Quest Diagnostics recently announced the launch of its first consumer-initiated genetic test intended to help people understand their risk of developing certain inheritable health conditions.
Based on advanced next-generation sequencing (NGS) technologies, the Genetic Insights test analyzes 36 genes to identify potential risks of nearly two dozen diseases, including breast and colon cancer, and heart and blood disorders. The test also reports carrier status for cystic fibrosis, sickle cell anemia, and Tay-Sachs disease. Quest noted that Genetic Insights is an elective screen and is not as sensitive as other NGS-based diagnostic genetic test services.
Individuals who purchase Genetic Insights will receive an at-home saliva-collection kit and will then ship their sample back to Quest Diagnostics for analysis in one of the company’s state-of-the-art laboratories. An independent physician orders the test for the patient, provides personalized information about the link between the genetic findings and the patient’s health status, and is available to discuss the patient’s questions. Test results will be available within 3–5 weeks.
Users can go online to access educational materials, provide relevant personal and family health history, track the status of each test kit, access personalized genetic health, and schedule a session with a genetic counselor at no extra charge.
l RESEARCHERS AIM FOR RAPID BIOMARKER DIAGNOSTIC TEST FOR STROKE
A forthcoming study aims to develop a rapid noninvasive test for quick, accurate stroke diagnosis, potentially flagging patients for treatment before irreversible brain damage occurs.
Golden Hour for Stroke (GHOST) researchers in the United Kingdom hope to identify stroke biomarkers in blood, urine, or saliva. The study involves paramedics who will collect saliva, blood, and urine samples from patients with suspected stroke within the first hour after symptom onset. Further sampling of blood, saliva, and urine will continue in the hospital, while patients receive standard clinical care.
The research team will pay particular attention to salivary small noncoding RNAs (sncRNAs). Previous research has shown that they could be used in tests to differentiate between concussed and non-concussed patients. Although the GHOST study will be the first to investigate whether there are sncRNAs that are specific to stroke, previous studies have confirmed stroke-specific RNA biomarkers in the blood. Researchers will also investigate whether biomarkers can differentiate between ischemic and hemorrhagic stroke, which need diametrically different treatment.
The study will run for 3 years, with results expected in late 2026.
EPIGENOMICS ANNOUNCES ACQUISITION BY NEW DAY DIAGNOSTICS
Epigenomics and New Day Diagnostics have entered into an agreement where New Day will acquire most Epigenomics assets.
Under the terms of the agreement, Epigenomics will transfer all patents as well as its entire biobank to New Day.
Epigenomics officials noted that their company can no longer provide resources needed for further development and commercialization of next-generation testing. They expect the sale of their company’s assets to New Day will enable commercialization of the Epi proColon next-generation test and secure future cash flows for Epigenomics.
The sale also increases the likelihood of the test’s coverage by the Centers for Medicare & Medicaid Services due to the combination of Epigenomics and New Day biomarkers, Epigenomics officials added.
SUNBIRD, GLYMPSE MERGER TO ACCELERATE DEVELOPMENT OF DIAGNOSTIC TECHNOLOGIES
Sunbird Bio has acquired Glympse Bio to accelerate development of Glympse’s protein-based diagnostic platforms.
The platform has a clinical-stage pipeline of diagnostic tests based on two innovative, validated technology platforms, APEX and Glympse. They detect properties and activity of circulating proteins to give researchers and clinicians insights not available or accessible from current tests. APEX is a proprietary diagnostic platform that identifies from a blood draw aggregated amyloid-β in circulation. Peptide aggregation is pivotal in the pathogenesis of Alzheimer’s disease. APEX identifies it accurately, with a very high correlation to gold standard PET scans. The Glympse diagnostic platform is the first to have demonstrated the capability to measure and analyze protease activity in the blood.
Sunbird Bio officials noted that the combined diagnostic offerings accomplished via the merger may accelerate clinical research and the availability of new treatments for patients suffering from Alzheimer’s disease and other serious conditions.
Sunbird Bio will have U.S. headquarters in Cambridge, Massachusetts, with operational headquarters in Singapore, where Glympse Bio was based.
NEBRASKA MEDICINE AND HELIX PARTNER TO PROVIDE PRECISION CARE
Helix and Nebraska Medicine recently announced a partnership to launch a population genomics program to drive precision medicine for all individuals in Nebraska.
The Genetic Insights Project will identify participants’ risk for a variety of cancers and other potentially life-threatening diseases with a single test. The project will provide important information about serious health conditions by testing for mutations in genes connected to a higher risk of breast and ovarian cancer, Lynch syndrome, and high cholesterol. The research program may also expand its panel of genetic markers in the future, potentially providing information about other conditions.
The program plans to enroll 100,000 people, which would make it the largest population health program in Nebraska.
Nebraska Medicine joins other health systems nationwide in partnering with Helix to launch this program. Nebraska Medicine and Helix plan to officially launch the program on a limited basis in late 2023.
l PROTEOMICS FIRM LAUNCHES IN THE U.S.
The South Korea-based proteomics firm Bertis recently launched its Pan-omics Analysis Solution (PASS) in the United States through its wholly owned U.S. subsidiary, Bertis Bioscience.
Bertis Bioscience has signed its first agreement with the Salk Institute for Biological Studies to provide a PASS service using its CLIA lab and proteomics experts in San Diego. As part of the U.S. PASS offerings, Bertis Bioscience will initially offer proof-of-principle studies for protein biomarker discovery using Seer’s proteograph and nanoparticle kits.
Bertis previously launched PASS in South Korea in May 2022. PASS includes a robust suite of analytical services including protein identifications, biomarker discovery, and drug target discovery analytical services, the company said.