Avesthagen consolidates its position with an innovative platform for precision diagnostics

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Avesthagen Limited, India’s pioneering Systems biology
genomics company, has launched AVGEN Diagnostics, the first fully integrated end-to-end
personalized genetic testing service. The innovative platform employs the latest in NGS
sequencing technology and AI driven precision analytics that drive diagnostic testing services
at B2C, B2B levels forging partnerships with hospitals, private clinics and health insurers. The
portfolio includes tests for common diseases, customized panels for different disease
conditions and comprehensive disease risk panels, interpreting all genes associated with the
patient’s phenotype.
AVGEN Diagnostics address the $15bn global genetic diagnostic testing market through
AvestaScan®, its portfolio of NGS-driven tests that cover Whole Genome Sequencing, Whole
Exome Sequencing and CALiBRx® (Directed Panel Sequencing) for early diagnosis and risk
management of heritable conditions. The portfolio addresses Cancers, Cardiac Care
Diagnostics, Neurodegenerative conditions, Autoimmune conditions, Rare diseases,
pharmacogenomics, ancestry analysis and a unique set of tests for women’s health –
reproductive genomics and fertility testing, Carrier Screening, and Pre-Natal Diagnostics with
precision analytics powered by Congenica, UK a digital health company, that enables
precision medicine through its AI-powered diagnostic decision support platform for genomic
data.
The partnership with Congenica’s knowledge base of comprehensive disease risk associated
genome variant panels, enables screening for more mutations than any other service. It comes
amidst efforts in the genomics market to develop precision diagnostics for unique patient
groups defined by a genetic profile. The portfolio offers a thorough and cost-effective
diagnostic tool for individuals with distinctive clinical features and rapid interpretation of nextgeneration sequencing data with confidence, improving patient outcomes, and reducing the
burden on healthcare systems.
AVGEN Diagnostics will be uniquely supported by the R&D outcomes of its flagship, The
Avestagenome Project®, which will provide accelerated and continuous innovation to create
a pipeline of novel diagnostic tests, enabling best-in-class patient care. The Avestagenome
Project® uses Congenica’s variant prioritization platform for its projects that include screening
of the Zoroastrian Parsi Female Reference Genome and the Male Reference Genome for
Clinically actionable variants, Clinical study of Pancreatitis, Type 1 Diabetes and Ulcerative
Colitis among Zoroastrian Parsi family cohorts from The Avestagenome Project®.
AvestaScan offers the best-in-class NGS sequencing services through Wipro Limited and its
NABL 15289 and CAP-certified labs. Wipro, who is Avesthagen preferred partner for
Avesthagen’s R&D project titled ‘“Cancer Risk Assessed by NGS profiling of Circulating free
DNA and RNA for Lung Cancer Project related Genomics Sequencing services’” will develop
a liquid biopsy-based test, for predicting early risk for lung cancer. The portfolio’s cutting- edge
AI-driven genomics interpretation is powered by Congenica, Cambridge, UK, Avesthagen’s
exclusive analytics partner in the Indian Market for its commercial genetic testing portfolio.
AvestaScan® will be offered through strategic partnerships with multi-speciality hospitals,
super speciality clinics and Diagnostic chains for the India launch, followed by expansion in
South Asia, Southeast Asia and the MENA through focussed B2B and B2C commercialization
partners.
Dr Villoo Morawala Patell, Chairperson and Managing Director of Avesthagen and The
Avestagenome Project®, said: “Our genetic testing service aims to consolidate all the critical
genetic biomarkers into a single, effective, and comprehensive testing platform that de-risk
individual health by identifying clinical variants especially in those with genetic predisposition
to heritable disorders that would otherwise require time-consuming sequential gene tests.
Our partnership with Congenica enables us to accelerate preventive and early diagnosis to
deliver personalized medicine across India.”

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