As the coronavirus disease (COVID-19) epidemic continues to grow, regulatory bodies around the globe have authorized numerous tests for the coronavirus SARS-CoV-2—which was formerly known as 2019 novel coronavirus (2019-nCoV). In the U.S., the Food and Drug Administration first issued an emergency use authorization (EUA) for the Centers for Disease Control and Prevention’s (CDC) 2019-nCoV real-time reverse transcriptase polymerase chain reaction (RT-PCR) diagnostic panel, and has since granted all high-complexity labs permission to develop and perform their own tests for COVID-19 prior to receiving an EUA. As CLN went to print, FDA had also granted EUAs to Roche for its cobas SARS-CoV-2 test, which runs on the cobas 6800 and 8800 systems, and to Thermo Fisher for a SARS-CoV-2 test that runs on the company's Applied Biosystems 7500 Fast Dx real-time PCR instrument.

In China, the National Medical Products Administration has granted emergency use approval to the Chinese company BGI and its subsidiary MGI Tech for three coronavirus-related products: the PMseq metagenomics sequencing kit for coronaviruses, the ultra-high-throughput sequencer DNBSEQ-T7, which the PMseq runs on, and a real-time fluorescent RT-PCR kit for COVID-19. In particular, the PMseq and DNBSEQ-T7 could aid with epidemic control by not only identifying patients with COVID-19, but also by dynamically tracking the mutation of SARS-CoV-2 via sequencing.

Other regulatory authorizations for COVID-19 tests include emergency use approvals granted by the Korea Ministry of Food and Drug Safety to Seegene and KogeneBiotech for the COVID-19 Real-time PCR assay and PowerChek 2019-nCoV Real-time PCR kit, respectively. Seegene’s test also received the CE mark, along with a molecular test for COVID-19 developed by Novacyt’s molecular diagnostics division, Primerdesign, and the Logix Smart Coronavirus COVID-19 test developed by Co-Diagnostics.

FDA OKs First Test for Fragile X Syndrome

Asuragen has earned de novo Food and Drug Administration authorization for the AmplideX Fragile X Dx and Carrier Screen kit, making this the first commercially available test that detects fragile X syndrome. Healthcare professionals can use the test’s results in conjunction with a patient’s family history and symptoms to diagnose this genetic condition. In individuals with fragile X syndrome, a segment of the X chromosome gene FMR1, known as a CGG trinucleotide repeat, is repeated in excess. The AmplideX Fragile X Dx and Carrier Screen kit analyzes blood to measure the number of repeats of the CGG segment in the FMR1 gene. This determines whether a patient has a number of CGG repeats that is considered either normal, intermediate, premutation (which increases the risk of having a child with fragile X), or full mutation. In addition to aiding in the diagnosis of fragile X and identifying carriers of fragile X-associated mutations, Asuragen’s test aids in the diagnosis of fragile X-associated disorders, including fragile X-associated tremor/ataxia syndrome and fragile X-associated primary ovarian insufficiency.

Qiagen Gets CE Mark for Breast Cancer Co-Diagnostic

The CE mark has been granted to Qiagen for its therascreen PIK3CA Rotor-Gene Q polymerase chain reaction (PCR) kit, which identifies breast cancer patients with activating mutations in the phosphatidylinositol-4,5-biphosphate 3-kinase catalytic subunit alpha (PIK3CA) gene. In collaboration with Novartis, Qiagen developed the test as a companion diagnostic for Piqray (alpelisib) using a worldwide co-exclusive license from Johns Hopkins University for PCR-based companion diagnostics that detect mutations in the PIK3CA gene. The test detects 11 clinically actionable PIK3CA mutations, which are estimated to occur in approximately 40% of hormone receptor-positive, human epidermal growth factor receptor-2 negative advanced breast cancer cases. It also analyzes DNA from both formalin-fixed paraffin-embedded tissue or plasma specimens. Qiagen’s receipt of the CE mark for this test follows on the heels of the Food and Drug Administration approving the test in 2019 as a companion diagnostic for Piqray in the U.S.

Yourgene Health Earns Australian Approval for Chemotoxicity Test

Australia’s Therapeutic Goods Administration has approved Yourgene Health’s chemotoxicity diagnostics assay, Elucigene DPYD, which identifies cancer patients who are at risk of experiencing adverse effects from chemotherapy. Specifically, this genotyping test diagnoses cancer patients with dihydropyrimidine dehydrogenase (DPD) deficiency, which can cause severe and sometimes lethal side effects in patients taking the chemotherapeutic drug 5-fluorouracil (5-FU). This drug is commonly used to treat colon, esophageal, stomach, pancreatic, breast, and cervical cancers, and is metabolized by the DPD enzyme encoded by the DPYD gene. Researchers estimate that globally, more than 2 million people are treated with 5-FU every year, and of these, up to 20% will be hospitalized due to DPD deficiency and up to 1% may die.

Yourgene’s Australian distribution partner, Southern Cross, will market the Elucigene DPYD test in Australia. The test also previously received the CE mark in Europe in September 2019.

Genetron Health Receives Chinese Approval for Lung Cancer Panel, Sequencing Platform

The China National Medical Products Administration has approved two products from the Beijing-based company Genetron Health: a lung cancer panel called the 8-gene Lung Cancer Assay, and the high throughput next-generation sequencing platform, Genetron S2000.

The 8-gene Lung Cancer Assay detects PIK3CA plus seven genes that the 2018 National Comprehensive Cancer Network guideline recommends as biomarkers for non-small cell lung cancer: EGFR, ALK, ROS1, BRAF, KRAS, HER2, and MET. The test is based on Genetron Health’s One-Step Seq technology, which enables labs to complete the library construction process in one step of reaction, thereby minimizing manual operation and the chance of contamination. The test is compatible with both the Genetron S5 sequencing platform and the Genetron Chef system.

As for the Genetron S2000, this platform is designed for comprehensive genomic testing in high-throughput settings such as large hospitals and regional medical testing centers, with data output ranging from 55 to 1,440 gigabytes.

New York State Approves Enzo Biochem’s Molecular Tests for STIs

Enzo Clinical Labs, a wholly owned subsidiary of Enzo Biochem, has received New York State approval for its CT/NG/TV tests, which detect Chlamydia trachomatis (CT), Neisseria gonorrhoeae (NG), and Trichomonas vaginalis (TV). The tests use liquid-based cytology sample collection and run on Enzo Biochem’s proprietary GenFlex instrument, a high-throughput molecular diagnostic platform that includes sample collection, sample processing, amplification, and detection. In addition to the CT/NG/TV tests, Enzo is currently developing assays for other sexually transmitted diseases for the GenFlex platform. GenFlex builds on Enzo’s proprietary Ampiprobe detection technology and is designed to overcome challenges with existing molecular diagnostic platforms, such as the need for multiple independent instruments for extraction, polymerase chain reaction setup, and detection. Enzo also projects that the GenFlex platform will help labs to achieve 30%-50% more cost savings than the closed molecular diagnostic systems currently on the market.