Journal of Genetic Counseling最新文献

{"title":"Subspecialty neurology genetic counselors—A cost effective solution to substantial time costs associated with genomic testing in the neurology clinic","authors":"John Coleman,&nbsp;Patrick Moloney,&nbsp;Claire Giffney,&nbsp;Mary O. Regan,&nbsp;David Webb,&nbsp;Kenny Lynch,&nbsp;Leona Connolly,&nbsp;Janna Kenny,&nbsp;Susan Byrne","doi":"10.1002/jgc4.70083","DOIUrl":"https://doi.org/10.1002/jgc4.70083","url":null,"abstract":"<p>To understand the modality and results of genetic testing in a tertiary pediatric neurology center, we undertook a review of testing to provide insights into both direct and indirect costs of testing within the department. The financial cost of 5 years (2017–2022) of genetic testing sent by the neurology department in Children's Health Ireland, Crumlin, was calculated using the local testing cost directory and converted to USD based on the relevant exchange rate. We calculated the indirect clinical costs based on previously reported time estimates. This included an estimate for face-to-face patient-related activity and additional patient-related activity. We explored the challenges raised from the data. Eight hundred and twenty-three genetic tests were requested on 541 patients over the 5-year study period by 2.5 neurology consultants full-time equivalents (FTE). The total direct cost of testing was $802,278 over the 5-year period ($160,462.68 per annum). For indirect costing, the estimate of 45 min per person for face-to-face-related testing activities took the neurology consultants 617.25 h to obtain consent and deliver results, which equates to 16.6 weeks of consultant clinical time during the study period. With regard to indirect time, an additional 3 h of patient-related activity equates to 43.9 working weeks over the study period. We estimate a potential saving of $217,127.8 if these duties were provided by a genetic counselor rather than a consultant. The addition of a genetic counselor would significantly free up neurology consultant time as the estimated activity of the patient-facing activity and patient-related activity equals an estimated 60.6 consultant work weeks over the 5-year study period. New genetic and genomic testing modalities have led to massive improvements in diagnostic rates in neurology conditions. While we had anticipated that our study would demonstrate significant direct costs, we had not expected such substantial indirect (time associated) costs associated with genetic testing. This study highlights the benefit of additional subspecialty genetic counselors to support care in mainstream genetic testing.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 4","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-07-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144681512","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Readiness and leadership for the implementation of polygenic risk scores: Genetic healthcare providers' perspectives in the hereditary cancer context","authors":"Rebecca Purvis,&nbsp;Natalie Taylor,&nbsp;Mary-Anne Young,&nbsp;Paul James,&nbsp;Laura E. Forrest","doi":"10.1002/jgc4.70084","DOIUrl":"https://doi.org/10.1002/jgc4.70084","url":null,"abstract":"<p>Genetic healthcare providers and organizations must be made ready for potential future clinical implementation of polygenic risk scores (PRS) for hereditary breast and ovarian (HBOC) cancer risk assessment. Understanding the multi-level factors that contribute to readiness for change will assist leaders with strategic planning and selection of facilitative implementation strategies, ultimately reducing resource wastage and increasing the likelihood of implementation success. Evidence is missing on the current state of readiness in the Australian cancer genomics sector. The aim of this study was to explore genetic healthcare providers' perspectives on organizational readiness and leadership. Participants were recruited through professional networks to complete an online, quantitative survey encompassing multiple validated evidence-based tools. Analyses included descriptive and inferential statistics. Participants (<i>N</i> = 40) were majority female (<i>N</i> = 31, 77.5%) and in clinical roles (<i>N</i> = 31, 77.5%). A high level of personal capability and organizational readiness was found, with current workplace behaviors and culture being enablers for implementation. Barriers to readiness were knowledge of implementation and evaluative processes for PRS and insufficient resourcing. Leaders were confident in their roles and supportive and perseverant behaviors. Participants in non-leadership roles regarded leadership at an average level. Overall, leadership proactivity toward implementation of PRS for HBOC risk assessment was low. If implementation is to be successful, investment in further developing organizational climates conducive to change is required, focusing on interventions to bolster entrepreneurial leadership behaviors and increase implementation competency and resourcing. Further research into readiness and leadership in clinical cancer genetics is needed.