Precision medicine is increasingly transforming clinical practice, yet its effective implementation depends on adequately trained healthcare professionals. This study assessed genomic knowledge comfort, attitudes, ethical perceptions, and educational perspectives regarding precision medicine among medical students in Samborondón, Greater Guayaquil, Ecuador. A cross-sectional survey was conducted between August and November 2025 using a structured questionnaire. A total of 340 students participated. Descriptive and inferential statistical analyses, including non-parametric tests and Spearman correlation, were performed. Participants demonstrated relatively high but uneven genomic knowledge comfort (median 81.3
The literature provides limited evidence on the effectiveness of psychological interventions for individuals living with Huntington’s Disease (HD). This study aims to examine the role of psychological support in improving the well-being of individuals and families affected by HD. The study methodology builds on previous work conducted by the European Huntington Association (EHA). The study includes individuals across three categories: individuals at risk of HD, premanifest HD, or with an HD-negative genetic test. Eligible participants were offered eight online individual cognitive behavioural therapy (CBT) sessions followed by two group sessions. Assessments were performed at pre-intervention, after the individual sessions and after the group sessions. The primary outcomes were anxiety, depression, positive and negative affect, and quality of life. Twenty-one individuals participated in the study, of whom 33
The inaugural Congress of the Tunisian Society of Human Genomics (TSHG) was held from October 17 to 19, 2024, in Sousse, Tunisia, under the theme "Genomics for a Sustainable Healthcare System". This landmark event aimed to address the rapid advancements and ethical challenges in North Africa's genomic landscape. The congress convened an international assembly of researchers, clinicians, and policymakers. The scientific program featured plenary lectures, keynote presentations, and specialized workshops focused on integrating genomic medicine into national healthcare frameworks. Key discussions centered on emerging sequencing technologies, the ethical imperatives of informed consent, and data privacy in the era of big data. Specialized sessions highlighted population genomics insights derived from Tunisian cohorts, emphasizing rare diseases and cancer genetics. Workshops provided practical training in bioinformatic data analysis and genetic counseling standards. The meeting successfully established a strategic roadmap for advancing personalized medicine in Tunisia. By fostering multidisciplinary collaborations and setting the stage for broader international participation, the TSHG has laid the foundation for sustainable genomic research and clinical application in the region.
Early breast cancer risk identification is essential for targeted screening and prevention. Provider uptake of risk-stratified screening remains low, often due to limited education on risk assessment, clinical time restrictions, and limited resources for systematic implementation. Patient perspectives on incorporating screening tools into routine care are not well understood. This study elicited patient experiences and preferences regarding risk assessment and genetic testing in primary care. Twenty semi-structured interviews were conducted with individuals at average and high breast cancer risk. The interview guide was developed using the informed decision-making framework. Participants reviewed a decision aid and provided feedback on risk and genetic testing communication. Interviews were transcribed and thematic analysis was conducted by two independent coders. Study participants had an average age of 44 with 45
Equity has become central to genomics, yet dominant approaches - focused on fair representation and distribution - often overlook the relational and structural conditions through which genomic practices are produced and experienced. This paper reframes genomic justice by adding care and solidarity to the conversation. Care highlights lived experience, interdependence, and the relational work required to make genomic knowledge meaningful, while solidarity can help to create institutional arrangements grounded in shared vulnerability, indirect reciprocity, and non-humiliation. The paper applies this framework across key domains, including participation, data governance, benefit-sharing, and global collaboration, proposing shifts toward community-led governance, relational data stewardship, and long-term collective returns. It outlines practical design principles that embed equal dignity, trustworthiness, and mutual accountability into genomic institutions. Community genetics is particularly well positioned to operationalise this approach, given its grounding in families and communities and its emphasis on ongoing relationships. Strengthening these practices can support more just, caring, and resilient genomic futures.
