Principles of Genetic Counseling

Overview

Genetic counseling is a process of evaluating family history and medical information to advise patients of the risk of a genetic condition. This can have both a diagnostic and supportive element. The National Society of Genetic Counselors officially defines genetic counseling as, “the process of helping people understand and adapt to the medical, psychological and familial implications of genetic contributions to disease. This process integrates the following: 1) interpretation of family and medical histories to assess the chance of disease occurrence or recurrence; 2) education about inheritance, testing, management, prevention resources and research; and 3) counseling to promote informed choices and adaptation to the risk or condition.” Genetic counseling should include a discussion of available genetic screening and testing and informed consent with limitations, risks, and benefits associated with a genetic test. The patient should be made aware of the risk to develop disease and should be educated on the natural history of the condition and impact on the patient and at-risk family members, as well as potential interventions, research, and treatment.

Rapidly advancing genetic technology and decreased cost of genetic testing has led to increased patient demands and expectations. Although new genetic technologies afford increased information, the issues of genetic heterogeneity, such as variable penetrance and expressivity, variants of uncertain significance, and uncertain phenotype and unanticipated information, highlight the need and value of genetic counseling. The current climate of advanced prenatal genetic technologies to screen and diagnose genetic abnormalities in the fetus is also rapidly evolving. The complexity of genetic information available before birth has increased such that obstetric providers are challenged to have the time and expertise to discuss genetic testing options with patients. The obstetric provider should apply professional judgment to the specific clinical circumstance presented by the patient when determining whether the patient would benefit from consultation with a genetic specialist. Indications for genetic counseling in the obstetric patient include the following :

• A known or suspected genetic diagnosis in the patient or family member

• Suspected fetal anomaly

• Abnormal or unanticipated result from a screening test

• Abnormal or unanticipated result from a diagnostic test

• Advanced parental age during pregnancy

• Teratogenic exposure

• Patient’s reported ethnicity associated with an increased prevalence of a genetic diagnosis

• Recurrent pregnancy loss

• Consanguinity

• Any patient who wishes detailed information about carrier and/or aneuploidy testing beyond what the obstetric provider can deliver

Advances in genetic and genomic technologies offer new opportunities in prenatal testing and may empower families with knowledge about reproductive risk and support reproductive autonomy. These testing strategies, however, must be implemented in an ethically responsible manner and studied to determine best practice. Providing nondirective, comprehensive genetic counseling to obstetric patients is a critical component of this goal.

What Is the Role of a Genetic Counselor?

Genetic counselors are medical professionals with specialized graduate degrees in medical genetics, genomics, and counseling. In the clinical setting, a genetic counselor works to integrate genetic technologies into clinical practice, providing comprehensive genetic services to patients. Genetic counselors often are members of a healthcare team, but their training and expertise allow independent interaction with patients. The role of a genetic counselor includes the collection and evaluation of a medical and family history, providing guidance to the healthcare team on available genetic screening and testing, educating the patient about complex genetic principles, discussing benefits and limitations of genetic screening and testing in the process of informed consent, coordinating sample collection, promoting communication among medical professionals, interpreting and communicating genetic test results to the medical team and to the patient, advocating for patient needs as a result of a genetic diagnosis, and presenting risk-reduction strategies, management, or treatment options based on a genetic diagnosis. Providing these services, and others, allows the physician or allied health professional to be more efficient, enhance patient knowledge and satisfaction, as well as decrease liability and cost given their knowledge and role in the provision of care. Beyond direct clinical care, genetic counselors may work in a laboratory, have a role in genetic research, government, and legal affairs, or work for industry.

The American Board of Genetic Counseling (ABGC), through an examination process, certifies genetic counselors. In several states, a license is required to practice as a Certified Genetic Counselor (CGC) with the goal of ensuring competency. Licensure also allows genetic counselors to work in a more independent fashion. It also provides the credentials that many hospitals need to approve billing and reimbursement for these services and affords flexibility in the delivery of services.