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Research and Publications
Ethical, Legal, Psychological, and Social Issues
| 5.12.2023
Exploring Parental Cystic Fibrosis Disclosure to Well Children
Cystic fibrosis (CF), a genetic disease and chronic illness, affects multiple organ systems and requires exceptional medical care and treatment. Few studies have assessed the diagnosis disclosure process to well...
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Genetic Counseling Theory, Methods and Practice
| 5.12.2023
BRCAShare—Assessment of an Animated Digital Message for Intrafamilial Communication of Pathogenic Variant Positive Test Results: A Feasibility Study
While genetic testing for hereditary breast and ovarian cancer syndrome (HBOC) is well-established in the field of medicine, family members' uptake of cascade genetic testing for known familial pathogenic...
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Minority and Health Disparities
| 5.12.2023
North American Genetic Counselors' Approach to Collecting and Using Ancestry in Clinical Practice
Current guidelines from the National Society of Genetic Counselors (NSGC) recommend that patients' ancestry be obtained when taking a family history. However, no study has explored how consistently genetic...
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Genetic Counseling Theory, Methods and Practice
| 5.12.2023
Evaluating a Communication Aid for Return of Genetic Results in Families with Hypertrophic Cardiomyopathy: A Randomized Controlled Trial
Genetic testing for hypertrophic cardiomyopathy (HCM) is considered a key aspect of management. Communication of genetic test results to the proband and their family members, can be a barrier to effective uptake. We...
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Education and Genetics Professional Workforce Issues
| 5.12.2023
Introduction of the Genetic Counseling Profession by Teachers in BIPOC-majority High Schools
The field of genetic counseling is racially and ethnically (RE) homogenous, with 90% of genetic counselors identifying as white. As awareness of genetic counseling increases interest in the career, one proposed...
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Ethical, Legal, Psychological, and Social Issues
| 5.12.2023
Clinical Geneticists' Views on and Experiences with Unsolicited Findings in next-generation Sequencing: “A Great Technology Creating New Dilemmas”
Unsolicited findings (UFs) from diagnostic genetic testing are a subject of debate. The emerging consensus is that some UFs from genetic testing should be disclosed, but recommendations on UF disclosure generally...
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Ethical, Legal, Psychological, and Social Issues
| 5.12.2023
Australian Healthcare Professionals' Perspectives on the Ethical and Practical Issues Associated with Genomic Newborn Screening
Newborn bloodspot screening (NBS) is a successful public health initiative that seeks to identify serious, treatable medical conditions. The increasing use of genomic sequencing (GS) in a wide range of medical...
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Genetic Counseling Theory, Methods and Practice
| 5.12.2023
A Descriptive Investigation of Clinical Practice Models used by Cardiovascular Genetic Counselors in North America
Cardiovascular genetic counseling has expanded as an established genetic counseling specialty over the last 20 years. Despite guidelines recommending genetic counseling for heritable cardiac diseases, there...
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Education and Genetics Professional Workforce Issues
| 5.12.2023
Factors that Influence Genetic Counselors' Participation in Research
Genetic counselors have skills and expertise in genetics and patient care that make them an asset to research and research teams. However, the National Society of Genetic Counselors (NSGC) found in 2020 that more...
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Genetic Counseling Theory, Methods and Practice
| 5.12.2023
Summary of the Experiences, Knowledge, Medical Management, and Family Communication of Monoallelic MUTYH Carriers
Germline genetic testing for inherited cancer risk is increasingly being performed with multigene panel testing with MUTYH often included on colorectal cancer- and polyposis-focused panels, as well as on...
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