Genetic testing is increasingly utilized in the diagnosis of neurodegenerative disorders. This is particularly relevant as the field moves towards neurogenetic intervention. Determining who should be genetically tested, which tests should be performed, which labs are most appropriate and how to secure insurance coverage for patients with neurological conditions remains a challenge. Reviewing the complexity of testing options and potential impact of the results on patients and family members is also time-consuming and can be a barrier to care when physicians are required to fill this role unassisted by clinical professionals with targeted genetic expertise.  Genetic counselors are healthcare professionals with specialized training in medical genetics and psychosocial counseling who can solve this challenge in clinical care.

Here we describe the role and impact of genetic counselor in the Massachusetts General Hospital Ataxia Center as a case in point.

The genetic counselor’s primarily roles are in pretest and posttest counseling. Pretest counseling includes comprehensive genetic evaluations and determining appropriate genetic testing pathways for individuals with suspected hereditary ataxic disorders. They review test benefits, limitations, and risks, impacts on patients and family members, and facilitate prior authorizations for insurance approval and test orders. Posttest counseling involves disclosure of sensitive results in the context of the patient’s medical and family history, and incudes psychosocial support. Follow up includes connecting patients to resources and support groups, arranging family segregation studies in case of uncertain results, and cascade testing for at risk relatives.

The genetic counselor’s knowledge and counseling skills help improve patient care, optimize physician time, focus the testing strategy, and reduce costs. Genetic counselors are integral members of the multidisciplinary neurology team in the era of genomic medicine.