Translating personalized genomic medicine into clinical practice: evidence, values, and health policy

Bombard, Yvonne

doi:10.1139/gen-2015-0145

Cited by 14 publications

(10 citation statements)

References 54 publications

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“…The Genomics ADvISER is one of the first tools for use in the context of pre-test GS covering all categories of IR. The creation of this tool is timely; as GS is poised to become a part of clinical care [43,44], the generation of IR will only increase. Returning IR to patients shifts the nature of the patient's relationship with healthcare professionals by increasing the patient's need to understand a large volume of choices and make informed decisions.…”

Section: Discussionmentioning

confidence: 99%

The Genomics ADvISER: development and usability testing of a decision aid for the selection of incidental sequencing results

et al. 2018

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Guidelines recommend patients be informed of their incidental results (IR) when undergoing genomic sequencing (GS), yet there are limited tools to support patients' decisions about learning IR. The aim of this study is to develop and test the usability of a decision aid (DA) to guide patients' selection of IR, and to describe patients' preferences for learning IR following use of the DA. We developed and evaluated a DA using an iterative, mixed-methods process consisting of (1) prototype development, (2) feasibility testing, (3) cognitive interviews, (4) design and programming, and (5) usability testing. We created an interactive online DA called the Genomics ADvISER, a genomics decision AiD about Incidental SEquencing Results. The Genomics ADvISER begins with an educational whiteboard video, and then engages users in a values clarification exercise, knowledge quiz and final choice step, based on a 'binning' framework. Participants found the DA acceptable and intuitive to use. They were enthusiastic towards GS and IR; all selected multiple categories of IR. The Genomics ADvISER is a new patient-centered tool to support the clinical delivery of incidental GS results. The Genomics ADvISER fills critical care gaps, given the health care system's limited genomics expertise and capacity to convey the large volume of IR and their myriad of implications.

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Section: Discussionmentioning

confidence: 99%

The Genomics ADvISER: development and usability testing of a decision aid for the selection of incidental sequencing results

et al. 2018

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“…Therefore, genetic tests are becoming more available in the diagnostic laboratories and many physicians are now taking into account the results from these tests in order to decide the treatment strategies. Another significant translation opportunity that genomics will have in near future is within the personalised medicine and nutritional field [49,50,51]. More details on translational genomics can be found in these publications [31,40,52].…”

Section: Translational Omics: Where Are We Now?mentioning

confidence: 99%

Translational Metabolomics: Current Challenges and Future Opportunities

Pinu

Goldansaz

Jaine³

2019

Metabolites

143

111

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Metabolomics is one of the latest omics technologies that has been applied successfully in many areas of life sciences. Despite being relatively new, a plethora of publications over the years have exploited the opportunities provided through this data and question driven approach. Most importantly, metabolomics studies have produced great breakthroughs in biomarker discovery, identification of novel metabolites and more detailed characterisation of biological pathways in many organisms. However, translation of the research outcomes into clinical tests and user-friendly interfaces has been hindered due to many factors, some of which have been outlined hereafter. This position paper is the summary of discussion on translational metabolomics undertaken during a peer session of the Australian and New Zealand Metabolomics Conference (ANZMET 2018) held in Auckland, New Zealand. Here, we discuss some of the key areas in translational metabolomics including existing challenges and suggested solutions, as well as how to expand the clinical and industrial application of metabolomics. In addition, we share our perspective on how full translational capability of metabolomics research can be explored.

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“…There is also a need for curated compendium database of known pathogenic variants. Finally, in order to improve the efficiency of genetic testing, multiple dimensions should be considered including sounds clinical validity, clinical utility, costeffectiveness, health service impact analysis, in addition to a number of ethical and social factors such as psychological issues, and patient preferences, as recently summarized [21].…”

Section: Strategies To Increase Efficiency Of Genetic Testingmentioning

confidence: 99%

“…Free and open access to genomic data can have profoundly positive effect on the progress of genomic medicine. Due to the huge variation in technology, there is a need to develop a uniform framework for external quality assurance, ongoing validation, and accreditation [21]. Furthermore, achieving the promise of new target therapy requires a new paradigm of public-private partnership.…”

Section: Transparency Open Access and Partnershipsmentioning

confidence: 99%