Comprehensive evaluation of a prospective Australian patient cohort with suspected genetic kidney disease undergoing clinical genomic testing: a study protocol
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 dise...
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BMJ Publishing Group
2019-08-01
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| Series: | BMJ Open |
| Online Access: | https://bmjopen.bmj.com/content/9/8/e029541.full |
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| author | Stephanie Best Melissa Martyn Chirag Patel Kushani Jayasinghe Zornitza Stark Amali Mallawaarachchi Hugh McCarthy Randall Faull Aron Chakera Madhivanan Sundaram Matthew Jose Peter Kerr You Wu Louise Wardrop Ilias Goranitis Catherine Quinlan Andrew J Mallett |
| author_facet | Stephanie Best Melissa Martyn Chirag Patel Kushani Jayasinghe Zornitza Stark Amali Mallawaarachchi Hugh McCarthy Randall Faull Aron Chakera Madhivanan Sundaram Matthew Jose Peter Kerr You Wu Louise Wardrop Ilias Goranitis Catherine Quinlan Andrew J Mallett |
| author_sort | Stephanie Best |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-7d3fcaa3f7b6416ab86d043da4423e6b |
| institution | OA Journals |
| issn | 2044-6055 |
| language | English |
| publishDate | 2019-08-01 |
| publisher | BMJ Publishing Group |
| record_format | Article |
| series | BMJ Open |
| spelling | doaj-art-7d3fcaa3f7b6416ab86d043da4423e6b2025-08-20T01:53:57ZengBMJ Publishing GroupBMJ Open2044-60552019-08-019810.1136/bmjopen-2019-029541Comprehensive evaluation of a prospective Australian patient cohort with suspected genetic kidney disease undergoing clinical genomic testing: a study protocolStephanie Best0Melissa Martyn1Chirag Patel2Kushani Jayasinghe3Zornitza Stark4Amali Mallawaarachchi5Hugh McCarthy6Randall Faull7Aron Chakera8Madhivanan Sundaram9Matthew Jose10Peter Kerr11You Wu12Louise Wardrop13Ilias Goranitis14Catherine Quinlan15Andrew J Mallett16Department of Health Services Research, Peter MacCallum Cancer Centre, Melbourne, Victoria, AustraliaMelbourne Genomics Health Alliance, Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, AustraliaBiomedical Informatics, Harvard Medical School, Boston, MA, USA1 Department of Nephrology, Monash Medical Centre, Melbourne, Victoria, AustraliaVictorian Clinical Genetics Services, Murdoch Childrens Research Institute, Parkville, Victoria, AustraliaMedical Genomics, Royal Prince Alfred Hospital, Sydney, Australia3 Australian Genomics Health Alliance, Melbourne, Victoria, Australia12 Royal Adelaide Hospital, Adelaide, South Australia, Australia3 Australian Genomics Health Alliance, Melbourne, Victoria, Australia3 Australian Genomics Health Alliance, Melbourne, Victoria, AustraliaHobart Clinical School, University of Tasmania School of Medicine, Hobart, Tasmania, AustraliaDepartment of Nephrology, Monash Medical Centre Clayton, Clayton, Victoria, Australia3 Australian Genomics Health Alliance, Melbourne, Victoria, Australia3 Australian Genomics Health Alliance, Melbourne, Victoria, AustraliaUniversity of Melbourne, Melbourne, Victoria, Australia4 Melbourne Genomics Health Alliance, Melbourne, Victoria, Australia3 Australian Genomics Health Alliance, Melbourne, Victoria, AustraliaIntroduction 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.https://bmjopen.bmj.com/content/9/8/e029541.full |
| spellingShingle | Stephanie Best Melissa Martyn Chirag Patel Kushani Jayasinghe Zornitza Stark Amali Mallawaarachchi Hugh McCarthy Randall Faull Aron Chakera Madhivanan Sundaram Matthew Jose Peter Kerr You Wu Louise Wardrop Ilias Goranitis Catherine Quinlan Andrew J Mallett Comprehensive evaluation of a prospective Australian patient cohort with suspected genetic kidney disease undergoing clinical genomic testing: a study protocol BMJ Open |
| title | Comprehensive evaluation of a prospective Australian patient cohort with suspected genetic kidney disease undergoing clinical genomic testing: a study protocol |
| title_full | Comprehensive evaluation of a prospective Australian patient cohort with suspected genetic kidney disease undergoing clinical genomic testing: a study protocol |
| title_fullStr | Comprehensive evaluation of a prospective Australian patient cohort with suspected genetic kidney disease undergoing clinical genomic testing: a study protocol |
| title_full_unstemmed | Comprehensive evaluation of a prospective Australian patient cohort with suspected genetic kidney disease undergoing clinical genomic testing: a study protocol |
| title_short | Comprehensive evaluation of a prospective Australian patient cohort with suspected genetic kidney disease undergoing clinical genomic testing: a study protocol |
| title_sort | comprehensive evaluation of a prospective australian patient cohort with suspected genetic kidney disease undergoing clinical genomic testing a study protocol |
| url | https://bmjopen.bmj.com/content/9/8/e029541.full |
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