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Hereditary cancer syndromes underlie 5 to 10% of all cancers and there are over 50 identifiable hereditary forms of cancer. [5] Scientific understanding of cancer susceptibility syndromes is actively expanding: additional syndromes are being found, [6] the underlying biology is becoming clearer, and genetic testing is improving detection, treatment, and prevention of cancer syndromes. [7]
In 2018, Quest Diagnostics was among a number of US based labs linked to inaccuracies of over 200 women's cervical smear tests for CervicalCheck, Ireland's national screening program. [ 53 ] [ 54 ] Audits of the testing performed by Quest (and another subcontractor Clinical Pathology Laboratories, Inc. of Austin Texas) showed a high rate of ...
Point-of-care genetic testing identifies variations in the genetic sequence at the bedside – enabling clinicians to react and alter therapy based upon the results. [ 1 ] Traditional genetic testing involves the analysis of DNA in order to detect genotypes related to a heritable disease or phenotype of interest for clinical purposes.
Molecular diagnostics tool can be used for cancer risk assessment. For example, the BRCA1/2 test by Myriad Genetics assesses women for lifetime risk of breast cancer. [22] Also, some cancers are not always employed with clear symptoms. It is useful to analyze people when they do not show obvious symptoms and thus can detect cancer at early stages.
This is often referred to as multigene panel testing because testing simultaneously examines a number of different genes. For example, an individual may have panel testing for a group of genes known to be associated with a particular type of cancer such hereditary colon cancer or hereditary breast and ovarian cancer. [34]
Genetic testing is often done as part of a genetic consultation and as of mid-2008 there were more than 1,200 clinically applicable genetic tests available. [23] Once a person decides to proceed with genetic testing, a medical geneticist, genetic counselor, primary care doctor, or specialist can order the test after obtaining informed consent .
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