Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiomyopathy, and it is a leading cause of sudden cardiac death (SCD) in young people. Recessive genetic disorders are especially prevalent in the Middle East and North Africa (MENA) region due to consanguinity, which affects the genetic landscape of hereditary disorders. Here we conducted a systematic review of mutations in patients with HCM in the MENA and report genotype-phenotype associations to provide an evidence base for personalized diagnostic and therapeutic interventions. We systematically searched the PubMed, ProQuest, and Scopus databases from inception until October 2025 to collect all genetic data and phenotypes of patients with HCM in the MENA. Broad search terms were used to capture all relevant literature describing genetic variants associated with HCM in the MENA region including inheritance patterns and genotype-phenotype associations. The database search returned 448 studies, with 17 meeting inclusion criteria. 14 studies were case series, 2 studies were case reports, and 1 was a case-control study. In 1323 HCM subjects in the MENA, there were 107 genetic variants in 21 genes. The majority of the variants occurred in MYBPC3 and MYH7, consistent with other populations. However, there were also homozygous variants in recessive genes, founder mutations, and novel variants in non-sarcomeric genes in the region, with patients experiencing more severe clinical phenotypes. To our knowledge, this is the first systematic review on genetic variants associated with HCM in the MENA region. The genetic landscape of HCM is complex and unique in the MENA. The underrepresentation of MENA populations in global genomic resources remains a barrier to variant interpretation. Region-specific gene panels may be required to advance the diagnosis of HCM in the region.
Sickle cell disease (SCD) is a significant public health issue in India. It is highly prevalent in tribal areas where access to care is limited. Hence, the National Sickle Cell Anaemia Elimination Mission(NSCAEM) was launched to improve screening, early diagnosis, and comprehensive care of SCD in India. However, healthcare workers, particularly Accredited Social Health Activists (ASHAs) and Auxiliary Nurse Midwives (ANMs) are crucial pillars for its community level implementation. This study explored their perceptions, attitudes and readiness toward SCD control efforts and initiatives. The study included qualitative data collection in the tribal block of Palghar district, Maharashtra, India through eight Focus Group Discussions (FGDs) among 57 ASHAs and 18 In-depth Interviews (IDIs) with ANMs. Analysis was carried out by deductive thematic content approach. The findings revealed that, while most ANMs were aware of the hereditary nature of SCD, ASHAs demonstrated limited understanding of genetic transmission and differentiation between carrier and disease status. Awareness of diagnostic modalities, screening strategies and management practices was limited along with a lack of knowledge about thalassemia and other hemoglobinopathies across both groups. Stigma, misconceptions, fear of blood tests, reliance on traditional healers, economic constraints and poor awareness within communities were key barriers. The study provides context-specific insights into the community management of SCD and highlights the need for strengthening the capacity of frontline health care workers through structured training and participatory learning approaches. The proposed community–facility interface model can support effective implementation of the NSCAEM of India in tribal settings.
Since 2019, reproductive partners in Belgium have been able to access a reproductive genetic carrier screening (RGCS) test that screens for more than 1,000 genes associated with autosomal recessive and X-linked conditions. This study explored Belgian genetic professionals’ views on reporting individual versus couple-based results, as well as the management of additional findings (AFs) and variants of uncertain significance (VUSs) in the specific context of RGCS. Between December 2023 and April 2024, semi-structured interviews were conducted with 18 trained genetic professionals working across six Belgian Centers for Human Genetics, including clinical geneticists, genetic counsellors, and laboratory staff. Participants were predominantly female (n = 14/18) with a mean age of 44 years (range 30–61). All interviews were audio-recorded, transcribed verbatim, and analyzed using inductive content analysis. Most participants favored couple-based reporting and supported reporting AFs with clinical utility, while opposing the disclosure of VUSs. While views diverged on whether to use opt-in or opt-out approaches for reporting individual results, there was greater consensus on their application to AFs. Participants’ perspectives were shaped by the perceived objectives of RGCS, the availability of qualitative pre-test counselling, and practical implementation considerations. Our findings highlight broad support for current reporting practices in Belgium, while identifying remaining challenges such as the need to expand counselling capacity to ensure responsible and sustainable implementation of RGCS in Belgium.
Uncommon given names have long carried social and cultural meanings that may influence clinical perceptions and healthcare interactions. This study examined whether the rarity of given names among children attending a pediatric medical genetics service in Mexico is associated with a higher likelihood of attending for evaluation of rare or inherited diseases. This observational, retrospective, cross-sectional study compared name records from the Medical Genetics clinic at Hospital Pediátrico Villa (HPV; n = 206, first year of operation) against the national INEGI population database (2017–2021; n > 10 million). Names were classified as uncommon using a pre-specified frequency threshold (< 1 in 13,463), with explicit conventions for compound names and spelling variants. A sensitivity analysis estimated the statistical power achieved across a range of hypothetical odds ratios (OR 1.5-6), using the observed proportion of uncommon names in the reference population (64.5
Kenya is at a transitional point in advancing human genomics research and its applications particularly for non-communicable diseases. While there are foundational legal and institutional infrastructures in place there are still significant governance gaps that exist that need to be addressed before large-scale human genomic research, and genomic medicine can be implemented in a responsible manner. This is a report on the perspectives gathered from symposium participants attending the 2nd Human Genetics and Genomics Society of Kenya (HGGSK) symposium, held during 16th KEMRI Annual Scientific and Health Conference. It draws on narrative/ descriptive synthesis of expert speaker presentations and a structured survey completed by symposium attendees to provide insight on ethics, equity, and genomic data governance in Kenya. Most respondents 13/23 (57