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 4","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-07-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jgc4.70084","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144681180","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Primary care patient and clinician attitudes about population genomic screening, informed decision-making needs, and the potential for Chatbot technology","authors":"Rebecca R. Moultrie,&nbsp;Sara M. Andrews,&nbsp;Kristi M. Williams,&nbsp;Oksana Kutsa,&nbsp;Tarneisha Hudnell,&nbsp;Jennifer Brailsford,&nbsp;Sienna Aguilar,&nbsp;Sarah Savage,&nbsp;Barbara B. Biesecker,&nbsp;Jessica Ezzell Hunter","doi":"10.1002/jgc4.70081","DOIUrl":"https://doi.org/10.1002/jgc4.70081","url":null,"abstract":"<p>The three CDC Tier 1 conditions (Hereditary Breast and Ovarian Cancer, Lynch Syndrome, and Familial Hypercholesterolemia) are estimated to affect 2 million people in the United States. Population-based genomic screening holds promise in identifying individuals who may not know their risk. This novel study explored primary care clinician and patient attitudes toward population screening generally and in the context of a research study and the potential for chatbot technology to support informed decision-making in the primary care context, perspectives vital to inform scalable, patient-centered approaches to facilitate population screening. We conducted semistructured interviews with primary care patients (<i>N</i> = 20) and primary care clinicians (<i>N</i> = 9) from primary care clinics at a patient-diverse academic medical center. The interviews focused on receptivity to population-level screening, information needs, and the potential for chatbot technology as a mechanism to support patient informed decision-aking about testing. Patient and clinician participants also reviewed a brief demonstration of the chatbot technology and shared their views. Interviews were recorded and transcribed. We used rapid qualitative analysis methodology to analyze interview data. Patients and clinicians acknowledged the benefits of population genomic screening and found the chatbot technology to be easy to navigate. Patients endorsed the utility of screening but raised concerns about data privacy and the desire for more information about the conditions and screening process. Clinicians gave insights into information that could be integrated to further support patients in informed decision-making. Overall, chatbot technology as a facilitator of population screening is a promising approach. The results of this study can improve future efforts to ensure that chatbots and similar technology incorporate vital information to facilitate informed decisions.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 4","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-07-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jgc4.70081","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144647199","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Factors influencing retention of patient-facing genetic counselors: Role of generational age and work environment","authors":"Jade R. Frye,&nbsp;Leah Wetherill,&nbsp;Stephanie A. Cohen,&nbsp;Sara M. Fitzgerald-Butt,&nbsp;Benjamin M. Helm,&nbsp;Sandra K. Prucka,&nbsp;Courtney D. Schroeder","doi":"10.1002/jgc4.70076","DOIUrl":"https://doi.org/10.1002/jgc4.70076","url":null,"abstract":"<p>Retention is a challenge that every health organization faces in an evolving and competitive market, including those in hospital settings. Some healthcare professions have identified factors that influence their employees to either stay or leave, which has led to the development and implementation of targeted strategies to increase job satisfaction and retention. Prior to this study, only factors associated with leaving have been identified in the genetic counseling profession. Despite the growing number of genetic counselors in the field, a shortage of patient-facing genetic counselors is expected by 2030. Therefore, this study explored three topics among patient-facing genetic counselors: (1) intent to stay in their current position, (2) top factors that influence this decision, (3) whether these factors differ by generational age, and (4) whether these factors differ by work setting. Genetic counselors who were in a patient-facing position for ≥6 months, board-certified, and working in the United States or Canada were eligible for study participation. Of the 520 respondents, the majority (84.6%) intend to stay in their current position. The top factors selected for staying were <i>flexibility</i> (58.9%), <i>colleagues</i> (56.4%), <i>salary</i> (52.0%), <i>autonomy</i> (48.1%), <i>location</i> (47.5%), and <i>specialty</i> (44.0%). Generation X was more likely to choose <i>autonomy</i> and less likely to choose <i>location</i> in their top five factors for staying compared to other generations. Individuals working in industry were more likely to choose <i>flexibility</i> and <i>autonomy</i>; those in academic centers were more likely to choose <i>colleagues</i>; those in non-hospital clinics were more likely to choose <i>salary</i>; and those in non-academic health centers were more likely to choose <i>location</i> compared to other work settings. Based on our results, clinical leadership should allocate resources to strategies that increase flexibility, foster a collaborative environment, and promote autonomy within the workplace to increase retention and prevent the predicted shortage of patient-facing genetic counselors.