Genomics Spotlight - March 2025
Gen Era Diagnostics
Gen Era provides products and services in molecular diagnostics and life sciences.
Catch up on all the highlights in this month's spotlight!
March was Colorectal Cancer Awareness Month 🎗️
What you should know about it?👇🏻
🧬 Approximately 10% of colon cancer cases are hereditary, often linked to Lynch Syndrome.
🔍 Genetic testing plays a key role in early identification of high-risk individuals—empowering both prevention and treatment.
What should healthcare professionals do?
In the Spotlight: Genomics Biomarkers in Oncology 🧬
This month, we turned the spotlight onto some of the most impactful genomic biomarkers shaping precision oncology:
🔹 MSI (Microsatellite Instability): A key pan-cancer biomarker, MSI is pivotal in immunotherapy decisions and in identifying hereditary cancer syndromes. NGS-based MSI testing has emerged as a gold standard, offering superior accuracy and seamless integration with broader genomic panels, allowing for more precise and personalized treatment approaches.
🔹 TMB (Tumor Mutational Burden): High TMB levels are linked to better immunotherapy outcomes. Comprehensive panels, such as Integrated DNA Technologies Archer VariantPlex®, are proving essential in evaluating TMB, along with MSI, HRD, and LOH, all within a single test. This approach enhances the understanding of tumor profiles, aiding in more informed treatment decisions.
🔹 HRD (Homologous Recombination Deficiency): The GIINGER™ algorithm with SOPHiA GENETICS has made HRD detection more accessible through low-pass WGS—offering a cost-effective, CE-IVD certified solution for broader clinical use.
👉🏻 ESMO Precision Medicine Working Group recommends SOPHiA DDM Dx HRD Solution as a validated method for detection of HRD.
Haven’t you seen it yet? Catch our latest episode now! 🎥
Featuring Can Ebru Kurt , MD, we share how NGS is enabling breakthroughs in neuromuscular diseases.
🧠 From SMA to ALS, gene therapy and gene silencing are reshaping treatment possibilities.🔬 With NGS, we move from diagnosis to personalized treatment—opening new doors where options were once limited.
▶️ Watch the full video 👇🏻
NGS Meets Pathology at PAKO 2025 🧪
Molecular pathology took the spotlight this March at the 15th Pathology Winter School—PAKO 2025, where real-life cases and hands-on discussions brought the power of NGS into focus.
👉🏻 While Can Holyavkin introduced the technical foundations of Next-Generation Sequencing (NGS) and its critical role in molecular diagnostics, Assoc. Prof. Ibrahim Kulac and M. Çisel Aydın , MD brought NGS into daily clinical context, sharing practical applications and real-world examples.
It was a hands-on, insightful weekend—and we were glad to be a part of it!
Genomics Testing in Cardiology – Webinar Replay Available 📢
In case you missed it, our latest Genome Era Talks webinar is focused on genetic testing in cardiology and its recording available now on Youtube!
Featuring Özlem Akgün Doğan MD and Mehmet Karacan, MD the session explored:
▶️ Watch the webinar: Click here
Discover, Innovate, Transform with Gen Era. 🧬