Bionano Announces Publication Showing OGM can Provide an Accurate and Cost-Effective Solution for Sizing Large Repeat Expansions in Constitutional Genetic Disease
Bionano Genomics (BNGO) has published a peer-reviewed study in Genome Research demonstrating the effectiveness of optical genome mapping (OGM) in detecting large repeat expansions linked to genetic disorders. The research, conducted at Radboud University Medical Center, evaluated 85 subjects with known pathogenic expansions in three genes associated with myotonic dystrophy and CANVAS syndrome.
The study revealed key findings:
- 98.8% detection accuracy (84 out of 85 cases)
- Accurate measurement of repeat sizes, even exceeding 7,000 units
- Detection of somatic instability in 36 out of 85 samples
- Single comprehensive assay capability across multiple loci
The research suggests OGM could provide a more cost-effective and efficient alternative to traditional methods like PCR, Southern blotting, and next-generation sequencing for analyzing repeat expansions in genetic disorders.
Bionano Genomics (BNGO) ha pubblicato uno studio peer-reviewed su Genome Research che dimostra l'efficacia della mappatura ottica del genoma (OGM) nell'individuare grandi espansioni di ripetizioni associate a disturbi genetici. La ricerca, condotta presso il Radboud University Medical Center, ha valutato 85 soggetti con espansioni patogeniche note in tre geni correlati alla distrofia miotonica e alla sindrome CANVAS.
Lo studio ha evidenziato risultati chiave:
- 98,8% di accuratezza nel rilevamento (84 casi su 85)
- Misurazione precisa delle dimensioni delle ripetizioni, anche oltre 7.000 unità
- Rilevamento di instabilità somatica in 36 campioni su 85
- Capacità di un test unico e completo su più loci
La ricerca suggerisce che l’OGM potrebbe rappresentare un’alternativa più economica ed efficiente rispetto ai metodi tradizionali come PCR, Southern blotting e sequenziamento di nuova generazione per l’analisi delle espansioni di ripetizioni nei disturbi genetici.
Bionano Genomics (BNGO) ha publicado un estudio revisado por pares en Genome Research que demuestra la efectividad del mapeo óptico del genoma (OGM) para detectar grandes expansiones repetitivas vinculadas a trastornos genéticos. La investigación, realizada en el Radboud University Medical Center, evaluó a 85 sujetos con expansiones patogénicas conocidas en tres genes asociados con la distrofia miotónica y el síndrome CANVAS.
El estudio reveló hallazgos clave:
- Precisión del 98,8% en la detección (84 de 85 casos)
- Medición precisa del tamaño de las repeticiones, incluso superiores a 7.000 unidades
- Detección de inestabilidad somática en 36 de 85 muestras
- Capacidad de un ensayo único y completo en múltiples loci
La investigación sugiere que el OGM podría ser una alternativa más rentable y eficiente frente a métodos tradicionales como PCR, Southern blotting y secuenciación de nueva generación para analizar expansiones repetitivas en trastornos genéticos.
Bionano Genomics (BNGO)는 Genome Research에 동료 검토를 거친 연구를 발표하여 광학 유전체 매핑(OGM)이 유전 질환과 관련된 대규모 반복 확장을 감지하는 데 효과적임을 입증했습니다. 이 연구는 Radboud University Medical Center에서 수행되었으며, 근이영양증과 CANVAS 증후군과 관련된 세 유전자의 병원성 확장이 알려진 85명의 대상자를 평가했습니다.
연구는 주요 결과를 밝혔습니다:
- 98.8%의 검출 정확도(85건 중 84건)
- 7,000단위를 초과하는 반복 크기까지 정확한 측정
- 85개 샘플 중 36개에서 체세포 불안정성 감지
- 여러 유전자 위치를 아우르는 단일 종합 검사 가능
이 연구는 OGM이 유전 질환의 반복 확장 분석에 있어 PCR, Southern blotting, 차세대 염기서열 분석과 같은 전통적인 방법보다 비용 효율적이고 효율적인 대안이 될 수 있음을 시사합니다.
