Electronic Resource
Comprehensive evaluation of a prospective Australian patient cohort with suspected genetic kidney disease undergoing clinical genomic testing: A study protocol.
| العنوان: | Comprehensive evaluation of a prospective Australian patient cohort with suspected genetic kidney disease undergoing clinical genomic testing: A study protocol. |
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| المؤلفون: | Best S., Jayasinghe K., Wardrop L., Goranitis I., Martyn M., Mallett A.J., Quinlan C., Stark Z., Patel C., Mallawaarachchi A., McCarthy H., Faull R., Chakera A., Sundaram M., Jose M., Kerr P., Wu Y. |
| بيانات النشر: | BMJ Publishing Group (E-mail: subscriptions@bmjgroup.com) United Kingdom 2019-08-16 |
| نوع الوثيقة: | Electronic Resource |
| مستخلص: | Introduction: Recent advances in genomic technology have allowed better delineation of renal conditions, the identification of new kidney disease genes and subsequent targets for therapy. To date, however, the utility of genomic testing in a clinically ascertained, prospectively recruited kidney disease cohort remains unknown. The aim of this study is to explore the clinical utility and cost-effectiveness of genomic testing within a national cohort of patients with suspected genetic kidney disease who attend multidisciplinary renal genetics clinics. Methods and analysis: This is a prospective observational cohort study performed at 16 centres throughout Australia. Patients will be included if they are referred to one of the multidisciplinary renal genetics clinics and are deemed likely to have a genetic basis to their kidney disease by the multidisciplinary renal genetics team. The expected cohort consists of 360 adult and paediatric patients recruited by December 2018 with ongoing validation cohort of 140 patients who will be recruited until June 2020. The primary outcome will be the proportion of patients who receive a molecular diagnosis via genomic testing (diagnostic rate) compared with usual care. Secondary outcomes will include change in clinical diagnosis following genomic testing, change in clinical management following genomic testing and the cost-effectiveness of genomic testing compared with usual care. Ethics and dissemination: The project has received ethics approval from the Melbourne Health Human Research Ethics Committee as part of the Australian Genomics Health Alliance protocol: HREC/16/MH/251. All participants will provide written informed consent for data collection and to undergo clinically relevant genetic/genomic testing. The results of this study will be published in peer-reviewed journals and will also be presented at national and international conferences.Copyright © 2019 Author(s). |
| مصطلحات الفهرس: | family history, family planning, follow up, genetic counseling, genetic disorder/di [Diagnosis], genetic disorder/dm [Disease Management], genetic screening, genomics, health care delivery, hematuria, cost effectiveness analysis, human, hypertension, kidney biopsy, kidney disease/di [Diagnosis], kidney disease/dm [Disease Management], medical ethics, molecular diagnosis, multidisciplinary team, observational study, patient preference, patient-reported outcome, Pediatric Quality of Life Inventory, phenotype, private health insurance, prospective study, proteinuria, hope, diagnostic value, economic evaluation, expectation, Willingness To Pay, article, Australian, clinical article, clinical evaluation, clinical outcome, cohort analysis, comorbidity, copy number variation, cost benefit analysis, Sanger sequencing, Short Form 12, ultrasound, whole genome sequencing, Article |
| URL: | BMJ Open LibKey Link |
| الاتاحة: | Open access content. Open access content Copyright 2019 Elsevier B.V., All rights reserved. |
| Other Numbers: | AUSHL oai:repository.monashhealth.org:1/35607 BMJ Open. 9 (8) (no pagination), 2019. Article Number: e029541. Date of Publication: 01 Aug 2019. 2044-6055 (electronic) https://repository.monashhealth.org/monashhealthjspui/handle/1/35607 31383705 [http://www.ncbi.nlm.nih.gov/pubmed/?term=31383705] 628811257 (Jayasinghe, Kerr) Department of Nephrology, Monash Medical Centre, Melbourne, VIC, Australia (Jayasinghe, Kerr) Monash University, Melbourne, VIC, Australia (Jayasinghe, Stark, Patel, Mallawaarachchi, McCarthy, Faull, Chakera, Sundaram, Jose, Wu, Wardrop, Goranitis, Best, Quinlan, Mallett) Australian Genomics Health Alliance, Melbourne, VIC, Australia (Jayasinghe, Kerr, Wardrop, Martyn, Quinlan) Melbourne Genomics Health Alliance, Melbourne, VIC, Australia (Jayasinghe, Stark, Wu, Wardrop, Goranitis, Best, Martyn, Quinlan, Mallett) Murdoch Children's Research Institute, Melbourne, VIC, Australia (Stark, Martyn, Quinlan) Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia (Patel) Genetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, QLD, Australia (Mallawaarachchi) Department of Medical genomics, Royal Prince Alfred Hospital, Sydney, NSW, Australia (Mallawaarachchi) Garvan Institute of Medical Research, Sydney, NSW, Australia (McCarthy) Sydney Children's Hospitals Network, Sydney, NSW, Australia (McCarthy) Children's Hospital Westmead Clinical School, University of Sydney, Sydney, NSW, Australia (Faull) Royal Adelaide Hospital, Adelaide, SA, Australia (Chakera) Sir Charles Gairdner Hospital, Perth, WA, Australia (Sundaram) Royal Darwin Hospital, Darwin, NT, Australia (Jose) School of Medicine, University of Tasmania, Hobart, TAS, Australia (Jose) Royal Hobart Hospital, Hobart, TAS, Australia (Wu, Goranitis) Health Economics Unit, Centre for Health Policy, University of Melbourne, Melbourne, VIC, Australia (Best) Centre for Healthcare Resilience and Implementation Science, Australian Institute of Health Innovation, Macquarie University, Sydney, NSW, Australia (Quinlan) Department of Paediatric Nephrology, Royal Children's Hospital, Melbourne, VIC, Australia (Mallett) Kidney Health Service, Conjoint Renal Research Laboratory, Royal Brisbane and Women's Hospital, Brisbane, QLD, Australia (Mallett) Institute for Molecular Bio Mallett A.J.; Andrew.Mallett@health.qld.gov.au 1305110929 |
| المصدر المساهم: | MONASH HEALTH LIBRS From OAIster®, provided by the OCLC Cooperative. |
| رقم الانضمام: | edsoai.on1305110929 |
| قاعدة البيانات: | OAIster |
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