‘We just don’t know enough’: Genetic counseling only useful in certain rheumatic diseases
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AUSTIN, Texas — Research in genetics as it relates to rheumatologic diseases has a long way to go, but there are steps providers can take to translate current knowledge into actionable patient care, a presenter said.
“Something I want to hammer home today is that there is no single gene factor that causes disease development,” Shelby Brooks, MSN, APRN, CPNP-PC, a primary nurse practitioner of pediatric rheumatology at Texas Children’s Hospital, told attendees at the 2023 Rheumatology Nurses Society annual conference. “Rather, there are many types of genes that impact susceptibility to disease development, disease presentation and response to treatment — and again, we do not know a whole lot about genetics yet.”
According to Brooks, conversations about genetics — at least in rheumatology — are more productive when rheumatic conditions are separated into two groups. Monogenic conditions are caused by genetic mutations, while polygenic conditions relate to a patient’s vulnerability to a disease and environmental factors.
“In rheumatology, many of our autoinflammatory conditions are monogenic,” Brooks said. “And then there are polygenic conditions, which are also called ‘genetically complex,’ sometimes, and unfortunately this is where most of our conditions are.”
Some diseases that fit into the monogenic category are familial Mediterranean fever, TNF receptor-associated period syndrome, monogenic lupus and NLRP-3 associated autoinflammatory disease. Meanwhile, polygenic diseases include familial juvenile idiopathic arthritis, most instances of lupus and HLA-B27-linked diseases.
Translating that information into actionable patient care requires patient surveillance as well as careful instruction to guardians of young patients with HLA-B27 diseases, according to Brooks.
“We want to monitor our patients for other HLA-B27 disorders,” she said. “If your patient has juvenile psoriatic arthritis, they are also more likely to have inflammatory bowel disease, reactive arthritis and ankylosing spondylitis, and for those to overlap.”
Parents should keep a close eye on siblings of young patients with these conditions, Brooks added.
Although genetic counseling can be helpful for searching for specific diseases, is should not be considered a panacea. According to Brooks, it can take up to 3 years to get an appointment with a genetic counselor. To ease this burden, Brooks said she typically only refers patients for genetic counseling if they are suspected of having a monogenic condition.
“I typically reserve the referral for my monogenic patients that I know the genetic counselor can counsel on,” she said. “I have not yet sent any of my other patients with family histories, because they are polygenic and I have talked to a few genetic counselors, and they have told me there isn’t much they can say. We just don’t know enough yet.”
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Brooks S. Family affairs: The genetics and dynamics of rheumatology patients. Presented at: Rheumatology Nurses Society annual conference; August 2-5, 2023 (hybrid meeting).
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