https://blog.ambrygen.com/list/category/Clinical%20Research Find the latest Ambry Genetics news by category: Clinical Research en https://blog.ambrygen.com/list/category/Clinical%20Research https://blog.ambrygen.com/assets/img/logo/Ambry_logo_web.jpg https://blog.ambrygen.com/ambry/post/414/study-finds-one-in-four-people-with-sarcoma-carry-a-pathogenic-variant-why-germline-testing-matters Huma Q Rana (Dana-Farber Cancer institute) explains a Journal of the National Cancer Institute study of whether germline pathogenic variants were more frequent in people with sarcoma than in cancer-free controls Tue, 30 Dec 25 06:52:00 -0800 Ambry Genetics Ambry Blog Clinical Research https://blog.ambrygen.com/ambry/post/413/smarca4-pathogenic-variants-gynecological-cancer-histories-from-a-laboratory-tested-cohort Dr. Adela Rodríguez-Hernández (Dana-Farber Cancer Institute) shares results from a study in Gynecologic Oncology that better characterized cancer patterns among individuals with SMARCA4 gPVs, addressing gaps in counseling, surveillance, and prevention. Wed, 17 Dec 25 06:28:00 -0800 Ambry Genetics Ambry Blog Clinical Research https://blog.ambrygen.com/ambry/post/387/from-research-to-reclass-4-200-patients-impacted-and-counting The Ambry Classifi program proactively reclassifies BRCA2 variants as reported in the groundbreaking Nature study, Functional Evaluation and Clinical Classification of BRCA2 Variants. Tue, 26 Aug 25 06:39:00 -0700 Ambry Genetics Ambry Blog Clinical Research https://blog.ambrygen.com/ambry/post/358/pioneering-new-research-to-support-rare-disease-patients-and-families Dr. Elizabeth Chao explains how Ambry's collaboration with PacBio to participate in the GREGoR Consortium to unlock the mysteries of the genome. Thu, 10 Oct 24 08:02:00 -0700 Ambry Genetics Ambry Blog Clinical Research https://blog.ambrygen.com/ambry/post/355/tclr-revisiting-an-innovative-method-for-mismatch-repair-variant-classification Jessie Gryzbowski describes Ambry's novel method to accurately classify alterations in mismatch repair (MMR) genes​ ​by incorporating a tumor characteristic likelihood ratio (TCLR) into the variant assessment framework Wed, 03 Jul 24 06:57:00 -0700 Ambry Genetics Ambry Blog Clinical Research https://blog.ambrygen.com/ambry/post/353/the-evolving-landscape-of-gene-disease-validity-curation-and-its-impact-on-clinical-utility Understanding the relationship between genes and diseases is crucial for improving patient care. Gene-Disease Validity (GDV) scoring techniques continue to evolve Tue, 02 Jul 24 07:37:00 -0700 Ambry Genetics Ambry Blog Clinical Research https://blog.ambrygen.com/patient/post/351/the-power-of-progress-philips-nf1-clinical-trial-experience Renie and Philip Moss share what it was like for Philip to participate in a clinical trial for NF1. Wed, 22 May 24 06:41:00 -0700 Ambry Genetics Patient Blog Clinical Research https://blog.ambrygen.com/patient/post/350/navigating-nf1-the-moss-familys-story-of-resilience-and-hope Renie and Philip Moss shared experiences and insights from their NF1 journey for NF Awareness Month. Thu, 16 May 24 06:32:00 -0700 Ambry Genetics Patient Blog Clinical Research https://blog.ambrygen.com/ambry/post/333/meet-raymonde-saintil-ambry-clinical-lab-manager Ambry highlights clinical lab manager Raymonde Saintil for International Day of Women and Girls in Science. Mon, 12 Feb 24 08:19:00 -0800 Ambry Genetics Ambry Blog Clinical Research https://blog.ambrygen.com/ambry/post/322/understanding-gene-disease-validity-in-breast-cancer-the-power-of-evidence An overview of gene-disease validity in the context of breast cancer, which affects approximately 1 in every 8 women. Tue, 17 Oct 23 04:07:00 -0700 Ambry Genetics Ambry Blog Clinical Research https://blog.ambrygen.com/ambry/post/319/genetics-in-medicine-publication-demonstrates-a-10-lower-rate-of-vus-with-wes-wgs-compared-to-panels A discussion of VUS and explanation of their significance, highlighting Ambry's collaboration in the GIM publication, The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change. Wed, 20 Sep 23 04:18:00 -0700 Ambry Genetics Ambry Blog Clinical Research https://blog.ambrygen.com/ambry/post/292/genetic-counselors-make-the-industry-world-go-round A day in the life of a genetic counselor is explored, along with all the roles a GC can fill in the industry. Tue, 08 Nov 22 06:00:00 -0800 Ambry Genetics Ambry Blog Clinical Research https://blog.ambrygen.com/ambry/post/185/direct-to-consumer-genetic-testing-taking-the-trend-to-the-next-level-responsibly Direct-To-Consumer genetic testing is not intended to diagnose medical conditions, but rather provides carrier status and, at most, provides information about the probability of developing some diseases. Thu, 04 May 17 21:42:00 -0700 Ambry Genetics Ambry Blog Clinical Research https://blog.ambrygen.com/ambry/post/171/can-patients-with-hematological-cancer-have-genetic-testing Genetic testing for patients with hematological cancer can be tricky, but the tips found here simplify the process. Mon, 10 Apr 17 16:52:00 -0700 Ambry Genetics Ambry Blog Clinical Research https://blog.ambrygen.com/ambry/post/175/current-genetic-testing-guidelines-miss-some-families-with-cdh1-mutations A new study aims to describe the clinical characteristics of CDH1 mutation carriers found through MGPT and offer informed recommendations for medical management. Mon, 03 Apr 17 12:06:00 -0700 Ambry Genetics Ambry Blog Clinical Research https://blog.ambrygen.com/ambry/post/164/four-reasons-why-genetic-testing-matters-to-the-individual-with-colorectal-cancer Colorectal cancer is third most common cancer diagnosed in both American men and women. Here are four points for patients on how genetic testing can help. Tue, 14 Mar 17 23:45:00 -0700 Ambry Genetics Ambry Blog Clinical Research https://blog.ambrygen.com/ambry/post/1/scientific-research-consent-made-easy Now anyone can participate in a scientific research study through AmbryShare's simplified consent process. Thu, 16 Feb 17 17:25:00 -0800 Ambry Genetics Ambry Blog Clinical Research https://blog.ambrygen.com/ambry/post/12/ambry-supports-movember-with-clinical-research-testing-menu-updates-and-mustaches The many male faces at Ambry are becoming a little scruffier in support of ‘Movember,’ an initiative dedicated to raising awareness about men’s health. Thu, 03 Nov 16 00:26:00 -0700 Ambry Genetics Ambry Blog Clinical Research