Providing Access to Genetic Testing Alongside Unparalleled Service and Support

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Megan Martin
Megan Martin

Megan Martin She is a Certified Genetic Counselor who joined the Clinical Services team in 2011. Over the years, her role has evolved into overseeing the clinical services team, providing guidance on process optimization, new technologies, genetic data interpretation, insurance advocacy and industry trends. . Megan received her Bachelor of Science in Molecular Cell Biology from the University of California, Dominican Republic and her Master of Science in Genetic Counseling from the University of Utah.

IPM: What is the mission of Bionano Laboratories?

As an integral part of our parent company, Bionano Genomics, we at Bionano Laboratories share the corporate mission of advancing the way they see genomes by providing healthcare providers, researchers and industry partners with innovative testing solutions designed to advance genetic testing applications.

IPM: What laboratory testing services are currently offered through Bionano Labs?

At Bionano Laboratories, we combine advanced diagnostic technologies with unmatched service and support to ensure your patients receive best-in-class tests. Our guideline-based testing menu includes chromosomal microarrays, Fragile X testing, whole exome sequencing, a 244-gene epilepsy panel, complete mitochondrial DNA analysis, and a pharmacogenetics panel. We pride ourselves on providing comprehensive clinical support that includes an unlimited complementary service of genetic counselors and a detailed report with relevant evidence.

We also offer our clients a research project to analyze samples by Optical Genome Mapping (OGM). This method reveals genome-wide structural variants in a non-discriminatory manner and with higher sensitivity than sequence-based technologies and current cytogenetic techniques.

IPM: What effect does OGM have on structural diversity detection?

As genetic counselors, we are aware of the structural differences that can be detected through traditional cytogenetic techniques such as karyotyping and fluorescence in situ hybridization (FISH) assays. Powered by Bionano’s Saphyr™ genome-mapping system, OGM can identify all components of structural variation by observing changes in DNA tag spacing and comparing the order, position, and location of tag patterns. In several peer-reviewed studies, OGM has detected more pathogenic and actionable cytogenetic abnormalities with higher resolution and a less subjective, more accurate, efficient and comprehensive approach compared to traditional methods.

Earlier this year, Bionano Laboratories received CLIA certification for customers looking to implement OGM into their diagnostic processes and for projects with hospitals, pharmaceutical companies and other entities that may desire a stronger regulatory framework. For clinicians, Bionano Laboratories now offers FSHD1 clinical tests through OGM to identify the D4Z4 regions duplicated on 4q35 in the 4qA allele. This test can now be ordered directly through our website or by contacting one of our representatives.

IPM: How can genetic counselors learn more about Bionano Laboratories and OGM?

We recently had the opportunity to participate in several great talks at the National Society of Genetic Counselors Annual Conference introducing Bionano Genomics and Bionano Laboratories to the genetic counseling community. We also presented five posters covering topics such as our pharmacogenetic testing service, a joint poster with Baylor College of Medicine on RUGD, and OGM for heme malignancies.

As soon as early 2023, genetic counselors will have the opportunity to join the Bionano Virtual Symposium on January 23–26 to present OGM users and enthusiasts from around the world using OGM for applications such as hematological malignancies, genetic diseases and bioprocessing.

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