Encouraging physician adoption of genetic testing for precision medicine

2016 ◽  
Vol 13 (3) ◽  
pp. 201-204 ◽  
Author(s):  
Susan K Delaney ◽  
Michael F Christman
2018 ◽  
Vol 22 (7) ◽  
pp. 1286-1296 ◽  
Author(s):  
Carlotta Barbon ◽  
Georgios Antonios Margonis ◽  
Nikolaos Andreatos ◽  
Neda Rezaee ◽  
Kazunari Sasaki ◽  
...  

F1000Research ◽  
2018 ◽  
Vol 7 ◽  
pp. 1932 ◽  
Author(s):  
John Paul Leach

Epilepsy was among the first disease areas to begin to apply principles of precision medicine to its treatment. This review looks at the role of investigation in ensuring the safety and effectiveness of antiepileptic drug treatment. Using sound principles, we can see that the use of genetic testing will advance treatment of epilepsy in reducing harm and adverse effects and enhancing efficacy.


2019 ◽  
Vol 171 (9) ◽  
pp. 659 ◽  
Author(s):  
Y. Dana Neugut ◽  
Sumit Mohan ◽  
Ali G. Gharavi ◽  
Krzysztof Kiryluk

Author(s):  
Kevin Y. Zhan ◽  
Oliver F. Adunka ◽  
Adrien Eshraghi ◽  
William J. Riggs ◽  
Sandra M. Prentiss ◽  
...  

2020 ◽  
Vol 38 (15_suppl) ◽  
pp. e24164-e24164 ◽  
Author(s):  
Nikki A. Martin ◽  
Sue J. Friedman ◽  
Claire Saxton ◽  
Ronit Yarden ◽  
Stacie Lindsey ◽  
...  

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.


2019 ◽  
Vol 5 (1) ◽  
Author(s):  
Sabina Semiz ◽  
Philip C. Aka

Abstract This article explores the possibilities and challenges of genetic testing, genetic counseling, and genome editing (collectively referred to in this piece as precision medicine) in Bosnia and Herzegovina, in the era of CRISP-Cas9. It is informed by recent developments in the field which reached new heights in the radar of global awareness in the wake of the research scandal from China in November of 2018. The scandal generated intense debates, some of it still ongoing, regarding the appropriate boundaries for scientific research on human DNA. Bearing on independent developments within this country, complemented with global events, the article covers several grounds related to the topic, including: the nature and limits of emerging legislation; measures of genetic testing and genetic counseling; public engagement meant to increase awareness among stakeholders, beginning with the public, regarding these novel technologies; and corresponding bioethical and social implications. BH decision makers must work to ensure that socioeconomic factors do not pose obstacles to healthcare access, including matters bordering on precision medicine, and they must strive to realize standards for citizens, whether in healthcare delivery, research, or general educational services, that do not lag behind the rest of Europe. The route to reaching these governance goals will be through well-timed legislation, level-headed implementation, and diligent legislative oversight of the work of administrative agencies.


2020 ◽  
Vol 17 (2) ◽  
pp. 609-615 ◽  
Author(s):  
Pasquale Striano ◽  
Berge A. Minassian

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