This study employed an exploratory qualitative methodology to examine how IVF clinics in the United States develop and implement policies regarding the transfer of embryos that test positive for genetic conditions through preimplantation genetic testing for monogenic disorders (PGT-M). The study explored who is involved in creating these policies, and the key factors influencing these decisions. Semi-structured interviews were conducted with genetic counselors working in IVF clinics across the United States. Participants were asked about clinic policies regarding PGT-M positive embryos, their role in policy creation, and how patient requests are handled. Transcripts were analyzed thematically to identify patterns in clinic practices, policy rationales, and decision-making processes. Findings showed considerable variation in how clinics approach PGT-M affected embryo transfers. While one clinic follows strict guidelines that prohibit the transfer of embryos with pathogenic variants (including likely pathogenic variants or variants of uncertain significance [VUS]), others allow case-by-case consideration, particularly when patients face barriers to further IVF cycles. Common policy frameworks prioritize transfer of unaffected embryos, with affected embryos considered only after other options are exhausted. Key factors influencing policy decisions included ethical considerations, clinic values, provider discretion, legal and insurance frameworks, and concerns about the child's future quality of life. Despite formal protocols, many clinics still assess individual cases, underscoring the complexity of balancing standardization with patient-centered care. Genetic counselors often serve as intermediaries, advocating for patients while navigating institutional limitations. This study highlights the need for clearer, yet flexible, guidelines on PGT-M positive embryo transfer to ensure consistency while preserving patient autonomy. Greater integration of genetic counselors into policy development and clinical decision-making can support more ethically grounded and informed reproductive care.
As the genetic counseling profession works to diversify its predominantly white workforce, understanding the experiences of Black, Indigenous, and People of Color (BIPOC) students is central to equity efforts. While BIPOC students bring invaluable cultural and linguistic diversity that improves patient care, they often navigate clinical training environments that lack diversity and psychological safety. This article draws on data from a longitudinal constructivist qualitative study to examine how racial and ethnic concordance (or lack thereof) with patients and clinical supervisors influenced the clinical training, professional development, and well-being of BIPOC genetic counseling students. Semi-structured interviews were conducted with 25 BIPOC genetic counseling students in the United States and Canada. Interviews were recorded using Zoom.us, transcribed using Rev.com, and analyzed in NVivo using reflexive thematic analysis. The analysis led to the construction of three themes: (1)Shared identity with patients is a clinical advantage: Participants leveraged their cultural and linguistic intuition to establish trust and rapport with patients; (2) Identity navigation involves cognitive and emotional labor: Participants shouldered an unacknowledged burden in managing stereotype threat, overcoming feelings of exclusion, and educating supervisors; and (3) Racial/ethnic identity shapes supervisory dynamics: Participants described BIPOC supervisors as providing identity-affirming support, while some white supervisors avoided discussions about identity or committed microaggressions. These results suggest that BIPOC genetic counseling students have clinical assets rooted in biculturalism, yet carry a burden that often goes unacknowledged of managing power imbalances and pressure to assimilate in predominantly white clinical supervision spaces. To promote equitable training, programs should implement supervisor training on culturally responsive identity broaching, establish independent, transparent mechanisms for students to report biases they encounter in clinic, and expand mentorship networks to provide additional support.
