Routine application of next-generation sequencing testing in uro-oncology—Are we ready for the next step of personalised medicine?

2021 ◽  
Vol 146 ◽  
pp. 1-10
Author(s):  
Severin Rodler ◽  
Andreas Jung ◽  
Philipp A. Greif ◽  
Katharina Rühlmann ◽  
Maria Apfelbeck ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Personalised Medicine ◽  
Next Generation ◽  
Routine Application ◽  
Generation Sequencing

scholarly journals Identifying the Steps Required to Effectively Implement Next-Generation Sequencing in Oncology at a National Level in Europe

2022 ◽  
Vol 12 (1) ◽  
pp. 72
Author(s):  
Denis Horgan ◽  
Giuseppe Curigliano ◽  
Olaf Rieß ◽  
Paul Hofman ◽  
Reinhard Büttner ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Clinical Care ◽  
Personalised Medicine ◽  
National Level ◽  
Improve Patient Care ◽  
Patient Access ◽  
Next Generation ◽  
Stakeholder Collaboration ◽  
Multi Stakeholder ◽  
Generation Sequencing

Next-generation sequencing (NGS) may enable more focused and highly personalized cancer treatment, with the National Comprehensive Cancer Network and European Society for Medical Oncology guidelines now recommending NGS for daily clinical practice for several tumor types. However, NGS implementation, and therefore patient access, varies across Europe; a multi-stakeholder collaboration is needed to establish the conditions required to improve this discrepancy. In that regard, we set up European Alliance for Personalised Medicine (EAPM)-led expert panels during the first half of 2021, including key stakeholders from across 10 European countries covering medical, economic, patient, industry, and governmental expertise. We describe the outcomes of these panels in order to define and explore the necessary conditions for NGS implementation into routine clinical care to enable patient access, identify specific challenges in achieving them, and make short- and long-term recommendations. The main challenges identified relate to the demand for NGS tests (governance, clinical standardization, and awareness and education) and supply of tests (equitable reimbursement, infrastructure for conducting and validating tests, and testing access driven by evidence generation). Recommendations made to resolve each of these challenges should aid multi-stakeholder collaboration between national and European initiatives, to complement, support, and mutually reinforce efforts to improve patient care.

scholarly journals The role of omics in neuroblastoma: Patient’s risk classification and personalised therapy

2016 ◽  
Vol 2 (5) ◽  
pp. 271 ◽  
Author(s):  
Maria Rosaria Esposito ◽  
Sanja Aveic ◽  
Anke Seydel ◽  
Gian Paolo Tonini
Keyword(s):  
Next Generation Sequencing ◽  
High Risk ◽  
Tumour Progression ◽  
Personalised Medicine ◽  
Copy Number Variations ◽  
Risk Classification ◽  
Comparative Genomic ◽  
Next Generation ◽  
Gene Signatures ◽  
Generation Sequencing

<p>Neuroblastoma is an embryonic malignancy of early childhood that originates from neural crest cells and shows heterogeneous biological, morphological, genetic, and clinical characteristics. <em>MYCN</em> oncogene amplification has been observed in 20% of neuroblastoma cases and is one of the most reliable prognostic markers of this tumour. In the last decade, microarray comparative genomic hybridization (CGH) has been widely employed to discover genome abnormalities and to evaluate patient’s risk. Several numerical and structural copy number variations including the loss of 1p, 3p, 9p, 11q, and 14q, along with the gain of 2p and 17q, was observed to be mainly associated with high-risk neuroblastoma. Extensive studies have been carried out to identify gene signatures associated with tumour progression and at least two gene signatures, the 59-gene and the 146-gene, can be used to significantly discriminate between low- and high-risk patients. Subsequently, the advent of next-generation sequencing has shown that neuroblastoma is characterised by a low number of damaging somatic mutations. Furthermore, mutations occurring in <em>ALK</em>, <em>ATRX</em>, and <em>TERT</em> genes play a crucial role in neuroblastoma development. This raises the possibility of performing next-generation sequencing signature to refine a patient’s risk classification. Omics data have allowed us to improve the diagnostic of neuroblastoma and to identify biological targets that are suitable for precision medicine. The present review highlights the paramount importance of omics in neuroblastoma and updates the most recent advances in this area that are associated with personalised medicine of patients with neuroblastoma.</p>

Labordiagnostik bei gastrointestinalen Tumoren

2020 ◽  
Vol 11 (05) ◽  
pp. 232-238
Author(s):  
Marcus Kleber
Keyword(s):  
Next Generation Sequencing ◽  
Kolorektales Karzinom ◽  
Next Generation ◽  
Generation Sequencing

ZUSAMMENFASSUNGDas kolorektale Karzinom (KRK) ist einer der häufigsten malignen Tumoren in Deutschland. Einer frühzeitigen Diagnostik kommt große Bedeutung zu. Goldstandard ist hier die Koloskopie. Die aktuelle S3-Leitlinie Kolorektales Karzinom empfiehlt zum KRK-Screening den fäkalen okkulten Bluttest. Für das Monitoring von Patienten vor und nach Tumorresektion werden die Messung des Carcinoembryonalen Antigens (CEA) und der Mikrosatellitenstabilität empfohlen. Für die Auswahl der korrekten Chemotherapie scheint derzeit eine Überprüfung des Mutationsstatus, mindestens des KRAS-Gens und des BRAF-Gens, sinnvoll zu sein. Eine Reihe an neuartigen Tumormarkern befindet sich momentan in der Entwicklung, hat jedoch noch nicht die Reife für eine mögliche Anwendung in der Routinediagnostik erreicht. Den schnellsten Weg in die breite Anwendung können Next-Generation-Sequencing-basierte genetische Tests finden.

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