Bionano Genomics (BNGO) a publié une étude évaluée par des pairs dans Genome Research démontrant l'efficacité du cartographie optique du génome (OGM) pour détecter de grandes expansions répétées liées à des troubles génétiques. La recherche, menée au Radboud University Medical Center, a évalué 85 sujets présentant des expansions pathogènes connues dans trois gènes associés à la dystrophie myotonique et au syndrome CANVAS.
Cette étude a révélé des résultats clés :
- Précision de détection de 98,8 % (84 cas sur 85)
- Mesure précise des tailles de répétitions, même au-delà de 7 000 unités
- Détection d'instabilité somatique dans 36 échantillons sur 85
- Capacité d'un test unique et complet sur plusieurs loci
La recherche suggère que l’OGM pourrait offrir une alternative plus rentable et efficace aux méthodes traditionnelles telles que la PCR, le Southern blotting et le séquençage nouvelle génération pour l’analyse des expansions répétées dans les troubles génétiques.
Bionano Genomics (BNGO) hat eine peer-reviewed Studie in Genome Research veröffentlicht, die die Wirksamkeit der optischen Genomkartierung (OGM) bei der Erkennung großer Repeat-Expansionen, die mit genetischen Erkrankungen in Verbindung stehen, zeigt. Die Forschung, durchgeführt am Radboud University Medical Center, bewertete 85 Probanden mit bekannten pathogenen Expansionen in drei Genen, die mit Myotonischer Dystrophie und dem CANVAS-Syndrom assoziiert sind.
Die Studie zeigte wichtige Ergebnisse:
- 98,8% Erkennungsgenauigkeit (84 von 85 Fällen)
- Präzise Messung der Repeats-Größen, selbst über 7.000 Einheiten hinaus
- Nachweis somatischer Instabilität in 36 von 85 Proben
- Einzelner umfassender Test über mehrere Loci
Die Forschung legt nahe, dass OGM eine kostengünstigere und effizientere Alternative zu traditionellen Methoden wie PCR, Southern Blotting und Next-Generation-Sequencing für die Analyse von Repeat-Expansionen bei genetischen Erkrankungen darstellen könnte.
- High accuracy rate of 98.8% in detecting pathogenic repeat expansions
- Technology demonstrates capability to measure extremely long expansions (>7,000 repeat units)
- Single comprehensive assay potential reduces costs and turnaround time compared to traditional methods
- Publication in prestigious peer-reviewed journal (Genome Research) validates technology
- Technology missed detection in 1 out of 85 cases (1.2% failure rate)
Insights
Peer-reviewed study validates OGM's 98.8% accuracy for detecting repeat expansions linked to genetic disorders, demonstrating technical capabilities for clinical applications.
This peer-reviewed publication in Genome Research provides substantial validation for Bionano's optical genome mapping (OGM) technology in addressing a clinically significant challenge: accurately detecting and sizing repeat expansions associated with genetic disorders. The study's findings are technically impressive, showing 98.8% detection accuracy (84/85 samples) across three important disease-associated genes.
What's particularly notable is OGM's ability to measure extremely long expansions (exceeding 7,000 repeat units) without an apparent upper size limit - a significant technical achievement. The technology also revealed somatic instability in 42.3% of samples, with varying rates across different genes (30% DMPK, 92% CNBP, 16% RFC1), providing new insights into these disorders' variable expressivity.
From a technical perspective, the "single technique workflow" approach represents an important advantage over current methodologies requiring multiple gene-specific assays. Large repeat expansions have been notoriously difficult to analyze with conventional methods like PCR, Southern blotting and next-generation sequencing, creating a diagnostic gap that OGM appears well-positioned to address.
