Bionano Announces Publication from Johns Hopkins School of Medicine Showing that OGM Outperformed Multiple Cytogenetic Assays in a Study of Bone and Soft Tissue Tumor Analysis
Bionano Genomics (BNGO) announced a significant publication in Modern Pathology by Johns Hopkins researchers, demonstrating that Optical Genome Mapping (OGM) outperformed traditional cytogenetic techniques in bone and soft tissue tumor analysis. The study showed that OGM achieved 100% concordance with conventional methods while detecting additional pathogenic variants in 74% of cases that failed or were negative by karyotyping.
The research revealed that combining OGM with next-generation sequencing (NGS) detected pathogenic variants in approximately 98% of cases, significantly higher than traditional methods. OGM successfully resolved complex cancer genomes and identified variants that could qualify patients for targeted therapies, including CDK4/6 inhibitors and TRK inhibitors.
Bionano Genomics (BNGO) ha annunciato una pubblicazione significativa su Modern Pathology da parte di ricercatori della Johns Hopkins, dimostrando che l'Optical Genome Mapping (OGM) ha superato le tecniche citogenetiche tradizionali nell'analisi dei tumori ossei e dei tessuti molli. Lo studio ha mostrato che l'OGM ha raggiunto una concordanza del 100% con i metodi convenzionali, rilevando varianti patogene aggiuntive nel 74% dei casi che erano risultati negativi o non conclusivi tramite kariotipo.
La ricerca ha rivelato che la combinazione dell'OGM con il sequenziamento di nuova generazione (NGS) ha identificato varianti patogene in circa il 98% dei casi, significativamente superiore ai metodi tradizionali. L'OGM ha risolto con successo genomi tumorali complessi e ha identificato varianti che potrebbero qualificare i pazienti per terapie mirate, inclusi inibitori di CDK4/6 e inibitori di TRK.
Bionano Genomics (BNGO) anunció una publicación significativa en Modern Pathology por investigadores de Johns Hopkins, demostrando que el Mapeo Óptico del Genoma (OGM) superó a las técnicas citogenéticas tradicionales en el análisis de tumores óseos y de tejidos blandos. El estudio mostró que el OGM logró una concordancia del 100% con los métodos convencionales mientras detectaba variantes patogénicas adicionales en el 74% de los casos que resultaron fallidos o negativos por cariotipificación.
La investigación reveló que combinar OGM con secuenciación de nueva generación (NGS) detectó variantes patogénicas en aproximadamente el 98% de los casos, significativamente más alto que los métodos tradicionales. OGM resolvió con éxito genomas cancerosos complejos e identificó variantes que podrían calificar a los pacientes para terapias dirigidas, incluidos inhibidores de CDK4/6 e inhibidores de TRK.
Bionano Genomics (BNGO)는 Johns Hopkins 연구자들이 발표한 Modern Pathology에서 중요한 출판물을 발표했으며, 광학 유전체 매핑(OGM)이 뼈와 연조직 종양 분석에서 전통적인 세포유전학적 기법보다 성능이 우수하다는 것을 보여주었습니다. 연구 결과 OGM은 전통적인 방법과 100%의 일치율을 기록했으며, 세포형 분석에서 실패하거나 음성으로 나온 74%의 사례에서 추가적인 병원성 변이를 발견했습니다.
연구는 OGM과 차세대 시퀀싱(NGS)을 결합했을 때 약 98%의 사례에서 병원성 변이를 탐지했으며, 이는 전통적인 방법보다 훨씬 높은 수치입니다. OGM은 복잡한 암 유전체를 성공적으로 해소하고 CDK4/6 억제제 및 TRK 억제제를 포함한 표적 치료를 받을 수 있는 환자를 위한 변이를 식별했습니다.
Bionano Genomics (BNGO) a annoncé une publication significative dans Modern Pathology par des chercheurs de Johns Hopkins, démontrant que le Mappage Optique du Génome (OGM) a surpassé les techniques cytogénétiques traditionnelles dans l'analyse des tumeurs osseuses et des tissus mous. L'étude a montré que l'OGM a atteint une concordance de 100% avec les méthodes conventionnelles tout en détectant des variantes pathogènes supplémentaires dans 74% des cas qui avaient échoué ou été négatifs par caryotypage.
La recherche a révélé que la combinaison de l'OGM avec le séquençage de nouvelle génération (NGS) a détecté des variantes pathogènes dans environ 98% des cas, ce qui est significativement plus élevé que les méthodes traditionnelles. L'OGM a réussi à résoudre des génomes tumoraux complexes et à identifier des variantes qui pourraient qualifier les patients pour des thérapies ciblées, y compris les inhibiteurs de CDK4/6 et les inhibiteurs de TRK.
Bionano Genomics (BNGO) hat eine bedeutende Veröffentlichung in Modern Pathology von Forschern der Johns Hopkins vorgestellt, die zeigt, dass Optical Genome Mapping (OGM) traditionelle zytogenetische Techniken bei der Analyse von Knochen- und Weichteiltumoren übertroffen hat. Die Studie zeigte, dass OGM eine 100%ige Übereinstimmung mit konventionellen Methoden erreichte, während es zusätzliche pathogenetische Varianten in 74% der Fälle entdeckte, die bei der Karyotypisierung negativ oder fehlgeschlagen waren.
