Using consistent terms in precision medicine to eliminate patient confusion.

2020 ◽  
Vol 38 (15_suppl) ◽  
pp. e24164-e24164 ◽  
Author(s):  
Nikki A. Martin ◽  
Sue J. Friedman ◽  
Claire Saxton ◽  
Ronit Yarden ◽  
Stacie Lindsey ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Patient Education ◽  
Precision Medicine ◽  
Working Group ◽  
Cancer Type ◽  
Plain Language ◽  
Framework Analysis ◽  
Biomarker Testing ◽  
Group Members ◽  
Germline Testing

e24164 Background: Biomarker testing has advanced precision medicine in cancer. However, not all eligible patients benefit from biomarker-driven therapies due to suboptimal testing rates. A working group of 20 patient advocacy groups representing solid/hematologic malignancies, three professional societies, and 18 pharmaceutical and diagnostics companies identified patient confusion inconsistent testing terms as a possible contributing factor to biomarker testing underutilization. The group aimed to address patients’ confusion by identifying and adopting consistent, plain language terms for biomarker and germline genetic testing that are applicable across cancer types. Methods: Following a stakeholder roundtable discussion on barriers to precision medicine, working group members participated in interviews on their goals for consistent testing terminology for their constituents. We then conducted a framework analysis covering five themes: available testing by cancer type; purpose of test; biospecimen source; terms used in patient education; and preferred plain language term. Working group members were surveyed on preferences for germline testing terminology and also deployed a preliminary patient survey to their constituents to gain insight on preferences for germline testing terms. Results: Interviews, framework analysis, and surveys revealed notable differences across cancer communities. We identified at least 33 different terms related to biomarker, genetic and genomic testing being used in patient education and clinical care among the different cancer communities and stakeholders. Terminology was complicated by the variety of testing modalities and gene mutations tested for across cancers. Following multiple discussions, working group members agreed on two umbrella terms to distinguish between somatic and germline testing with additional context for specific cancer communities. “Biomarker testing” was selected as the somatic testing term. “Genetic testing for an inherited mutation” and “genetic testing for inherited cancer risk” were selected as preferred germline testing terms. Conclusions: Our findings highlight the disparate testing terminology landscape and the need for consistent terms to reduce patient confusion, improve communication, facilitate shared decision-making and assure concordance in policy development.

scholarly journals Adopting Consensus Terms for Testing in Precision Medicine

2021 ◽  
pp. 1563-1567
Author(s):  
Nikki A. Martin ◽  
Joel E. Tepper ◽  
Veda N. Giri ◽  
Thomas E. Stinchcombe ◽  
Heather H. Cheng ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Precision Medicine ◽  
Health Care Providers ◽  
Treatment Decisions ◽  
Precision Oncology ◽  
Care Providers ◽  
Plain Language ◽  
Germline Variants ◽  
Risk Of Cancer ◽  
Germline Testing

PURPOSE Despite the well-understood benefits of biomarker and genetic testing in precision medicine, uptake remains low, particularly for patients with low socioeconomic status and minority ethnic backgrounds. Patients report having limited familiarity with testing terminology and may not be able to accurately explain testing's role in treatment decisions. Patient confusion and lack of understanding is exacerbated by a multiplicity of overlapping terms used in communicating about testing. A LUNGevity Foundation–led working group composed of five professional societies, 23 patient advocacy groups, and 19 industry members assessed and recommended specific terms for communicating with patients on testing for tumor characteristics and germline mutations. METHODS Members completed a precision oncology testing framework analysis (biomarkers, germline variants, testing modalities, biospecimen, and commonly used testing terms) for nine solid tumors and blood cancers. The evaluation was segmented into terms that distinguish between somatic and germline testing. Additional data were captured in a comprehensive survey (1,650 respondents) led by FORCE (Facing Our Risk of Cancer Empowered) on patient preferences on germline testing terms. RESULTS Thirty-three terms were noted in patient education related to biomarker, genetic, and genomic testing. Biomarker testing was selected as the preferred term for testing for somatic (acquired) alterations and other biomarkers. Genetic testing for an inherited mutation and genetic testing for inherited cancer risk were selected as the preferred terms for testing for germline variants. CONCLUSION Democratizing comprehension about precision oncology testing through intentional use of plain language and common umbrella terminology by oncology health care providers and others in the oncology ecosystem may help improve understanding and communication, and facilitate shared decision making about the role of appropriate testing in treatment decisions and other aspects of oncology care.

scholarly journals Bayesian adaptive design of early-phase clinical trials for precision medicine based on cancer biomarkers