The technology's inclusion alongside other studies in Genome Research's special issue on long-read methods, with specific editorial mention, indicates growing recognition within the scientific community of OGM's utility for complex genomic analysis challenges.
Scientific validation of OGM expands potential market applications to 40+ repeat expansion disorders, strengthening Bionano's position in genetic testing marketplace.
This publication represents significant scientific validation for Bionano's core technology platform in a specific clinical application area with substantial market potential. Repeat expansions are linked to approximately 40 genetic disorders, creating a distinct market segment where OGM technology appears to offer technical advantages.
The demonstrated ability to provide a single, comprehensive assay across multiple genetic loci could translate to operational efficiencies in clinical genetics laboratories. While specific cost comparisons aren't detailed in the article, the potential for reduced turnaround time and lower costs through workflow consolidation represents a compelling value proposition in the resource-constrained diagnostics environment.
The publication's connection of OGM to addressing "long-standing challenges in genome analysis" positions the technology as a potential solution to recognized industry problems. The acknowledgment from Genome Research editors enhances the technology's credibility and could accelerate research adoption.
For Bionano specifically, this validation in repeat expansion detection diversifies the clinical utility of their platform beyond traditional cytogenetic applications, potentially expanding their addressable market. While the path from research validation to clinical implementation involves additional regulatory and commercial hurdles, this publication strengthens Bionano's scientific foundation in genetic testing.
SAN DIEGO, April 23, 2025 (GLOBE NEWSWIRE) -- Bionano Genomics, Inc. (Nasdaq: BNGO) today announced a peer-reviewed publication in Genome Research demonstrating that optical genome Mapping (OGM) can be an accurate, cost-effective method for detecting and sizing large repeat expansions, which are a class of structural variation (SV) linked to as many as 40 genetic disorders. Led by Alexander Hoischen and researchers at Radboud University Medical Center in the Netherlands, the study provides one of the most comprehensive evaluations to date of OGM as a single workflow for characterizing large repeat expansions. Researchers evaluated 85 subjects containing known pathogenic expansions in three genes, DMPK (associated with myotonic dystrophy (DM) type 1), CNBP (associated with DM type 2), and RFC1 (associated with cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS)). DM is a genetic condition causing progressive muscle weakness and wasting, affecting both skeletal and smooth muscles and CANVAS is a genetic condition characterized by progressive loss of coordination, sensory nerve damage, and impaired balance reflexes.
Key Findings:
- High detection accuracy: OGM identified 84 out of 85 (
98.8% ) pathogenic repeat expansions. - No apparent upper size limit: OGM measured accurately the repeat sizes, even for extremely long expansions exceeding 7,000 repeat units.
- Somatic instability revealed: Evidence of somatic instability in 36 out of 85 samples, with variability observed in
30% of DMPK samples,92% of CNBP samples, and16% of RFC1 samples. These findings provide new insights into the unpredictable nature of these disorders. - Single technique workflow: Unlike traditional methods that require multiple gene-specific assays, OGM delivers a single, comprehensive assay that detects large repeat expansions across multiple loci, potentially reducing turnaround times and lowering costs.
This publication appears alongside two other OGM studies in Part II of a series released by Genome Research focusing on long-read methods such as OGM and long-read sequencing (LRS) for genome analysis. In an accompanying editorial, the editors of the series describe how OGM has the potential to address long-standing challenges in genome analysis, from structural variation to paralog resolution and repeat expansion detection, sizing and evaluation of their somatic instability.
“Repeat expansions are a clinically relevant class of structural variations (SVs). Their size, stability and variability make them challenging to analyze using conventional methods such as PCR, Southern blotting and next-generation sequencing (NGS). LRS may be useful, but LRS can be too costly for routine use,” commented Erik Holmlin, president and CEO of Bionano. “This study demonstrates how can OGM address a critical limitation in genome analysis and lays the foundation for researchers around the world to broaden their scope of OGM use in research to include this class of SVs, which we believe may pave the way for future development of better diagnostics and therapeutics for genetic diseases like repeat expansion disorders.”