This study evaluated the association between first-trimester ultrasound abnormalities and prenatal test selection within a centralized genetic counseling system in Japan. Advances in ultrasound screening and the increasing use of non-invasive prenatal testing (NIPT) have expanded prenatal testing options, increasing the complexity of test selection in pregnancies with abnormal ultrasound findings. This retrospective cohort study included 87 pregnant women referred for genetic counseling because of abnormal first-trimester ultrasound findings between July 2022 and December 2025. All patients received standardized prenatal genetic counseling. Clinical data were extracted from the medical records, and factors associated with the selection of invasive diagnostic testing were analyzed using multivariable logistic regression. Amniocentesis was selected in 41 pregnancies (47.1%), NIPT in 28 (32.2%), and no chromosomal testing in 18 (20.7%). Chromosomal abnormalities were identified in 15 of 41 pregnancies (36.6%) undergoing amniocentesis. Cystic hygroma was independently associated with the selection of invasive diagnostic testing (odds ratio [OR] 3.10, 95% confidence interval [CI] 1.09-9.15), whereas increased nuchal translucency was negatively associated (OR 0.35, 95% CI 0.13-0.90). These findings suggest that the type of first-trimester ultrasound abnormality is associated with prenatal test selection. Our results highlight the importance of individualized genetic counseling when discussing prenatal testing options and residual uncertainty following abnormal ultrasound findings.
Pharmacogenomic testing for psychiatric medications has been proposed as both an early intervention to optimize treatment response, and for use among patients who have tried multiple medications without symptom remission. Therefore, this testing may be particularly salient to the subset of individuals with major depressive disorder for whom depression has been labeled as "treatment resistant". Understanding the impact of this diagnostic label on illness identity and attitudes towards new therapies is important as genomic technology expands and rates of depression increase. We sought to explore perceptions and attitudes towards pharmacogenomic testing among individuals who had received a diagnosis of treatment resistant depression. We conducted a qualitative study with a constructivist orientation. Participants were recruited from a larger genomic research study and interviewed by phone or video call. We took an inductive approach to coding guided by reflexive thematic analysis. Themes were then organized into a relational framework following principles of interpretive description. Twelve individuals were interviewed. Key themes included internalized acceptance/hopelessness, and external validation/frustration, which were cyclically interconnected. These themes were situated within a larger framework illustrating the ways that illness identity and modifying factors such as relief of guilt, social support, pharmacogenomic testing and depressive symptoms can either facilitate acceptance and validation or contribute to feelings of hopelessness and frustration. Though participants expressed some skepticism around its effectiveness, pharmacogenomic testing may contribute to the shift towards acceptance and validation by legitimizing individuals' experiences with lack of treatment response. Genetic counselors and other healthcare providers should be aware of the complex balance between hope and frustration underlying conversations around pharmacogenomic testing, and factors that are more likely to foster self-acceptance.
Families of children with inherited metabolic disorders face a variety of medical, developmental, educational, and psychosocial challenges. However, little is known about how these families manage such issues within the Japanese healthcare and social support systems. This study explored the experiences and information needs of families of children with organic acid and fatty acid metabolism disorders. A cross-sectional questionnaire survey was conducted in Japan in June 2022 among 183 families of children with organic acid and fatty acid metabolism disorders recruited through a patient organization. Thirty-eight families responded to the survey. The questionnaire addressed the medical history, developmental concerns, support services, education, and psychosocial experiences. Most children (95%) were diagnosed within the first year of life. Two-thirds of the parents (66%) reported developmental concerns involving behavior, learning, or emotional regulation. Although many children attended regular schools, some required special needs education, and parents reported difficulties related to dietary management and school admission. Qualitative analysis of open-ended responses identified 10 categories describing parental experiences, including gratitude toward healthcare professionals, the need for information and support systems, and reflections on living with a chronic condition. Families of children with organic acid and fatty acid metabolism disorders face complex medical, educational, and psychosocial challenges. These findings highlight the importance of coordinated information sharing, multidisciplinary collaboration, and family-centered support to improve the quality of life of both children and their families.
