy of Pediatrics.