Precision Medicine in Oncology—Toward the Integrated Targeting of Somatic and Germline Genomic Aberrations
Menée à partir de données génomiques portant sur 1 138 patients atteints d'une tumeur solide de stade avancé, cette étude évalue, du point de vue du taux de variants pathogènes constitutionnels détectés pouvant constituer une cible thérapeutique et de la réponse au traitement, l'intérêt des techniques de séquençage de nouvelle génération
The successful practice of precision medicine requires the clinical integration of a trifecta of (1) molecular testing of patients, (2) interpretation of molecular profiling results and identification of matched therapies, and (3) treatment of patients with molecularly targeted agents and other therapies. Each of these key areas is complex and requires myriad considerations that are dependent on available technology, expertise, infrastructure, funding, and clinical need. Genomic panel testing, with a predetermined set of genes and biomarkers, is generally used as opposed to whole-exome or whole-genome sequencing owing to decreased costs and increased availability and to limit an overburden of information that is not clinically actionable. While larger panels and those with multianalyte testing give rise to a greater potential for identifying therapeutic targets, they also create more information for the physician to sift through and determine which, if any, alterations should be considered actionable. Some companies that provide comprehensive genomic profiling include interpretation of variant actionability along with therapeutic options in their report. However, the extent of information is variable, and some reports lack this information altogether. Thus, dedicated clinical decision support teams have been created at some institutions.
JAMA Oncology , éditorial en libre accès, 2020