2021 ◽  
Vol 0 (0) ◽  
Author(s):  
Shinjo Yada
Keyword(s):  
Neural Network ◽  
Clinical Trials ◽  
Precision Medicine ◽  
Early Phase ◽  
Patient Specific ◽  
Specific Gene ◽  
Cancer Type ◽  
Background Characteristics ◽  
Number Of Patients ◽  
Early Phase Clinical Trials

Abstract Cancer tissue samples obtained via biopsy or surgery were examined for specific gene mutations by genetic testing to inform treatment. Precision medicine, which considers not only the cancer type and location, but also the genetic information, environment, and lifestyle of each patient, can be applied for disease prevention and treatment in individual patients. The number of patient-specific characteristics, including biomarkers, has been increasing with time; these characteristics are highly correlated with outcomes. The number of patients at the beginning of early-phase clinical trials is often limited. Moreover, it is challenging to estimate parameters of models that include baseline characteristics as covariates such as biomarkers. To overcome these issues and promote personalized medicine, we propose a dose-finding method that considers patient background characteristics, including biomarkers, using a model for phase I/II oncology trials. We built a Bayesian neural network with input variables of dose, biomarkers, and interactions between dose and biomarkers and output variables of efficacy outcomes for each patient. We trained the neural network to select the optimal dose based on all background characteristics of a patient. Simulation analysis showed that the probability of selecting the desirable dose was higher using the proposed method than that using the naïve method.

The role of the genetic testing industry in patient education of hereditary cancer: An observational study assessing the quality of pre-test patient education videos

2020 ◽  
Vol 159 (2) ◽  
pp. e22-e23
Author(s):  
Danielle Collins Greenberg ◽  
Daniella Kamara ◽  
Zina Tatsugawa ◽  
Marlene Mendoza ◽  
Elizabeth Pineda ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Patient Education ◽  
Observational Study ◽  
Hereditary Cancer ◽  
Test Patient

Colorectal Liver Metastases: Does the Future of Precision Medicine Lie in Genetic Testing?

2018 ◽  
Vol 22 (7) ◽  
pp. 1286-1296 ◽  
Author(s):  
Carlotta Barbon ◽  
Georgios Antonios Margonis ◽  
Nikolaos Andreatos ◽  
Neda Rezaee ◽  
Kazunari Sasaki ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Liver Metastases ◽  
Precision Medicine ◽  
Colorectal Liver Metastases ◽  
The Future

scholarly journals Implementation of an embedded in‐clinic genetic testing station to optimize germline testing for patients with pancreatic adenocarcinoma

2021 ◽  
Author(s):  
Evan J. Walker ◽  
Dena Goldberg ◽  
Kelly M Gordon ◽  
Christina Pedley ◽  
Julia Carnevale ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Pancreatic Adenocarcinoma ◽  
Germline Testing

Clinical impact of medical policy supporting universal germline testing for patients with colorectal cancer.

2021 ◽  
Vol 39 (15_suppl) ◽  
pp. 10514-10514
Author(s):  
Sarah M. Nielsen ◽  
Joline Dalton ◽  
Kathryn E. Hatchell ◽  
Stacey DaCosta Byfield ◽  
Chad Moretz ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Genetic Testing ◽  
Clinical Information ◽  
The United States ◽  
Clinical Treatment ◽  
Administrative Claims ◽  
Treatment Trials ◽  
Precision Therapy ◽  
Medical Policy ◽  
Germline Testing

10514 Background: Colorectal cancer (CRC) affects approximately 104,000 patients (pts) annually in the United States, up to 45% of which are estimated to be genetic and/or familial. Aligned with clinical guidelines, in 2020, a large U.S. insurer established Medical Policy allowing for and reimbursing germline genetic testing (GGT) for all CRC pts. This study reports overall uptake of GGT in CRC pts under this inclusive policy, actionable findings and treatment implications for pts tested, stratified by self-reported ancestry/ethnicity. Methods: Two independent de-identified datasets were reviewed, including administrative claims data of commercially insured and Medicare Advantage enrollees, aged 18+ with CRC (≥1 claim with ICD10 C18, C19 or C20 in the first position) who were continuously enrolled (CE) in the health plan from 1/2019-10/2020. Evidence of genetic testing based on CPT codes, was examined during 2020. A second de-identified dataset of CRC pts whose GGT was billed to the insurer under the Medical Policy, was also reviewed. Patient demographics, clinical information and GGT results were descriptively analyzed. Results: Of the >18,000,000 CE enrollees, 55,595 were identified as CRC pts, of whom 1,675 (3%) received GGT. From the GGT dataset, 788 pts had test results available for review. 143 (18%) pts had pathogenic/likely pathogenic (P/LP) variants in genes including MSH2, MLH1, PMS2, MSH6, CHEK2, APC, BRCA2, ATM, MUTYH (biallelic). Of pts with P/LP variants, 96 (67%) were potentially eligible for precision therapy and/or clinical treatment trials. Overall, 133 (93%) had P/LP variants in genes with precision therapy, clinical trial and/or published management implications. In a subset of pts (n=674) with ethnicity data; Asian, Black/African-American and Hispanic pts showed lower relative uptake of germline testing than Caucasians (Table). Conclusions: Despite Medical Policy allowing for GGT for all pts with CRC, only 3% of eligible pts received testing. If all CRC pts had been tested, these data suggest up to 6,705 pts with P/LP variants conferring potential eligibility for precision therapy (PD-1/PD-L1 inhibitors) or clinical treatment trials (PARP inhibitors), and an additional 2,602 pts with mutations in genes with published management recommendations, could have been identified, but were missed. Additional research is needed to identify obstacles to systematic implementation of this Medical Policy, the best timing of GGT to prevent CRC and improve access to underrepresented populations. CRC patients with germline genetic testing.[Table: see text]

