November 6, 2020

NGS: from research to clinical use

 Expanding Use of Clinical Genome Sequencing and the Need for More Data on Implementation

During the past 5 years, next-generation sequencing (NGS) has transitioned from research to clinical use.At least 14 countries have created initiatives to sequence large populations (eg, All of Us, Genomics England), and it is projected that more than 60 million people worldwide will have their genome  sequenced by 2025.

If this is so,

 Understanding how NGS is being used and paid for is critical for determining its clinical and economic benefits and addressing current and future challenges to appropriate implementation.

 Without consistent information on clinical utility and how NGS tests are implemented in clinical care, it is not possible to develop an understanding of benefits and harms associated with NGS. It is not always the case that evidence of clinical utility leads to improved outcomes, and evidence about implementation is required to complete the assessment of the effects on population health. Implementation science is intended to support the integration of findings from scientific evidence to uptake in routine clinical care in the ongoing cycle of a learning health care system.

This is clearly a call for action. However, in my country the call is for both developing NGS  (nothing has started) and asessing implementation. Is there anybody in the room?