Baylor Genetics, a leader in genetic testing, announced today the launch of clinical whole genome sequencing (WGS) for the diagnosis of rare genetic and inherited disorders.
One of the most comprehensive genetic testing methods for DNA-based mutations, WGS can cover a wide range of mutation types including single nucleotide variants and indels in both coding and noncoding regions, copy number variants, structural variants, regions of absence of heterozygosity, and repeat expansion variants.
“For the past two decades, Baylor Genetics has been pioneering the field of diagnostics in medical genetics. Our mission is always to translate the state-of-the-art knowledge, concept, and technology from research into clinical diagnostic implementation,” says Pengfei Liu, Ph.D., Clinical Research Director of Baylor Genetics, and Assistant Professor of the Department of Molecular and Human Genetics at Baylor College of Medicine. “The technology of WGS has been utilized in the research field for a number of years. However, recent advancements in technology and informatics tools have lowered the sequencing cost and improved the mutation detection algorithms of WGS. We believe now it is the right time to introduce it to clinical use.”
“We have long-standing experience in clinically analyzing and interpreting each component in the spectrum of mutation types covered by whole genome sequencing,” said Christine Eng, MD, Chief Medical Officer and Chief Quality Officer of Baylor Genetics, and Professor and Vice Chair for Diagnostics of the Department of Molecular and Human Genetics at Baylor College of Medicine. “Our experts are also dedicating efforts to organically integrate the analysis and interpretation of different types of mutations potentially identified in whole genome sequencing, which we think is the key to exploit the full value of WGS.”
The analysis and interpretation of these different mutation types are integrated, and thus diagnoses of more complicated nature may be revealed. Moreover, WGS offers additional depth of results compared to WES and CMA, for example, interpretation of variants in non-coding regions, and accessibility to breakpoint junction sequences of copy number variants from structural variation analysis.
While WGS currently offers several detection types including single nucleotide variants, indels, copy number, and structural variants, the company states the next phase will include the detection of trinucleotide repeats and mitochondria variants available later this year further challenging other WGS tests on the market.
Learn more about Baylor Genetics’ Whole Genome Sequencing test here: https://www.baylorgenetics.com/whole-genome-sequencing/
About Baylor Genetics
Baylor Genetics is a joint venture of Miraca Holdings and the #1 NIH-funded genetics program at Baylor College of Medicine. A pioneer of precision medicine for nearly 40 years, Baylor Genetics now offers a full spectrum of clinically relevant genetic testing, access to world-renowned experts, and the confidence to provide patients with the best care.
Baylor Genetics, located in Houston’s Texas Medical Center, serves clients in 50 states and 16 countries.
Find out more from the website https://www.baylorgenetics.com/
Source: Baylor Genetics