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Use of Whole-Exome Sequencing to Guide the Care of Cancer Patients

Hastings Investigator: Sarah McGraw, subcontract to Dana-Farber Cancer Institute

Funder: National Institutes of Health

The overarching goal of this project is to define and disseminate an evidence-based paradigm for the rational integration of genetic information into the care of patients with cancer. One aim is to conduct an ethnography of the committee charged with developing and refining a process for providing results of whole exome sequencing back to treating oncologists and their patients. The committee, the Cancer Genomics Evaluation Committee (CGEC), will review sequencing data to assess the predictive, prognostic, cancer-susceptibility, and incidental findings, as well as to determine if findings are potentially actionable or if they provide information about disease risk, pharmacogenetic polymorphisms, prognosis, or disease carrier status. Specifically, CGEC will guide decisions about which results should be returned to oncologists and potentially to patients. The committee’s deliberations will result in the development of policies and institutional practice guidelines over time. Decisions made by this committee will have a profound impact on test validation and test utilization procedures, as well as on the clinical questions and decisions that oncologists and patients face. The process of deriving “case law” and of designing and implementing systems that meet the needs of patients, clinicians, and the institution will contain innumerable lessons that can inform and smooth the integration of sequencing into cancer care. Those lessons are being identified through extensive ethnographic observation and analysis of CGEC’s activities and deliberations to understand the individual, system, and scientific factors that it considers when confronting clinical, psychosocial, and ethical uncertainty or dilemmas.