Horizon scanning for new genomic tests

Gwinn, Marta; Grossniklaus, Daurice A.; Yu, Wei; Melillo, Stephanie; Wulf, Anja; Flome, Jennifer; Dotson, W. David; Khoury, Muin J.

doi:10.1097/gim.0b013e3182011661

Cited by 36 publications

(29 citation statements)

References 46 publications

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“…Some important successes in the field of genomic sciences in RCC genetic background have been reached (121, 122). For example, in the genome-wide association study (GWAS), Stadler et al discovered RCC genetic variants in relation to its etiology (123). It is worth noticing that a few genome-based laboratory tests are already available (they mostly concern personal genome profiles) (110).…”

Section: Resultsmentioning

confidence: 99%

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Genomic Analysis as the First Step toward Personalized Treatment in Renal Cell Carcinoma

2014

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Drug resistance mechanisms in renal cell carcinoma (RCC) still remain elusive. Although most patients initially respond to targeted therapy, acquired resistance can still develop eventually. Most of the patients suffer from intrinsic (genetic) resistance as well, suggesting that there is substantial need to broaden our knowledge in the field of RCC genetics. As molecular abnormalities occur for various reasons, ranging from single nucleotide polymorphisms to large chromosomal defects, conducting whole-genome association studies using high-throughput techniques seems inevitable. In principle, data obtained via genome-wide research should be continued and performed on a large scale for the purposes of drug development and identification of biological pathways underlying cancerogenesis. Genetic alterations are mostly unique for each histological RCC subtype. According to recently published data, RCC is a highly heterogeneous tumor. In this paper, the authors discuss the following: (1) current state-of-the-art knowledge on the potential biomarkers of RCC subtypes; (2) significant obstacles encountered in the translational research on RCC; and (3) recent molecular findings that may have a crucial impact on future therapeutic approaches.

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Section: Resultsmentioning

confidence: 99%

“…The second is to regard both not only in terms of hardware or software, but also in terms of the entire process of laboratory practice. The third is PFS (123). It is extremely crucial to educate healthcare professionals about genomics and its potential (124).…”

Section: Resultsmentioning

confidence: 99%

Genomic Analysis as the First Step toward Personalized Treatment in Renal Cell Carcinoma

2014

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“…29 Such tests were available through a health-care provider (Baylor) or through a direct-to-consumer offer (23andMe, DeCodeMe, DeCode T2, and Navigenics). Table 2 lists the five genomic test panels that met these criteria along with the 27 genetic markers included on those panels and eight additional markers found in GWA studies through additional horizon scanning.…”

Section: Genomic Panels For T2d Riskmentioning

confidence: 99%

Use of genomic panels to determine risk of developing type 2 diabetes in the general population: a targeted evidence-based review

Palomaki

Melillo

Marrone

et al. 2013

Genetics in Medicine

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“…However, this scenario is not realistic because of the vast number of existing and developing technologies, the prohibitive costs of such studies, and the limited number of patients with targeted diseases who are willing and able to participate in trials. 7–9 For example, a recent horizon scan identified 250 new genomic tests during the period from May 2009 to May 2010. 8 An example of this reality is the SWOG RxPONDER (Rx for Positive Node Endocrine Responsive Breast Cancer) trial to investigate chemotherapy benefit in patients with node-positive breast cancer and low to intermediate Oncotype Dx recurrence scores.…”

Section: Introductionmentioning

confidence: 99%

Getting our priorities straight: a novel framework for stakeholder-informed prioritization of cancer genomics research

Esmail

Roth

Rangarao

et al. 2013

Genetics in Medicine

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Purpose Prioritization of translational research on genomic tests is critically important given the rapid pace of innovation in genomics. The goal of this study was to evaluate a stakeholder-informed priority-setting framework in cancer genomics. Methods An external stakeholder advisory group including patients/consumers, payers, clinicians, and test developers used a modified Delphi approach to prioritize six candidate cancer genomic technologies during a 1-day meeting. Nine qualitative priority-setting criteria were considered. We used a directed, qualitative content-analysis approach to investigate the themes of the meeting discussion. Results Stakeholders primarily discussed six of the original nine criteria: clinical benefits, population health impacts, economic impacts, analytical and clinical validity, clinical trial implementation and feasibility, and market factors. Several new priority-setting criteria were identified from the workshop transcript, including “patient-reported outcomes,” “clinical trial ethics,” and “trial recruitment.” The new criteria were incorporated with prespecified criteria to develop a novel priority-setting framework. Conclusion This study highlights key criteria that stakeholders can consider when prioritizing comparative effectiveness research for cancer genomic applications. Applying an explicit priority-setting framework to inform investment in comparative effectiveness research can help to ensure that critical factors are weighed when deciding between many potential research questions and trial designs.

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Horizon scanning for new genomic tests

Cited by 36 publications

References 46 publications

Genomic Analysis as the First Step toward Personalized Treatment in Renal Cell Carcinoma

Genomic Analysis as the First Step toward Personalized Treatment in Renal Cell Carcinoma

Use of genomic panels to determine risk of developing type 2 diabetes in the general population: a targeted evidence-based review

Getting our priorities straight: a novel framework for stakeholder-informed prioritization of cancer genomics research

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