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 The Quest to solve the HL-LHC data access puzzle

2020 ◽  
Vol 245 ◽  
pp. 04027
Author(s):  
X. Espinal ◽  
S. Jezequel ◽  
M. Schulz ◽  
A. Sciabà ◽  
I. Vukotic ◽  
...  
Keyword(s):  
Data Storage ◽  
Working Group ◽  
Data Access ◽  
Current Data ◽  
Resource Needs ◽  
Lake Model ◽  
New Concepts ◽  
Depth Analysis ◽  
Group Members ◽  
The Impact

HL-LHC will confront the WLCG community with enormous data storage, management and access challenges. These are as much technical as economical. In the WLCG-DOMA Access working group, members of the experiments and site managers have explored different models for data access and storage strategies to reduce cost and complexity, taking into account the boundary conditions given by our community.Several of these scenarios have been evaluated quantitatively, such as the Data Lake model and incremental improvements of the current computing model with respect to resource needs, costs and operational complexity.To better understand these models in depth, analysis of traces of current data accesses and simulations of the impact of new concepts have been carried out. In parallel, evaluations of the required technologies took place. These were done in testbed and production environments at small and large scale.We will give an overview of the activities and results of the working group, describe the models and summarise the results of the technology evaluation focusing on the impact of storage consolidation in the form of Data Lakes, where the use of streaming caches has emerged as a successful approach to reduce the impact of latency and bandwidth limitation.We will describe the experience and evaluation of these approaches in different environments and usage scenarios. In addition we will present the results of the analysis and modelling efforts based on data access traces of the experiments.

scholarly journals Guidelines for Biobanking of Bone Marrow Adipose Tissue and Related Cell Types: Report of the Biobanking Working Group of the International Bone Marrow Adiposity Society

2021 ◽  
Vol 12 ◽  
Author(s):  
Stephanie Lucas ◽  
Michaela Tencerova ◽  
Benoit von der Weid ◽  
Thomas Levin Andersen ◽  
Camille Attané ◽  
...  
Keyword(s):  
Bone Marrow ◽  
Adipose Tissue ◽  
Working Group ◽  
Cell Types ◽  
Bone Marrow Adipose Tissue ◽  
Marrow Adipose Tissue ◽  
Marrow Adiposity ◽  
Group Members ◽  
Number Of Publications ◽  
Different Sources

Over the last two decades, increased interest of scientists to study bone marrow adiposity (BMA) in relation to bone and adipose tissue physiology has expanded the number of publications using different sources of bone marrow adipose tissue (BMAT). However, each source of BMAT has its limitations in the number of downstream analyses for which it can be used. Based on this increased scientific demand, the International Bone Marrow Adiposity Society (BMAS) established a Biobanking Working Group to identify the challenges of biobanking for human BMA-related samples and to develop guidelines to advance establishment of biobanks for BMA research. BMA is a young, growing field with increased interest among many diverse scientific communities. These bring new perspectives and important biological questions on how to improve and build an international community with biobank databases that can be used and shared all over the world. However, to create internationally accessible biobanks, several practical and legislative issues must be addressed to create a general ethical protocol used in all institutes, to allow for exchange of biological material internationally. In this position paper, the BMAS Biobanking Working Group describes similarities and differences of patient information (PIF) and consent forms from different institutes and addresses a possibility to create uniform documents for BMA biobanking purposes. Further, based on discussion among Working Group members, we report an overview of the current isolation protocols for human bone marrow adipocytes (BMAds) and bone marrow stromal cells (BMSCs, formerly mesenchymal), highlighting the specific points crucial for effective isolation. Although we remain far from a unified BMAd isolation protocol and PIF, we have summarized all of these important aspects, which are needed to build a BMA biobank. In conclusion, we believe that harmonizing isolation protocols and PIF globally will help to build international collaborations and improve the quality and interpretation of BMA research outcomes.

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