JMIR Publications

ABSTRACT

Background:

The participation to quality controls, also called External Quality Assessment (EQA) schemes, is required for the ISO15189 accreditation of the medical centers of human genetics. However, directives on the minimal frequency of participation to genetic quality controls schemes are lacking or too heterogeneous, with a possible impact on healthcare quality.

Objective:

The aim of this project is to develop Belgian guidelines on the frequency of participation to quality controls for genetic testing in the context of rare diseases.

Methods:

A group of experts has analyzed 90 EQA schemes offered by accredited providers and focused on analyses used for the diagnosis of rare diseases. On that basis, the experts developed practical recommendations about the minimal frequencies of participation of the medical centers of human genetics to quality controls and how to deal with poor performances and change management. These guidelines were submitted to the Belgian Accreditation Body and then reviewed and approved by the Belgian College of Human Genetics and Rare Diseases and by the National Institute for Health and Disability Insurance.

Results:

The guidelines offer a decisional algorithm for the minimal frequency of participation to human genetics EQA schemes. This algorithm has been developed taking into account the scopes of the EQA schemes, the levels of experience and the annual volumes of the center of human genetics in the performance of the tests considered. They include 3 key principles : (i) the recommended annual assessment of all genetic techniques and technological platforms, if possible through EQAs covering the technique, genotyping and clinical interpretation, (ii) the triennial assessment of the genotyping and interpretation of specific germline mutations and pharmacogenomics analyses, (iii) the documentation of actions undertaken in the case of poor performances and the participation to a quality control the following year. The use of a Bayesian statistical model has been proposed to help the centers of human genetics to determine the theoretical number of tests that should be annually performed in order to achieve a certain threshold of performance (e.g. maximal error rate of 1%). Besides, the guidelines insist on the role and responsibility of the national public health authorities in the follow-up of the quality of analyses performed by the medical centers of human genetics, and demonstrate the cost-effectiveness of the rationalization of the frequency of participation to these quality controls.

Conclusions:

These guidelines have been developed based on the analysis of a large panel of EQA schemes and data collected from the Belgian Medical Centers of Human Genetics. They are totally applicable to other countries and will facilitate and improve the quality management and financing systems of the medical centers of human genetics. Clinical Trial: not applicable