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Attitudes toward genetic testing, family planning and preimplantation genetic testing in families with a germline CDKN2A pathogenic variant
Individuals with a germline CDKN2A pathogenic variant (PV) have a highly increased life time risk of melanoma and pancreatic cancer. This...
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Diagnostic Genetic Testing Core Concepts and the Wider Context for Human DNA Analysis
Over the last decade, technical advances have allowed genomic testing which provides a great opportunity for diagnosis but also an increased chance...
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Expanding access to genetic testing for pancreatic cancer
Among individuals with pancreatic ductal adenocarcinoma (PDAC) 5–10% have a pathogenic germline variant (PGV) in a PDAC susceptibility gene....
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Nigerian parents’ perspectives on genetic testing in their children with genetic eye diseases
The decision for genetic testing in children is usually taken by their parents or caregivers, and may be influenced by sociocultural and ethical...
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Cascade genetic testing: an underutilized pathway to equitable cancer care?
The Precision Medicine Initiative was launched upon the potential of genomic information to tailor medical care. Cascade genetic testing represents a...
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Guidelines for genetic testing in prostate cancer: a sco** review
BackgroundGenetic testing, to identify pathogenic or likely pathogenic variants in prostate cancer, is valuable in guiding treatment decisions for...
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EMQN: Recommendations for genetic testing in inherited cardiomyopathies and arrhythmias
Inherited cardiomyopathies and arrhythmias (ICAs) are a prevalent and clinically heterogeneous group of genetic disorders that are associated with...
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Cascade genetic testing for hereditary cancer syndromes: a review of barriers and breakthroughs
Germline genetic sequencing is now at the forefront of cancer treatment and preventative medicine. Cascade genetic testing, or the testing of at-risk...
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Community concerns about genetic discrimination in life insurance persist in Australia: A survey of consumers offered genetic testing
Fears of genetic discrimination in life insurance continue to deter some Australians from genetic testing. In July 2019, the life insurance industry...
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Knowledge of genetics and attitudes toward genetic testing among university students in Indonesia
The development in human genetics must be tracked with the knowledge to provide support and positive attitudes towards genetic research and its...
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Diversity of thought: public perceptions of genetic testing across ethnic groups in the UK
Genetic testing is becoming rapidly more accessible to the general populous either through or outside healthcare systems. Few large-scale studies...
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Mainstream genetic testing for women with ovarian cancer provides a solid basis for patients to make a well-informed decision about genetic testing
BackgroundThere is a growing need for genetic testing of women with epithelial ovarian cancer. Mainstream genetic testing provides an alternative...
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Genetic Testing in Cancer
This chapter introduces the concept of cancer as a genetic disease, and the consequent need for genetic testing to help guide diagnosis and...
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EMQN best practice guidelines for genetic testing in hereditary breast and ovarian cancer
Hereditary Breast and Ovarian Cancer (HBOC) is a genetic condition associated with increased risk of cancers. The past decade has brought about...
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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-structured interviews were...
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Molecular Genetic Testing Approaches for Retinitis Pigmentosa
Retinitis pigmentosa (RP) affects approximately 1 in 4000 individuals. It has many different genetic etiologies and therefore diagnosis can be...
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Defining critical educational components of informed consent for genetic testing: views of US-based genetic counselors and medical geneticists
The Clinical Genome Resource (ClinGen) Consent and Disclosure Recommendation (CADRe) framework proposes that key components of informed consent for...
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Genetic testing for hereditary breast cancer in Poland: 1998–2022
BRCA1 and BRCA2 mutations contribute to both breast cancer and ovarian cancer worldwide. In Poland approximately 4% of patients with breast cancers...
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Psychosocial barriers and facilitators for cascade genetic testing in hereditary breast and ovarian cancer: a sco** review
Despite increased awareness and availability of genetic testing for hereditary breast and ovarian cancer (HBOC) syndrome for over 20 years, there is...
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Genetic testing in monogenic early-onset atrial fibrillation
A substantial proportion of atrial fibrillation (AF) cases cannot be explained by acquired AF risk factors. Limited guidelines exist that support...
