Please use this identifier to cite or link to this item:
https://wslhd.intersearch.com.au/wslhdjspui/handle/1/8376
Title: | Informing a value care model: lessons from an integrated adult neurogenomics clinic |
Authors: | McLean, A.;Tchan, Michel C.;Devery, S.;Smyth, R.;Shrestha, R.;Kumar, K. R.;Tomlinson, S.;Tisch, S.;Wu, K. H. C. |
WSLHD Author: | Tchan, Michel C. |
Subjects: | Genomics |
Issue Date: | 2023 |
Citation: | Internal Medicine Journal 53(12):2198-2207, 2023 |
Abstract: | BACKGROUND: Advances in genomics provide improved opportunities for diagnosis of complex neurogenetic disorders, yet the optimal approach to translate these benefits to the outpatient clinic is unclear. Aim(s): We retrospectively reviewed referral indications and outcomes of an integrated multidisciplinary team (MDT) clinic pathway for adults with suspected neurogenetic disorders. The associated cost implications were estimated. METHODS: Consecutive patients who attended the neurogenomics clinic from January 2017 to April 2020 were included. The clinic comprised neurologists, clinical geneticists and genetic counsellors, who assessed each patient concurrently. RESULTS: Ninety-nine new patients were referred spanning 45 different clinical diagnoses. Following MDT clinical assessment, 23% (23/99) of referral diagnoses were revised prior to molecular testing. Eighty-one patients (82%) underwent genetic testing, including 43 exome-based panels, 15 whole-genome sequencing, 14 single gene tests, 27 repeat-primed polymerase chain reaction testing and two chromosomal microarrays. Overall, 33/99 patients (33%) received a diagnosis, either a molecular diagnosis (n = 24, of which 22 were diagnostic and two were predictive) or a clinical diagnosis (n = 9). Of the clinical diagnosis cohort, five patients received a diagnosis without molecular testing and four patients whose negative testing (one diagnostic and three predictive) allowed exclusion of genetic differentials and, hence, confirmation of clinical diagnoses. The diagnostic rate following MDT and diagnostic testing was 30% (28/94), excluding the five predictive testing cases. MDT assessment aligned with eventual molecular diagnoses in 96% of cases. The estimated average costs were AU$1386 per patient undergoing MDT assessment and AU$4159 per diagnosis achieved. CONCLUSIONS: We present an integrated multidisciplinary neurogenomics clinic pathway providing a diagnostic yield of 33% (30% excluding predictive testing cases), with costing implications. The relatively high diagnostic yield may be attributed to multidisciplinary input integrating accurate phenotyping of complex disorders and interpretation of genomic findings. |
URI: | https://wslhd.intersearch.com.au/wslhdjspui/handle/1/8376 |
DOI: | https://dx.doi.org/10.1111/imj.16103 |
Journal: | Internal Medicine Journal |
Type: | Journal Article |
Study or Trial: | Cohort Analysis Controlled Study Major Clinical Study Retrospective Study |
Department: | Genetic Medicine |
Facility: | Blacktown Westmead Auburn |
Affiliated Organisations: | St Vincent?s Clinical School, UNSW, Sydney, NSW, Australia St Vincent?s Clinical Genomics, Sydney, NSW, Australia Department of Neurology, St Vincent?s Hospital, Sydney, NSW, Australia Department of Genetic Medicine, Westmead Hospital, Sydney, NSW, Australia Discipline of Genetic Medicine, Sydney, NSW, Australia Faculty of Medicine, University of Sydney, Sydney, NSW, Australia Centre for Economic Impacts of Genomic Medicine, Macquarie University, Molecular Medicine in Neurology, Concord Repatriation General Hospital and the University of Sydney, Sydney, NSW, Australia Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Sydney, NSW, Australia School of Medicine, University of Notre Dame, Sydney, NSW, Australia |
Keywords: | Ambulatory care facilities Genetic testing Referral and consultation |
Appears in Collections: | Blacktown Mount Druitt Hospital |
Files in This Item:
There are no files associated with this item.
Items in the repository are protected by copyright, with all rights reserved, unless otherwise indicated.