Genetic diagnoses result in direct changes in management for patients with a pathogenic or likely pathogenic variant
By Elana Gotkine HealthDay Reporter
MONDAY, Dec. 30, 2024 (HealthDay News) — For patients with neurodevelopmental disorders (NDDs), a genomics-informed model can provide clinical benefits, directly affecting management, according to a study published online Dec. 18 in Genetics in Medicine.
Aaron D. Besterman, M.D., from the University of California San Diego, and colleagues performed a retrospective study of 316 patients from a genomics-informed multidisciplinary, neuropsychiatric specialty clinic to examine the impact on diagnosis and management of patients with NDDs.
The researchers found that 41.8 percent of the 246 patients who underwent genetic testing had a pathogenic or likely pathogenic variant. Sixty-two different genetic diagnoses were identified: 12 diagnoses were shared by two or more patients and 50 diagnoses were in only single patients. In all patients with a pathogenic or likely pathogenic variant, genetic diagnoses resulted in direct changes to clinical management, including cascade testing, family counseling, medication changes, clinical trial referral, medical surveillance, and specialty referrals (30.6, 22.2, 13.9, 2.8, 30.6, and 69.4 percent, respectively).
“Genomics-informed education and care for NDDs should be inclusive and adaptable because the number of identifiable neurogenetic conditions continues to grow and precision treatments for many neurogenetic disorders are under development,” the authors write.
One author disclosed ties to Mirum Pharmaceuticals.
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