While genetic testing (GT) has become more available over the past decade, it is unclear whether public awareness and use have increased proportionally. We aimed to evaluate national trends in GT awareness and usage. We performed a cross-sectional analysis of nationally representative data from the National Cancer Institute’s Health Information National Trends Survey (HINTS). We analyzed survey responses from HINTS 4 Cycle 1–4 (2011–2014), 5 Cycle 1 and 4 (2017, 2020), and 6 (2022). Primary outcomes were overall genetic testing awareness and uptake. Secondary analyses evaluated awareness and uptake of health-related genetic testing (e.g. disease risk, cancer, and carrier testing) among survey cycles in which specific testing modalities were available. Linear regression assessed crude trends and multivariable logistic regression estimated odds ratios (OR). Among 22,256 respondents, overall awareness of GT increased from 36.6
Neurofibromatosis type 1 (NF1) is a rare, genetically determined condition characterised by clinical variability, diagnostic uncertainty, and the need for long-term, multidisciplinary care. In this context, patients’ experiences are shaped not only by biomedical factors but also by interactions with healthcare professionals. This study explores how adults with NF1 define the characteristics of a “good doctor” based on their experiences within healthcare systems. A qualitative study was conducted using semi-structured, in-depth interviews with 93 adults diagnosed with NF1. An interpretive qualitative approach was adopted, and the data were analysed using Reflexive Thematic Analysis to examine how patients’ expectations toward physicians are formed in the context of ongoing care. Participants’ accounts revealed that the “good doctor” is understood as a context-dependent concept shaped by patients’ experiences rather than a fixed set of clinical competencies. While medical expertise was considered important, participants emphasised communication, empathy, and acknowledgement of patients’ perspectives and experiences. Experiences of delayed diagnosis, fragmented care, and inconsistent information were found to shape expectations toward physicians and influence trust in the healthcare system. Negative interactions, including dismissal of symptoms or lack of understanding, contributed to disengagement from care, whereas respectful, partnership-based relationships supported better coping with the condition. Patients’ expectations toward physicians are shaped by their long-term experiences of living with NF1 and navigating healthcare systems. The findings highlight the importance of integrating clinical expertise with patient-centred communication and coordinated care. Strengthening these aspects may improve patient trust, engagement, and overall quality of care in rare genetic conditions.
Inheritable conditions that affect appearance can influence a range of life experiences shaped by social, emotional, and cultural factors. For individuals with such conditions (e.g., craniofacial conditions), considerations about having children may be further complicated by the possibility of passing on the condition and its associated social challenges. This study explored how the visibility of inheritable conditions that affect appearance influences reproductive decision-making, with particular attention to decisions about having children and the use of reproductive technologies. Semi-structured interviews were carried out with 18 participants (16 female; 2 male) with a range of visible skin conditions (e.g., neurofibromatosis) and craniofacial conditions (e.g., Treacher Collins Syndrome) who had either considered having children, were currently pregnant or trying to conceive, or had had children within the last five years. Interviews were analysed using reflexive thematic analysis and revealed four main themes. In theme one, “Coping and adaptation in caring for a child with a visible difference”. parents described an emotional journey from initial distress toward solution-focused coping as they adapted to caring for a child with a visible difference, drawing on their own lived experiences as both a burden and a resource. Theme two, “Social perceptions, stigma, and responsibility in reproductive decision-making” illustrates how societal attitudes, stigma, and memories of negative school experiences shaped reproductive decisions, particularly views on natural conception, IVF-PGT, and termination. Theme three, “Managing uncertainty and control in reproductive choices” captured participants’ strategies to manage risk and regain a sense of control through prenatal testing and assisted reproduction, while navigating complex ethical dilemmas. Finally, in theme four, “Patient-identified needs as a framework for improved support” participants emphasised the need for unbiased genetic counselling, practical psychosocial support, and opportunities for peer connection. Overall, this study demonstrates that individuals draw on their lived experiences and anticipate stigma their children may face. These social considerations strongly influence choices around having children and reproductive technologies. The findings underline the importance of genetic counselling that explicitly recognises the role of stigma and societal attitudes, enabling practitioners to better support individuals in making informed decisions.
Background: Patients with a rare genetic disease face unmet needs deepened by the traditional American healthcare system. Social, educational, and financial support resources help address some of these challenges; however, for patients who are Spanish speaking, the language barrier makes it more difficult to attain such resources. This compounds with already existing healthcare disparities faced by the Latino/Hispanic community. This study explores the current state of resources available for patients in Alabama who are Spanish speaking with a rare genetic disease and identify specific areas for improvement. Methods: Eleven expert stakeholders who work with either rare genetic disease, patients who speak Spanish, or both, completed 1-hour online audio-only semi-structured interviews. Interviews focused on the current state of resources for this population and ideas for improvement. Transcripts were analyzed using reflexive thematic analysis. Results: A lack of sufficient access to Spanish speaking medical staff and interpreters prevents patients from accessing social support and the healthcare system. Additionally, digital or educational resources in Spanish are rarely accessible to patients. When resources are available they tend to be of high quality, but their implementation is inconsistent. This lack of accessible resources creates an undue burden for both patients and providers. This study identified that the resources that currently exist are often high quality, however most patients and providers cannot easily access them. To improve quality of care and reduce provider burden, organizations need to focus on increasing Spanish language access through staff that speak Spanish and consistent, high-quality, Spanish language resource implementation.
