Scenario drafting for early technology assessment of next generation sequencing in clinical oncology

Joosten, Stacey E. P.; Retèl, Valesca P.; Coupé, Veerle M.H.; Heuvel, Michel M. van den; Harten, Wim H. van

doi:10.1186/s12885-016-2100-0

Cited by 23 publications

(16 citation statements)

References 16 publications

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“…These methodologies are complementary to each other and are essential for genetic discovery projects. Further, targeted sequencing of multiple specific genomic regions may offer an easier and less expensive alternative strategy in routine molecular diagnostics of cancer allowing a more detailed cancer genetic lesions to be obtained [ 10 , 11 ].…”

Section: Introductionmentioning

confidence: 99%

Targeted next generation sequencing identifies somatic mutations and gene fusions in papillary thyroid carcinoma

Zhang

Feng

et al. 2017

Oncotarget

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138 papillary thyroid carcinoma (PTC) samples were assessed for somatic mutation profile and fusion genes by targeted resequencing using a cancer panel (ThyGenCapTM) targeting 244 cancer-related genes and 20 potential fusion genes. At least one genetic alteration (including mutations and fusion genes) was observed in 118/138 (85.5%) samples. The most frequently mutated gene was BRAF V600E (57.2%). Moreover, we identified 11 fusion genes including eight previously reported ones and three novel fusion genes, UEVLD-RET, OSBPL9-BRAF, and SQSTM1-NTRK3. Alterations affecting the mitogen-activated protein kinase (MAPK) signaling pathway components were seen in 69.6% of the PTC cases and all of these driver mutations were mutually exclusive. Univariate analysis ascertained that the fusion genes were strongly associated with distinct clinicopathological characteristics, such as young age, local invasion, extensive metastasis, and disease stage. In conclusion, our approach facilitated simultaneous high-throughput detection of gene fusions and somatic mutations in PTC samples.

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Section: Introductionmentioning

confidence: 99%

Targeted next generation sequencing identifies somatic mutations and gene fusions in papillary thyroid carcinoma

Zhang

Feng

et al. 2017

Oncotarget

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“…Limited data suggest that techniques such as NGS are helpful in identifying mutations that can improve clinical decision-making at an affordable level (55). This leads into the issue of reimbursement, which is currently inadequate and consequently represents a barrier to the implementation of novel diagnostic innovations (56). Reimbursement in the Netherlands is further complicated by the Diagnosis Treatment Combination system, which restricts the healthcare provider in the choice of diagnostic tests during negotiations with the insurer.…”

Section: Challenge 3: Novel Diagnostic Tools Need To Be Made Availablmentioning

confidence: 99%

Implementation of Novel Molecular Biomarkers for Non-small Cell Lung Cancer in the Netherlands: How to Deal With Increasing Complexity

et al. 2020

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The diagnostic landscape of non-small cell lung cancer (NSCLC) is changing rapidly with the availability of novel treatments. Despite high-level healthcare in the Netherlands, not all patients with NSCLC are tested with the currently relevant predictive tumor markers that are necessary for optimal decision-making for today's available targeted or immunotherapy. An expert workshop on the molecular diagnosis of NSCLC involving pulmonary oncologists, clinical chemists, pathologists, and clinical scientists in molecular pathology was held in the Netherlands on December 10, 2018. The aims of the workshop were to facilitate cross-disciplinary discussions regarding standards of practice, and address recent developments and associated challenges that impact future practice. This paper presents a summary of the discussions and consensus opinions of the workshop participants on the initial challenges of harmonization of the detection and clinical use of predictive markers of NSCLC. A key theme identified was the need for broader and active participation of all stakeholders involved in molecular diagnostic services for NSCLC, including healthcare professionals across all disciplines, the hospitals and clinics involved in service delivery, healthcare insurers, and industry groups involved in diagnostic and treatment innovations. Such collaboration is essential to integrate different technologies into molecular diagnostics practice, to increase nationwide patient access to novel technologies, and to ensure consensus-preferred biomarkers are tested.

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“…Research to identify barriers to targeted therapy is emerging, but incomplete. Previous work has identified deficits in infrastructure [16,17], knowledge and skills [17,18], access to tests and treatments [12,18], and time for coordination of testing, treatment, and follow-up [19][20][21] as factors associated with poor uptake of TTs. However, many domains relevant to the adoption and implementation of novel, guideline-based TTs (e.g., BRAF testing in metastatic melanoma) have not been assessed.…”

Section: Introductionmentioning

confidence: 99%

Precision community: a mixed methods study to identify determinants of adoption and implementation of targeted cancer therapy in community oncology

Ball

Thompson

Wulff‐Burchfield

et al. 2020

Implement Sci Commun

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Background: Precision medicine has enormous potential to improve cancer outcomes. Over one third of the 1.5 million Americans diagnosed with cancer each year have genetic mutations that could be targeted with an FDAapproved drug to treat their disease more effectively. However, the current uptake of targeted cancer therapy in clinical practice is suboptimal. Tumor testing is not widely used, and treatments based on molecular and genomic profiling are often not prescribed when indicated. Challenges with the uptake of precision medicine may disproportionately impact cancer patients in rural communities and other underserved populations. The objective of this study is to identify the determinants of adoption and implementation of precision cancer therapy to design an implementation strategy for community oncology practices, including those in rural areas. Methods: This study is an explanatory sequential mixed methods study to identify factors associated with the use of targeted cancer therapy. Levels of targeted therapy use will be ascertained by secondary analysis of medical records to identify concordance with 18 national guideline recommendations for use of precision medicine in the treatment of breast, colorectal, lung, and melanoma skin cancer. Concurrently, facilitators and barriers associated with the use of precision cancer therapy will be elicited from interviews with up to a total of 40 oncologists, administrators, pathology, and pharmacy staff across the participating sites. Qualitative analysis will be a template analysis based on the Theoretical Domains Framework. Quantitative data aggregated at the practice level will be used to rank oncology practices' adherence to targeted cancer therapy guidelines. Determinants will be compared among high and low users to isolate factors likely to facilitate targeted therapy use. The study will be conducted in eight community oncology practices, with an estimated 4121 targeted therapy treatment decision-making opportunities over a 3-year period. Discussion: Despite unprecedented investment in precision medicine, translation into practice is suboptimal. Our study will identify factors associated with the uptake of precision medicine in community settings. These findings will inform future interventions to increase equitable uptake of evidence-based targeted cancer treatment.

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Scenario drafting for early technology assessment of next generation sequencing in clinical oncology

Cited by 23 publications

References 16 publications

Targeted next generation sequencing identifies somatic mutations and gene fusions in papillary thyroid carcinoma

Targeted next generation sequencing identifies somatic mutations and gene fusions in papillary thyroid carcinoma

Implementation of Novel Molecular Biomarkers for Non-small Cell Lung Cancer in the Netherlands: How to Deal With Increasing Complexity

Precision community: a mixed methods study to identify determinants of adoption and implementation of targeted cancer therapy in community oncology

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