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Negative results from DNA-based population screening for adult-onset diseases: the recipients’ experience
Negative results from DNA-based population screening for adult-onset diseases: the recipients’ experience
DNA-based population screening for adult-onset diseases holds promise for advancing personalized medicine and improving pu...
Spinal muscular atrophy carrier screening program: awareness and attitude of healthcare professionals in Turkey
Spinal muscular atrophy carrier screening program: awareness and attitude of healthcare professionals in Turkey
Spinal Muscular Atrophy (SMA) is an autosomal recessive disease caused by variants in the SMN1 gene, leading to progressiv...
Feasibility of an environmental scan–based approach to collecting information about factors impacting cancer genetics services in Latin American countries
Feasibility of an environmental scan–based approach to collecting information about factors impacting cancer genetics services in Latin American countries
Clinical cancer genetics services are expanding globally, but national policy and health care systems influence availabili...
Opportunities and challenges for identifying undiagnosed Rare Disease patients through analysis of primary care records: long QT syndrome as a test case
Opportunities and challenges for identifying undiagnosed Rare Disease patients through analysis of primary care records: long QT syndrome as a test case
Patients with rare genetic diseases frequently experience significant diagnostic delays. Routinely collected data in the e...
Acceptability of dried blood spot collection by primary caregivers of Filipino patients with maple syrup urine disease (MSUD) and phenylketonuria (PKU)
Acceptability of dried blood spot collection by primary caregivers of Filipino patients with maple syrup urine disease (MSUD) and phenylketonuria (PKU)
MSUD and PKU require lifetime management hence, regular monitoring of amino acid levels is needed to achieve good metaboli...
Factors influencing pregnant women’s decision to accept or decline prenatal screening and diagnosis – a qualitative study
Factors influencing pregnant women’s decision to accept or decline prenatal screening and diagnosis – a qualitative study
Background and Objective: Prenatal diagnosis for chromosomal anomalies is frequently used worldwide. It is import...
Key contextual factors involved with participation in medical and genomic screening and research for African American and White Americans: a qualitative inquiry
Key contextual factors involved with participation in medical and genomic screening and research for African American and White Americans: a qualitative inquiry
Tremendous progress has been made promoting diversity in recruitment for genomic research, yet challenges remain for sever...
Key challenges in developing a gene therapy for Usher syndrome: machine-assisted scoping review
Key challenges in developing a gene therapy for Usher syndrome: machine-assisted scoping review
Despite compelling empirical evidence demonstrating its efficacy, gene therapies for usher syndrome (USH) are not yet avai...
Knowledge and perception of medical students on genetics in the genomic era
Knowledge and perception of medical students on genetics in the genomic era
The importance of medical genetics in modern healthcare underscores the urgent need for comprehensive genetics education f...
Engaging communities: A scoping literature review of community-based participatory research in genetics service delivery settings
Engaging communities: A scoping literature review of community-based participatory research in genetics service delivery settings
Genetic counseling (GC) services have the potential to improve health outcomes, yet there are documented disparities in th...
Knowledge and attitudes towards genomic medicine and pharmacogenomics of medical undergraduate students in Sri Lanka: a cross-sectional study
Knowledge and attitudes towards genomic medicine and pharmacogenomics of medical undergraduate students in Sri Lanka: a cross-sectional study
Genomic medicine and pharmacogenomics (PGX) are emerging practices in medicine that play a vital role in providing persona...
Motivations, perceptions and impacts of direct-to-consumer genetic testing among users in Brazil
Motivations, perceptions and impacts of direct-to-consumer genetic testing among users in Brazil
Numerous studies have focused on direct-to-consumer genetic testing (DTC-GT), but little is known about consumers outside ...
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...
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...
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...
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...
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...
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...
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...
Caregiver-reported barriers to care for children and adults with Williams Syndrome
Caregiver-reported barriers to care for children and adults with Williams Syndrome
Individuals with Williams syndrome (WS) may experience a variety of medical, behavioral, and educational concerns. The pri...
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...
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