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In the last decades, genetics has experienced significant technological advancements worldwide. However, in Portugal, seri...
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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...
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A collaborative model for Medical Genetics services delivery in Portugal: a multidisciplinary perspective
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Empowerment of genetic information by women at-risk of being carriers of Duchenne and Becker muscular dystrophies
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Educational tools support informed decision-making for genetic carrier screening in a heterogenic Israeli population
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Advertisement by medical facilities as an opportunity route of APOE genetic testing in Japan: a website analysis
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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...
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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...
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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...
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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...
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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 ...
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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...
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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...
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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...
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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...
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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
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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 ...
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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....
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“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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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...
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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...
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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...
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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...
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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...
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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...
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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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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...
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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...
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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 ...
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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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