Genomics is transforming health care but its implementation raises challenges. This paper reports a 2025 workshop on justice in the implementation of genomics for rare disorders. The workshop goals were to develop a consensus understanding of the problems faced by rare disease patients and families where justice is at stake, to achieve a shared perspective on support for rare disease patients, and to consider the implications for justice in several areas of rare disease genomics, in both research and healthcare. We heard about the diverse experiences and needs of patients. Inequity between different rare diseases is marked. The need for coordination of care for rare disease patients is under-recognized but good models of rare disease care exist. The value of conscientious professionalism to nurture a rare disease mindset needs to be emphasized in the training of each new generation of healthcare students//trainees. The circumstances of different population groups differ systematically. The needs of indigenous and other historically marginalised groups must also be addressed. However, the subordination of individuals to the benefit of the population (i.e. eugenics) must be resisted. Those engaged in genomics projects or diagnostics may need protection from hype and misuse of their personal data, There are different perspectives on the fair allocation of resources to healthcare and research for rare conditions. Health economics and health technology assessment can be practised equitably, so as to meet the challenges of rare disease clinical trials and address the needs of patients and communities.

The scope of preimplantation genetic testing for monogenic disorders (PGT-M) in Japan, initially limited to severe childhood-onset diseases, appears to be expanding following the 2022 revision of the Japan Society of Obstetrics and Gynecology's definition of "severity." This study examines the impact of this definitional change on the acceptability of PGT-M by comparing attitudes of Japanese genetic professionals before and after the revision, focusing on three childhood-onset cancer predisposition syndromes: Li-Fraumeni syndrome (LFS), familial adenomatous polyposis (FAP), and neurofibromatosis type 1 (NF1). A two-phase survey was conducted in 2019-2020 and 2024 among clinical genetic specialists supervisors and certified genetic counselors. The survey explored views on PGT-M acceptability, the concept of "selection of life," awareness of the revised severity definition, and background factors influencing opinions. Among 382 respondents, LFS was most frequently judged acceptable for PGT-M, followed by FAP and NF1. Between the two phases, "unacceptable" responses declined, while "neither" increased. Those viewing PGT-M as "selection of life" were more likely to oppose it (r=-.293, p<.01). Genetic professionals in the pediatric field were more likely to consider PGT-M unacceptable (r=-.22, p<.01). These findings suggest that clinical experience, ethical perceptions, and institutional guidelines shape professional attitudes toward PGT-M. These findings have implications for genetic counseling practice and policy discussions surrounding the evolving scope of PGT-M. Ongoing dialogue and education are essential as eligibility criteria and societal values continue to evolve.

Oncogenetics focuses on identifying and managing hereditary cancer predisposition, enabling risk-reducing interventions and targeted therapies. This descriptive study evaluated the landscape of oncogenetics training within Medical Genetics Residency Programs in Brazil. Data were collected through online questionnaires and interviews with program supervisors. We assessed rotation availability, timing and duration, clinical and theoretical workload, multidisciplinary care, and competency assessment. Data were analyzed using descriptive statistics. All twelve accredited programs participated. Eleven (92%) offered oncogenetics training, primarily in the third year of residency. While half of the programs provided internal rotations, all allowed external rotations to compensate for local infrastructure limitations. Residents completed a mean of 250.1 practical hours (SD 126.5; range 40-400) over approximately 6.5 months, seeing about 13 patients per week (SD 9.2; range 5-30). Theoretical training averaged 31.3h (SD 26.8; range 4-70), resulting in a mean total training workload of 258.7h (SD 159.1; range 4-470). Multidisciplinary care and research opportunities were common; however, formal competency assessments specific to oncogenetics were infrequent. Considerable variability in workload and clinical settings was observed across programs. The findings indicate that oncogenetics is well integrated into Brazilian medical genetics training, aligning with the growing importance of genomic medicine in oncology. Nevertheless, the marked heterogeneity underscores the need for standardized training approaches. The study suggests that establishing inter-institutional networks and formalizing external rotations may help reduce geographic and technological disparities and support more consistent oncogenetics training in medical genetics residency programs across Brazil.

