Genetics and Genetic Counseling in Perinatal Palliative Care

When a life-limiting diagnosis is made during pregnancy, a multidisciplinary approach can enrich the information and support a family receives. Genetic counselors are key members of the multidisciplinary team, helping families through education and support. The role of the genetic counselor is to educate, empower, and support the needs of the patient, with particular emphasis on the potential genetic nature of the condition and the psychosocial issues that may arise. These goals overlap and complement those of the perinatal palliative care (PPC) model and support collaboration among genetic counselors and other members of the PPC multidisciplinary team. Through this interaction, genetic counselors learn of a patient’s goals and values, collect family and pregnancy history information, perform a genetic risk assessment, provide information about possible genetic conditions and their implications, communicate genetic testing options, facilitate testing and management decisions, and provide counseling and follow-up as needed, including referral to additional providers. The provision of medical information is balanced with psychosocial support in order to promote patient self-esteem, resilience, and autonomy. A thorough understanding of the complexities of the technology and psychosocial issues surrounding genetic testing is an essential component to genetic counseling, as genetic screening and diagnostic testing options continue to rapidly advance in their precision and breadth.