Journal article

Precision Medicine Diagnostics for Rare Kidney Disease: Twitter as a Tool in Clinical Genomic Translation.

Andrew J Mallett, Catherine Quinlan, Chirag Patel, Lindsay Fowles, Joanna Crawford, Michael Gattas, Richard Baer, Bruce Bennetts, Gladys Ho, Katherine Holman, Cas Simons

Kidney Med | Published : 2019

Abstract

New technologies such as genomics present opportunities to deliver precision medicine, including in the diagnosis of rare kidney disorders. Simultaneously, social media platforms such as Twitter can provide rapid and wide-reaching information dissemination in health care and science. We present 2 cases in which the reporting of a novel genetic cause for human kidney disease was communicated through Twitter and then subsequently noted by treating clinicians, thereby resulting in rapid clinical diagnostic translation. In 1 family, this involved the reporting of heterozygous variants in GREB1L relating to autosomal dominant unilateral or bilateral renal agenesis, and in the other family, this i..

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