Providing Access to Genetic Testing Alongside Unparalleled Service and Support

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Megan Martin 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 while providing guidance around process optimization, emerging technologies, genetic data interpretation, insurance advocacy, and industry trends. Megan received her Bachelor of Science in molecular cell biology from Dominican University of California and a 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 you see the genome by offering innovative testing solutions designed to advance genetic testing applications for health care providers, researchers, and industry partners.

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

At Bionano Laboratories, we combine advanced diagnostic technologies with unparalleled service and support so your patients can access best-in-class testing. Our guideline-based testing menu includes chromosomal microarray, Fragile X testing, whole exome sequencing, a 244-gene epilepsy panel, whole mitochondrial DNA analysis, and a pharmacogenetics panel. We pride ourselves on offering comprehensive clinical support, which includes unlimited complimentary access to genetic counselors and detailed reporting with comprehensive evidence referenced.

We also provide customers the ability to execute a research project to analyze samples with optical genome mapping (OGM). This method detects genome-wide structural variations in an unbiased manner and at much higher sensitivities than sequencing-based technologies and current cytogenetic techniques.

IPM: What impact will OGM have on structural variant detection?

As genetic counselors, we are familiar with structural variation found through traditional cytogenetic techniques such as karyotyping and fluorescence in situ hybridization (FISH) assays. OGM, performed by Bionano’s Saphyr genome-mapping system, can identify all classes of structural variation by observing changes in DNA label spacing and comparisons of order, position, and orientation of label patterns. In several peer-reviewed studies, OGM detected more pathogenic and actionable cytogenetic abnormalities with higher resolution and less subjectivity, in a more accurate, efficient, and comprehensive approach when compared to the classical methods.

Earlier this year, Bionano Laboratories received CLIA certification to offer services to customers seeking to implement OGM into their diagnostic routines and for research applications with hospitals, pharmaceutical companies, and other parties that may desire a more robust regulatory structure for their projects. For clinicians, Bionano Laboratories now offers clinical testing of FSHD1 through OGM to detect the repeats of the D4Z4 regions at 4q35 in the presence of a 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?

Recently at the National Society of Genetic Counselors annual conference, we had the opportunity to participate in many great conversations introducing Bionano Genomics and Bionano Laboratories to the genetic counseling community. We also exhibited five posters that covered topics such as our pharmacogenetic testing services, research on RUGD through a joint poster with Baylor College of Medicine, and OGM for heme malignancies.

Coming soon in early 2023, genetic counselors will have the opportunity to join Bionano’s virtual symposium on January 23–26 where OGM users and enthusiasts from around the globe will present on use of OGM for applications such as hematological malignancies, genetic diseases, and bioprocessing.

For more information about the testing and services offered by Bionano Laboratories visit: www.bionanolaboratories.com

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