Mapping the development pipeline of genomic point-of-care tests: a horizon scan

As precision medicine increasingly relies on genetic information, the development of reliable genomic point-of-care tests (POCTs) is essential. However, the number of technologies that have reached true clinical usability is limited. There is a growing need for POCTs that enable rapid, accurate analysis of human genetic variation, particularly across diverse clinical settings without requiring specialist expertise.

This horizon scan aimed to provide an overview of the development pipeline of POCTs to identify variation(s) in the genome and epigenome that enable the use of genetic information to inform diagnosis, prognosis, and treatment decisions in any clinical area. Database (Embase and MEDLINE) and clinical trial registry (ClinicalTrials.gov) searches were conducted from 2019 to 19 December 2024; 346 unique technologies were identified.

A range of purposes and conditions were identified; the most common being diagnosis (n = 263) and cancer (n = 237) respectively. We defined 'true POCTs' as those that were highly automated, capable of analyzing complex samples, and operable by non-specialists. Only 36 met these criteria; six are already on the market, one is in clinical trials, and the remaining 29 are at various stages of development. Overall, most technologies were in early stages of development, highlighting the need for further innovation and validation.