Precision Medicine Diagnostics for Rare Kidney Disease: Twitter as a Tool in Clinical Genomic Translation
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 ca...
| Main Authors: | , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2019-09-01
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| Series: | Kidney Medicine |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2590059519300792 |
| _version_ | 1811197254541770752 |
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| author | Andrew J. Mallett Catherine Quinlan Chirag Patel Lindsay Fowles Joanna Crawford Michael Gattas Richard Baer Bruce Bennetts Gladys Ho Katherine Holman Cas Simons |
| author_facet | Andrew J. Mallett Catherine Quinlan Chirag Patel Lindsay Fowles Joanna Crawford Michael Gattas Richard Baer Bruce Bennetts Gladys Ho Katherine Holman Cas Simons |
| author_sort | Andrew J. Mallett |
| collection | DOAJ |
| description | 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. Index Words: Twitter, Genetic Kidney Disease, Genomics |
| first_indexed | 2024-04-12T01:12:13Z |
| format | Article |
| id | doaj.art-9721b490c0934ac3b2fb2b35d8b71f77 |
| institution | Directory Open Access Journal |
| issn | 2590-0595 |
| language | English |
| last_indexed | 2024-04-12T01:12:13Z |
| publishDate | 2019-09-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Kidney Medicine |
| spelling | doaj.art-9721b490c0934ac3b2fb2b35d8b71f772022-12-22T03:54:04ZengElsevierKidney Medicine2590-05952019-09-0115315318Precision Medicine Diagnostics for Rare Kidney Disease: Twitter as a Tool in Clinical Genomic TranslationAndrew J. Mallett0Catherine Quinlan1Chirag Patel2Lindsay Fowles3Joanna Crawford4Michael Gattas5Richard Baer6Bruce Bennetts7Gladys Ho8Katherine Holman9Cas Simons10Department of Renal Medicine, Royal Brisbane and Women’s Hospital, Herston, QLD, Australia; KidGen Collaborative, Australian Genomics Health Alliance, Parkville, VIC, Australia; Institute for Molecular Bioscience, The University of Queensland, St Lucia, QLD, Australia; Murdoch Children's Research Institute, The Royal Children's Hospital Melbourne, Parkville, Melbourne, VIC, Australia; Faculty of Medicine, The University of Queensland, Herston, QLD, Australia; Address for Correspondence: Andrew J. Mallett, PhD, Department of Renal Medicine, Level 9 Ned Hanlon Building, Royal Brisbane and Women’s Hospital, Butterfield Street, Herston, Queensland 4029, Australia.KidGen Collaborative, Australian Genomics Health Alliance, Parkville, VIC, Australia; Murdoch Children's Research Institute, The Royal Children's Hospital Melbourne, Parkville, Melbourne, VIC, Australia; Department of Paediatric Nephrology, Royal Children’s Hospital, Parkville, VIC, Australia; Department of Paediatrics, University of Melbourne, VIC, AustraliaKidGen Collaborative, Australian Genomics Health Alliance, Parkville, VIC, Australia; Genetic Health Queensland, Royal Brisbane and Women’s Hospital, Herston, QLD, AustraliaKidGen Collaborative, Australian Genomics Health Alliance, Parkville, VIC, Australia; Genetic Health Queensland, Royal Brisbane and Women’s Hospital, Herston, QLD, AustraliaKidGen Collaborative, Australian Genomics Health Alliance, Parkville, VIC, Australia; Institute for Molecular Bioscience, The University of Queensland, St Lucia, QLD, AustraliaGenetic Health Queensland, Royal Brisbane and Women’s Hospital, Herston, QLD, AustraliaDepartment of Nephrology, Mater Public Hospital, South Brisbane, QLD, AustraliaKidGen Collaborative, Australian Genomics Health Alliance, Parkville, VIC, Australia; Department of Molecular Genetics, Children’s Hospital at Westmead, Westmead, NSW, Australia; Discipline of Genetic Medicine and Discipline of Child & Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Sydney, NSW, AustraliaKidGen Collaborative, Australian Genomics Health Alliance, Parkville, VIC, Australia; Department of Molecular Genetics, Children’s Hospital at Westmead, Westmead, NSW, Australia; Discipline of Genetic Medicine and Discipline of Child & Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Sydney, NSW, AustraliaKidGen Collaborative, Australian Genomics Health Alliance, Parkville, VIC, Australia; Department of Molecular Genetics, Children’s Hospital at Westmead, Westmead, NSW, Australia; Discipline of Genetic Medicine and Discipline of Child & Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Sydney, NSW, AustraliaKidGen Collaborative, Australian Genomics Health Alliance, Parkville, VIC, Australia; Institute for Molecular Bioscience, The University of Queensland, St Lucia, QLD, Australia; Murdoch Children's Research Institute, The Royal Children's Hospital Melbourne, Parkville, Melbourne, VIC, AustraliaNew 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. Index Words: Twitter, Genetic Kidney Disease, Genomicshttp://www.sciencedirect.com/science/article/pii/S2590059519300792 |
| spellingShingle | Andrew J. Mallett Catherine Quinlan Chirag Patel Lindsay Fowles Joanna Crawford Michael Gattas Richard Baer Bruce Bennetts Gladys Ho Katherine Holman Cas Simons Precision Medicine Diagnostics for Rare Kidney Disease: Twitter as a Tool in Clinical Genomic Translation Kidney Medicine |
| title | Precision Medicine Diagnostics for Rare Kidney Disease: Twitter as a Tool in Clinical Genomic Translation |
| title_full | Precision Medicine Diagnostics for Rare Kidney Disease: Twitter as a Tool in Clinical Genomic Translation |
| title_fullStr | Precision Medicine Diagnostics for Rare Kidney Disease: Twitter as a Tool in Clinical Genomic Translation |
| title_full_unstemmed | Precision Medicine Diagnostics for Rare Kidney Disease: Twitter as a Tool in Clinical Genomic Translation |
| title_short | Precision Medicine Diagnostics for Rare Kidney Disease: Twitter as a Tool in Clinical Genomic Translation |
| title_sort | precision medicine diagnostics for rare kidney disease twitter as a tool in clinical genomic translation |
| url | http://www.sciencedirect.com/science/article/pii/S2590059519300792 |
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