Physician interpretation of genomic test results and treatment selection
Autor: | Rodabe N. Amaria, Beate C. Litzenburger, Funda Meric-Bernstam, Mark J. Routbort, Amber Johnson, Cathy Eng, John Mendelsohn, Yekaterina B. Khotskaya, Lauren Brusco, Elmer V. Bernstam, Vijaykumar Holla, Kenna R. Mills Shaw, Jia Zeng, Nora S. Sanchez, Ann Marie Bailey, Chetna Wathoo, Gordon B. Mills, Bryan K. Kee |
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Rok vydání: | 2017 |
Předmět: |
0301 basic medicine
Cancer Research medicine.medical_specialty business.industry Treatment options Precision medicine medicine.disease_cause Clinical trial 03 medical and health sciences 030104 developmental biology 0302 clinical medicine Germline mutation Unknown Significance Oncology Precision oncology 030220 oncology & carcinogenesis Internal medicine medicine Personalized medicine KRAS business |
Zdroj: | Cancer. 124:966-972 |
ISSN: | 0008-543X |
Popis: | BACKGROUND Genomic testing is increasingly performed in oncology, but concerns remain regarding the clinician's ability to interpret results. In the current study, the authors sought to determine the agreement between physicians and genomic annotators from the Precision Oncology Decision Support (PODS) team at The University of Texas MD Anderson Cancer Center in Houston regarding actionability and the clinical use of test results. METHODS On a prospective protocol, patients underwent clinical genomic testing for hotspot mutations in 46 or 50 genes. Six months after sequencing, physicians received questionnaires for patients who demonstrated a variant in an actionable gene, investigating their perceptions regarding the actionability of alterations and clinical use of these findings. Genomic annotators independently classified these variants as actionable, potentially actionable, unknown, or not actionable. RESULTS Physicians completed 250 of 288 questionnaires (87% response rate). Physicians considered 168 of 250 patients (67%) as having an actionable alteration; of these, 165 patients (98%) were considered to have an actionable alteration by the PODS team and 3 were of unknown significance. Physicians were aware of genotype-matched therapy available for 119 patients (71%) and 48 of these 119 patients (40%) received matched therapy. Approximately 46% of patients in whom physicians regarded alterations as not actionable (36 of 79 patients) were classified as having an actionable/potentially actionable mutation by the PODS team. However, many of these were only theoretically actionable due to limited trials and/or therapies (eg, KRAS). CONCLUSIONS Physicians are aware of recurrent mutations in actionable genes on “hotspot” panels. As larger genomic panels are used, there may be a growing need for annotation of actionability. Decision support to increase awareness of genomically relevant trials and novel treatment options for recurrent mutations (eg, KRAS) also are needed. Cancer 2017. © 2017 American Cancer Society. |
Databáze: | OpenAIRE |
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