Genetic Counseling

Genetic counseling is the process of communicating relevant genetic information, including genetic risks, to patients and their families, so that they may understand the genetic information presented and use it to make informed decisions regarding genetic testing or other therapeutic decisions. The process also helps individuals to adapt to the medical, psychological and familial implications of genetic contributions to disease.29 The majority of genetic counseling is performed by board-certified Master's level genetic counselors or by board-certified medical geneticists. Genetic counseling for the cardiomyopathies is best undertaken by genetic counselors, geneticists who are knowledgeable of the cardiovascular clinical features of the type of cardiomyopathy in question, or cardiologists who are expert in the cardiomyopathy in question and are fluent in the content and nature of genetic counseling for the patient and their family members.13,18,30 Alliances of cardiologists with special interest and expertise in genetic cardiomyopathies with genetics professionals, usually Master's level trained genetic counselors or nurses trained in genetics, are beginning to emerge. In a survey of Dutch cardiologists and geneticists regarding the provision of care for HCM, most cardiologists preferred that pedigree construction, counseling and genetic testing be handled by geneticists, although a significant trend for collaborative arrangements between geneticists and cardiologists was also noted.31

Regardless of who provides it, genetic counseling is an essential component of the evaluation, diagnosis, and management of the cardiomyopathies.13,18,30 Essential activities completed by a genetic counselor are obtaining a careful and comprehensive 3- to 4-generation family history; educating the patient and family regarding disease transmission and family risks; counseling regarding any genetic testing to be undertaken including the implications of positive, negative, or uncertain results; providing key information to other at-risk family members as identified by the index patient; and assisting with the interpretation of genetic test results and their integration into the overall treatment plan. Counseling is designed to promote informed choices and adaptation to the risk or condition by providing medical facts and options and social implications.

The first essential activity, obtaining a comprehensive family history, has already been was addressed earlier. The next objective is to educate the patient and family regarding the disease transmission and family risks. If genetic testing has identified a plausible genetic cause, counseling regarding transmission is conducted (autosomal or X-linked, either dominant or recessive). The pedigree is commonly utilized to inform the patient and family of at-risk members. If the patient presents without prior genetic testing, but testing is indicated, counseling is undertaken regarding the utility, sensitivity, analytic validity, and the implications of all possible testing outcomes based on the prior items. The patient, family members, or both need to be counseled on the possibility of identifying genetic variants of unknown significance. Counseling also involves exploring the psychosocial issues that are relevant to the condition or risk that the individual is facing, as well as addressing family dynamics, which could potentially impact dissemination of genetic information to at-risk family members.