Chapter 20: Diagnostic investigations
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Legal and professional issues
Genetic tests for cancer predisposition genes should only be requested by health professionals with adequate training in genetic counselling and in interpreting genetic test results. Genetic testing is usually only carried out by clinical geneticists, genetic counsellors and genetic nurses. In some settings genetic tests are ordered by oncologists as part of a patient's diagnostic and treatment pathway, working in close collaboration with a cancer genetics unit.
Genetic competency standards for nurses
The Department of Health commissioned educational guidelines for nurses in 2003 (Kirk et al.), which were revised and updated in 2011 (Kirk et al. [82]) to establish the skills and knowledge nurses need to have about genetics to be able to benefit their patients. Seven competency standards were agreed as a part of this work (Box 20.3). It is important that nurses identify those who are at risk for or susceptible to genetic–genomic conditions as well as genomic technologies used in the diagnosis and management of diseases such as cancer (Kirk et al. [83]).
Box 20.3
Genetic testing skills for nurses, midwives and health visitors at registration
- Identify clients who might benefit from genetic services and information (Gaff [51]).
- Appreciate the importance of sensitivity in tailoring genetic information and services to clients’ culture, knowledge and language level (Middleton et al. [98]).
- Uphold the rights of all clients to informed decision making and voluntary action (Haydon [61]).
- Demonstrate a knowledge and understanding of the role of genetic and other factors in maintaining health and in the manifestation, modification and prevention of disease expression, to underpin effective practice (Kirk [80]).
- Demonstrate a knowledge and understanding of the utility and limitations of genetic testing and information (Bradley [14]).
- Recognize the limitations of one's own genetics expertise (Benjamin and Gamet [10]).
- Obtain and communicate credible, current information about genetics, for self, clients and colleagues (Skirton and Barnes [155]).
Consent and confidentiality
Clinical information regarding genetic test results and family histories of cancer is relevant to both the cancer patient and their unaffected relatives. There are nationally agreed guidelines for obtaining correct consent for verifying family histories of cancer and sharing genetic test results and for protecting the confidential information of the patient whilst allowing all at‐risk relatives to benefit from genetic risk assessments and test results (Royal College of Physicians, Royal College of Pathologists and British Society for Human Genetics [141]). Patients may express concerns about confidentiality. It is important to inform patients that genetic notes are kept separate from the main hospital notes so confidential genetic information about themselves and their relatives is only available to the genetics team (Skirton and Barnes [155]).
