Washington State Convention Center | Seattle
April 2-6 | Exhibit Dates: April 3-5
April 6 | ACMG/SIMD Joint Session

Baylor Genetics

Houston,  TX 
United States
http://www.baylorgenetics.com
  • Booth: 621

Profile

Baylor Genetics is a joint venture of Miraca Holdings, Inc. and Baylor College of Medicine, including the #1 NIH-funded Department of Molecular and Human Genetics. 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.


 Press Releases

  • FOR IMMEDIATE RELEASE

    Contact:

    Masele Ivey

    Baylor Genetics

    1.800.411.4363

    mivey@baylorgenetics.com

    www.baylorgenetics.com/news/

    Baylor Genetics Launches Clinical Whole Genome Sequencing

    HOUSTON, TX (Feb. 4, 2019)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.

    “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.”

    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.

    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.

    “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.”

    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/

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  • (713) 798-4710

    Houston, TX - 

    In 2017, Baylor Genetics introduced the first clinical non-invasive prenatal multigene sequencing screen, PreSeek™, to the commercial market. The Baylor College of Medicine and Baylor Genetics team that developed the technology has now released initial results of a clinical study evaluating its accuracy and utility. The study appears in Nature Medicine.

    Although traditional noninvasive prenatal screening tests detect genetic diseases associated with chromosomal abnormalities that increase in risk with advanced maternal age, PreSeek is the first noninvasive screening test in the United States to detect multiple dominant monogenic disorders that, although can occur at any time, become more prevalent with advanced paternal age. It is a complementary test to traditional prenatal screening tests, providing a more complete picture of the risk of genetic disorders by sequencing cell-free fetal DNA for pathogenic (disease-causing) or likely pathogenic variants associated with select single-gene conditions.

    Led by Dr. Jinglan Zhang, assistant professor of molecular and human genetics at Baylor College of Medicine, the PreSeek development team carefully selected genes by a thorough curation process focused on the detection of de novo (not inherited) variants in single-gene disorders affecting the skeletal, cardiac and neurological systems.

    “Many of the disorders detected by PreSeek are not typically associated with abnormal prenatal ultrasound findings or may not be evident until late second or third trimester or after delivery,” Zhang said. “Since PreSeek is recommended during the late first trimester or early second trimester, knowing whether a fetus has one of these significant and often devastating genetic disorders can prompt parents and their physicians to make timely decisions for further evaluation and management of the pregnancy.”

    For the initial clinical study, 422 pregnancies, with or without abnormal ultrasound findings or family history, were tested. Follow-up studies with available outcomes confirmed 20 true positive, 127 true negative, zero false positive and zero false negative results. Mean paternal age was 36.

    These results demonstrate that this noninvasive test can provide valuable molecular information for the detection of a wide spectrum of dominant monogenic diseases, complementing current screening for aneuploidies or carrier screening for recessive disorders.

    “Although we were becoming increasingly aware that new dominant mutations in certain genes are an important cause of early-onset genetic conditions, until this study, we could not offer non-invasive screening during pregnancy for a number of these at once in one single test. Based on the early results of this study, PreSeek is a safe and reliable option for evaluating pregnancies for their risks associated with more common dominant monogenic disorders,” said Dr. Ignatia Barbara Van den Veyver, director of prenatal and reproductive genetics and professor of obstetrics and gynecology and molecular and human genetics at Baylor College of Medicine and a coauthor of the paper. “This new non-invasive test provides valuable molecular information to maternal-fetal medicine specialists and genetics professionals allowing more comprehensive prenatal genetic testing.”

    In the future, the Baylor team will continue to evaluate the cost effectiveness of the test and follow the positive and negative cases to determine the clinical utility on a population basis.

    “PreSeek delves deeper than other noninvasive prenatal tests on the market and offers a new alternative,” added Dr. Christine Eng, chief medical officer at Baylor Genetics and professor and vice chair for diagnostics in the Department of Molecular and Human Genetics at Baylor College of Medicine. “We hope these initial results will increase awareness of the role of PreSeek in the expanding area of prenatal care and maternal-fetal medicine.”

    Visit the journal for a full list of contributors.