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The acceptability and clinical impact of using polygenic scores for risk-estimation of common cancers in primary care: a systematic review
The acceptability and clinical impact of using polygenic scores for risk-estimation of common cancers in primary care: a systematic review
Polygenic scores (PGS) have been developed for cancer risk-estimation and show potential as tools to prompt earlier referr...
Knowledge of genetics and attitudes toward genetic testing among university students in Indonesia
Knowledge of genetics and attitudes toward genetic testing among university students in Indonesia
The development in human genetics must be tracked with the knowledge to provide support and positive attitudes towards gen...
Congenital anomalies in Santa Catarina, Southern Brazil: macroregional and temporal birth prevalence for the period 2011–2020
Congenital anomalies in Santa Catarina, Southern Brazil: macroregional and temporal birth prevalence for the period 2011–2020
Congenital anomalies (CAs) are an important cause of infant mortality and efficient surveillance is necessary for their pr...
“Living with a question mark”: psychosocial experience of Portuguese young adults at risk for hereditary amyloid transthyretin amyloidosis with polyneuropathy
“Living with a question mark”: psychosocial experience of Portuguese young adults at risk for hereditary amyloid transthyretin amyloidosis with polyneuropathy
This study is the first to explore the psychosocial experience of young Portuguese adults at genetic risk for hereditary a...
Exploring family communication preferences in hereditary breast and ovarian cancer and Lynch syndrome: a national Canadian survey
Exploring family communication preferences in hereditary breast and ovarian cancer and Lynch syndrome: a national Canadian survey
Individuals affected with cancer predisposition (CPS) syndromes such as BRCA1, BRCA2 or Lynch syndrome (LS) are at an elev...
Is Tunisia ready for precision medicine? Challenges of medical genomics within a LMIC healthcare system
Is Tunisia ready for precision medicine? Challenges of medical genomics within a LMIC healthcare system
As one of the key tools on the precision medicine workbench, high-throughput genetic testing has enormous promise for impr...
Parental perspectives regarding the return of genomic research results in neurodevelopmental disorders in South Africa: anticipated impact and preferences
Parental perspectives regarding the return of genomic research results in neurodevelopmental disorders in South Africa: anticipated impact and preferences
Few policies and little research exist regarding the disclosure of genomic results to research participants in Africa. As ...
Knowledge, attitudes, and practices of primary healthcare practitioners in low- and middle-income countries: a scoping review on genetics
Knowledge, attitudes, and practices of primary healthcare practitioners in low- and middle-income countries: a scoping review on genetics
Individualised treatment, including genetic services, calls for an increased role of primary healthcare practitioners (pHC...
Teaching and training of human resources for genetics and genomics in Brazil
Teaching and training of human resources for genetics and genomics in Brazil
This manuscript reviewed the state of the art about the teaching and training of human resources for genetics and genomics...
Barriers, motivators and strategies to increase participation in genetic research among Asian and Black families of autistic individuals
Barriers, motivators and strategies to increase participation in genetic research among Asian and Black families of autistic individuals
Genetic research can help advance our knowledge of autism and positively impact the progress of care for individuals with ...
The importance of geographic and sociodemographic aspects in the characterization of mucopolysaccharidoses: a case series from Ceará state (Northeast Brazil)
The importance of geographic and sociodemographic aspects in the characterization of mucopolysaccharidoses: a case series from Ceará state (Northeast Brazil)
Geographic and sociodemographic aspects may influence the natural history and epidemiology of mucopolysaccharidoses (MPS)....
The urgency for a change in genetics healthcare provision: views from Portuguese medical geneticists
The urgency for a change in genetics healthcare provision: views from Portuguese medical geneticists
In the last decades, genetics has experienced significant technological advancements worldwide. However, in Portugal, seri...
Research biobank participants attitudes towards genetic exceptionalism and health record confidentiality
Research biobank participants attitudes towards genetic exceptionalism and health record confidentiality
Understanding attitudes towards genetic exceptionalism and confidentiality is important in guiding policies regarding spec...
A collaborative model for Medical Genetics services delivery in Portugal: a multidisciplinary perspective
A collaborative model for Medical Genetics services delivery in Portugal: a multidisciplinary perspective
Battista RN, Blancquaert I, Laberge AM, van Schendel N, Leduc N (2012) Genetics in health care: an overview of current and...
Empowerment of genetic information by women at-risk of being carriers of Duchenne and Becker muscular dystrophies
Empowerment of genetic information by women at-risk of being carriers of Duchenne and Becker muscular dystrophies
The emergence of therapies acting on specific molecular targets for Duchenne and Becker muscular dystrophies (DBMD) led to...
Educational tools support informed decision-making for genetic carrier screening in a heterogenic Israeli population
Educational tools support informed decision-making for genetic carrier screening in a heterogenic Israeli population
Reproductive genetic carrier screening (RGCS) aims to provide couples with information to make informed decisions. Since 2...
Advertisement by medical facilities as an opportunity route of APOE genetic testing in Japan: a website analysis
Advertisement by medical facilities as an opportunity route of APOE genetic testing in Japan: a website analysis
The APOE-ε4 allele(s) is a strong risk factor for Alzheimer’s disease (AD). A significant point of access for t...
Wikipedia as an academic service-learning tool in science and technology: higher education case from Siberia
Wikipedia as an academic service-learning tool in science and technology: higher education case from Siberia
Wikipedia, the open crowdsourced encyclopedia that anyone can edit, ranks among the top ten most-visited websites globally...
Comparative assessment of quality of life among adolescents with sickle cell disease and sickle cell trait: evidence from Odisha, India
Comparative assessment of quality of life among adolescents with sickle cell disease and sickle cell trait: evidence from Odisha, India
The present study aims to assess the quality of life (QOL) of adolescents with sickle cell disease (SCD) and sickle cell t...
The need to set explicit goals for human germline gene editing public dialogues
The need to set explicit goals for human germline gene editing public dialogues
Given the potentially large ethical and societal implications of human germline gene editing (HGGE) the urgent need for pu...
The cost of genetic diagnosis of suspected hereditary pediatric cataracts with whole-exome sequencing from a middle-income country perspective: a mixed costing analysis
The cost of genetic diagnosis of suspected hereditary pediatric cataracts with whole-exome sequencing from a middle-income country perspective: a mixed costing analysis
Up to 25% of pediatric cataract cases are inherited. There is sparse information in the literature regarding the cost of w...
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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