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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...
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...
Short Communication: Lived experience perspectives on genetic testing for a rare eye disease
Short Communication: Lived experience perspectives on genetic testing for a rare eye disease
This qualitative study explored the motivators and barriers for genetic testing for individuals with aniridia. Semi-struct...
Big advocacy, little recognition: the hidden work of Black patients in precision medicine
Big advocacy, little recognition: the hidden work of Black patients in precision medicine
As cost-effective next-generation genome sequencing rapidly develops, calls for greater inclusion of Black people in genom...
Are we nearly there yet? Starts and stops on the road to use of polygenic scores
Are we nearly there yet? Starts and stops on the road to use of polygenic scores
As technological advancements expand the accessibility and availability of molecular ...
Factors associated with adherence to BRCA1/2 mutation testing after oncogenetic counseling in long-surviving patients with a previous diagnosis of breast or ovarian cancer
Factors associated with adherence to BRCA1/2 mutation testing after oncogenetic counseling in long-surviving patients with a previous diagnosis of breast or ovarian cancer
BRCA1/2 mutations account for 5 to 10% of breast and 15% of ovarian cancers. Various guidelines on BRCA1/2 genetic counsel...
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