SYS-CON MEDIA Authors: Elizabeth White, Yeshim Deniz, Pat Romanski, Liz McMillan, William Schmarzo

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The Maternal and Children Health Hospital of Guangxi Zhuang Autonomous Region and LifeMap Sciences Join Hands to Improve Diagnosis for Rare Diseases

The Maternal and Children Health Hospital of Guangxi Zhuang Autonomous Region is a tertiary hospital in China, located in Nanning, the “Evergreen City” of Guangxi. With more than 1300 beds, it is one of the top 10 pediatric hospitals in China. Its Central Laboratory of Genetics and Metabolism offers comprehensive genetic and metabolic screening and diagnostic services for a large population of all ages (prenatal, perinatal and postnatal). The laboratory has a strong team of well-qualified professionals of medical genetics, cytogenetics, molecular biology, bioinformatics and other expertise. Professor Shen Yiping of Boston Children’s Hospital is on board, serving as the technical director. At present, the Laboratory uses state-of-the-art technologies and software tools for its genomic medicine service, including comprehensive carrier screening, pre-implantation genetic diagnosis, non-invasive prenatal diagnostic tests, prenatal diagnostics, newborn screening, and postnatal diagnosis and treatment for genetic disorders.

LifeMap Sciences is a life sciences technology company that develops and commercializes innovative Next Generation Sequencing (“NGS”) analysis solutions and tools, as well as the company’s core technology, the GeneCards® Suite Knowledgebase, which is developed at the Weizmann Institute of Sciences in Israel, to improve biomedical research & healthcare. Its TGex platform (https://tgex-app.genecards.org and https://tgex-app.genecards.cn in China) is a Clinical Genetics platform that provides accurate and rapid analysis, interpretation and reporting for rare disease diagnosis, health screening and tumor biopsy analysis. TGex is based on the GeneCards Suite Knowledgebase (www.genecards.org), which integrates information from more than 150 data sources and is a popular biomedical database that is used by >3,000 institutions world-wide, including top biotech-pharma, hospitals and academia.

In 2016, The Maternal and Children Health Hospital of Guangxi Zhuang Autonomous Region and LifeMap Sciences began their cooperation in the area of high-throughput sequencing data analysis and committed to improving the quality of service for rare disease patients. Under the guidance of Prof. Shen Yiping, the team established a robust process involving high-throughput sequencing, bioinformatics data analysis, variant interpretation, clinical reporting and genetic counseling, which included the use of LifeMap Sciences’ NGS analysis and interpretation platform, TGex. The laboratory developed a custom designed chromosomal microarray for high resolution detection of copy number variants in pre- and postnatal samples. The next generation sequencing based tests are used for most of the molecular tests, including carrier screening, NIPT, exome sequencing and panel sequencing. Working together with ordering physicians, and leveraging TGex and the GeneCards Suite Knowledgebase, the routine diagnostic yield of exome sequencing in the lab today reaches approximately 43%. The molecular test-based novel findings are helping many patients with accurate diagnosis and subsequent improved treatment, as well as helping physicians with their clinical research.

“TGex allows us to rapidly identify candidate genes and sites using its VarElect phenotype-genotype scoring algorithm,” said Dr. Qin Zailong, a key member of the molecular team, responsible for clinical exome data analysis. “Additionally, the user friendly interface allows for easy access to supporting evidence for disease-genes associations.”

“In addition to providing analysis of the association between genes and phenotypes, TGex has behind it a comprehensive biomedical database. It integrates more than 150 data sources and updates assessment evidence every month, helping us arrive at a clear clinical diagnosis quickly. At the same time, TGex is very easy to use. TGex’s cloud offering in China makes it easy to use anytime, anywhere,” said Dr. Wang Jin, another key member of the molecular team.

“We are very happy to collaborate with Prof. Shen’s team at the Maternal and Children Health Hospital of Guanxi,” said Yaron Guan Golan, CEO of LifeMap Sciences. “The partnership with their expert clinical genetics team has enabled us to provide better solutions for clinical genetic labs in China, and to develop superior algorithms for variant interpretation.”

In addition, doctors in the hospital look forward to extending their use of the TGex platform as they start implementing Whole Genome Sequencing in their clinical diagnostics.

About LifeMap Sciences

LifeMap Sciences is a life sciences technology company that develops and commercializes innovative Next Generation Sequencing analysis solutions and tools, as well as the company’s core technology, the GeneCards® Suite Knowledgebase, which is developed at the Weizmann Institute of Sciences in Israel, to improve biomedical research & healthcare.

Its TGex platform (https://tgex-app.genecards.org and https://tgex-app.genecards.cn in China) is a Clinical Genetics platform that provides accurate and rapid analysis, interpretation and reporting for rare disease diagnosis, health screening and tumor biopsy.

LifeMap’s TGex is used by some of the biggest pediatric hospitals in China and Europe, including Beijing Children’s Hospital in China and Bambini Gesù Hospital in Italy.

TGex is based on the GeneCards Suite Knowledgebase (www.genecards.org), which integrates information from more than 150 data sources and is a popular biomedical database that is used by 3.5 million users from >3,000 institutions world-wide, including top biotech-pharma, hospitals and academia.

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