Hydroxyurea (HU) is an effective therapy for sickle cell disease (SCD) but remains underused worldwide. This scoping review aimed to identify geographical and multilevel barriers and facilitators influencing hydroxyurea initiation, uptake, and sustained use, using the Socio-Ecological Model (SEM) as a framework to guide the analysis and interpretation of findings. This scoping review followed the PRISMA-ScR guidelines. The Socio-Ecological Model (SEM) was used as an analytical framework to categorise and synthesise barriers and facilitators identified in the literature. PubMed, Scopus, Web of Science, and Google Scholar were searched for peer-reviewed studies. Eligible studies included quantitative, qualitative, and mixed-methods designs reporting barriers and/or facilitators to hydroxyurea use among individuals with SCD. We identified 30 studies across Africa, Asia, Europe, North America, and South America. Barriers to hydroxyurea use were reported across individual, caregiver, provider, health-system, and policy levels. Common barriers included negative beliefs, fear of adverse effects, limited knowledge, financial constraints, and gaps in access and monitoring. Facilitators included education, shared decision-making, peer support, provider training, guideline availability, insurance coverage, and improved drug access. Across settings, structural and health-system barriers were more consistently reported than individual-level factors, suggesting that hydroxyurea underutilisation is driven largely by system-level constraints rather than patient behaviour alone. Underutilisation of hydroxyurea in SCD reflects interacting socio-ecological barriers rather than patient non-adherence alone. Addressing these challenges will require coordinated, multilevel strategies that prioritise health-system strengthening alongside patient support to ensure sustained and equitable access to hydroxyurea.

Hereditary transthyretin amyloidosis (hATTR) is a progressive, multisystemic, and life-threatening disease that disproportionately affects individuals of African descent, with an estimated prevalence of 3.4% of Black Americans. hATTR is often mis- or underdiagnosed, partially because many of its symptoms overlap with other cardiac conditions. This study highlights additional factors that may be contributing to the underdiagnosis of hATTR in Black patients. Participants were ascertained from the Emory University Amyloidosis Clinic with purposive sampling. A total of 11 interviews were conducted via telephone, transcribed, and coded by two coders for thematic analysis. A Cohen's kappa of 0.74 was reached. The overwhelming majority of participants cited misdiagnosis, mistrust of healthcare providers, denial or misunderstanding of one's own health risks, and poor family communication as prevalent contributing factors to the underdiagnosis of hATTR. Participants cited appropriate referrals to heart failure providers and family letters as contributing factors to proper diagnosis of hATTR. Importantly, participants emphasized the need for more personal and intimate relationships with providers in order to improve uptake of genetic testing in this population. Participants suggested engaging directly with the Black community to improve trust. This study highlights the need for improvements to be made regarding the diagnosis of hATTR in the Black population. Participants suspected of having hATTR should be referred to a heart failure cardiologist for appropriate diagnosis. Genetic testing and follow-up genetic counseling is recommended to appropriately inform the patient of health risks for themselves and their family members.

The Alabama Genomic Health Initiative (AGHI), funded by the state of Alabama, aims to provide genomic testing, interpretation, and counseling free of charge to Alabama residents. A 14-member Community Advisory Board (CAB) was convened in 2021 to provide community insight on integrating genomic medicine into clinical care and assessing future perspectives. The CAB was comprised of members from diverse ethnic backgrounds and represented a wide range of age groups, with balanced gender representation from two Alabama counties. The CAB met quarterly, and the team explored the perceptions of members related to genomic medicine through qualitative inquiry with exploratory quantitative findings. Self-administered pre- and post-surveys, completed prior to the first CAB meeting (pre) and after meeting five (post), were utilized to evaluate positive and negative views towards the future of genomic medicine. Five meetings were conducted in a focus group format, and transcripts were coded and analyzed to identify emerging themes. Ten of fourteen (71%) CAB members completed both surveys. Results indicate there was a slight shift in responses related to the future of genomic medicine from pre to post-test, but no significant changes were noted. Eleven of fourteen (80%) CAB members attended four out of five meetings. The prominent themes included barriers to genomic testing, strategies for recruitment, and recommendations for sharing test results. Members believed that participation in the CAB facilitated acquiring new knowledge and insight on genomic medicine.Supplementary InformationThe online version contains supplementary material available at 10.1007/s12687-026-00885-9.

Empathy, the ability to understand and communicate another's experience to them, positively affects genetic counseling processes and outcomes. Genetic counseling, a specialty healthcare profession, provides education and support for those impacted by genetic disease; thus, empathy is critical. Limited studies have explored patients' perceptions of genetic counselor (GC) empathy responses. This study investigated the types of GC responses proxy patients perceived as most empathic and why. Female MTurk workers (n = 198) completed a survey containing two hypothetical genetic counseling scenarios (Fabry disease; postnatal diagnosis of cleft lip and palate) that ended with a patient statement followed by five different GC responses. Participants were asked to identify the GC response that best conveyed empathy and explain their choice. Every GC response was selected by at least one participant. Inductive content analysis of participants' rationales yielded six categories: Understanding, Problem Solving, Sympathizing, Focusing on the Patient, Validating, and Miscellaneous. Understanding was the most prevalent rationale for both scenarios (~ 50% each). While GC responses containing the words "I'm sorry…" were chosen most often for both scenarios (~ 45% each), Sympathizing was the rationale for only ~ 20% of these GC responses. Logistic regression analyses showed significant predictors varied across scenarios and between rationales, with few significant demographic predictors. Participants differed in preferences for empathy statements and rationales, signaling context and tailoring are important when considering empathy. Patient demographics are not recommended in predicting the type of GC patients may find empathic. Ongoing assessment of patients' feelings and needs (empathic resonance) will allow genetic counselors to tailor their empathy communication (expressed empathy) accordingly.

