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Published on June 13, 2023
The American College of Medical Genetics and Genomics (ACMG) has increased the recommended number of pathogenic variants in CFTR gene that can cause cystic fibrosis (CF) from 23 to a set of 100 variants. The new list supersedes the previous smaller group of variants for carrier screening, a form of…
Published on December 5, 2022
Two companies with complementary technologies are collaborating to bring new reproductive health and carrier screening assays to market. The collaboration will combine Asuragen’s PCR expertise with Oxford Nanopore’s any-read-length DNA sequencing technology to develop a system that will identify the most challenging yet high prevalence carrier genes in a single,…
Published on August 3, 2020
Long-read sequencing company Pacific Biosciences (PacBio) and molecular diagnostics developer Asuragen have announced a clinical research collaboration to developing tests for carrier screening leveraging PacBio’s Single Molecule, Real-Time (SMRT) Sequencing technology. According to the companies, the SMRT technology will help improve variant detection as most common carrier genes for autosomal…
Published on June 1, 2017
Sponsor: Thermo Fisher Scientific Thermo Fisher Scientific announces the new CarrierScan™. The assay is the first comprehensive, pan-ethnic research solution that enables laboratories to assess genomic variation associated with more than 600 genes involved in inherited diseases, such as cystic fibrosis and thalassemia. In all, it is designed to detect…
Published on July 24, 2024
A new study from the Mayo Clinic finds that current screening protocols fail to catch a significant number of individuals with genetic mutations linked to hereditary breast and ovarian cancer syndrome (HBOC) and Lynch syndrome, which increase the risk of developing certain cancers. Their findings, published in JCO Precision Oncology,…
Published on April 8, 2022
Thanks largely to genomic advances, an increasing number of advocates are pushing for the use of genome sequencing to improve newborn screening. While this would undoubtedly improve risk assessment for a range of genetic conditions, challenges such as costs and ethical concerns could hinder rollout on a wider scale. Newborn…
Published on February 23, 2022
Annual magnetic resonance imaging (MRI) screening from 30 years of age may reduce breast cancer mortality by more than 50% in women with pathogenic mutations in the ATM, CHEK2, and PALB2 genes, suggest data from a modeling study led by University of Washington researchers. Currently, the National Comprehensive Cancer Network recommends…
Published on December 1, 2021
Cell-free (cf)DNA based non-invasive prenatal testing (NIPT) hit a milestone last August when the American College of Obstetricians and Gynecologists (ACOG) and the Society for Maternal-Fetal Medicine recommended it should be offered to all pregnant women regardless of their age or risk status. Since being introduced commercially 10 years ago,…
Published on October 20, 2021
Carrying out genetic testing on siblings of infants found to be carriers of cancer-associated gene variants can save lives and costs later on, suggest the results of a new study. Led by Ann Chen Wu, an associate professor in the Department of Population Medicine at Harvard Medical School, the study…
Published on November 17, 2020
Population-wide screening of younger women for hereditary breast and ovarian cancer (HBOC) may be more cost-effective than broadly testing older women, according to a new study in JAMA Network Open. Women between the ages of 20 and 35, the researchers found, have more time to take action to prevent these…
Published on March 26, 2019
Sponsor: Invitae Invitae has added non-invasive prenatal screening (NIPS) to the its women’s health genetic testing services. In combination with the expanded carrier screening (ECS), Invitae now offers integrated testing using the two most common prenatal genetic tests, with in-depth follow-up testing available for patients who need it. Invitae’s NIPS…
Published on October 2, 2018
Neither nuclease nor immunostimulation nor endosomal barrier stays these nanocarriers from the swift completion of their appointed rounds. Reassuring words. But if you’re sending an RNA-based drug, you’d still like some sort of delivery confirmation. To date, nanoparticle delivery services have offered DNA barcodes, which are sort of like tracking…
Published on July 24, 2015
The Perinatal Quality Foundation (PQF) has begun a nationwide campaign to improve understanding of the advantages, limitations, and clinically appropriate interpretation of results of noninvasive prenatal screening and other diagnostic tests for pregnant women and their healthcare providers. Quest Diagnostics is the first commercial organization to support the initiative, through…
Published on February 20, 2015
The FDA has granted 23andMe authority for marketing a direct-to-consumer genetic test, nearly a year and a half after forcing the company to stop selling its Saliva Collection Kit and Personal Genome Service® (PGS), and submit to agency review of its test as a medical device. 23andMe won authority to…
Published on January 13, 2021
Long-read sequencing platform company Pacific Biosciences (PacBio) announced today a multi-year collaboration with genetic test provider Invitae to begin development of a production-scale high-throughput sequencing platform with the intent to broaden Invitae’s testing capabilities via PacBio’s HiFi sequencing platform. The terms of the collaboration were not released, though the companies…