Familial hypercholesterolemia (FH) is a common monogenic disorder associated with elevated low-density lipoprotein cholesterol and premature cardiovascular disease. Despite Singapore's high FH prevalence and the launch of the National FH Genetic Testing Programme in 2025, uptake remains suboptimal. This study aimed to assess public attitudes, perceptions, and willingness to undergo FH genetic testing. A cross-sectional survey of 333 Singaporean adults was conducted. Descriptive and comparative analyses assessed willingness, concerns, and information needs. While 71% of participants expressed some willingness to test, only 25% reported strong intention. Individuals who were 'somewhat willing' exhibited aversion levels similar to those 'unwilling', reflecting ambivalence and a risk of inaction without targeted support. Insurance coverage increased willingness, whereas encouragement from health professionals or family had minimal effect. Participants with high cholesterol were more willing to test than those with normal cholesterol. Key barriers for individuals with normal and high cholesterol included concerns about cost, insurability, data privacy, emotional readiness, and perceived necessity. Information needs varied by willingness level, with those more willing prioritizing practical and logistical details while ambivalent or unwilling participants needed guidance on benefits and costs, post-test pathways, and data protection. Financial subsidies alone are insufficient to maximize uptake. Tailored communication and decision support interventions from healthcare providers addressing psychosocial and information barriers are essential to support effective implementation of national FH genetic testing programs.
Preimplantation genetic testing for monogenic conditions (PGT-M) with in vitro fertilization (IVF) is a reproductive technology that reduces the chance of passing down known genetic variants to future children. While prior research has explored reproductive decision-making for individuals with neurofibromatosis Type 1 (NF1), few studies describe the factors that influence their choices to pursue or not pursue IVF with PGT-M. Adults with NF1 in the United States who had received reproductive counseling around IVF with PGT-M were recruited from the Children's Tumor Foundation NF Registry. We conducted virtual semi-structured qualitative interviews that assessed participants' reproductive choices and lived experiences in the context of NF1. Transcripts were de-identified, coded, and thematically analyzed using the Framework Method. Coding matrices were created to synthesize data and generate themes. We interviewed 20 individuals with NF1: 12 who pursued and 8 who did not pursue IVF with PGT-M. Four key themes emerged around reproductive decision-making: (1) Personal values and preferences, (2) Practical considerations, (3) Input from others, and (4) Retrospective feelings and future considerations. The choice of whether to pursue IVF with PGT-M for NF1 is a personal and nuanced decision affected by the emotional, financial, and time commitments of IVF with PGT-M. During counseling, clinicians should consider a patient's family history of NF1 and address the clinical variability of NF1 to facilitate reproductive decision-making. Many participants reported increased neurofibroma growth during IVF or pregnancy and expressed concerns about undergoing IVF or carrying future pregnancies due to this perceived risk. Future research should address these concerns to improve reproductive counseling for individuals with NF1.
Since the profession's inception, the entry-level and terminal degree for genetic counselors (GCs) has remained a master's degree. Interest in a PhD in Genetic Counseling has been explored previously; however, no studies on this topic have been published since 2015. Given the continued growth in the number of genetic counselors and the expansion of their roles, this study investigated current perceptions of GCs regarding the creation of a PhD in Genetic Counseling. A 56-question, investigator-developed survey collected demographic information, assessed participants' personal interest in a PhD in Genetic Counseling, and included Likert scale questions exploring perceptions of how such a degree might affect the profession, as well as factors influencing participants' decisions to pursue it. A final open-ended question allowed participants to elaborate on their responses. Participants (n = 514) had an average of 9.5 years of experience post-master's degree. Most (69.1%) supported the development of a PhD for GCs with several years of experience, while a smaller proportion (57.3%) supported it for recent graduates. Overall, 39.6% had considered earning a PhD, and 37.4% indicated interest in pursuing a PhD in Genetic Counseling. Factors most influencing their decision included time commitment and potential salary increase. Perceived benefits included enhancement of research skills (85.9%) and increased access to faculty positions (83.1%). About half (48.6%) indicated that a PhD in Genetic Counseling could reduce opportunities for GCs with a master's degree. Open-ended comments indicated confusion regarding the distinction between a PhD and other advanced degrees, such as a clinical doctorate. Overall, while many participants supported the development of a PhD in Genetic Counseling, this support remained mixed and tempered by concerns about its impact on master's-trained counselors. These findings suggest that further exploration of the role and implications of a PhD in Genetic Counseling is warranted.
