The Option of Genetic Testing
Genetic counseling and testing in vulnerable populations raises special considerations. The aim of genetic counseling is to help people understand and adapt to the medical, psychological, and familial implications of genetic contributions to disease, which in part involves the meaningful exchange of factual information. In a vulnerable population, health care providers need to be sensitive to factors that can impact the ability of the individual to comprehend the information. In particular in circumstances of cognitive impairment or intellectual disability, special attention is paid to whether the individual's legally authorized representative should be involved in the counseling, informed consent, and testing process.
Providers need to assess all patients for their ability to make an uncoerced, autonomous informed decision prior to proceeding with genetic testing. Populations that do not seem vulnerable, for example, legally adult college students, may actually be deemed vulnerable because of undue coercion for testing by their parents, or the threat of withholding financial support by their parents based on a testing decision inconsistent with the parent's wishes. Alteration of the genetic counseling and testing process may be necessary depending on the situation, such as counseling and testing in terminally ill individuals who opt for testing for the benefit of their children but given their impending death, results may have no impact on their own health care nor may results be available before their death. In summary, genetic counseling and testing requires that the health care provider assess all individuals for any evidence of vulnerability, and if present, be sensitive to those issues, modify genetic counseling based on the specific circumstances, and avoid causing additional harm.
Importance of Pretest Counseling
The complexity of genetic testing for cancer susceptibility has led experts to suggest that careful, in-depth counseling should precede any decision about the use of testing in keeping with the accepted principles for the use of genetic testing. For example, New York State guidelines specify that "When an increased risk for hereditary susceptibility is identified through the individual or family history, the clinician should initiate discussion or refer the patient for information concerning genetic testing and its potential benefits and burdens. The clinician who opts to take on this responsibility must provide the depth of content and time required to ensure that the patient can make an informed testing choice."
Qualitative and quantitative research studies indicate that families hold a variety of beliefs about the inheritance of characteristics within families; some of these beliefs are congruent with current scientific understanding whereas others are not.[58,59,60] These beliefs may be influenced by education, personal and family experiences, and cultural background. Because behavior is likely to be influenced by these beliefs, the usefulness of genetic information may depend on recognizing and addressing the individual's pre-existing cognitions. This process begins with initial discussion and continues throughout the genetic counseling process.