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 4","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-07-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jgc4.70076","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144635410","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Invisible diversities, academic capital, and competitiveness of genetic counseling applicants","authors":"Natalie Stoner,&nbsp;Meagan Choates,&nbsp;Carla McGruder,&nbsp;Debra Murray,&nbsp;Theresa Wittman,&nbsp;Sara Wofford,&nbsp;Claire N. Singletary","doi":"10.1002/jgc4.70080","DOIUrl":"https://doi.org/10.1002/jgc4.70080","url":null,"abstract":"<p>The field of genetic counseling has historically lacked diversity. Recent research has explored how individuals with visible underrepresented identities may encounter barriers to becoming competitive genetic counseling applicants. This work has yet to characterize barriers with respect to invisible underrepresented identities, such as being a first-generation college student or a part of the lesbian, gay, bisexual, transgender, queer, asexual + (LGBTQ+) community. Therefore, this study aimed to address this gap and to explore whether these factors are related to applicants' academic capital (AC), a theoretical framework used to identify what factors make students more likely to succeed in postsecondary work. AC includes supportive networks, trustworthy information, family uplift, college knowledge, overcoming barriers, concerns about cost, familial expectations, and navigation of systems. Genetic counseling applicants for the 2021 and 2022 admissions cycles were recruited via a multipronged, snowball method and surveyed via Qualtrics (IRB# HSC-MS-21-0477). Mann–Whitney <i>U</i> was used for comparisons. Multiple linear regression analysis was used to account for associations between invisible underrepresented identities and AC. Results indicated individuals who are LGBTQ+, from a disadvantaged background as defined by the National Institute of Health (NIH), or from a low socioeconomic status had significantly lower AC scores by 6.31 points (<i>p</i> &lt; 0.001), 5.81 points (<i>p</i> = 0.001), and 4.53 points (<i>p</i> = 0.050), respectively, compared with individuals who were not underrepresented by each invisible identity. Applicants with mentors had significantly higher AC scores compared with applicants without a mentor (<i>p</i> = 0.042). Concerns about the cost of the application process were prevalent across invisible underrepresented identity groups (UIG). Therefore, mentorship opportunities and reduction of genetic counseling admissions costs may support applicants with invisible diversity in equitable access to the career.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 4","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-07-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jgc4.70080","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144550998","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A qualitative investigation of Ehlers-Danlos syndrome genetics triage","authors":"Kaycee Carbone,&nbsp;Ann Seman,&nbsp;Catherine Clinton,&nbsp;Renée Pelletier","doi":"10.1002/jgc4.70077","DOIUrl":"https://doi.org/10.1002/jgc4.70077","url":null,"abstract":"<p>The Ehlers-Danlos syndromes (EDS) are a group of hereditary connective tissue disorders for which patients struggle to find a timely and accurate diagnosis. Overburdened genetics practices have been identified as a barrier to care. Triage is a tool utilized by genetics practices to address workload issues and prioritize high-risk patients. Through a demographic survey and semi-structured interviews, this study aimed to explore what triages exist for EDS referrals to genetics practices across the United States and how genetic counselors perceive their triages. Inductive coding and conventional content analysis were used to analyze fifteen interview transcripts and identify categories. Six categories emerged from the analysis: EDS referrals &amp; genetics appointment eligibility criteria; triage development, processes &amp; tools; factors influencing triage; triage goals and impact on the clinic; triage impact on patient care; and future goals &amp; changes desired. Many