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Redefining the approach to rare diseases: the experience of “Casa dos Raros” in Brazil
Redefining the approach to rare diseases: the experience of “Casa dos Raros” in Brazil
Rare diseases include 6,000–8,000 different conditions, over 70% of them having a genetic cause. Most cases have ear...
Is Brazil following global trends in high-cost treatments? The case of Pompe Disease
Is Brazil following global trends in high-cost treatments? The case of Pompe Disease
Access to high-cost drugs for rare diseases poses global challenges, especially in low- and middle-income countries. Pompe...
Genetic counselling for psychiatric conditions: exploring current perceptions of family physicians and psychiatrists in Portugal
Genetic counselling for psychiatric conditions: exploring current perceptions of family physicians and psychiatrists in Portugal
Genetic counselling emerged as a specialized healthcare discipline in the 1960s, and since then, various sub-specialties h...
Healthcare delay in neurogenetic disorders of adult onset and the role of predictive genetic testing
Healthcare delay in neurogenetic disorders of adult onset and the role of predictive genetic testing
Healthcare delay (HCDe) is an important but not well-known issue in genetic disorders, especially in tandem nucleotide rep...
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...
A qualitative study to evaluate the preparedness of community paediatricians for genomic medicine in England - ready for take-off?
A qualitative study to evaluate the preparedness of community paediatricians for genomic medicine in England - ready for take-off?
Genomic medicine (GM) was mainstreamed across the National Health Service (NHS) in England in 2018. Non-genetics healthcar...
“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...
Experience of people with Biochemical Genetic Disorders and their families accessing Genetic Counselling and Genetic Testing in the Irish Republic
Experience of people with Biochemical Genetic Disorders and their families accessing Genetic Counselling and Genetic Testing in the Irish Republic
National and international reports recommend that genetic counselling should be made available to parents of children livi...
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...
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...
Healthcare and support experiences of adolescents and young adults diagnosed with 47,XXY, 47,XXX, and 48,XXYY
Healthcare and support experiences of adolescents and young adults diagnosed with 47,XXY, 47,XXX, and 48,XXYY
Sex chromosome aneuploidies (SCAs) are among the most common chromosomal conditions. There is little scholarship on how ad...
Receiving de novo genetic diagnoses for autism with intellectual disability: parents’ views of impacts on families’ reproductive decisions
Receiving de novo genetic diagnoses for autism with intellectual disability: parents’ views of impacts on families’ reproductive decisions
Parents of children with autism who receive genetic diagnoses of de novo variants face challenges in understanding the imp...
Relationship satisfaction in adults with phenylketonuria is positively associated with following recommended treatment, having a partner involved in management, and maintaining good health
Relationship satisfaction in adults with phenylketonuria is positively associated with following recommended treatment, having a partner involved in management, and maintaining good health
Phenylketonuria (PKU) is a metabolic condition that requires treatment for life. There is increasing evidence that chronic...
Benefits and concerns of expanded carrier screening: what do pregnant Latina women in Texas think?
Benefits and concerns of expanded carrier screening: what do pregnant Latina women in Texas think?
The American College of Medical Genetics and Genomics (ACMG) recommends carrier screening for all pregnant women regardles...
A feasible molecular diagnostic strategy for rare genetic disorders within resource-constrained environments
A feasible molecular diagnostic strategy for rare genetic disorders within resource-constrained environments
Timely and accurate diagnosis of rare genetic disorders is critical, as it enables improved patient management and prognos...
Growth in perceived clinical genetics competency among primary care providers participating in genomic population health screening
Growth in perceived clinical genetics competency among primary care providers participating in genomic population health screening
Limited competency in genetics among primary care providers (PCPs) is a barrier to use of genetic information in healthcar...
Ethics of artificial intelligence in prenatal and pediatric genomic medicine
Ethics of artificial intelligence in prenatal and pediatric genomic medicine
This paper examines the ethics of introducing emerging forms of artificial intelligence (AI) into prenatal and pediatric g...
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