Genetic testing is increasingly used in clinical practice. This places new demands on non-genetic physicians (NGPs) to select appropriate tests, interpret complex results, and counsel patients about implications. In highly consanguineous countries such as Saudi Arabia, where the burden of hereditary diseases is high, these demands require a genomic-ready workforce. This study aimed to assess NGPs’ self-perceived knowledge and confidence regarding genetic testing and counseling, and to examine their association with demographic and professional characteristics. An online questionnaire was distributed and completed by 582 NGPs from all regions in Saudi Arabia. The questionnaire collected demographic data, self-assessments of knowledge and confidence, referral frequency to a genetic counselor or clinical geneticist, and resources used to obtain genetic information. The self-assessment of NGPs’ knowledge and confidence revealed a deficit. Results indicated moderate genetic knowledge among the NGPs, with a median of 4 (interquartile range 1–8) out of 16, and low confidence levels, with a median of 2 (interquartile range 0–4) out of 8. Consultants exhibited significantly higher knowledge and confidence compared with other ranks (p < 0.001). A strong positive correlation was observed between knowledge and confidence levels (Spearman’s rho = 0.796, p < 0.01). Over half of the NGPs (54.3
Our understanding and utilization of genetics in healthcare continues to increase, but historically excluded and underrepresented groups (e.g., racial minority groups, those living in rural areas, and individuals from lower socioeconomic backgrounds) are often left behind due to barriers in accessing genetic healthcare and research. Although research priorities have shifted toward greater inclusion, underrepresentation persists, potentially driven by ongoing negative healthcare experiences that compound barriers to accessing genetic research and healthcare services, creating a cycle of genomic healthcare disparities. However, there is limited research about how healthcare experiences may contribute to genomic healthcare disparities. We examined this knowledge gap by using data from the All of Us Research Program to investigate healthcare experiences of participants from underrepresented groups as well as participants with clinically diagnosed genetic conditions. We explored three survey questions which documented self-reported experiences when receiving healthcare (i.e., inclusion in medical decisions, being treated with respect by providers, and receiving easy to understand medical information). Survey question responses were analyzed within a regression framework which included self-identified race, age, gender identity, health insurance status, education and income levels, having a diagnosed genetic condition, and rural location as predictors. Results suggest many populations (e.g., minoritized racial and gender groups, individuals who have had to delay care due to living in a rural area, and those with genetic conditions) face inequities in healthcare experiences. These findings support the proposed conceptual model of a genomic healthcare disparity cycle and the need to address these negative healthcare experiences to break the cycle.
High-consanguinity rates in many Middle Eastern and North African populations have substantially increased the burden of autosomal recessive disorders, making carrier screening a critical public health priority. This narrative review synthesizes evidence published between 2020 and 2025 on carrier screening and genetic counseling in these populations, focusing on detection rates, counseling models, cultural acceptability, and key implementation barriers, including uptake, stigma, and equity. Carrier detection rates of 62–90
Myths and misconceptions surrounding sickle cell disease (SCD) can shape stigma and influence the treatment and interaction with healthcare services. In India, where SCD disproportionately affects tribal populations, limited evidence exists on myths and misconceptions across endemic regions. This study explored culturally embedded myths and misconceptions related to SCD among tribal communities in India and examined their implications for stigma and healthcare-seeking behaviour. A qualitative descriptive study was conducted across nine SCD-endemic tribal districts in India. Data, collected through in-depth interviews with key informants and focus group discussions with community members, were analysed using thematic content analysis. Themes were organised around domains of causation, transmission, heredity, prognosis and treatment. The study identified diverse SCD-related beliefs, myths and misconceptions across the study sites. These were organised around domains and grouped into four broad categories: locally rooted explanatory beliefs, including supernatural, spiritual, dietary and lifestyle-related explanations; misconceptions arising from incomplete biomedical understanding, particularly regarding contagion, heredity and consanguineous marriage; distorted interpretations of medical or programme-related messages, especially around marriage, reproduction and long-term treatment; and social consequences related to stigma, fatalism, perceived productivity and economic burden. These categories overlapped across sites, with some beliefs being locally specific and others commonly reported across tribal settings. SCD-related myths and misconceptions in tribal India are socially embedded and extend beyond simple informational gaps. Culturally responsive communication and counselling approaches that acknowledge local explanatory frameworks, while strengthening accurate understanding of inheritance, treatment and long-term care, are needed within SCD care programmes in endemic regions.
