Regulatory frameworks and quality assurance for NGS-based diagnostics

Status: Finished

Partners: DNV GL

As patients, we trust that medical diagnostics are reliable and accurate, but how can clinical genomics labs ensure the quality of tests based on new technologies?

While as patients we often assume that the medical devices and tests used in a hospital fulfill appropriate safety and quality standards set by organisations like the European Medicines Agency or the US Federal Drug Administration, the reality is more complex.

Precision medicine approaches often rely on combining the results of genetic tests with other data to make a diagnosis, but when new technologies such as AI or high-throughput gene sequencing are introduced, regulatory frameworks often lag behind innovation. In order to provide adequate care, hospitals develop and utilize so-called lab-developed tests (LDTs) from components not approved for human diagnostics. 

“While most medical systems in a modern healthcare setting undergo stringent approval processes and extensive clinical trials prior to use, the regulation of clinical Next Generation Sequencing systems is still immature.”

In this white paper, DNV GL explores what clinical genomics laboratories can do to ensure they provide effective diagnostics for precision medicine, proposes a three-tiered framework for quality in clinical genomics and provides an overview of and links to relevant sources.

Our hope is that by increasing awareness, diagnostics labs, regulators and other professionals can hold informed discussions about how to best ensure the safety, accuracy and reliability of genetic tests within the healthcare system.

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