Show Notes
Join us on this episode of The Sediment to discuss the 2024 Pediatric Academic Societies, American Society of Pediatric Nephrology (ASPN) conference sessions on genetic testing, social determinants of health in kidney disease, and sickle cell disease with their respective moderators. We also honor this year's ASPN awardees Pat Brophy, David Hains, Sarah Swartz and Kim Reidy.
Mathieu Lemaire's Genetic Testing 'Survival Tips' 1) If phenotype is clear, narrower testing is preferable to ↓ risk of incidental findings 2) Screen for extra-renal abnormalities to crystalize the diagnosis - imaging, hearing test, opthalmo exam, ... 3) For pediatric-onset disease, have a low threshold to test early 4) If testing was done >5 years before, reassess results - If negative, re-do the test (vintage issue) - If positive with VUS, reanalyze variant for ↑ or ↓ 5) If broad test is negative (e.g. exome), no need to order a narrower panel 6) Be ready to discuss the implications of local laws (or lackthereof) regarding genetic discrimination 7) Discuss with family pros/cons of genetic testing early 8) Consider referral for gene discovery if nega3ve tes3ng but high probability of a genetic etiology (e.g., consanguinity) 9) Consider writing a case report on patients with VUS that is likely pathogenic 10) When in doubt, consult kidney genetic expert or genetic counsellor
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