The full research publication is available at: https://genome.cshlp.org/content/early/2025/03/19/gr.279491.124.full.pdf+html
The editorial accompanying the special issue of Genome Research is available at:
https://genome.cshlp.org/content/35/4/xi.full.pdf+html
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 “believe,” “can,” “may,” “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 describe future expectations, plans, results, or strategies, among other things, and in this release include, but are not limited to, statements OGM’s ability to be an accurate, cost-effective method for detecting and sizing large repeat expansions; OGM’s ability to identify pathogenic repeat expansions; OGM’s ability to measure accurately expansion sizes, even for extremely long expansions; OGM’s ability to show evidence of somatic instability; OGM’s ability to deliver a single, comprehensive assay that detects large repeat expansions across multiple loci, reducing turnaround times and lowering costs; the ability of OGM to address critical limitations in genomics analysis; the ability of OGM to pave the way for future development of better diagnostics and therapeutics for genetic diseases like repeat expansion disorders; and other statements not of historical fact. Such statements are subject to a multitude of risks and uncertainties that could cause future circumstances, events, or results to differ materially from those projected in the forward-looking statements. 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 impact of adverse geopolitical and macroeconomic events, such as bank failures, the ongoing conflicts between Ukraine and Russia and in the Middle East and related sanctions, regional or global pandemics, uncertain market conditions, including tariffs and inflation, and supply chain disruptions on our business and the global economy; the failure of OGM to be an accurate, cost-effective method for detecting and sizing large repeat expansions; the failure of OGM to identify pathogenic repeat expansions; the failure of OGM to measure accurately expansion sizes, even for extremely long expansions; the failure of OGM to show evidence of somatic instability; the failure of OGM to deliver a single, comprehensive assay that detects large repeat expansions across multiple loci, reducing turnaround times and lowering costs; the failure of OGM to address critical limitations in genomics analysis; the failure of OGM to pave the way for future development of better diagnostics and therapeutics for genetic diseases like repeat expansion disorders; the inability to achieve results similar to those referenced in this press release using the methods described therein; the failure of the publication referenced in this press release to prove to be an important advancement in repeat expansion research; the failure of the method described in this press release to further open researchers’ ability to expand their OGM menu; future publications that contradict the findings of the publication referenced in this press release; the failure of our ability to drive adoption and utilization of optical genome mapping as a replacement to traditional cytogenetic techniques; challenges inherent in developing, manufacturing and commercializing products; our ability to further deploy new products and applications for our technology platforms; our expectations and beliefs regarding future growth of the business and the markets in which we operate; changes in our strategic and commercial plans; our ability to continue as a “going concern,” which requires us to manage costs and obtain significant additional financing to fund our strategic plans and commercialization efforts; our ability to consummate any strategic alternatives; the risk that if we fail to obtain additional financing we may seek relief under applicable insolvency laws; and other risks and uncertainties including those described in our filings with the Securities and Exchange Commission (“SEC”), including, without limitation, our Annual Report on Form 10-K for the year ended December 31, 2024 and in other filings subsequently made by us with the SEC. All forward-looking statements contained in this report 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 are under no duty to update any of these forward-looking statements after the date they are made to conform these statements to actual results or revised expectations, except as required by law. You should, therefore, not rely on these forward-looking statements as representing our views as of any date subsequent to the date the statements are made. Moreover, except as required by law, neither we nor any other person assumes responsibility for the accuracy and completeness of the forward-looking statements contained in this press release.
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 accuracy rate did BNGO's optical genome mapping achieve in detecting repeat expansions?
How many samples showed somatic instability in BNGO's recent genetic study?
What advantages does BNGO's OGM technology offer over traditional genetic testing methods?
What is the maximum repeat unit size that BNGO's OGM technology can accurately measure?