participants noted a general increase in EDS awareness and referrals. This study identified that clinics employ unique triage processes including specific referral requirements and triage tools such as decline letters and patient questionnaires. Factors noted to influence triage included the clinic's threshold to see patients, perceived scope of practice for genetics providers, lack of other appropriate practices nearby, and limited clinic resources. Participants identified several benefits of their triage and felt that it was meeting their clinic's goals. However, several disadvantages were noted including a discrepancy in care for patients who were accepted for evaluation and those who were declined (e.g., hypermobile EDS [hEDS]). Several participants reported feelings of guilt with declining hEDS patients as they often lack good diagnosis and management options and that systemic change must occur to improve care for the hEDS population. This study identified that the goals, composition, and factors affecting EDS genetics triages across the United States vary. While many positive aspects of EDS triage exist, there is a need for genetic counselors and their practices to explore ways to improve care for all EDS patients.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 4","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-07-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jgc4.70077","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144524737","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The attitudes of individuals with or at risk of adult-onset genetic conditions on reproductive genetic testing: A systematic review","authors":"Shanice Allen,&nbsp;Alisdair McNeill,&nbsp;Christopher McDermott,&nbsp;Felicity Boardman,&nbsp;Jade Howard","doi":"10.1002/jgc4.70079","DOIUrl":"https://doi.org/10.1002/jgc4.70079","url":null,"abstract":"<p>Individuals who carry a genetic variant for a genetic disease can access reproductive genetic testing in order to prevent the transmission of the gene variant to their children. This systematic review aimed to synthesize the findings from both qualitative and quantitative literature to understand these individuals' attitudes toward pre-implantation genetic testing (PGT) and prenatal testing (PNT) and how they make decisions around them. A systematic search was undertaken following PRISMA guidelines, with 37 articles meeting the inclusion criteria for evaluating experiences and attitudes of individuals with or at risk of adult-onset genetic conditions on reproductive genetic testing. Relevant findings from each study were included in a thematic synthesis. Five analytical themes were generated to elucidate the attitudes toward reproductive genetic testing and the factors that impact decision-making in individuals with or at risk of late-onset genetic diseases: (1) Preventing gene transmission; (2) finding the threshold: evaluating the necessity of reproductive genetic testing; (3) ethical/acceptability considerations; (4) external influences in decision-making; and (5) psychological and practical concerns of reproductive genetic testing. This review highlights several factors that influence attitudes toward reproductive genetic testing. Complex decision-making was a cross-cutting experience that characterizes and defines reproductive genetic testing for late-onset conditions. There was a general consensus of support for reproductive genetic testing and a belief that it should be available to all. The need for awareness and education on reproductive genetic testing is evident. Future work should look at how to address these knowledge deficits, while exploring individuals' preferences for when and by whom information is delivered. Acknowledging the complexity of decision-making can encourage meaningful discussions and address potential issues.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 4","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jgc4.70079","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144519762","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Genetic counseling training program perspectives on delivering disability-related education","authors":"Anna Miller,&nbsp;Ashley Kuhl,&nbsp;Rachel Sullivan,&nbsp;Catherine Reiser,&nbsp;Elizabeth M Petty","doi":"10.1002/jgc4.70070","DOIUrl":"https://doi.org/10.1002/jgc4.70070","url":null,"abstract":"<p>Ensuring genetic counselors are educated about disability is crucial due to the societal implications of genetic testing and the support they provide to clients. Research indicates that genetic counselor preparedness in these areas is both limited and variable, with practitioners and disability advocates expressing desire for more robust disability-related curricula. This study aimed to gain updated information and perspectives on relevant curricula currently offered at accredited genetic counseling training programs. With future goals of filling in curricula gaps, we also investigated program leadership interest in a shared disability-related curricula resource. Leadership from 16 out of 51 accredited genetic counseling training programs in the United States and Canada responded to our survey. We found that current disability-related curricula are often based in classroom didactics, which is more likely to be focused on medical aspects of disability, whereas community-based education is more likely to expose students to community support resources and lived experiences. As such, our study highlights the variability of genetic counselor training about disability and gaps in community-based education. To fill in these gaps, we found that all programs expressed interest in a curricula development resource.