Bionano genomics, inc. announces key takeaways from presentations by saphyr users given between november 6-9 in baltimore at the annual meeting of the association for molecular pathology (amp) and the associated corporate workshop

Bionano genomics, inc. announced key takeaways from presentations by saphyr users given between november 6-9 in baltimore at the annual meeting of the association for molecular pathology (amp) and the associated corporate workshop. focusing on molecular diagnostics, quality health care through excellence in clinical molecular testing is at the core of amp. the association organizes an annual meeting to further its vision of providing global expertise in molecular testing that drives patient care. saphyr users chose amp as a venue to present updates to their findings using the saphyr system for a variety of disease indications: moffitt cancer center. a team of clinicians and scientists from the moffitt cancer center and bionano genomics, led by dr. anthony magliocco, m.d, of protean biodiagnostics, presented a study on hpv-positive ovarian tumors and two pairs of primary ovarian tumors with matched ascites. ascites is the abnormal build-up of fluid in the abdomen, which can be caused by an inflammatory reaction to metastatic cancer cells. bionano whole genome imaging demonstrated in pairs of primary ovarian tumors with matched ascites that primary tumors contained many more rearrangements and had an unstable copy number profile compared to the ascites, with very few shared aberrations. this observed difference could have important implications for treatment of ovarian cancer, since ascetic fluid is considered the primary route of metastasis and origin of recurrent disease, and it is possible that the less complex genome of ascetic fluid requires a different therapeutic approach than the complex primary tumor genome. md anderson cancer center. professor rashmi kanagal-shamanna, m.d., from the university of texas md anderson cancer center in houston, presented a validation study on the use of saphyr for the clinical assessment of patients with myelodysplastic syndromes, or mds. mds is a precursor for acute myeloid leukemia (aml), and the number and type of structural variation in the cancer genome has extreme predictive value on the median survival time, which varies from five years for genomes with a single reported variant to just over five months for those with more than three abnormalities. in a pilot study on 10 patient samples, saphyr identified 100% of all aberrations detected by karyotype and microarray analysis. dr. kanagal-shamanna stated that this exact concordance between bionano genome imaging and clinical diagnostic assays, and the high throughput of the saphyr instrument, make it a candidate single-platform assay for clinical diagnostics. dr. kanagal-shamanna discussed the planned expansion of the study to 100 mds cases with the goal of identifying new genomic aberrations that only saphyr can detect and that alter the risk or affect management of the disease. radboud university medical center, netherlands. a team led by professor alexander hoischen, ph.d, from radboud university medical center, presented an update on their ongoing validation of saphyr as a tool to replace fish, karyotyping and cnv-microarrays for the clinical analysis of leukemias and genetic disease. of the samples analyzed so far, saphyr identified all clinically relevant, previously reported aberrations observed using the three other technologies. they concluded that bionano genome imaging is capable of replacing most traditional cytogenetic tests.
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