LONDON – Twenty years on from sequencing of the first draft of the human genome and the associated hype, 2019 was the year that the science of genomics truly began to make an impact in health care.

The screening of at-risk patients for Barrett’s esophagus, a precursor to esophageal cancer, has long been a goal for health systems. Currently, most patients with the condition remain undiagnosed, and more than 90% of individuals are identified after it has progressed into esophageal cancer via endoscopy, according to a 2018 paper in Digestive Diseases and Sciences.

HONG KONG – Pentax Medical Co., of Tokyo, has gained CE marking for its artificial intelligence-based polyp detector Discovery. The detector assists endoscopists in finding potential polyps during a colorectal examination. The software has been trained using more than 120,000 files from about 300 clinical cases.

Following lengthy consultations with industry, Australia’s Therapeutic Goods Administration (TGA) has released its new regulatory framework for in vitro companion diagnostics (IVD CDx) that becomes effective in February.

Rarecyte Inc., a Seattle-based company making products for tissue and cell analysis, reported picking up $22 million in a series F financing round led by Healthquest Capital. Also participating in the round were existing investors 5AM Ventures and Ron Seubert, Rarecyte’s founder and chief technology officer. The company plans to use the funds to expand global sales of its instruments and consumables platform in research clinical markets.

The Guardant360 assay accurately detected genomic alterations that permit patient matching to targeted therapies, according to a presentation of the plasmaMATCH study at the 2019 San Antonio Breast Cancer Symposium. The study is the largest ever performed for a liquid biopsy.