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 4","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jgc4.70070","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144519760","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Changes in multi-gene cancer panels for children: A 4-year retrospective review","authors":"Elise G. Williams,&nbsp;Elena Kessler,&nbsp;Kristine L. Cooper,&nbsp;Andrea Durst,&nbsp;Julia Meade","doi":"10.1002/jgc4.70075","DOIUrl":"https://doi.org/10.1002/jgc4.70075","url":null,"abstract":"<p>The multi-gene panel is the most utilized genetic test to evaluate for germline cancer predisposition syndromes. However, the rate of change of commercial multigene panels is not well understood, and its value as a standalone test has also not been investigated. We conducted a retrospective chart review of the UPMC Children's Hospital of Pittsburgh Cancer Predisposition Program's genetic testing results to evaluate how multigene panels for pediatric and young adult patients with cancer have changed in size and scope from 2018 to 2022. We find that multigene panels show a trend of growing larger in number of genes included over time and explore the utility of additional genetic testing after the initial round of multi-gene panel testing. We demonstrate heterogeneity between commercial genetic testing laboratories and their panels over time, signifying a need for equity among genetic testing panels and vigilance among physicians and genetic counselors ordering panel-based testing.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 4","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-06-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jgc4.70075","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144492647","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Finding acceptance: How adolescents and young adults with Klinefelter Syndrome navigate identity, disclosure, and support","authors":"Abigail Tubman,&nbsp;Jaclyn L. Papadakis,&nbsp;Courtney Finlayson,&nbsp;Debra Duquette,&nbsp;Allison Goetsch Weisman","doi":"10.1002/jgc4.70074","DOIUrl":"https://doi.org/10.1002/jgc4.70074","url":null,"abstract":"<p>Klinefelter syndrome (KS; 47, XXY) is the most common chromosomal aneuploidy, affecting ~1:600 male births. Due to recent technological advances, KS is diagnosed more often in young individuals. This emerging population of adolescent and young adult (AYA) patients with KS seeking care makes it increasingly important to understand the unique experiences and perspectives of these individuals. This qualitative study explored (1) the psychosocial well-being of AYA with KS and (2) resources and support systems AYA with KS utilize to cope with challenges related to their diagnosis. This study included 13 participants ages 14–23 (<i>M</i> age 16 years) who completed semi-structured individual interviews. Reflexive thematic analysis was used. Three themes were generated concerning psychosocial well-being, resources, and support systems of AYA with KS: (1) “I'm a little different”—Rejecting stigmatization and integrating a diagnosis of KS into one's identity, (2) “Let it out”—Lessons learned when disclosing one's diagnosis of KS to others, and (3) “They accept me for who I am”—The building blocks of a support system. Participants largely viewed KS as part of themselves but not their whole identity and expressed not wanting to be labeled by others as “disabled.” Participants voiced that disclosing KS to trusted others often provides a sense of relief, and that it is important to have a varied support system that includes individuals like parents, friends, and romantic partners. This study improves the understanding of what support resources AYA with KS are using, or not using, and provides insights into their psychosocial well-being, which in turn may help providers implement effective clinical interventions and promote better psychosocial outcomes for this growing patient population.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 3","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-06-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jgc4.70074","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144367294","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}