Genetic testing informs real-world kidney care decisions
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Key takeaways:
- Among patients referred to a glomerular kidney disease center for genetic evaluation, 35% received a positive diagnosis.
- Most tests were multi-gene, next-generation sequencing panels.
SAN DIEGO — Genetic evaluation of patients referred to a U.S. glomerular disease center revealed a genetic diagnosis in 35% of cases, informing prognosis and treatment and allowing for family testing, among other benefits.
“Multidisciplinary care integrating genetic evaluation of a glomerular disease referral population provided important benefits for the patients and their families,” Miquel Blasco Pelicano, MD, PhD, a visiting associate research scientist at Columbia University, told Healio. “It is recommended to integrate this approach more broadly, to make progress toward the goal of precision medicine in glomerular disease care.”
Blasco Pelicano and colleagues analyzed data from 231 adults with glomerular disease (142 confirmed by biopsy) referred for genetic evaluation at Columbia University from July 2020 to November 2023. Mean age of patients was 43.5 years, 54% were women and 37% identified as white.
Patients met with a genetics counselor and a nephrologist, sometimes virtually, who ordered tests based on individual patient considerations. Collagenopathies were suspected in 47% of referrals, hereditary focal segmental glomerulosclerosis in 25% and complement dysregulation in 8%. Of tests ordered, 71% were multi-gene, next-generation sequencing panels. In 35% of cases, patients received a positive diagnosis, and 8% of cases had APOL1 risk alleles.
“Our research points to future directions such as the development of prospective studies to confirm the individual and family benefits of this approach, including potential psychosocial impacts. This also highlights the importance of early patient referral to centers of excellence, reducing the time between the diagnosis of kidney disease and the identification of its genetic cause, providing clinical and, potentially, economic benefits,” the researchers wrote in their poster.
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Blasco Pelicano M, et al. TH-PO528. Presented at: ASN Kidney Week; Oct. 24-27, 2024; San Diego.
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