Single‐cell sequencing in translational cancer research and challenges to meet clinical diagnostic needs

Pfisterer, Ulrich; Bräunig, Julia; Brattås, Per Ludvik; Heidenblad, Markus; Karlsson, Göran; Fioretos, Thoas

doi:10.1002/gcc.22944

Cited by 11 publications

(8 citation statements)

References 193 publications

(500 reference statements)

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“…Further refinement of methods to measure MRD may provide more accurate and sensitive treatment response information and increase its prognostic value [136]. Moreover, methods that allow measurement of genetic, epigenetic, transcriptomic and proteomic alterations as well as drug efficacies at the single-cell level are already dramatically improving our understanding of the cellular ecosystem of haematologic malignancies, but several challenges remain before the implementation in a clinical setting [12,83,137,138]. Increasing possibilities to measure disease burden from other sites than the tumour, through, for example, measurement of ctDNA, is also likely to become a valuable tool to capture genetic aberrations more comprehensively [96,139].…”

Section: Discussion and Concluding Remarksmentioning

confidence: 99%

Application of precision medicine in clinical routine in haematology—Challenges and opportunities

et al. 2022

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Precision medicine is revolutionising patient care in cancer. As more knowledge is gained about the impact of specific genetic lesions on diagnosis, prognosis and treatment response, diagnostic precision and the possibility for optimal individual treatment choice have improved. Identification of hallmark genetic aberrations such as the BCR::ABL1 gene fusion in chronic myeloid leukaemia (CML) led to the rapid development of efficient targeted therapy and molecular follow‐up, vastly improving survival for patients with CML during recent decades. The assessment of translocations, copy number changes and point mutations are crucial for the diagnosis and risk stratification of acute myeloid leukaemia and myelodysplastic syndromes. Still, the often heterogeneous and complex genetic landscape of haematological malignancies presents several challenges for the implementation of precision medicine to guide diagnosis, prognosis and treatment choice. This review provides an introduction and overview of the important molecular characteristics and methods currently applied in clinical practice to guide clinical decision making in haematological malignancies of myeloid and lymphoid origin. Further, experimental ways to guide the choice of targeted therapy for refractory patients are reviewed, such as functional precision medicine using drug profiling. An example of the use of pipeline studies where the treatment is chosen according to the molecular characteristics in rare solid malignancies is also provided. Finally, the future opportunities and remaining challenges of precision medicine in the real world are discussed.

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Section: Discussion and Concluding Remarksmentioning

confidence: 99%

Application of precision medicine in clinical routine in haematology—Challenges and opportunities

et al. 2022

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“…In parallel to evaluating the ability of WGS and WTS to replace SoC as a diagnostic tool, health-economy studies are performed within the study. Other upcoming studies within GMS will include the evaluation of single-cell technologies for clinical applications, a rapidly advancing field (Pfisterer et al, 2021 ), as well as methods allowing ultrasensitive detection of measurable residual disease of critical importance for monitoring treatment effects and to predict disease relapse at an earlier stage (Chen et al, 2022 ; de Leval et al, 2022 ).…”

Section: Implementation Of Precision Diagnostics/medicine In Healthcarementioning

confidence: 99%

Building a precision medicine infrastructure at a national level: The Swedish experience

Edsjö

Lindstrand²,

Gisselsson³

et al. 2023

Camb. prisms Precis. med.

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Precision medicine has the potential to transform healthcare by moving from one-size-fits-all to personalised treatment and care. This transition has been greatly facilitated through new high-throughput sequencing technologies that can provide the unique molecular profile of each individual patient, along with the rapid development of targeted therapies directed to the Achilles heels of each disease. To implement precision medicine approaches in healthcare, many countries have adopted national strategies and initiated genomic/precision medicine initiatives to provide equal access to all citizens. In other countries, such as Sweden, this has proven more difficult due to regionally organised healthcare. Using a bottom-up approach, key stakeholders from academia, healthcare, industry and patient organisations joined forces and formed Genomic Medicine Sweden (GMS), a national infrastructure for the implementation of precision medicine across the country. To achieve this, Genomic Medicine Centres have been established to provide regionally distributed genomic services, and a national informatics infrastructure has been built to allow secure data handling and sharing. GMS has a broad scope focusing on rare diseases, cancer, pharmacogenomics, infectious diseases and complex diseases, while also providing expertise in informatics, ethical and legal issues, health economy, industry collaboration and education. In this review, we summarise our experience in building a national infrastructure for precision medicine. We also provide key examples how precision medicine already has been successfully implemented within our focus areas. Finally, we bring up challenges and opportunities associated with precision medicine implementation, the importance of international collaboration, as well as the future perspective in the field of precision medicine.

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“…30 In addition, the demands for detection throughput and accuracy are the continuous driving force to promote the development of gene sequencing technology. 31 Therefore, the recent efforts are focused on these two aspects for improving SGS.…”

Section: Single-cell Genome Sequencingmentioning

confidence: 99%

Advanced techniques for gene heterogeneity research: Single‐cell sequencing and on‐chip gene analysis systems

Dong

Wang

Yin

et al. 2022

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Gene heterogeneity leads to the differences in cellular behaviors in a wide range, such as tumor drug‐resistant mutation, epithelial‐mesenchymal transition, and migration, posing significant challenges to the development of biomedicine. Traditional gene analysis methods, such as polymerase chain reaction, employ a mass of cells as the gene source, resulting in that the gene properties from a specific single cell are hidden in massive gene information. Recent decades have seen the emerging single‐cell gene analysis techniques with their unprecedented opportunities to study gene heterogeneity with high precision and high throughput. In this review, we summarized the state‐of‐the‐art techniques for single‐cell sequencing and on‐chip gene analysis systems. The principles of each technique are introduced in detail, with the focus on the application scenarios in gene heterogeneity research. Looking forward, we also introduced the challenges in current technologies and point out the future direction for facilitating the technical improvement and clinical applications of single‐cell gene analysis techniques.

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Single‐cell sequencing in translational cancer research and challenges to meet clinical diagnostic needs

Cited by 11 publications

References 193 publications

Application of precision medicine in clinical routine in haematology—Challenges and opportunities

Application of precision medicine in clinical routine in haematology—Challenges and opportunities

Building a precision medicine infrastructure at a national level: The Swedish experience

Advanced techniques for gene heterogeneity research: Single‐cell sequencing and on‐chip gene analysis systems

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