Enhancing diagnostic outcomes in kidney genetic disorders: the KidGen national kidney genomics study protocol
Abstract Background Genetic kidney disease (GKD) significantly affects the community and is responsible for a notable portion of adult kidney disease cases and about half of cases in paediatric patients. It substantially impacts the quality of life and life expectancy for affected children and adult...
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BMC
2025-02-01
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| Series: | BMC Nephrology |
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| Online Access: | https://doi.org/10.1186/s12882-024-03926-y |
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| author | Amali Mallawaarachchi Hugh McCarthy Thomas A. Forbes Kushani Jayasinghe Chirag Patel Stephen I. Alexander Tiffany Boughtwood Jeffrey Braithwaite Aron Chakera Sam Crafter Ira W. Deveson Randall Faull Trudie Harris Lilian Johnstone Matthew Jose Anna Leaver Melissa H. Little Daniel MacArthur Tessa Mattiske Christine Mincham Kathy Nicholls Catherine Quinlan Michael C. J. Quinn Gopala Rangan Jessica Ryan Cas Simons Ian Smyth Madhivanan Sundaram Peter Trnka Laura Wedd Erik Biros Zornitza Stark Andrew Mallett |
| author_facet | Amali Mallawaarachchi Hugh McCarthy Thomas A. Forbes Kushani Jayasinghe Chirag Patel Stephen I. Alexander Tiffany Boughtwood Jeffrey Braithwaite Aron Chakera Sam Crafter Ira W. Deveson Randall Faull Trudie Harris Lilian Johnstone Matthew Jose Anna Leaver Melissa H. Little Daniel MacArthur Tessa Mattiske Christine Mincham Kathy Nicholls Catherine Quinlan Michael C. J. Quinn Gopala Rangan Jessica Ryan Cas Simons Ian Smyth Madhivanan Sundaram Peter Trnka Laura Wedd Erik Biros Zornitza Stark Andrew Mallett |
| author_sort | Amali Mallawaarachchi |
| collection | DOAJ |
| description | Abstract Background Genetic kidney disease (GKD) significantly affects the community and is responsible for a notable portion of adult kidney disease cases and about half of cases in paediatric patients. It substantially impacts the quality of life and life expectancy for affected children and adults across all stages of kidney disease. Precise genetic diagnosis in GKD promises to improve patient outcomes, provide access to targeted treatments, and reduce the disease burden for individuals, families, and healthcare systems. Genetic investigations are increasingly used in nephrology practice; however, many patients who undergo testing still lack a definitive diagnosis. Methods The KidGen National Kidney Genomics Study aims to increase diagnostic yield for those with suspected monogenic kidney disease without a diagnosis after standard diagnostic genetic testing. The program will seek to enrol up to 200 families from KidGen Collaborative kidney genetics clinics across Australia who have yet to receive conclusive diagnoses despite prior testing. Participants will undergo a personalised pathway of research genomic investigations. These include re-analysing existing data and/or undergoing advanced genomic testing methods, including short and long-read whole-genome sequencing, RNA sequencing, and functional genomics strategies using mouse modelling or kidney organoids. Discussion The KidGen National Kidney Genomics Study is a coordinated, multidisciplinary extension of previous research projects that aims to assess the diagnostic yield of advanced genomic approaches. The study's evidence will drive changes to current diagnostic pathways, including identifying which chronic kidney disease patients are most likely to benefit from a more comprehensive genomic approach to diagnosis. |
| format | Article |
| id | doaj-art-d9aae6f61a884c6a9fa7b1ba1866fd79 |
| institution | Kabale University |
| issn | 1471-2369 |
| language | English |
| publishDate | 2025-02-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Nephrology |
| spelling | doaj-art-d9aae6f61a884c6a9fa7b1ba1866fd792025-02-09T12:16:50ZengBMCBMC Nephrology1471-23692025-02-0126111110.1186/s12882-024-03926-yEnhancing diagnostic outcomes in kidney genetic disorders: the KidGen national kidney genomics study protocolAmali Mallawaarachchi0Hugh McCarthy1Thomas A. Forbes2Kushani Jayasinghe3Chirag Patel4Stephen I. Alexander5Tiffany Boughtwood6Jeffrey Braithwaite7Aron Chakera8Sam Crafter9Ira W. Deveson10Randall Faull11Trudie Harris12Lilian Johnstone13Matthew Jose14Anna Leaver15Melissa H. Little16Daniel MacArthur17Tessa Mattiske18Christine Mincham19Kathy Nicholls20Catherine Quinlan21Michael C. J. Quinn22Gopala Rangan23Jessica Ryan24Cas Simons25Ian Smyth26Madhivanan Sundaram27Peter Trnka28Laura Wedd29Erik Biros30Zornitza Stark31Andrew Mallett32The KidGen CollaborativeSchool of Medicine, Faculty of Medicine and Health, University of SydneyThe KidGen CollaborativeThe KidGen CollaborativeThe