The Role of Next-Generation Sequencing and Reduced Time to Diagnosis In Haematological Diseases: Status Quo and Prospective Overview of Promising Molecular Testing Approaches
Early diagnosis and personalised disease management remain serious challenges in the field of haematological malignancies, especially for acute conditions. Additionally, reliable and timely detection of minimal residual disease is the key to improving patients’ clinical management, including guiding...
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| Format: | Article |
| Language: | English |
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European Medical Journal
2020-06-01
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| Series: | European Medical Journal |
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| Online Access: | https://www.emjreviews.com/hematology/article/the-role-of-next-generation-sequencing-and-reduced-time-to-diagnosis-in-haematological-diseases-status-quo-and-prospective-overview-of-promising-molecular-testing-approaches/ |
| _version_ | 1811306128439508992 |
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| author | Christina Ranft Bernasconi Jose Luis Costa Katelyn Gilmour Luca Quagliata |
| author_facet | Christina Ranft Bernasconi Jose Luis Costa Katelyn Gilmour Luca Quagliata |
| author_sort | Christina Ranft Bernasconi |
| collection | DOAJ |
| description | Early diagnosis and personalised disease management remain serious challenges in the field of haematological malignancies, especially for acute conditions. Additionally, reliable and timely detection of minimal residual disease is the key to improving patients’ clinical management, including guiding therapy choice, monitoring treatment response, and detecting relapse. Genomic biomarkers provide valuable information in this regard.
For example, chromosomal translocations and mutations in genes involved in haematopoietic proliferation and differentiation are considered the strongest predictors of treatment response and overall survival in acute myeloid leukaemia. Furthermore, NPM1 gene mutations and internal tandem duplications in FMS-like tyrosine kinase-3 (FLT3) are used to monitor minimal residual disease in acute myeloid leukaemia. Despite the growing availability of relevant molecular biomarkers, long turnaround times for genomic testing greatly impact the management of aggressive haematological disorders. Delayed access to laboratory test results both negatively influences patients’ psychological state and postpones therapy administration and adjustments. Depending on the technology used, next-generation sequencing allows high-throughput genome analyses within hours to days, at a relatively low cost. Simultaneously, it enables testing of large numbers and various types of biomarkers by targeted gene panels. At the present time, with the latest technological improvements, next-generation sequencing provides the means for advancing genomic-based diagnostics in haematological malignancies, by simplifying complex laboratory workflow and should be introduced more widely in routine clinical settings. |
| first_indexed | 2024-04-13T08:38:51Z |
| format | Article |
| id | doaj.art-500dcee116ac4e38ab28e3070262f6ba |
| institution | Directory Open Access Journal |
| issn | 2397-6764 |
| language | English |
| last_indexed | 2024-04-13T08:38:51Z |
| publishDate | 2020-06-01 |
| publisher | European Medical Journal |
| record_format | Article |
| series | European Medical Journal |
| spelling | doaj.art-500dcee116ac4e38ab28e3070262f6ba2022-12-22T02:53:58ZengEuropean Medical JournalEuropean Medical Journal2397-67642020-06-01527684The Role of Next-Generation Sequencing and Reduced Time to Diagnosis In Haematological Diseases: Status Quo and Prospective Overview of Promising Molecular Testing ApproachesChristina Ranft Bernasconi0Jose Luis Costa1Katelyn Gilmour2Luca Quagliata3Medical Affairs Team, Life Sciences Solutions, Thermo Fisher Scientific, Paisley, UKMedical Affairs Team, Life Sciences Solutions, Thermo Fisher Scientific, Paisley, UKEMEA Haematology Market Development Team, Life Sciences Solutions, Thermo Fisher Scientific, Paisley, UKMedical Affairs Team, Life Sciences Solutions, Thermo Fisher Scientific, Paisley, UKEarly diagnosis and personalised disease management remain serious challenges in the field of haematological malignancies, especially for acute conditions. Additionally, reliable and timely detection of minimal residual disease is the key to improving patients’ clinical management, including guiding therapy choice, monitoring treatment response, and detecting relapse. Genomic biomarkers provide valuable information in this regard. For example, chromosomal translocations and mutations in genes involved in haematopoietic proliferation and differentiation are considered the strongest predictors of treatment response and overall survival in acute myeloid leukaemia. Furthermore, NPM1 gene mutations and internal tandem duplications in FMS-like tyrosine kinase-3 (FLT3) are used to monitor minimal residual disease in acute myeloid leukaemia. Despite the growing availability of relevant molecular biomarkers, long turnaround times for genomic testing greatly impact the management of aggressive haematological disorders. Delayed access to laboratory test results both negatively influences patients’ psychological state and postpones therapy administration and adjustments. Depending on the technology used, next-generation sequencing allows high-throughput genome analyses within hours to days, at a relatively low cost. Simultaneously, it enables testing of large numbers and various types of biomarkers by targeted gene panels. At the present time, with the latest technological improvements, next-generation sequencing provides the means for advancing genomic-based diagnostics in haematological malignancies, by simplifying complex laboratory workflow and should be introduced more widely in routine clinical settings.https://www.emjreviews.com/hematology/article/the-role-of-next-generation-sequencing-and-reduced-time-to-diagnosis-in-haematological-diseases-status-quo-and-prospective-overview-of-promising-molecular-testing-approaches/haemato-oncological diseasesmolecular diagnosticsnext-generation sequencingtargeted treatmentsturnaround time |
| spellingShingle | Christina Ranft Bernasconi Jose Luis Costa Katelyn Gilmour Luca Quagliata The Role of Next-Generation Sequencing and Reduced Time to Diagnosis In Haematological Diseases: Status Quo and Prospective Overview of Promising Molecular Testing Approaches European Medical Journal haemato-oncological diseases molecular diagnostics next-generation sequencing targeted treatments turnaround time |
| title | The Role of Next-Generation Sequencing and Reduced Time to Diagnosis In Haematological Diseases: Status Quo and Prospective Overview of Promising Molecular Testing Approaches |
| title_full | The Role of Next-Generation Sequencing and Reduced Time to Diagnosis In Haematological Diseases: Status Quo and Prospective Overview of Promising Molecular Testing Approaches |
| title_fullStr | The Role of Next-Generation Sequencing and Reduced Time to Diagnosis In Haematological Diseases: Status Quo and Prospective Overview of Promising Molecular Testing Approaches |
| title_full_unstemmed | The Role of Next-Generation Sequencing and Reduced Time to Diagnosis In Haematological Diseases: Status Quo and Prospective Overview of Promising Molecular Testing Approaches |
| title_short | The Role of Next-Generation Sequencing and Reduced Time to Diagnosis In Haematological Diseases: Status Quo and Prospective Overview of Promising Molecular Testing Approaches |
| title_sort | role of next generation sequencing and reduced time to diagnosis in haematological diseases status quo and prospective overview of promising molecular testing approaches |
| topic | haemato-oncological diseases molecular diagnostics next-generation sequencing targeted treatments turnaround time |
| url | https://www.emjreviews.com/hematology/article/the-role-of-next-generation-sequencing-and-reduced-time-to-diagnosis-in-haematological-diseases-status-quo-and-prospective-overview-of-promising-molecular-testing-approaches/ |
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