P KEAREY1, A MALLETT1,2,3,4, A CAMERON1,2, H HEALEY3, C DENARO1,5, M THOMAS6, V LEE7,8, M FULLER9, W HOY1,2
1Faculty of Medicine, The University Of Queensland, Brisbane, Australia, 2CKD.QLD & NHMRC CKD.CRE, The University of Queensland, Brisbane, Australia, 3Kidney Health Service, RBWH, Brisbane, Australia, 4The KidGen Collaborative, Brisbane, Australia, 5Department of Internal Medicine and Aged Care, RBWH, Brisbane, Australia, 6Department of Nephrology, Royal Perth Hospital, Perth, Australia, 7Department of Renal Medicine, Westmead Hospital, Sydney, Australia, 8Sydney Medical School, Faculty of Medicine and Health, Sydney, Australia, 9Genetics and Molecular Pathology, SA Pathology, Adelaide, Australia
Aim: To describe large scale implementation of a Fabry Disease (FD) screening study to determine prevalence of FD among patients with chronic kidney disease (CKD) in Queensland.
Background: FD is a rare genetic condition caused by the absence or deficiency of the enzyme alpha-galactosidase A (α-Gal A), leading to accumulation of globotriaosylceramide (GB3) throughout the body, including kidney cells.
Methods: A cascade screening strategy was employed utilising a combination of dried blood spot (DBS) and Lyso-GB3 testing, with diagnostic confirmation through genetic sequencing. Adult patients with any stage of CKD (including dialysis and transplant) were eligible. Program implementation included: development of study protocol, patient information and consent form, case report forms; creation of REDCap database; multi-site ethical approval; site feasibility, site-specific assessments; site induction and comprehensive on-site training; establishment of pathology collection, reporting and tracking processes; site audits and comprehensive ongoing site support; and reimbursement of nursing time. aCQuiRE was an investigator-initiated study, funded by Sanofi Genzyme and sponsored by The University of Queensland.
Results: 3,000 CKD patients were screened across seven sites. Sites that provided dedicated nursing time and a private space for FD screening were able to screen more patients. Reimbursement of nursing time enabled most sites to provide dedicated nursing time for screening, however some institutional barriers remained. Quality issues were identified for initial DBS tests at some sites. Cascade testing and adherence to the DBS finger prick method increased sample quality.
Conclusions: A FD screening program was successfully implemented within public renal units across Queensland. The ability to commit institutional resources (e.g. nursing time, private room), were important for success. Some institutional barriers remained, despite reimbursement of nursing time.
Phoebe Kearey is a research management professional. She completed undergraduate studies in psychology at The University of Queensland in 1997 and a Master of Health Science (Health Promotion) in 2004 at Queensland University of Technology. She has extensive experience with health program development, implementation and evaluation within University Medicine and Health Faculties in Brisbane and Sydney, including as Research Manager for the aCQuiRE Fabry Screening study. Her professional areas of interest include implementation and management of medical and health research programs.