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.
Genetic services, including genetic testing and genetic counseling, are essential components of modern healthcare and play a critical role in diagnosis, management, and prevention of inherited disorders. In Pakistan, the burden of genetic disorders is substantially increased by high rates of consanguinity, limited public awareness, inadequate healthcare infrastructure, and the absence of formal genetic counseling services. This review evaluates the current status of genetic services in Pakistan, focusing on genetic testing facilities, genetic counseling, healthcare infrastructure, workforce limitations, ethical considerations, and recent initiatives aimed at improving genomic healthcare delivery. A narrative review of the literature was conducted using national and international studies related to medical genetics and genetic counseling. The findings indicate that genetic services in Pakistan remain limited, costly, and largely inaccessible within the public healthcare sector. Advanced diagnostic technologies, including whole exome/genome sequencing (WES/WGS), and non-invasive prenatal testing (NIPT), are mostly outsourced internationally, restricting access for much of the population. Furthermore, Pakistan lacks formal postgraduate training programs and professional accreditation systems for genetic counselors (GCs). Recent efforts by the Pakistani Society of Medical Genetics and Genomics (PSMG), including telehealth genetic clinics, educational programs, and international collaborations, represent important steps toward improving genetic services in resource-limited settings. This review emphasizes that establishing a national genomics policy, expanding local diagnostic infrastructure, and developing accredited genetic counseling training programs are urgently needed for the sustainable integration of genomic medicine into Pakistan’s healthcare system.
The primary management of SCD relies on orthodox medicine; however, many adults living with SCD also use herbal medicine as an alternative or complementary approach. Limited research exists on how patients perceive the use of herbal medicine within SCD care. This study explored the perceptions of herbal medicine use among adults living with SCD in Ghana. An exploratory qualitative design was employed, and purposive sampling was used to recruit 13 adults with SCD receiving care at the University of Ghana Medical Centre. In-depth, face-to-face, semi-structured interviews were conducted and audio-recorded with informed consent. Data were analysed using thematic analysis. Findings revealed that perceptions of herbal medicine were shaped by personal experiences, family and cultural influences, and interactions with healthcare providers. While orthodox medicine was widely trusted for managing acute crises and preventing complications, herbal remedies were commonly viewed as essential for holistic well-being, symptom relief, and disease prevention. The findings highlight strong social and familial networks that sustain herbal use but also expose limited communication between patients and healthcare providers, often resulting in concealment of herbal practices. Medical pluralism was a prominent feature of participants’ care-seeking behaviour, driven by affordability, accessibility, and cultural identity. Participants expressed a clear desire for open, non-judgmental dialogue and professional guidance on herbal medicine use, emphasising that ongoing engagement with healthcare services is vital for improving disease literacy among individuals with SCD. However, participants’ health literacy does not exclude the use of alternative approaches. Incorporating safe, validated herbal practices into formal healthcare could strengthen patient–provider relationships, build trust, and support holistic management of SCD.
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
Indigenous tribal communities are frequently underserved by genomic medicine because they are under-represented in research, often live in remote locations and have ethical and cultural perspectives that vary from westernised standpoints. The Rakeiora platform, a permissioning and analytical environment that incorporates Māori perspectives and ethical frameworks on how precision medicine research is best conducted was used to host a pharmacogenetic exemplar project to demonstrate proof of principle in a tribal community. The project was prospectively co-designed alongside community representatives through an extensive series of kanohi ki te kanohi (face-to-face) consultation hui, drawing on the strengths, insights, and aspirations of the community. Narratives socialising the study were metaphorically located in tribal-specific histories to improve participation. The cohort of 148 Māori individuals consented to have variants in CYP2C19 extracted from whole genome sequence datasets and correlated to the medicines they were prescribed and had dispensed over a 12-month period. Genotyping indicated that 7
