Trailblazing Study Shows Early CGP Leads to Better Precision Treatments
A comprehensive study by Illumina, Providence, and Microsoft Research demonstrates that a 523-gene comprehensive genomic profiling (CGP) panel significantly improves cancer treatment outcomes. The study, published in the Journal of Clinical Oncology - Oncology Practice, analyzed 3,216 patients with advanced cancers. Key findings show that 67% of tumors contained actionable mutations using CGP, compared to 33% with a 50-gene panel. Patients receiving precision therapy based on CGP results showed median survival of 25 months versus 17 months for those on chemotherapy alone. The panel identified actionable variations in 52% of patients, qualifying them for targeted or immune therapy.
Uno studio completo condotto da Illumina, Providence e Microsoft Research dimostra che un pannello di profilazione genomica comprensiva (CGP) di 523 geni migliora significativamente i risultati del trattamento del cancro. Lo studio, pubblicato nel Journal of Clinical Oncology - Oncology Practice, ha analizzato 3.216 pazienti con tumori avanzati. I risultati chiave mostrano che il 67% dei tumori conteneva mutazioni utilizzabili grazie al CGP, rispetto al 33% con un pannello di 50 geni. I pazienti che ricevevano terapia di precisione basata sui risultati del CGP hanno mostrato una sopravvivenza mediana di 25 mesi rispetto ai 17 mesi per coloro che hanno ricevuto solo chemioterapia. Il pannello ha identificato variazioni utilizzabili nel 52% dei pazienti, qualificandoli per terapie mirate o immunologiche.
Un estudio completo realizado por Illumina, Providence y Microsoft Research demuestra que un panel de perfil genómico integral (CGP) de 523 genes mejora significativamente los resultados del tratamiento del cáncer. El estudio, publicado en el Journal of Clinical Oncology - Oncology Practice, analizó a 3.216 pacientes con cánceres avanzados. Los hallazgos clave muestran que el 67% de los tumores contenía mutaciones accionables usando CGP, en comparación con el 33% con un panel de 50 genes. Los pacientes que recibieron terapia de precisión basada en los resultados del CGP mostraron una supervivencia media de 25 meses frente a 17 meses para aquellos que solo recibieron quimioterapia. El panel identificó variaciones accionables en el 52% de los pacientes, calificándolos para terapia dirigida o inmune.
Illumina, Providence 및 Microsoft Research가 수행한 종합 연구에 따르면 523개 유전자 종합 유전체 프로파일링(CGP) 패널이 암 치료 결과를 획기적으로 개선하는 것으로 나타났습니다. 이 연구는 Journal of Clinical Oncology - Oncology Practice에 발표되었으며, 3,216명의 진행 암 환자를 분석했습니다. 주요 발견에 따르면, CGP를 사용한 경우 67%의 종양에서 실행 가능한 변이가 발견된 반면, 50개 유전자 패널을 사용한 경우는 33%에 불과했습니다. CGP 결과를 바탕으로 정밀 치료를 받은 환자는 중위 생존 기간이 25개월인 반면, 단순화학요법을 받은 환자는 17개월이었습니다. 이 패널은 52%의 환자에게서 실행 가능한 변이를 식별하여 표적 또는 면역 치료에 적합하게 만들었습니다.
Une étude approfondie réalisée par Illumina, Providence et Microsoft Research démontre qu'un panel de profilage génomique complet (CGP) de 523 gènes améliore considérablement les résultats des traitements contre le cancer. L'étude, publiée dans le Journal of Clinical Oncology - Oncology Practice, a analysé 3.216 patients atteints de cancers avancés. Les résultats clés montrent que 67% des tumeurs contenaient des mutations exploitables grâce au CGP, contre 33% avec un panel de 50 gènes. Les patients recevant une thérapie de précision basée sur les résultats du CGP ont montré une survie médiane de 25 mois contre 17 mois pour ceux qui ne recevaient que de la chimiothérapie. Le panel a identifié des variations exploitables chez 52% des patients, les rendant éligibles à une thérapie ciblée ou immunitaire.
Eine umfassende Studie von Illumina, Providence und Microsoft Research zeigt, dass ein 523-Gen umfassendes genomisches Profiling (CGP) Panel die Behandlungsergebnisse bei Krebs erheblich verbessert. Die Studie, veröffentlicht im Journal of Clinical Oncology - Oncology Practice, analysierte 3.216 Patienten mit fortgeschrittenen Krebserkrankungen. Die Schlüsselergebnisse zeigen, dass 67% der Tumore verwertbare Mutationen aufwiesen, während es bei einem 50-Gen-Panel nur 33% waren. Patienten, die eine präzise Therapie basierend auf CGP-Ergebnissen erhielten, hatten eine mediange Survivalzeit von 25 Monaten im Vergleich zu 17 Monaten für diejenigen, die nur Chemotherapie erhielten. Das Panel identifizierte verwertbare Variationen bei 52% der Patienten, die für gezielte oder immuntherapeutische Behandlungen qualifiziert wurden.
