BACKGROUND: Inherited retinal diseases (IRDs) are the leading cause of blindness in young people in the UK. Despite significant improvements in genomics medicine, the diagnosis of these conditions remains challenging, and around 40% do not receive a ...
In the area of cancer predisposition, certain situations may lead to the discussion of prophylactic surgery. This is rarely strictly recommended and depends on the patient's choice. The advantages and disadvantages must be weighed up. The main advant...
Reproduction, fertility, and development
Jan 1, 2025
Pre-implantation genetic testing for aneuploidy (PGT-A) via embryo biopsy helps in embryo selection by assessing embryo ploidy. However, clinical practice needs to consider the invasive nature of embryo biopsy, potential mosaicism, and inaccurate rep...
The rising cost of private health insurance and constraints within public health systems are global concerns. Genetic testing presents a transformative opportunity for health care to enhance health outcomes and optimise resource allocation through pe...
IMPORTANCE: Less than 10% of patients with cancer have detectable pathogenic germline alterations, which may be partially due to incomplete pathogenic variant detection.
PURPOSE: SEER registries do not report results of epidermal growth factor receptor () and anaplastic lymphoma kinase () mutation tests. To facilitate population-based research in molecularly defined subgroups of non-small-cell lung cancer (NSCLC), we...
BRCA Gist is an Intelligent Tutoring System that helps women understand issues related to genetic testing and breast cancer risk. In two laboratory experiments and a field experiment with community and web-based samples, an avatar asked 120 participa...
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