Die Forschung ergab, dass die Kombination von OGM mit Next-Generation Sequencing (NGS) in etwa 98% der Fälle pathogenetische Varianten entdeckte, was signifikant höher ist als bei traditionellen Methoden. OGM hat komplexe Krebsgenome erfolgreich entschlüsselt und Varianten identifiziert, die Patienten für zielgerichtete Therapien qualifizieren könnten, einschließlich CDK4/6-Inhibitoren und TRK-Inhibitoren.
- 100% detection rate of variants found by standard cytogenetic techniques
- Detected additional pathogenic variants in 74% of cases that failed traditional methods
- 98% detection rate of pathogenic variants when combined with NGS
- Findings enable qualification for targeted therapies that would otherwise be missed
- Successfully resolved complex cancer genomes in cases where traditional methods struggled
- None.
Insights
This groundbreaking study from Johns Hopkins represents a significant advancement in cancer diagnostics. The research demonstrates that OGM detected pathogenic variants in
The ability to identify therapeutic targets for CDK4/6 inhibitors, TRK inhibitors and pan-FGFR inhibitors directly impacts treatment pathways. The superior resolution of complex genomic rearrangements, including chromoanagenesis in
For investors, this advancement could significantly expand BNGO's market penetration in solid tumor diagnostics, particularly given that approximately half of bone and soft tissue tumor samples currently fail to yield actionable information through traditional methods.
The implications for BNGO's market position are substantial. With a current micro-cap status (market cap:
The ability to qualify patients for targeted therapies represents a important competitive advantage, as it directly ties diagnostic capabilities to treatment decisions. This positions BNGO's technology as an essential tool in the growing precision medicine landscape, potentially driving both clinical adoption and reimbursement coverage.
- In the largest study to date of bone and soft tissue tumors, OGM detected
100% of the variants found by multiple standard techniques, including karyotyping, fluorescent in-situ hybridization (FISH) & gene fusion assays - OGM was also more sensitive, including detection of diagnostic or pathogenic variants missed by karyotype in
74% (14/19) of cases that failed or were negative by karyotyping - When OGM results and next-generation sequencing (NGS) results were combined, diagnostic and pathogenic structural variants (SVs), copy number variants (CNVs), and/or single nucleotide variants (SNVs) were found in ~
98% of cases, a substantially greater rate than when karyotyping, FISH and NGS are used
SAN DIEGO, Dec. 23, 2024 (GLOBE NEWSWIRE) -- Bionano Genomics, Inc. (Nasdaq: BNGO) today announced a publication in Modern Pathology by a group of researchers at the Johns Hopkins University School of Medicine, showing that optical genome mapping (OGM) can outperform traditional techniques in analysis of bone and soft tissue tumors. Several prior publications have shown the utility of OGM compared to traditional cytogenetics in studies of hematologic malignancies, however, data on the application of OGM in solid tumors has been relatively sparse. This study provides compelling support for extending the utility of OGM in cancer beyond hematologic malignancies to solid tumors.
Key findings:
- OGM detected all variants revealed by conventional cytogenetics: OGM showed
100% concordance, identifying all pathogenic variants detected by standard of care cytogenetic methods. The specificity of OGM was assessed to be100% , i.e. OGM correctly identified the same pathogenic SVs and CNVs detected by standard of care/routine cytogenetics (karyotyping and FISH). - OGM detected pathogenic variants missed by karyotyping: In
74% of cases with normal or failed karyotype, OGM detected diagnostic or pathogenic SVs that were missed by karyotyping. Further, in 6 cases that failed to yield any karyotyping results due to culture failure, OGM detected pathogenic SVs in all of them. Variants found by OGM but missed by standard of care included the EWSR1::ETV1 fusion, which is a key molecular hallmark of clear cell sarcoma and helps to differentiate it from other soft tissue sarcomas and melanomas. - OGM resolved complex cancer genomes: Study authors found that OGM data could re-characterized and better defined complex structural rearrangements including chromoanagenesis in
27% of cases and complex 3-6-way translocations in15% of cases when compared to traditional cytogenetic methods. - OGM combined with NGS found pathogenic variants in
98% of cases, a substantially greater rate than when karyotyping, FISH and NGS are used: The integrated approach of the combination of OGM and NGS resulted in the detection of pathogenic SVs and sequence variants in ~98% of cases. OGM was100% concordant with NGS for aneuploidy detection. - OGM findings have the potential to qualify subjects for targeted therapies that otherwise would not have been possible: The authors state that several of the OGM findings could result in the potential for these cases to qualify for either targeted treatments or clinical trials. For example, cases with potential to be treated by CDK4/6 inhibitors (palbociclib, ribociclib, abemaciclib), TRK inhibitors (larotrectinib, entrectinib), pan-FGFR inhibitors (erdafitinib or futibatinib) were highlighted.
