Noridian Healthcare Solutions opened a draft local coverage determination for gene tests for heritable thoracic aortic disease per a request from Invitae Corp., of San Francisco, which makes a comprehensive panel test for aortopathy.
Up to 50% of glaucoma cases have a genetic component, a factor which could significantly change the screening recommendations and monitoring of patients – if they know their risk. Seonix Pty. Ltd. has a vision for making that genetic information easier to obtain and use to guide care with its Sightscore saliva-based test.
Artificial intelligence-powered rare disease diagnostics firm 3billion Inc. debuted on the tech-heavy Kosdaq board of the Korea Exchange Nov. 14 with its IPO raising about ₩14.4 billion (US$10.25 million) via an offering of about 3.2 million shares at ₩4,500 per share, the low end of its offering price range.
For Inocras Inc., the benefits of whole genome sequencing are two-fold. First is its explicit usefulness in diagnosing and treating hard-to-treat diseases like cancer and rare diseases. The second, less apparent, benefit lies in the data generated in the process, and its applications to current and future generations of cancer patients.
The U.K. National Institute for Health and Care Excellence endorsed the use of testing for the CYP2C19 genotype for management of clopidogrel usage after ischemic stroke and heart attack, but the agency is specific about the use of tests by Genedrive plc and Genomadix Inc. in point-of-care settings as alternatives to lab testing.
The U.S. Federal Trade Commission announced Nov. 21 that it has obtained a civil monetary penalty in the amount of $700,000 from CRI Genetics LLC, an enforcement action taken under the agency’s policy for biometrics information.
Pacific Biosciences Inc. and Genedx Inc. reported a research collaboration with the University of Washington to study HiFi long-read whole genome sequencing’s (WGS) capacity to boost diagnostic rates in pediatric patients with genetic disorders.
The U.S. Office of Inspector General (OIG) has concluded an analysis that found fault with Medicare payments for genetic testing under CPT code 81408, a code that covers tests for a variety of mutations of medical interest. According to OIG, these claims were often paid $2,000 each despite poor oversight from Medicare administrative contractors (MACs), raising the risk that a substantial percentage of roughly $888 million in claims paid between 2018 and 2021 were either fraudulent or at best inappropriate.
The American College of Cardiology and the American Heart Association (AHA) released new guidelines for the diagnosis and management of aortic disease just ahead of this year’s AHA Scientific Sessions, which start Nov. 5 in Chicago. The update is the first comprehensive revision to the guidelines since 2010. Key recommendations address screening and diagnostic testing, imaging, patient involvement in care decisions and when to consider surgery.
Genetic testing has the potential to identify infants and children with autism potentially years earlier than clinical assessments, improving response to therapies and long-term outcomes. Sema4 Holdings Corp. presented results of a study Oct. 13 at the Child Neurology Society Annual Meeting that showed exome sequencing improved the diagnosis of autism spectrum disorders by up to 21% compared to current methods. At the same time, the research suggested that exome sequencing can identify children at risk of common comorbidities such as epilepsy, enabling more timely interventions.
