According to an article published in Healio, genetic counseling may not be beneficial for patients with certain rheumatic diseases. In a presentation at the 2023 RNS annual conference, Shelby Brooks, MSN, APRN, CPNP-PC, a primary nurse practitioner of pediatric rheumatology at Texas Children’s Hospital, explained that while genetic counseling may be helpful for searching for specific rheumatic diseases, there is currently no known single genetic factor that causes disease development. Further, she explained that there are many types of genes that impact susceptibility to rheumatic diseases, their development, disease presentation, and response to treatment, and that it may be more productive to separate rheumatic conditions into two groups—monogenic and polygenic—to establish an efficient treatment strategy. Monogenic conditions are developed due to genetic mutations; some diseases that fit into the monogenic category are familial Mediterranean fever, tumor necrosis factor receptor–associated periodic syndrome, monogenic lupus, and NLRP3-associated autoinflammatory disease. Polygenic diseases, considered “genetically complex,” relate to environmental factors and an individual’s risk for a certain disease, include familial juvenile idiopathic arthritis, lupus, and HLA-B27–linked diseases. “In rheumatology, many of our autoinflammatory conditions are monogenic…. I typically reserve the referral for my monogenic patients that I know the genetic counselor can counsel on,” concluded Dr. Brooks.
August 10, 2023