Genetic Counseling and the RASopathies

Genetic counseling is the process of helping people understand and adapt to the medical, psychological, and familial implications of genetic contributions to disease. Factors that help with the adaptation to a new genetic diagnosis include providing emotional support, information about the condition, and connections with other parents at the time of the diagnosis and throughout the diagnostic odyssey. This can be challenging if the condition is ultra-rare, as is the case for several of the RASopathies. Individuals with RASopathies are at risk for a diverse range of medical and developmental complications throughout their lifetime; thus, genetic counseling and anticipatory guidance regarding the nuances of each condition are essential in order to optimize care, management, and adaptation to the diagnosis. This chapter will explore the factors that are important when providing genetic counseling for a RASopathy before the diagnosis is made, during the diagnosis disclosure, and after the diagnosis is confirmed. This includes considerations for choosing the appropriate test and laboratory, components of pretest counseling, and variant interpretation. Recommendations for providing psychosocial support, management guidelines, and resources will also be included, in addition to discussion regarding future pregnancies, recurrence risks, and reproductive options.