Precision medicine diagnostics for rare kidney disease: Twitter as a tool in clinical genomic translation

Mallett, Andrew J., Quinlan, Catherine, Patel, Chirag, Fowles, Lindsay, Crawford, Joanna, Gattas, Michael, Baer, Richard, Bennetts, Bruce, Ho, Gladys, Holman, Katherine, and Simons, Cas (2019) Precision medicine diagnostics for rare kidney disease: Twitter as a tool in clinical genomic translation. Kidney Medicine, 1 (5). pp. 315-318.

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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 involved biallelic variants in CLDN10 relating to autosomal recessive hypokalemic renal tubular phenotypes. The times from Twitter notification to clinical diagnostic genetic report for these families were 111 and 200 days, respectively. Although caution is required, these cases show that social media platforms can contribute to rapid and accessible academic communication that may benefit clinicians, genomics-based researchers, and patients and families affected by rare kidney diseases.

Item ID: 67867
Item Type: Article (Case Study)
ISSN: 2590-0595
Keywords: Twitter, Genetic Kidney Disease, Genomics
Copyright Information: © 2019 The Authors. Published by Elsevier Inc. on behalf of the National Kidney Foundation, Inc. This is an open access articleunder the CC BY-NC-ND license (
Date Deposited: 20 Sep 2021 22:35
FoR Codes: 32 BIOMEDICAL AND CLINICAL SCIENCES > 3202 Clinical sciences > 320213 Medical genetics (excl. cancer genetics) @ 70%
32 BIOMEDICAL AND CLINICAL SCIENCES > 3202 Clinical sciences > 320214 Nephrology and urology @ 30%
SEO Codes: 20 HEALTH > 2001 Clinical health > 200105 Treatment of human diseases and conditions @ 100%
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