Research has highlighted persistent obstacles to the professionalization of the genetic counseling profession (GCp). This study aims to capture international experts' reflections on shared and anticipated global challenges in the near-term and how they perceive the GCp evolving worldwide. A qualitative exploratory study using semi-structured interviews was conducted with 23 GCp experts involved in professionalization processes across diverse countries/regions worldwide. Online interviews, conducted between late 2023 and early 2025, were flexible and participant-led, and data were analyzed using reflexive thematic analysis. Four overarching themes were constructed: (a) Drivers of professionalization centred on the persistent lack of formal recognition, the importance of accreditation and registration frameworks, the need for governmental and institutional support, and the heterogeneity of integration and resources across regions; (b) Expansion and sustainability of the genetic counseling workforce reflected concerns about the shortage of trained professionals facing high workload and demand, continuing professional development, sustainable career pathways, and the need to raise visibility and build a culture of evidence-based practice; (c) Evolving roles and scope of practice captured balancing expanding responsibilities with preserving professional identity, overcoming misconceptions, and integrating technological change; (d) Ethical and societal challenges encompassed equity of access to genetic services, navigating ethical complexities, and harmonizing practice while embracing contextual and cultural adaptation. This study contributes to clarifying shared priorities and potential areas for collective action. While meaningful progress is underway worldwide, substantial work remains. Global collaboration and cohesion are revealed as fundamental strategies. GCp is still becoming: advancing through ongoing negotiation of recognition, identity, and standards across diverse systems.
Trauma-informed care (TIC) emphasizes understanding the impact of trauma and integrating this knowledge into patient engagement and treatment. Implementing TIC in genetic counseling practice has the potential to enhance patient-clinician relationships, improve patient outcomes, and reduce the risk of retraumatization. This study assessed the knowledge, attitudes, and practices of genetic counselors regarding TIC. A cross-sectional study was conducted using an anonymous online survey of practicing clinical genetic counselors in the United States and Canada who were board-certified or board-eligible. Data were analyzed using descriptive statistics. A total of 101 responses were included in the analysis. The survey revealed variability in TIC knowledge among genetic counselors, with 46.0% (46/100) knowledgeable about trauma prevalence, but 86.0% (85/99) unfamiliar with TIC principles. Almost all participants (99.0%, 98/99) recognized the importance of creating a safe environment for trauma-affected patients, and 55.6% (55/99) felt confident adapting counseling approaches based on trauma history. However, only 21.4% (21/98) regularly incorporated TIC principles into practice. Training in TIC was received by 18.4% (18/98) of respondents, and interest in further TIC training was high, with 92.9% (92/99) motivated to improve these skills. This study identified gaps in genetic counselors' knowledge of the principles of TIC. With a minority of genetic counselors who have received training in TIC principles, and strong interest in further training, this study highlights an opportunity for structured TIC training.
With the introduction, free access, and proliferation of various artificial intelligence (AI) in unique platforms, patients have access to more summarized information than ever. Our study aimed to explore the use of AI chatbots to improve patients' understanding of genetic testing. Thirty-nine frequently asked questions (FAQs) on genetic testing, including generic, BRCA-related, and Lynch syndrome-based questions, were asked to five AI chatbots (ChatGPT 3.5, Google Gemini, Reddit Answers, Bootcamp, and DeepSeek). Answers were individually assessed in a blind, randomized survey by two gynecologic oncologists and two genetic counselors on a 4-point scale (1: accurate and comprehensive, 2: accurate but inadequate, 3: incomplete, partially inaccurate, and/or outdated, 4: completely inaccurate) and statistically evaluated with ANOVA and Tukey testing. A Flesch-Kincaid Grade Level (FKGL) readability score and word count for each answer were obtained. Overall ratings show that no single AI platform outperforms the others in accuracy or readability, though Reddit Answers was notably worse. On average, ChatGPT 3.5, Google Gemini, Reddit Answers, Bootcamp, and DeepSeek received scores of 1.5, 1.6, 2.4, 1.6, and 1.4, respectively. The FKGL readability scores of answers across all AI platforms are consistently higher than the reading level of the average American (ChatGPT 3.5: 13.5, Google Gemini: 13.3, Reddit Answers: 12.1, Bootcamp: 14.6, DeepSeek: 14.2). Although AI chatbots have the potential to be a great resource for patients seeking genetic testing, especially for foundational genetic knowledge, this study highlights the importance of genetic counseling and education by healthcare professionals. Because genetic testing is unique to each patient, the answers produced by AI chatbots are not always applicable to each individual.
