Congratulations to UCD School of Medicine’s Dr Sally Lynch and all those involved in their recently published paper in the IMJ, titled, ‘Waste not, want not: Measuring waste and potential clinical risk from limited gatekeeping of Rare Disease genetic testing’.
Abstract
Aim
Review current genetic testing practices to look for evidence of
1) mainstream activity
2) inappropriate & unnecessary genetic test requests
3) requests for secondary findings.
Methods
Data was extracted from CHI@Crumlin and CHI@Tallaght laboratories databases and analysed.
Searches focussed on
1) quantity of send out requests
2) evidence of duplicate requests
3) evidence of inappropriate genetic test requests and
4) requests for secondary findings.
The team searched both hospital databases to estimate the number of array CGH tests being duplicated unnecessarily.
Total costs of genetic tests were derived from laboratory invoices.
Results
11,262 genetic test requests were received in CHI@Crumlin (2022). Mainstream clinicians accounted for a significant numbers of test requests. Requests for secondary findings in minors occurred.
A total of 345 duplicate in-house CHI@Crumlin requests were identified. Gatekeeping of these duplicate samples saved €197,700.
The team identified 73/1213 (6%) unnecessary duplicate array tests between CHI @Crumlin and CHI@Tallaght, costing CHI €21,720.
Discussion
Mainstream genetic testing is common. Inadequate gatekeeping results in duplicate and inappropriate testing with significant ethical clinical risk and cost implications. A lack of National governance structures is causing a clinical risk. The study suggests that these risks are likely to be widespread.
Read the full paper here.
S.A. Lynch(1,2), D. Butterly(1), D. M. Lambert(1), C. Clabby(2), B. O’hIci(2), L. Johnston(3), S. Kelly(4), D. McDonald(4), J. McDaid(2), A. Ward(1).
1. School of Medicine & Health Science, University College Dublin, Dublin 4, Ireland.
2. Clinical Genetics Department, Children’s Health Ireland at Crumlin, Dublin 12, Ireland.
3. Pathology laboratory, Tallaght Hospital, Tallaght, Dublin 24, Ireland.
4. Children’s Health Ireland at Tallaght , Dublin 24, Ireland.