KIF1A-Associated Neurological Disorder (KAND) is a heterogeneous group of ultra-rare neurodegenerative conditions. Severe forms of KAND, classified within the broader category of childhood dementia, lead to progressive loss of motor, communication and cognitive skills with markedly reduced life expectancy. Although the disorder is genetically and clinically defined, little is known about how families experience diagnosis and ongoing care. To address this gap, we conducted the first empirical investigation into the lived experiences of families living with KAND. Fifteen semi-structured interviews were conducted with 16 parents of individuals with KAND; one interview also included an individual living with KAND. Data were analysed using inductive content analysis. Families described healthcare journeys shaped by frustration and uncertainty, with early concerns frequently dismissed, diagnoses delayed, and access to clinicians with relevant expertise limited. These challenges were compounded by the financial, administrative, psychological and relational strain associated with the complex care needs of KAND. Families reported unmet support needs, including limited access to condition-specific information, difficulties navigating formal support systems, and uncertainty surrounding long-term care planning. In response to these gaps, parents emphasised the need for clearer diagnostic pathways, coordinated multidisciplinary care, and a centralised network of informed healthcare professionals. In the absence of formal support, families relied heavily on peer support networks for information and psychosocial connection. By identifying previously undocumented gaps in rare disease service delivery and support, these findings highlight opportunities to improve clinical genetics practice, strengthen support pathways, and guide future research aimed at enhancing quality of life for individuals with KAND and their families.

The vast majority of genetics research is confined to a relatively narrow subset of the global population, limiting the benefits of this research. Recommendations to ameliorate this issue frequently include calls to recruit diverse populations through community engagement, an approach that has been effective in genetics, but has not explicitly included Multiracial individuals, despite this being the fastest-growing population in the United States. As such, this study explored Multiracial individuals' perspectives on: (1) what "Multiracial community" means; (2) concerns regarding ancestry-based genetic testing; and (3) preferences for engaging in different stages of translational genetics research. Fourteen adults who self-identified as Multiracial participated in semi-structured interviews. We used deductive coding from study aims and inductive, iterative coding to identify new themes. Participants expressed diverse ideas about what characterizes the Multiracial community, and lacked clarity on definitions. Common concerns about genetics research included the accuracy of genetics research in its application for Multiracial individuals and the limitations of research to capture their diverse backgrounds. Participants preferred to be engaged during research design, recruitment, and result interpretation and communication. Participants suggested recruiting future study participants from younger, urban regions and emphasized that this is a multifaceted heterogeneous group that cannot easily be categorized. We describe the perspectives of Multiracial individuals, who are often excluded from genetics research because their diverse social identities do not fit traditional methods of categorization. This provides a foundation for developing tailored approaches to recruit and engage Multiracial participants in genetics research, ensuring future studies better reflect human diversity.

Background. In Japan, adolescents who entered genomic research under proxy consent are asked to re-consent at age 16 for newly collected data, while previously collected data remain usable without consent. Public perspectives on re-consent and data sharing are not well understood. To prepare a survey for adolescents, we used public and patient involvement (PPI) to refine the questionnaire and information sheet. Methods. Four stages of PPI were conducted: a kickoff meeting, two rounds of web-based feedback, and a final discussion. Five PPI members (aged 20–60 s, diverse backgrounds) provided iterative feedback on survey design, wording, and framing. All revisions were documented using GRIPP2–Long Form. Results. PPI members expressed diverse views on re-consent and acceptable secondary data use, supporting the relevance of the survey design. Feedback resulted in major revisions, including clearer terminology, unified wording, improved explanations of parent–child context, existing versus newly collected data, age categorization, and Japan’s opt-out procedures. Of 36 comments in the first round, 30 (83%) were incorporated; of 23 comments in the second round, 20 (87%) were incorporated. Conclusion. PPI enhanced the clarity, cultural relevance, and acceptability of materials for a survey on re-consent in pediatric genomic data sharing. As one of the first systematic PPI reports from Japan, this work demonstrates how systematic involvement strengthens ethically sensitive research and provides a transparent foundation for forthcoming surveys.Supplementary InformationThe online version contains supplementary material available at 10.1007/s12687-026-00907-6.