MH Guide/BRCA and MH Guide/Mendel will assist doctors and human geneticists in making decisions about gene variant pathogenicity.
- MH Guide/BRCA and MH Guide/Mendel will assist doctors and human geneticists in making decisions about gene variant pathogenicity.
HEIDELBERG, GERMANY / ACCESSWIRE / March 2, 2021 / Molecular Health GmbH announced today that it has entered into an agreement with Kyoto-based FALCO biosystems Ltd. under which FALCO biosystems will use the products MH Guide/BRCA and MH Guide/Mendel to evaluate inherited genetic variants of BRCA1/2 and other heritable cancer-associated genes.
Inherited genetic variants can predispose an individual to cancer. Hereditary Breast and Ovarian Cancer (HBOC) Syndrome, for example, is caused by pathogenic mutations in distinct genes such as BRCA1/2, MLH1, MSH6, PMS2, respectively. Therefore, testing BRCA1/2 genes and other heritable cancer-associated genes is becoming increasingly important: both to evaluate the affected patient’s individual risk of developing cancer[1],[2], and as a predictive biomarker and companion diagnostic test for certain drugs[3]. Whereas MH Guide/BRCA detects variants in HBOC-associated genes, MH Guide/Mendel can analyze large gene panels as well as whole-exome or whole-genome data, so that many different hereditary diseases can be identified at once.
“With this collaboration in place, Japanese patients will benefit from state-of-the-art genetic identification of inherited diseases like Hereditary Breast and Ovarian Cancer and many other diseases. This will allow sooner diagnosis and potentially earlier therapeutic intervention”, said Christian Meisel, MD, PhD, Chief Medical Officer at Molecular Health.
Under the terms of this collaboration, FALCO biosystems will perform the next-generation sequencing (NGS) process and variant identification using blood samples provided by the patient. Molecular Health will then analyze the variant data using MH Guide/BRCA or MH Guide/Mendel. To accurately distinguish benign from pathogenic variants, MH uses an in-house proprietary database called MH Dataome, which integrates the Japanese reference genome ToMMo 3.5KJPNv2 (MAF >= 1%) for improved variant filtering and classification. Molecular Health gratefully acknowledges the contribution of Tohoku Medical Megabank.
MH Guide/BRCA and MH Guide/Mendel are part of MH Guide, a registered in-vitro diagnostic (IVD) medical device in Europe.
About Molecular Health
Molecular Health is a Biotech-IT company dedicated to big-data capture, curation, integration, and analytics. Our mission is to enable precision medicine and generate novel, actionable insights on drug outcomes for stakeholders across the healthcare ecosystem. For more information, visit www.molecularhealth.com
[1] https://www.cancer.net/cancer-types/hereditary-breast-and-ovarian-cancer
[2] National Comprehensive Cancer Network. NCCN Guidelines: Genetic/Familial High-Risk Assessment: Colorectal. https://nccn.org
[3] Pilié, P.G., Tang, C., Mills, G.B. et al. State-of-the-art strategies for targeting the DNA damage response in cancer. Nat Rev Clin Oncol 16, 81-104 (2019). https://doi.org/10.1038/s41571-018-0114-z
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SOURCE: Molecular Health
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