Benzinga | Jan 12, 2021 09:02AM EST

Bionano Genomics Reports Day 1 Of Its 5-Day Next-Gen Cytogenomics Symposium Featured 6 Saphyr Users Presenting Results, Experiences With System

Bionano Genomics, Inc. (NASDAQ:BNGO) announced that day one of its five-day Next-Generation Cytogenomics Symposium featured six Saphyr users presenting their results and experiences using the Saphyr(r) system for optical genome mapping (OGM) to analyze the genomes of patients with genetic disease. The presentations by scientists and clinicians from leading hospitals and medical research institutions in Europe, the US and China discussed results on prenatal testing, infertility, and a wide variety of constitutional genetic disorders.

Ravindra Kolhe, MD, PhD, Vice-Chairman of Pathology at the Medical College of Georgia at Augusta University described his progress in developing a laboratory developed test (LDT) for prenatal testing with Saphyr as a confirmatory diagnostic test for positive NIPT tests. Results from his study showed 100% concordance between OGM and the current gold standard, the combination of karyotyping, fluorescent in-situ hybridization (FISH) and chromosomal microarray (CMA). In addition, he reported that Saphyr data yielded a substantial amount of clinically relevant insights that go beyond the results with traditional methods. Dr. Kolhe analyzed five samples at two separate locations to evaluate site-to-site reproducibility and optical genome mapping showed 100% inter-site, inter-operator and inter-instrument reproducibility, with 100% data concordance between the sites. He reported that LDTs developed on Saphyr have an advantage because of reduced hands-on time compared to conventional methods, faster turn-around time, lower cost compared to the combination of standard methods, and overall provide actionable information that is faster and less expensive.

Laila El Khattabi, PharmD PhD, Associate Professor at the University of Paris, presented on her previously published clinical validation study with Saphyr on 85 samples, a collaboration between three hospitals in France and one in the Netherlands. Her study consisted of patients with intellectual disability, infertility, a family history of genetic abnormalities, and prenatal samples. The 85 samples carried a total of 100 chromosomal abnormalities of various types. She concluded that Saphyr is 100% concordant with the combination of the standard cytogenetic tools, with an easier technical and analytical process, better resolution of breakpoints allowing for the identification of affected genes, and an easier interpretation because there is no overload of irrelevant sequence variants of unknown significance, which is common with sequencing.

Peter L. Nagy, MD, PhD, founder and CMO of Praxis Genomics explained how he uses Saphyr and next-generation sequencing instead of a long list of analytical techniques such as karyotyping, chromosomal microarray, gene and panel sequencing and repeat testing to achieve better and faster results. Dr. Nagy showed many examples of variants detected by Saphyr, including the expansion of a repeat in the DM1 gene that causes Myotonic Dystrophy, a severe muscle disease, and explained that the repeat can be so long that no other technology can provide the sizing accurately. In his study, Saphyr also detected the repeat expansion that causes Fragile X Syndrome. Currently, testing for Fragile X is recommended for all children with intellectual disability and requires a separate test, while Saphyr measures this repeat on all samples.

Minyue Dong, MD, PhD, Director of the Department of Reproductive Genetics at Zhejiang University in China, presented on a case of a family with two pregnancies in which the fetuses showed severe brain malformations. Exome sequencing found a variant inherited from the father, but that finding alone couldn't explain the disease. Saphyr found a tandem duplication disrupting the same LAMA1 gene, inherited from the mother. Both variants combined disrupt both copies of the gene, causing the disease.

Dr. Hayk Barseghyan, Professor at George Washington University in Washington, DC, uses Saphyr at Children's National Hospital to study patients with Disorders of Sex Development and other undiagnosed genetic disease. Dr. Barseghyan presented on six cases solved with Saphyr, some including structural variants that had never before been reported in any genomic variant database. His work was an excellent example of how OGM with Saphyr may result in more patients receiving definitive diagnoses and more patients being managed effectively as the result of a higher diagnostic yield with Saphyr.

The symposium continues throughout the week. The full schedule of speakers and registration access is available at http://bit.ly/3pLPT28