Journal of Community Genetics - 2024

67 articles | Last updated: 2025-12-03 14:12:57
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T A T A T A T A
Experts’ perspectives on human gene editing in Switzerland
Development of a digital risk-prediction tool based on family health history for the general population: legal and ethical implications
Basic and translational research in rare diseases in low- and middle-income countries: challenges and solutions
Birth defects reporting and surveillance in India: a narrative review
Identifying key factors for recurrence of genetic disorder: insights from Indian families with multiple affected children
Motivations, perceptions and impacts of direct-to-consumer genetic testing among users in Brazil
Knowledge and attitudes towards genomic medicine and pharmacogenomics of medical undergraduate students in Sri Lanka: a cross-sectional study
Engaging communities: A scoping literature review of community-based participatory research in genetics service delivery settings
Prevalence of HLA-B*58:01 allele among Malay, Chinese and Indian ethnic patients with gout attending primary care clinics in Malaysia Malay, Chinese, Indian
Population molecular genetics in Brazil: From genomic databases and research to the implementation of precision medicine
Key challenges in developing a gene therapy for Usher syndrome: machine-assisted scoping review
Knowledge and perception of medical students on genetics in the genomic era
Key contextual factors involved with participation in medical and genomic screening and research for African American and White Americans: a qualitative inquiry
Factors influencing pregnant women’s decision to accept or decline prenatal screening and diagnosis – a qualitative study
Correction: Improving the communication of multifactorial cancer risk assessment results for different audiences: a co-design process
Acceptability of dried blood spot collection by primary caregivers of Filipino patients with maple syrup urine disease (MSUD) and phenylketonuria (PKU)
Opportunities and challenges for identifying undiagnosed Rare Disease patients through analysis of primary care records: long QT syndrome as a test case
Feasibility of an environmental scan–based approach to collecting information about factors impacting cancer genetics services in Latin American countries
Knowledge, attitude and acceptance regarding bone marrow transplantation in caregivers of beta-thalassemia major patients
Spinal muscular atrophy carrier screening program: awareness and attitude of healthcare professionals in Turkey
Do not overlook the possibility of genome-edited somatic cells ending up in the human germline
Negative results from DNA-based population screening for adult-onset diseases: the recipients’ experience
Sickle cell disease awareness and perception among Christian religious leaders in Accra Metropolis: a qualitative study
Genetic testing perspectives in Pakistani population: a survey on knowledge, attitudes, awareness, and concerns
Improving the communication of multifactorial cancer risk assessment results for different audiences: a co-design process
What do women want to see in a personalized breast cancer risk report? A qualitative study of Asian women of two countries
How to communicate and what to disclose to participants in a recall-by-genotype research approach: a multistep empirical study
Building a National Policy for Rare Disease in Brazil
Research participant perceptions of personal utility in disclosure of individual research results from genomic analysis
The mentee report: outcomes from implementing a mentorship program for international genetic counseling applicants
Raising awareness and education of genetic testing and counseling through fotonovelas among Latina women at risk for hereditary breast and ovarian cancer
From stigma to increased social acceptance? Living with Machado-Joseph disease in São Miguel, Azores, Portugal
The importance of geographic and sociodemographic aspects in the characterization of mucopolysaccharidoses: a case series from Ceará state (Northeast Brazil)
Deciphering the needs of patients with hereditary breast and ovarian Cancer in the Process of Genetic Counseling to Inform the Development of a Mobile Support App: a qualitative study in Germany
Teaching and training of human resources for genetics and genomics in Brazil
Barriers, motivators and strategies to increase participation in genetic research among Asian and Black families of autistic individuals
“I don’t think people should die young”: perspectives of parents with children diagnosed with familial hypercholesterolemia
Knowledge, attitudes, and practices of primary healthcare practitioners in low- and middle-income countries: a scoping review on genetics
Parental perspectives regarding the return of genomic research results in neurodevelopmental disorders in South Africa: anticipated impact and preferences
Is Tunisia ready for precision medicine? Challenges of medical genomics within a LMIC healthcare system
Exploring family communication preferences in hereditary breast and ovarian cancer and Lynch syndrome: a national Canadian survey
“Living with a question mark”: psychosocial experience of Portuguese young adults at risk for hereditary amyloid transthyretin amyloidosis with polyneuropathy Portuguese
Congenital anomalies in Santa Catarina, Southern Brazil: macroregional and temporal birth prevalence for the period 2011–2020
“Unnatural resources?”: parallels and distinctions between the Newfoundland Genome and traditional resource sectors
Knowledge of genetics and attitudes toward genetic testing among university students in Indonesia
Prevalence of congenital anomalies and prenatal diagnosis by birth institution (public vs. non-public): indicators of inequality in access to elective termination of pregnancy for fetal anomalies
Family communication of cancer genetic test results in an ethnically diverse population: a qualitative exploration of more than 200 patients
Health-related roles of older generations in families with inherited genetic conditions: a scoping review
Caregiver-reported barriers to care for children and adults with Williams Syndrome
The acceptability and clinical impact of using polygenic scores for risk-estimation of common cancers in primary care: a systematic review non-European ancestry
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 need to set explicit goals for human germline gene editing public dialogues
Patient perspectives on pharmacogenomic (PGx) testing for antidepressant prescribing in primary care: a qualitative description study
Comparative assessment of quality of life among adolescents with sickle cell disease and sickle cell trait: evidence from Odisha, India
A collaborative model for Medical Genetics services delivery in Portugal: a multidisciplinary perspective
Research biobank participants attitudes towards genetic exceptionalism and health record confidentiality
The urgency for a change in genetics healthcare provision: views from Portuguese medical geneticists
Understanding perceptions of tumor genomic profile testing in Black/African American cancer patients in a qualitative study: the role of medical mistrust, provider communication, and family support
Public participation in human genome editing research governance: what do scientists think?
Development of a culturally targeted chatbot to inform living kidney donor candidates of African ancestry about APOL1 genetic testing: a mixed methods study African ancestry; Black
Endline assessment of knowledge about sickle cell disease among the tribal community of Chhotaudepur district of Gujarat
Attitudes of medical professionals toward fragile X carrier screening and genetic counseling in China
Advertisement by medical facilities as an opportunity route of APOE genetic testing in Japan: a website analysis
Empowerment of genetic information by women at-risk of being carriers of Duchenne and Becker muscular dystrophies
‘Clarifying’, ‘assuming’, and ‘reducing’ stigma: a commentary on stigma in genetics
Healthcare professionals’ experiences with expanded noninvasive prenatal screening: challenges and solutions
Supporting the continuous development and use of a patient partnership framework in European rare disease networks (ERNs): a scoping review of frameworks in the scientific literature