Recommendations for whole genome sequencing (WHS) in diagnostics for rare diseases

Marielle van Gijn from our RITA WG on Mol. Testing just shared this publication. Might be interesting for the following newsletter.

General recommendations

The WGS technology and applications are constantly changing and are still improving. This should not prevent the implementation of WGS in diagnostics as WGS offers a potential overall benefit for the patient. However, before implementation in a clinical diagnostic setting, the test needs to be sufficiently validated.
1: It is recommended to introduce WGS analysis in a diagnostic setting when it is a relevant improvement on quality, efficiency and/or diagnostic yield.
2: Diagnostic WGS for rare diseases and cancer (as well as other genetic testing approaches) should only be performed in accredited laboratories.
3: NGS should not be transferred to clinical practice without acceptable validation of the tests.
4: Confirmation, interpretation and communication to the patient of results obtained in a research setting should always be done after re-testing on (preferably) an independent sample by a diagnostic laboratory.