What Is Known About This Topic Inherited cardiac conditions (ICCs) are associated with significant morbidity and mortality. Early detection allows timely intervention and risk reduction. Waiting times within the public health services (NHS) are increasing, putting pressure on specialist services. Digital technologies are increasingly being used to streamline clinical pathways, improve access to care, and have shown favorable outcomes. What This Paper Adds This study describes the implementation of a novel video‐based genetic counseling pathway within the NHS for patients at risk of an ICC. To our knowledge, this is the first time this type of pathway has been used in this clinical context. This paper demonstrates its feasibility and potential to improve waiting times for genetic testing in this setting with favorable outcomes, such as patient satisfaction.
This study was aimed at translating the University of North Carolina Genomic Knowledge Scale (UNC-GKS) and evaluating its reliability and validity in assessing genomic knowledge among Japanese patients who received an explanation of whole-exome sequencing (WES) in a clinical setting. The scale was translated according to the International Society for Pharmacoeconomics and Outcomes Research guidelines using forward-backward procedures with harmonization, followed by cognitive debriefing using an open-ended questionnaire. Participant feedback was qualitatively reviewed and informed revisions to the placement of the explanatory text. The participants were 189 parents of pediatric patients who had undergone, or were scheduled to undergo, WES as part of the Japanese Initiative on Rare and Undiagnosed Diseases. The UNC-GKS was translated according to the International Society for Pharmacoeconomics and Outcomes Research guidelines. A survey package including sociodemographic data, the UNC-GKS Japanese version and the 14-item Health Literacy Scale (HLS-14) was distributed via post and online between August and September 2022. A retest was conducted 2 weeks later. Internal consistency was assessed using Cronbach's α and test-retest reliability with intraclass correlation. Construct validity was examined via correlations with the HLS-14 scores and background factors. The UNC-GKS Japanese version demonstrated excellent internal consistency (Cronbach's α = 0.94) and sufficient test-retest reliability (ICC for total score = 0.90; 95% CI: 0.81-0.94; item-level ICCs ranged from 0.42 to 0.84, with no negative test-retest correlations). While content validity was ensured through a structured translation process, construct validity with HLS-14 was not supported. The UNC-GKS Japanese version is a reliable and valid instrument for assessing genomic knowledge among Japanese patients who have received an explanation of WES. Future research should explore the association between numeracy and alternative health literacy measures to better understand convergent validity.
Facilitating patient-informed decision making is central to the genetic counseling practice. The Multidimensional Model of Informed Choice (MMIC) evaluates informed decisions in genetic testing, but validated MMIC measures for inherited cardiac conditions are lacking. This study aimed to begin validating an 8-item true/false knowledge scale specific to familial hypercholesterolemia (FH). Once validated, this scale will form part of an MMIC measure to assess informed choice in the context of genetic testing for this condition. Ten semi-structured cognitive interviews were conducted to examine face validity and the importance of concepts within the scale. A traffic light coding system was used to analyze participant responses. All participants interpreted the items correctly, and minor revisions were made to improve the clarity of six items. Most participants (n = 9) considered all concepts covered by the knowledge scale to be either helpful or necessary to make a decision about genetic testing for FH. This study initiated the validation of a novel genetic knowledge scale specific to FH, to be used as part of a larger measure to assess patient informed choice in the context of genetic testing for this condition. The development and future validation of the genetic knowledge scale for FH can be used in novel research targeted at maximizing patient informed choice among this patient population.
