Genetic Testing

Abstract

New research developments in the molecular genetics of cancer have led to the feasibility of cancer genetic testing. At present, genetic test results can better inform individuals at risk about appropriately tailored strategies for cancer screening and prevention. In the future, more persons will be eligible for genetic evaluation; in particular, if it is shown that patients with cancer who are carriers of germline mutations respond differently to treatments, genetic testing may be warranted. Consideration needs to be given to the appropriate delivery of genetic risk assessment and testing. There is a great potential for misinterpretation of gene test results and for adverse psychosocial consequences for patients. Genetic counseling is an important component in cancer risk assessment and management, particularly in helping persons at risk understand the implications of gene test results in the context of their experience with cancer and surveillance.

Effect of a Computer-Based Decision Aid on Knowledge, Perceptions, and Intentions About Genetic Testing for Breast Cancer Susceptibility

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N RECENT YEARS, GENETIC TESTING for inherited cancer predisposition has become widely available. [1][2][3] Initially, the use of such testing was limited to those enrolled in research studies at specialized medical centers. However, developments in testing technology and widespread publicity in the news media have led to increased testing for conditions such as breast cancer susceptibility 4,5 in primary care [6][7][8] and other settings, raising questions about how to adequately inform patients about their personal breast cancer risk and the pros and cons of genetic testing.

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Use of an educational computer program before genetic counseling for breast cancer susceptibility: Effects on duration and content of counseling sessions

“…1 Molecular tests now permit evaluation of a person's genetic susceptibility to various cancers, and as more conditions are identified for which genetic testing can be performed, [2][3][4] it is inevitable that genetic testing will be used more frequently to make predictive, diagnostic, and risk management decisions. 5,6 In fact, genetic tests are now marketed directly to physicians and to the public, increasing the frequency of patients' requests for testing from their physicians.…”

Implementation of interventions targeting the uptake of genetic testing services for breast cancer risk: protocol for a systematic review

“…Those who already have breast cancer may be referred to genetic testing in order to determine disease aetiology, the risk for a second primary cancer and to inform treatment, as well as to clarify breast cancer risk for their children and/or siblings. 12 A recent review of international guidelines and recommendations for BRCA-related breast cancer genetic screening, diagnosis, counselling and treatment found agreement between guidelines in terms of key features, such as the main indicators of a 'high-risk family constellation' or a generally strong endorsement of counselling before and after testing. 9 However, there also were differences regarding specifications of individual clinical and family history risk criteria which might result in different levels of inclusivity.…”