Children's Mercy Kansas City First Pediatric Hospital To Use Optical Genome Mapping In The Clinical Setting


(MENAFN- EIN Presswire) KANSAS CITY, MO, UNITED STATES, September 5, 2024 /EINPresswire / -- Children's Mercy Kansas City, a leading independent children's health organization, announced it is the first pediatric hospital in the U.S. to clinically launch Optical Genome Mapping (OGM), an advanced digitized technology that enhances the detection of genetic abnormalities.

Using the Saphyr instrument developed by Bionano Genomics, Children's Mercy is able to combine the capabilities of traditional cytogenetic testing including FISH, karyotyping, and microarray into a single, more efficient test by transforming lengthy DNA segments into distinct barcodes, that offer a more detailed and precise assessment of genomic structural variation.

“This cutting-edge technology has proven instrumental in diagnosing genetic disorders and cancers by identifying structural variants that standard of care tests may overlook,” said Carol Saunders, PhD, FACMG, Division Director, Clinical Genetics and Genomics, Children's Mercy Kansas City.“Its application in the pediatric clinical setting allows us to enhance our understanding of complex diseases and identify genetic abnormalities that can help guide treatment plans.”

The team validated OGM by analyzing over 60 samples previously tested in the Clinical Genetics and Genomics Laboratory at Children's Mercy.

John Herriges, PHD, FACMG, Assistant Director of the Cytogenetic Laboratory at Children's Mercy led the validation project using OGM predominantly for bone marrow disorders, such as leukemia, with promising results.

“Many leukemias are defined by the presence of cytogenetic rearrangements. The technology's ability to identify these rearrangements goes beyond what traditional cytogenetic technologies can do and allows us to identify novel rearrangements, which will lead to a better classification of our patient's leukemias and hopefully improve patient outcomes,” said Dr. Herriges.

Children's Mercy hopes to expand the application to solid tumors and spearhead collaborative data sharing with other pediatric institutions underscoring its commitment to pioneering pediatric genomics and shaping the future of cancer treatment for children.

“As one of the first pediatric hospitals to adopt this technology, Children's Mercy is at the forefront of enhancing our ability to understand and treat genetic conditions, offering hope and advanced care to young patients and their families,” said Dr. Saunders.

Children's Mercy Kansas City
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Marlene Bentley

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