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Parental consanguinity and the prevalence of congenital anomalies in Venezuela: a comparative analysis with the Latin American Collaborative Study of Congenital Malformations-ECLAMC
Parental consanguinity and the prevalence of congenital anomalies in Venezuela: a comparative analysis with the Latin American Collaborative Study of Congenital Malformations-ECLAMC
Parental consanguinity can increase the risk of selected congenital anomalies, but its population impact depends on local ...
Multiracial individuals’ perspectives on participating in genetics research
Multiracial individuals’ perspectives on participating in genetics research
The vast majority of genetics research is confined to a relatively narrow subset of the global population, limiting the be...
“I felt like a lone ranger”: experiences of Australian families living with -Associated Neurological Disorder
“I felt like a lone ranger”: experiences of Australian families living with -Associated Neurological Disorder
KIF1A-Associated Neurological Disorder (KAND) is a heterogeneous group of ultra-rare neurodegenerative conditions. Severe ...
Integrating genomic medicine into primary care –examining perceptions of community advisory board members
Integrating genomic medicine into primary care –examining perceptions of community advisory board members
The Alabama Genomic Health Initiative (AGHI), funded by the state of Alabama, aims to provide genomic testing, interpretat...
Factors contributing to the underdiagnosis of hereditary transthyretin amyloidosis (hATTR) in Black patients
Factors contributing to the underdiagnosis of hereditary transthyretin amyloidosis (hATTR) in Black patients
Hereditary transthyretin amyloidosis (hATTR) is a progressive, multisystemic, and life-threatening disease that disproport...
Development and feasibility testing of a conversational chatbot supporting genetic education and testing for hereditary cancer
Development and feasibility testing of a conversational chatbot supporting genetic education and testing for hereditary cancer
This study describes the development and feasibility testing of a digital health guide (DHG) to streamline genetic educati...
Underutilisation of hydroxyurea in sickle cell disease: a global scoping review of multilevel barriers and facilitators
Underutilisation of hydroxyurea in sickle cell disease: a global scoping review of multilevel barriers and facilitators
Hydroxyurea (HU) is an effective therapy for sickle cell disease (SCD) but remains underused worldwide. This scoping revie...
A primary care pharmacogenetic precision medicine pilot based on specific Māori tribal ethical frameworks and principles
A primary care pharmacogenetic precision medicine pilot based on specific Māori tribal ethical frameworks and principles
Indigenous tribal communities are frequently underserved by genomic medicine because they are under-represented in researc...
Impact of revised severity criteria on the acceptability of PGT-M for childhood-onset cancer predisposition syndromes: a survey of genetic professionals in Japan
Impact of revised severity criteria on the acceptability of PGT-M for childhood-onset cancer predisposition syndromes: a survey of genetic professionals in Japan
The scope of preimplantation genetic testing for monogenic disorders (PGT-M) in Japan, initially limited to severe childho...
Experiences of implementation of personalised risk estimates for breast cancer in clinical practice: a systematic review and qualitative synthesis
Experiences of implementation of personalised risk estimates for breast cancer in clinical practice: a systematic review and qualitative synthesis
Breast cancer risk prediction tools are increasingly used in clinical practice to guide early detection, prevention, and s...
Characterization of individuals with skeletal dysplasia at a referral center in Brazil
Characterization of individuals with skeletal dysplasia at a referral center in Brazil
Skeletal dysplasias are rare genetic disorders affecting bone and cartilage, often causing disproportionate short stature ...
Experiences of stigmatization and its impacts among individuals living with hereditary diseases and family members in Portugal: an exploratory study
Experiences of stigmatization and its impacts among individuals living with hereditary diseases and family members in Portugal: an exploratory study
Stigma is defined as the perception of an undesirable attribute that leads to discrimination against individuals and group...
“Hope at a better chance”: perspectives on genetic counseling and testing among black individuals with prostate cancer
“Hope at a better chance”: perspectives on genetic counseling and testing among black individuals with prostate cancer
Black individuals have the highest prostate cancer (PCa) incidence and mortality rates of any racial or ethnic group. Raci...
Identifying characteristics associated with genetic testing in the NICU
Identifying characteristics associated with genetic testing in the NICU
Genetic testing is an integral part of Neonatal Intensive Care Unit (NICU) care. There are reported disparities in both NI...
Stigmatisation experiences in families with hereditary conditions: an exploratory study
Stigmatisation experiences in families with hereditary conditions: an exploratory study
Hereditary conditions can pose several challenges to the individual and their family members. In addition to the symptoms ...