KidGen CollaborativeCentre for Kidney Research, The Children’s Hospital at WestmeadMurdoch Children’s Research InstituteCentre for Healthcare Resilience and Implementation Science, Australian Institute of Health Innovation, Macquarie UniversitySir Charles Gairdner HospitalWomen’s and Children’s HospitalGarvan Institute of Medical ResearchRoyal Adelaide HospitalMurdoch Children’s Research InstituteDepartment of Nephrology, Monash Children’s Hospital, Monash HealthRoyal Hobart HospitalAustin HospitalMurdoch Children’s Research InstituteCentre for Population Genomics, Murdoch Children’s Research InstituteMurdoch Children’s Research InstitutePerth ’s HospitalRoyal Melbourne HospitalThe KidGen CollaborativeGenetic Health Queensland, Royal Brisbane and Women’s HospitalDepartment of Renal Medicine, Westmead HospitalMonash HealthCentre for Population Genomics, Murdoch Children’s Research InstituteMonash Biomedicine Discovery Institute, Monash UniversityRoyal Darwin HospitalQueensland ’s HospitalGarvan Institute of Medical ResearchMurdoch Children’s Research InstituteThe KidGen CollaborativeThe KidGen CollaborativeAbstract Background Genetic kidney disease (GKD) significantly affects the community and is responsible for a notable portion of adult kidney disease cases and about half of cases in paediatric patients. It substantially impacts the quality of life and life expectancy for affected children and adults across all stages of kidney disease. Precise genetic diagnosis in GKD promises to improve patient outcomes, provide access to targeted treatments, and reduce the disease burden for individuals, families, and healthcare systems. Genetic investigations are increasingly used in nephrology practice; however, many patients who undergo testing still lack a definitive diagnosis. Methods The KidGen National Kidney Genomics Study aims to increase diagnostic yield for those with suspected monogenic kidney disease without a diagnosis after standard diagnostic genetic testing. The program will seek to enrol up to 200 families from KidGen Collaborative kidney genetics clinics across Australia who have yet to receive conclusive diagnoses despite prior testing. Participants will undergo a personalised pathway of research genomic investigations. These include re-analysing existing data and/or undergoing advanced genomic testing methods, including short and long-read whole-genome sequencing, RNA sequencing, and functional genomics strategies using mouse modelling or kidney organoids. Discussion The KidGen National Kidney Genomics Study is a coordinated, multidisciplinary extension of previous research projects that aims to assess the diagnostic yield of advanced genomic approaches. The study's evidence will drive changes to current diagnostic pathways, including identifying which chronic kidney disease patients are most likely to benefit from a more comprehensive genomic approach to diagnosis.https://doi.org/10.1186/s12882-024-03926-yStudy protocolGenetic kidney diseaseUndiagnosed patientsRe-analysisAdvanced genomic testingDiagnostic yield |
| spellingShingle | Amali Mallawaarachchi Hugh McCarthy Thomas A. Forbes Kushani Jayasinghe Chirag Patel Stephen I. Alexander Tiffany Boughtwood Jeffrey Braithwaite Aron Chakera Sam Crafter Ira W. Deveson Randall Faull Trudie Harris Lilian Johnstone Matthew Jose Anna Leaver Melissa H. Little Daniel MacArthur Tessa Mattiske Christine Mincham Kathy Nicholls Catherine Quinlan Michael C. J. Quinn Gopala Rangan Jessica Ryan Cas Simons Ian Smyth Madhivanan Sundaram Peter Trnka Laura Wedd Erik Biros Zornitza Stark Andrew Mallett Enhancing diagnostic outcomes in kidney genetic disorders: the KidGen national kidney genomics study protocol BMC Nephrology Study protocol Genetic kidney disease Undiagnosed patients Re-analysis Advanced genomic testing Diagnostic yield |
| title | Enhancing diagnostic outcomes in kidney genetic disorders: the KidGen national kidney genomics study protocol |
| title_full | Enhancing diagnostic outcomes in kidney genetic disorders: the KidGen national kidney genomics study protocol |
| title_fullStr | Enhancing diagnostic outcomes in kidney genetic disorders: the KidGen national kidney genomics study protocol |
| title_full_unstemmed | Enhancing diagnostic outcomes in kidney genetic disorders: the KidGen national kidney genomics study protocol |
| title_short | Enhancing diagnostic outcomes in kidney genetic disorders: the KidGen national kidney genomics study protocol |
| title_sort | enhancing diagnostic outcomes in kidney genetic disorders the kidgen national kidney genomics study protocol |
| topic | Study protocol Genetic kidney disease Undiagnosed patients Re-analysis Advanced genomic testing Diagnostic yield |
| url | https://doi.org/10.1186/s12882-024-03926-y |
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