- CGP panel identified actionable mutations in 67% of tumors vs 33% for smaller panels
- Patients receiving precision therapy showed 8-month longer median survival (25 vs 17 months)
- 52% of CGP-tested patients qualified for targeted or immune therapy
- Study demonstrated clear clinical benefit of comprehensive genomic testing
- 88% of patients had metastatic disease
- 40% of study participants entered hospice
- effectiveness for some cancer types
Insights
This groundbreaking study demonstrates significant clinical value of Illumina's comprehensive genomic profiling (CGP) technology. The 523-gene panel showed remarkable efficacy, identifying actionable mutations in
The collaboration with Providence and Microsoft Research adds credibility to the findings, while the large sample size of 3,216 patients provides robust statistical significance. The streamlined pathologist-initiated testing protocol and integration of AI for interpretation represents a scalable model for clinical implementation. The ongoing five-year study with 10,000+ patients suggests potential for even broader market adoption and clinical impact.
This positions Illumina strongly in the growing precision oncology market, with clear differentiation from competitors offering smaller panels. The successful clinical validation could drive increased adoption in healthcare systems and potentially influence insurance coverage policies.
NORTHAMPTON, MA / ACCESSWIRE / November 22, 2024 / Illumina
A 523-gene oncology panel identifies actionable tumor variations and improves outcomes
Originally published on Illumina News Center
A large, multiyear study conducted by Illumina, Providence, and Microsoft Research has shown that a comprehensive genomic profiling (CGP) panel, which can assess more than 500 genetic variations in tumors, is a powerful tool to direct patients to the most advanced precision therapies that improve overall survival. The study was published in the Journal of Clinical Oncology - Oncology Practice and will be presented at the Association for Molecular Pathology (AMP) 2024 meeting in Vancouver, British Columbia.
"With the comprehensive panel, we found that about half of our patients had at least one high-tier, actionable alteration, qualifying them for a precision therapy," says Brian Piening, PhD, director of Clinical Genomics at Providence, research faculty at the Earle A. Chiles Research Institute, and senior author on the paper. "Also, over half of our patients had a biomarker that would qualify them for a clinical trial. These are pretty striking results."
The evolution of genetic testing
Cancers are genetic diseases, in which genomic and chromosomal variations drive rampant cell growth. Over the past 30 years, clinicians have adopted increasingly sophisticated tests to identify these alterations and, when supported by evidence, refer patients to more effective therapies.
Early efforts were encouraging, but lacked breadth, often sequencing 50 or fewer genes and missing important tumor information. CGP provides a broader view of the diagnostic, prognostic, and predictive genetic variants underlying a patient's cancer.
Knowing a tumor's genomic blueprint can guide precision treatment. In many cases, if a mutated enzyme is causing uncontrolled cell growth, a targeted therapy can slow it down or stop it entirely. Immunotherapies harness a patient's own immune system to recognize and destroy tumors. These and other emerging treatments can dramatically improve patient outcomes-but first, clinicians must understand the genetic anomalies driving their tumors.
Streamlining protocol for CGP
The joint paper details the first two years of a five-year study to assess ProvSeq, a 523-gene panel used to test 3216 patients with advanced cancers (Stage III or IV). The team wanted to know if this comprehensive approach would identify more actionable anomalies than smaller genomic panels, and whether use of advanced therapies targeting those anomalies prolonged patient survival.
To remove insurance reimbursement from the equation, the researchers provided these tests at no cost. They also refined how CGP was ordered, to deliver the results faster and better influence care.
"We instituted a protocol where the test would be initiated when a pathologist diagnosed advanced cancer," Piening says. "Normally, oncologists ordered these, but we felt shifting it to pathologists would streamline the process. Having pathologists order CGP up front really brings it to the top of the list."
Using an approach developed by Microsoft Research collaborators and based on natural language processing, Providence clinical researchers were able to quickly and efficiently parse large sets of publications, clinical trials, and electronic health records. These AI capabilities assisted Providence researchers with genomics interpretation and clinical trial matching in the molecular tumor boards.
Robust results
The team ran simulations to compare ProvSeq's performance against that of a 50-gene panel on the same data. Unsurprisingly, the smaller panel failed to detect many actionable biomarkers.
The most common tumors found were lung, colon, breast and prostate. Around
In addition,
These raw statistics had real-world consequences. Because CGP identified actionable mutations in people with serious and possibly deadly tumors, those patients received the most precise treatments.
"A number of the participants had quite advanced, aggressive cancers," Piening says. "One patient was in hospice, and we found a highly targetable biomarker. The patient soon received the precision therapy and the response was remarkable. In a short time, they came off hospice and went back to work."
The research continues
In addition to the main paper, the team is also presenting two related posters at the AMP meeting. One showed that another genomic diagnostic could help determine whether ovarian cancer patients would respond to PARP inhibitors, which have shown some success against this challenging disease.
The team is also presenting on a subset of patients who had structural genomic variations called gene fusions. Some of these fusions were already well known but the scientists found several novel combinations, highlighting CGP's ability to detect unique genetic anomalies.
These findings are pieces of a much larger puzzle. The complete five-year study tested more than 10,000 patients, and researchers are waiting to learn more about their outcomes. This larger cohort could provide additional information about patients with relatively rare cancers.
The results are a positive step in CGP's clinical journey. Piening and his colleagues expect CGP-fueled patient outcomes to improve over time, as more targeted and immune therapies enter the clinic.
"We see new approvals all the time and that bodes well for the future," Piening says. "There's a lot of work to do, but those numbers will continue to climb. Ultimately, we'd like to be in a position where every patient has an available precision therapy option."
Photo: Brian Piening, PhD, director of Clinical Genomics at Providence | Photo courtesy of Providence
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