The impact of supplementing traditional risk information with polygenic risk score concerning type 2 diabetes and coronary heart disease on health behavior: a randomized controlled trial
The impact of supplementing traditional risk information with polygenic risk score concerning type 2 diabetes and coronary heart disease on health behavior: a randomized controlled trial
Polygenic risk scores (PRS) for different diseases are expected to become more widely available to the public in the comin...
Genomics as part of Portuguese undergraduate nursing programs: are we moving in the right direction?
Genomics as part of Portuguese undergraduate nursing programs: are we moving in the right direction?
The integration of genomics into nursing education has been a growing focus in recent years, as the role of genomics in he...
Co-designing ‘gene’, a smartphone app for genetics education and empowerment with and for the British Pakistani community: a methodological summary of the GENE-Ed project
Co-designing ‘gene’, a smartphone app for genetics education and empowerment with and for the British Pakistani community: a methodological summary of the GENE-Ed project
A lack of culturally appropriate genetic information prevents the British Pakistani community from engaging with genetic s...
An exploration of the perspectives of Dutch adults experiencing a genetic condition on human germline gene editing
An exploration of the perspectives of Dutch adults experiencing a genetic condition on human germline gene editing
Views of people with a genetic condition are crucial in deliberations on human germline gene editing (HGGE), but their per...
Working together: development of a genetic counselling curriculum in a medical genetics residency training program
Working together: development of a genetic counselling curriculum in a medical genetics residency training program
Medical geneticists are physicians who assess, diagnose, and manage individuals with rare genetic diseases. They work with...
Association between cancer screenings uptake and genetic testing for cancer risk among US adults: findings from HINTS 2017–2020
Association between cancer screenings uptake and genetic testing for cancer risk among US adults: findings from HINTS 2017–2020
Genetic testing for cancer risk is a vital tool for preventive care, yet its association with the uptake of evidence-based...
A qualitative exploration of interprofessional collaborative practice between genetic counselors and mental health providers
A qualitative exploration of interprofessional collaborative practice between genetic counselors and mental health providers
Genetic counselors (GCs) typically provide short-term counseling and assess patient needs, including the need for ongoing ...
Latina immigrants’ breast and colon cancer causal attributions: genetics is key
Latina immigrants’ breast and colon cancer causal attributions: genetics is key
Latinos in the US suffer health disparities including stage of disease at time of breast or colon cancer diagnosis. Unders...
Survey of attitude to human genome modification in Nigeria
Survey of attitude to human genome modification in Nigeria
Gene editing and mitochondrial replacement therapy (MRT) are biotechnologies used to modify the host nuclear and mitochond...
The impact of the Journal of Community Genetics: Good Health and Wellbeing, Quality Education, and Reduced Inequalities
The impact of the Journal of Community Genetics: Good Health and Wellbeing, Quality Education, and Reduced Inequalities
In the summer of 2023, the Journal of Community Genetics for the first time recei...
Genetic risk prediction in Hispanics/Latinos: milestones, challenges, and social-ethical considerations
Genetic risk prediction in Hispanics/Latinos: milestones, challenges, and social-ethical considerations
Genome-wide association studies (GWAS) have allowed the identification of disease-associated variants, which can be levera...
Retrospective chart analysis to determine the impact of a patient-facing digital risk stratification tool combined with a clinical screener for hereditary cancer genetic risk assessment triage in a community oncology clinic
Retrospective chart analysis to determine the impact of a patient-facing digital risk stratification tool combined with a clinical screener for hereditary cancer genetic risk assessment triage in a community oncology clinic
The purpose of this study was to evaluate the utility of adding a clinical screener to the patient-facing digital risk str...
The CPT1A Arctic variant: perspectives of community members and providers in two Alaska tribal health settings
The CPT1A Arctic variant: perspectives of community members and providers in two Alaska tribal health settings
Newborn screening in Alaska includes screening for carnitine palmitoyltransferase 1A (CPT1A) deficiency. The CPT1A Arctic ...
Prevalence of beta thalassemia carriers in India: a systematic review and meta-analysis
Prevalence of beta thalassemia carriers in India: a systematic review and meta-analysis
A large number of studies have reported that the prevalence of beta thalassemia carriers in India varies by ethnic groups....
“There should be one spot that you can go:” BRCA mutation carriers’ perspectives on cancer risk management and a hereditary cancer registry
“There should be one spot that you can go:” BRCA mutation carriers’ perspectives on cancer risk management and a hereditary cancer registry
Individuals who carry BRCA1 or BRCA2 pathogenic variants are recommended to have extensive cancer prevention screening and...
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