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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...
When and how to enlighten citizens on genetics and hereditary cancer: a web survey of online video viewers
When and how to enlighten citizens on genetics and hereditary cancer: a web survey of online video viewers
With the rapid expansion of genomic medicine, more citizens are compelled to think about genetics in their daily lives. Th...
The Circassians and the Chechens in Jordan: results of a decade of epidemiological and genetic studies
The Circassians and the Chechens in Jordan: results of a decade of epidemiological and genetic studies
Circassians and Chechens in Jordan, both with Caucasian ancestry, are genetically isolated due to high rate of endogamous ...
Perceived control is significantly associated with psychological adaptation in individuals with known or suspected inborn errors of immunity
Perceived control is significantly associated with psychological adaptation in individuals with known or suspected inborn errors of immunity
Inborn errors of immunity (IEIs) are rare genetic disorders characterized by increased susceptibility to infection and imm...
Population diversity and equity in the genomic era: going global to return to the local
Population diversity and equity in the genomic era: going global to return to the local
Advances in precision medicine depend on the quantity and quality of available genomic information. Various articles alert...
Experiences of cystic fibrosis newborn screening and genetic counseling
Experiences of cystic fibrosis newborn screening and genetic counseling
The South Carolina cystic fibrosis (CF) newborn screening (NBS) program changed in 2019 to include CFTR genotyping for bab...
Developing and assessing a kin keeping scale with application to identifying central influencers in African American family networks
Developing and assessing a kin keeping scale with application to identifying central influencers in African American family networks
Promoting family communication about inherited disease risk is an arena in which family systems theory is highly relevant....
Genetic services survey—experience of people with rare diseases and their families accessing genetic services in the Irish Republic
Genetic services survey—experience of people with rare diseases and their families accessing genetic services in the Irish Republic
Irish Health Service objectives state that patients with rare diseases should have timely access to genomic diagnostics wi...
Quality of life of Brazilian families who have children with Fragile X syndrome: a descriptive study
Quality of life of Brazilian families who have children with Fragile X syndrome: a descriptive study
This study aimed to assess the Family Quality of Life (FQoL) of Brazilian families with male children with Fragile X syndr...
Psychosocial impacts of caring for a child with a genetic disorder in Accra, Ghana
Psychosocial impacts of caring for a child with a genetic disorder in Accra, Ghana
Caregivers caring for a child with a genetic condition may experience psychosocial distress, which may be compounded by th...
Genetic counseling in sickle cell disease: Insights from the Indian tribal population
Genetic counseling in sickle cell disease: Insights from the Indian tribal population
Sickle cell disease (SCD) is an inherited disorder of hemoglobin. With an overall prevalence of 4.3%, India is the second-...
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