Competency: 2

Details

Select the correct genetic test(s) for the patient samples referred for adult conditions using the following exemplars:

• Breast cancer
• Lynch syndrome
• Familial adenomatous polyposis (FAP)

Considerations

• The principal referral reasons that would indicate testing for each of the conditions under investigation.
• The clinical and scientific basis for the repertoire of genetic testing available to investigate the common range of clinical referrals.
• Ethical issues associated with patient consent including predictive testing.
• How to recognise this type of genetic testing in relation to other clinical referrals and laboratory testing.
• The range of genetic alterations/genes responsible and the tests suitable for patients presenting with cancer.
• The need for pre and post-test counselling for individuals with a family history of cancer.
• Application of appropriate methodologies that can be used to identify different classes of mutation.
• The application of pre-screening tests to select patients who require full mutation analysis, e.g. MSI and IHC in colorectal cancer.
• The utility of Next Generation Sequencing for this group of patients.

Relevant learning outcomes