scholarly journals The integration of emerging omics approaches to advance precision medicine: How can regulatory science help?

2018 ◽  
Vol 2 (5) ◽  
pp. 295-300
Author(s):  
Joan E. Adamo ◽  
Robert V. Bienvenu ◽  
F. Owen Fields ◽  
Soma Ghosh ◽  
Christina M. Jones ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Precision Medicine ◽  
Working Group ◽  
Regulatory Science ◽  
Translational Science ◽  
Next Generation ◽  
Clinical Validity ◽  
Knowledge Gaps ◽  
Recent Advances ◽  
Generation Sequencing

Building on the recent advances in next-generation sequencing, the integration of genomics, proteomics, metabolomics, and other approaches hold tremendous promise for precision medicine. The approval and adoption of these rapidly advancing technologies and methods presents several regulatory science considerations that need to be addressed. To better understand and address these regulatory science issues, a Clinical and Translational Science Award Working Group convened the Regulatory Science to Advance Precision Medicine Forum. The Forum identified an initial set of regulatory science gaps. The final set of key findings and recommendations provided here address issues related to the lack of standardization of complex tests, preclinical issues, establishing clinical validity and utility, pharmacogenomics considerations, and knowledge gaps.

scholarly journals Next Generation Sequencing Claims in Precision Medicine: Questions a Formulary Committee Should Ask

2016 ◽  
Vol 7 (4) ◽  
Author(s):  
Paul C Langley
Keyword(s):  
Next Generation Sequencing ◽  
Precision Medicine ◽  
Standard Of Care ◽  
Evidence Base ◽  
Assessment Tools ◽  
Next Generation ◽  
Clinical Validity ◽  
Treatment Pathways ◽  
The Impact ◽  
Generation Sequencing

The enthusiasm with which precision medicine has been embraced over the past 15 years has obscured the fact that the evidence base for biomarker-driven assessments, in particular for next generation sequencing (NGS), is limited. This applies both to the comparative performance of the various assessment tools as well as to the impact of biomarker driven decisions at the patient level. Where a genetic test is being evaluated there are five key questions a formulary committee should ask when assessing whether or not to recommend coverage and reimbursement for the test in target patient populations: (i) has the test met required standards for analytic and clinical validity? (ii) has the test been evaluated against competing tests for analytic and clinical validity? (iii) have the test-based claims met standards for credibility, evaluation and replication? (iv) has the test been accepted as part of the standard of care for patient management in the target disease state? (v) has the introduction of the test improved outcomes, including survivorship, adverse events, quality of life and costs, in the targeted population? The purpose of this commentary is twofold: first, to consider the appropriate evidentiary standards for the evaluation of a test and comparator tests; and, second, to identify questions that a formulary committee should address in submissions made for a test in health care systems. A critical issue is not only comparative claims for the test against the standard of care and comparator tests, but the assessment of test performance for the identified treatment pathways where mutations or variants are linked to recommendations for therapy options. Unless these issues are addressed it is unlikely that the promise of personalized medicine will be realized. The absence of an evidence base will deter both physicians and their patients from adopting NGS based recommendations.   Type: Commentary

scholarly journals Brain Tumor Biobank Development for Precision Medicine: Role of the Neurosurgeon

2021 ◽  
Vol 11 ◽  
Author(s):  
Emilie Darrigues ◽  
Benjamin W. Elberson ◽  
Annick De Loose ◽  
Madison P. Lee ◽  
Ebonye Green ◽  
...  
Keyword(s):  
Brain Tumor ◽  
Next Generation Sequencing ◽  
Precision Medicine ◽  
Critical Role ◽  
First Year ◽  
Histopathological Diagnosis ◽  
Next Generation ◽  
Cancer Predisposition Syndrome ◽  
Generation Sequencing

Neuro-oncology biobanks are critical for the implementation of a precision medicine program. In this perspective, we review our first year experience of a brain tumor biobank with integrated next generation sequencing. From our experience, we describe the critical role of the neurosurgeon in diagnosis, research, and precision medicine efforts. In the first year of implementation of the biobank, 117 patients (Female: 62; Male: 55) had 125 brain tumor surgeries. 75% of patients had tumors biobanked, and 16% were of minority race/ethnicity. Tumors biobanked were as follows: diffuse gliomas (45%), brain metastases (29%), meningioma (21%), and other (5%). Among biobanked patients, 100% also had next generation sequencing. Eleven patients qualified for targeted therapy based on identification of actionable gene mutations. One patient with a hereditary cancer predisposition syndrome was also identified. An iterative quality improvement process was implemented to streamline the workflow between the operating room, pathology, and the research laboratory. Dedicated tumor bank personnel in the department of neurosurgery greatly improved standard operating procedure. Intraoperative selection and processing of tumor tissue by the neurosurgeon was integral to increasing success with cell culture assays. Currently, our institutional protocol integrates standard histopathological diagnosis, next generation sequencing, and functional assays on surgical specimens to develop precision medicine protocols for our patients. This perspective reviews the critical role of neurosurgeons in brain tumor biobank implementation and success as well as future directions for enhancing precision medicine efforts.

Proteogenomics: From next-generation sequencing (NGS) and mass spectrometry-based proteomics to precision medicine

2019 ◽  
Vol 498 ◽  
pp. 38-46 ◽  
Author(s):  
Mia Yang Ang ◽  
Teck Yew Low ◽  
Pey Yee Lee ◽  
Wan Fahmi Wan Mohamad Nazarie ◽  
Victor Guryev ◽  
...  
Keyword(s):  
Mass Spectrometry ◽  
Next Generation Sequencing ◽  
Precision Medicine ◽  
Next Generation ◽  
Next Generation Sequencing Ngs ◽  
Generation Sequencing

Tumor Mutation Burden Computation in Two Pan-Cancer Precision Medicine Next-Generation Sequencing Panels

2020 ◽  
Vol 27 (10) ◽  
pp. 1553-1560 ◽  
Author(s):  
Yongqian Shu ◽  
Xiaohong Wu ◽  
Jia Shen ◽  
Dongdong Luo ◽  
Xiang Li ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Precision Medicine ◽  
Next Generation ◽  
Tumor Mutation Burden ◽  
Mutation Burden ◽  
Pan Cancer ◽  
Generation Sequencing

scholarly journals Bioinformatory-assisted analysis of next-generation sequencing data for precision medicine in pancreatic cancer

2017 ◽  
Vol 11 (10) ◽  
pp. 1413-1429 ◽  
Author(s):  
Linnéa Malgerud ◽  
Johan Lindberg ◽  
Valtteri Wirta ◽  
Maria Gustafsson-Liljefors ◽  
Masoud Karimi ◽  
...  
Keyword(s):  
Pancreatic Cancer ◽  
Next Generation Sequencing ◽  
Precision Medicine ◽  
Next Generation Sequencing Data ◽  
Next Generation ◽  
Sequencing Data ◽  
Assisted Analysis ◽  
Generation Sequencing

Standardization efforts enabling next-generation sequencing and microarray based biomarkers for precision medicine

2015 ◽  
Vol 9 (11) ◽  
pp. 1265-1272 ◽  
Author(s):  
Yuanting Zheng ◽  
Tao Qing ◽  
Yunjie Song ◽  
Jinhang Zhu ◽  
Ying Yu ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Precision Medicine ◽  
Next Generation ◽  
Generation Sequencing
Sign in / Sign up

Export Citation Format

Share Document