Genetic counselors have been practicing in Aotearoa New Zealand since 1995, and are now established across both public and private sectors of healthcare. While significant global efforts have been made to define the profession of genetic counseling, the distinct way in which genetic counselors practice in New Zealand has not been formally described in the literature. The genetic counseling profession has evolved within New Zealand's distinct cultural, political, geographical, and healthcare ecosystem and is committed to addressing health inequities experienced by Māori, the Indigenous people of Aotearoa. Clinical practice is informed by Te Tiriti o Waitangi (the Treaty of Waitangi), and incorporates te ao Māori (Māori worldview), Māori ethical frameworks and Māori models of health. Genetic counselors work with Māori whānau (families) to facilitate collective decision-making through hui (family meetings) for conditions such as familial hypercholesterolemia (FH), and contribute to Māori-led research initiatives, including work leading to the discovery of the CDH1 tumor suppressor gene. However, the genetic counseling workforce in New Zealand faces significant challenges, including limited local training opportunities, ongoing workforce constraints amid increased demand, the need to adapt to new models of service delivery, and underrepresentation of Māori and Pacific Peoples. This article provides the first published account of New Zealand's unique genetic counseling landscape and begins to map some of the strengths and challenges shaping the ongoing evolution of genetic counseling practice.
Plain Language Summary Resources that explain how to design studies, carry them out, analyze data, and share findings are important for supporting evidence‐based practice and training for genetic counselors and trainees. The articles in this Special Issue on Research Methods present a range of approaches that can help new and experienced researchers. Together, this collection aims to support and strengthen high‐quality research in genetic counseling.
Rare diseases (RDs) are often subject to diagnostic delays due to their low prevalence, clinical variability, and limited professional awareness. This scoping review aimed to map the literature on these delays, examining their clinical, emotional, and socioeconomic consequences. Conducted in accordance with the PRISMA-ScR guidelines, the review identified 23 studies published between 2010 and 2025. The included studies spanned 13 countries, with a notable concentration in Europe and increasing publication trends in recent years, reflecting growing international recognition of the challenges associated with delayed diagnosis. Across diverse study designs and disease contexts, commonly reported consequences included misdiagnosis and inappropriate treatment, psychological distress such as anxiety and frustration, disease progression, increased healthcare utilization, social isolation, reduced quality of life, and financial burden. These findings underscore the broad clinical and psychosocial impact experienced by patients during delayed diagnostic processes. Reducing diagnostic delay in RDs requires coordinated public health efforts, improved diagnostic infrastructure, and greater investment in professional training. Such efforts are essential to ensure earlier diagnosis, improve health outcomes and quality of life, as well as to enable timely access to genetic counseling to better support patients and families.
In the United States, National Institutes of Health (NIH) federally-funded research on the practice of genetic counseling is most often led by Principal Investigators (PIs) who are not genetic counselors (GCs). The aim of this study was to better understand the reasons for this and gain insight into how GCs successfully become PIs of NIH federally-funded research. Using a pragmatic framework, we identified specific skills and supportive pathways that help GCs lead collaborative research. Building on a previously published review of NIH-funded genetic counseling research, the NIH RePORTER database was used to identify GC and non-GC participants. Semi-structured interviews were conducted with GC PIs (n = 9) and non-GC PIs (n = 7). Transcripts were analyzed using inductive content analysis and co-coding. Four overarching categories were identified. 1. Facilitators of GC leadership in NIH-funded research included: varied research roles, institutional resources, mentorship, GC-specific skills and traits, supportive teams, assistance with grant review, training opportunities, and requests for applications (RFA) specific to genetic counseling. 2. Identified barriers included institutional restrictions and priorities, limited time and resources, perceptions of Master's credentials, limited familiarity with the grant process, and low confidence. 3. Participants provided guidance for aspiring GC PIs and 4. GCs discussed the process of becoming a GC PI. Both individual and systemic factors were found to impact research leadership development. GCs pursuing research leadership may benefit from mentorship, employment in settings supportive of research, supplemental training (e.g., grant-writing, research methodology), building a publication record, collaborating with interdisciplinary teams, and adopting a mindset of continual learning. Both GCs and non-GCs can advocate for institutional and funding policy changes. The incorporation of more GCs as PIs on federal grants can ensure that experts in genetic counseling are leading research that has the potential to influence their practice and the profession as a whole.