Erik Holmlin, president and chief executive officer of Bionano commented, “Approximately
The full research publication is available at: https://doi.org/10.1016/j.modpat.2024.100684
About Bionano
Bionano is a provider of genome analysis solutions that can enable researchers and clinicians to reveal answers to challenging questions in biology and medicine. The Company’s mission is to transform the way the world sees the genome through optical genome mapping (OGM) solutions, diagnostic services and software. The Company offers OGM solutions for applications across basic, translational and clinical research. The Company also offers an industry-leading, platform-agnostic genome analysis software solution, and nucleic acid extraction and purification solutions using proprietary isotachophoresis (ITP) technology. Through its Lineagen, Inc. d/b/a Bionano Laboratories business, the Company also offers OGM-based diagnostic testing services.
For more information, visit www.bionano.com or www.bionanolaboratories.com.
Bionano’s products are for research use only and not for use in diagnostic procedures.
Forward-Looking Statements of Bionano Genomics
This press release contains forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995. Words such as “can,” “could,” “potential,” and similar expressions (as well as other words or expressions referencing future events, conditions or circumstances) convey uncertainty of future events or outcomes and are intended to identify these forward-looking statements. Forward-looking statements include statements regarding our intentions, beliefs, projections, outlook, analyses or current expectations concerning, among other things, OGM’s utility for applications in bone and soft tissue cancers; OGM’s ability to detect SVs and CNVs concordant with traditional cytogenetic methods, including karyotyping and FISH; OGM’s ability to detect SVs and CNVs not detected with transitional cytogenetic methods; the utility and ability of OGM to detect diagnostically relevant or pathogenic SVs and CNVs; the ability of OGM and NGS in combination to detect more SVs than when combining karyotyping, FISH and NGS; the potential for OGM to be useful in qualifying subjects for targeted therapies or clinical trials; the utility of OGM for uses described in the publication referenced in this press release; the ability of OGM to re-characterized and better defined complex structural rearrangements when compared to traditional cytogenetic methods; OGM’s ability and utility for adoption across a wider spectrum of cancers including blood, bone and soft tissue cancers and the increase in adoption and utilization as an alternative to traditional cytogenetic methods; the utility of OGM for applications in areas reported in this press release; and other statements that are not historical facts. Each of these forward-looking statements involves risks and uncertainties. Actual results or developments may differ materially from those projected or implied in these forward-looking statements. Factors that may cause such a difference include the risks and uncertainties associated with: global and macroeconomic events, such as recent and potential bank failures, supply chain disruptions, global pandemics, inflation, and the ongoing conflicts between Ukraine and Russian and Israel and Hamas, on our business and the global economy; general market conditions; changes in the competitive landscape and the introduction of competitive technologies or improvements to existing technologies; the failure of OGM to prove useful for applications in bone and soft tissue cancers; the failure of OGM to detect SVs concordant with traditional cytogenetic methods, including karyotyping and FISH; the failure of OGM to detect SVs and CNVs not detected with transitional cytogenetic methods; the failure of OGM to detect diagnostically relevant or pathogenic SVs and CNVs; the failure of OGM to prove useful for applications described in the publication referenced in this press release; the failure of OGM to be more widely adopted across a wider spectrum of cancers including blood, bone and soft tissue cancers and the increase in adoption and utilization as an alternative to traditional cytogenetic methods; the failure of OGM and NGS in combination to detect more SVs than when combining karyotyping, FISH and NGS; the failure of OGM to be useful in qualifying subjects for targeted therapies or clinical trials; the failure of OGM to prove useful for applications in areas reported in this press release; the failure of OGM to re-characterized and better defined complex structural rearrangements when compared to traditional cytogenetic methods future publications that contradict the findings of the publication referenced in this press release; changes in our strategic and commercial plans; our ability to obtain sufficient financing to fund our strategic plans and commercialization efforts; our ability to effectively manage our uses of cash, and our ability to continue as a “going concern”; the ability of medical and research institutions to obtain funding to support adoption or continued use of our technologies; and the risks and uncertainties associated with our business and financial condition in general, including the risks and uncertainties described in our filings with the Securities and Exchange Commission, including, without limitation, our Annual Report on Form 10-K for the year ended December 31, 2023 and in other filings subsequently made by us with the Securities and Exchange Commission. All forward-looking statements contained in this press release speak only as of the date on which they were made and are based on management’s assumptions and estimates as of such date. We do not undertake any obligation to publicly update any forward-looking statements, whether as a result of the receipt of new information, the occurrence of future events or otherwise.
CONTACTS
Company Contact:
Erik Holmlin, CEO
Bionano Genomics, Inc.
+1 (858) 888-7610
eholmlin@bionano.com
Investor Relations:
David Holmes
Gilmartin Group
+1 (858) 888-7625
IR@bionano.com
FAQ
What success rate did BNGO's OGM achieve in detecting variants compared to traditional methods?
How much did BNGO's OGM improve variant detection in failed karyotype cases?
What detection rate did BNGO's OGM achieve when combined with NGS?
What therapeutic implications were identified in BNGO's OGM study?
How did BNGO's OGM perform in analyzing complex cancer genomes?
