Imafidon, Miriam (2020) THE 5GPM PROJECT IN PRACTICE Miriam Imafidon, S2563169 University Medical Center Groningen Department of genetics Dr. C.C. van Diemen & E.N. de Boer April 2020 A RETROSPECTIVE COHORT. thesis, Medicine.
Full text available on request.Abstract
Background In 2014 the department of genetics of the University Medical Center Groningen (UMCG) started the five genes per minute (5GPM) project. This project was initiated to increase the diagnostic yield for critically ill newborns admitted to the neonatal intensive care unit (NICU) and aimed for a turnaround time of two weeks. This quick turnaround was important to decrease morbidity and mortality on the NICU. As of today, 5GPM has been incorporated into the regular care provided by the department of genetics. The aim of this study was to assess the current diagnostic yield and turnaround time of the 5GPM project. Methods We included 175 patients admitted to the NICU of the UMCG between December 2017 and January 2020 that received a genetic consultation. We retrospectively assessed the reason for referral, the genetic diagnostic techniques implemented, turnaround times, diagnostic yield, incidental findings, the effect of diagnosis on further received health care and the specific diagnoses that could be made because of the implementation of 5GPM. Results The overall diagnostic yield after regular genetic diagnostic techniques (non-5GPM) was 42/108 (38.9%), with a median turnaround time of 15 days (range 1-281 days). The diagnostic yield after 5GPM was 11/38 (28.9%), with a median turnaround time of 16 days (range 1-201 days). 5/11 (45.5%) of patients diagnosed via the 5GPM project, could not have been diagnosed with one of the smaller existing targeted gene panels of the department of genetics. The department of genetics was able to inform 87.7% (57/65) of diagnosed patients and parents about the prognosis associated with the genetic diagnosis. Conclusions The 5GPM project adds important value to the care for critically ill newborns admitted to the NICU. The implementation of 5GPM led to an increased diagnostic yield by 9.8% of patients that could not have been diagnosed with the regular diagnostic techniques offered by the department of genetics.
| Item Type: | Thesis (UNSPECIFIED) |
|---|---|
| Supervisor name: | Dr. van Diemen, C.C. and de Boer, E.N. |
| Faculty: | Medical Sciences |
| Date Deposited: | 31 Oct 2023 12:35 |
| Last Modified: | 31 Oct 2023 12:35 |
| URI: | https://umcg.studenttheses.ub.rug.nl/id/eprint/3719 |
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