Huntington's disease (HD) families face complex decisions about predictive genetic testing and reproductive options, including preimplantation genetic testing (PGT), and particularly PGT for Monogenic Disorders (PGT-M). We examined attitudes toward genetic testing and reproductive options across affected groups within HD families (e.g., people with HD, spouse/caregivers, and at-risk family members), in a healthcare system with full funding for genetic services. We conducted semi-structured interviews with 51 participants (17 people with HD, 20 at-risk relatives, 14 spouses/partners), recruited from the National HD Clinic in Tel Aviv, Israel. Framework Analysis was employed to enable systematic comparison across groups. Three themes emerged from the analysis: "Surprised by HD" revealed that family members were often unaware of genetic risk despite predictable inheritance, reflecting patterns of nondisclosure and misdiagnosis; "Truth or luck" captured divergent attitudes toward predictive testing, with some participants advocating for early knowledge while others emphasized the psychological burden of knowing in the absence of a cure. Together, these themes formed the context for a central finding: "The recommendation paradox", a striking pattern where individuals who avoided or regretted personal predictive testing nonetheless strongly endorsed reproductive options for offspring, a tension that manifested differently across groups depending on their relationship to HD. The recommendation paradox reveals ethical tensions between reproductive autonomy and emerging expectations of genetic responsibility. This pattern persists even when economic barriers are removed, demonstrating that psychological factors remain primary determinants of testing uptake. Genetic counseling should explicitly address divergent attitudes toward personal versus offspring testing, recognizing that support for prevention does not necessarily indicate readiness for personal testing.
Germline pathogenic variants in the RUNX1 gene lead to the condition RUNX1-familial platelet disorder (RUNX1-FPD). This condition is associated with a 30%-50% lifetime risk of hematologic malignancies, including acute myeloid leukemia. In addition to physical manifestations including prolonged bleeding and easy bruising, individuals with RUNX1-FPD face profound psychosocial challenges. Individuals 18-39 years old may particularly struggle in their experiences with RUNX-FPD as they navigate developmental milestones. This descriptive, cross-sectional study includes participants aged 18-39, enrolled in the NIH RUNX1 Natural History Study (19-HG-0059). Each participant completed a structured psychosocial self-report assessment that included demographic factors, patient-reported outcomes on mental health symptomatology, psychiatric treatment history, and traumatic stress symptomatology. Open-ended questions asked participants to identify the most difficult part of living with RUNX1-FPD and how RUNX1-FPD has impacted their lives. Twenty-two participants completed the measures and were included in the analyses. Participants' mean age was 31 years (SD = 5.1). Fifty percent of participants reported higher than average anxiety scores, 59% reported they had been treated by a mental health professional, and 64% reported traumatic stress symptomatology. Living with the chronic uncertainty of cancer development and overall distress from recommended lifelong monitoring processes emerged as themes from the illustrative exemplar quotes. With this study, we describe the significant psychosocial and mental health challenges that emerging adults with RUNX1-FPD face. Access to psychological counseling, peer support groups, and genetic counseling can help individuals process their risk, manage anxiety, and make informed decisions. More research is needed to explore effective coping strategies, resilience-building techniques, and patient-centered resources to improve quality of life for those living with a hereditary predisposition to hematologic malignancies.
