title: Tumor profiling and the incidentalome: patient decisions and risks.
abstract: In recent years, the field of oncology has witnessed rapid advancements in genetic sequencing simultaneously with steeply declining costs of sequencing technology. As a result, genomics-driven cancer medicine and the use of tumor profiling are quickly becoming mainstays of cancer therapy. Oncology patients can benefit from tumor profiling by allowing the selection of targeted therapies tailored to their disease. However, it is increasingly recognized that the process of determining a tumor DNA sequence may lead to incidental discovery of underlying germline mutations which can impact other aspects of a patient's health, and that of their family. How to handle the 'incidentalome' has been the subject of recent public debate, yet patient education about the potential risks of tumor profiling remains sparse. Patient perspectives and clinical implications of the tumor incidentalome must be specifically addressed by the oncology community as tumor profiling expands to become a new standard of care.
authors.affiliation: Section of Medical Oncology, Yale Cancer Center, Yale School of Medicine, New Haven, CT 06520, USA.
authors.forename: Erin
authors.initials: E
authors.lastname: Hofstatter
authors.affiliation: Section of Medical Oncology, Yale Cancer Center, Yale School of Medicine, New Haven, CT 06520, USA.
authors.forename: Karishma
authors.initials: K
authors.lastname: Mehra
authors.affiliation: Department of Hematology & Medical Oncology, Emory University School of Medicine, Atlanta, GA 30322, USA.
authors.forename: Melinda
authors.initials: M
authors.lastname: Yushak
authors.affiliation: Section of Medical Oncology, Yale Cancer Center, Yale School of Medicine, New Haven, CT 06520, USA.
authors.forename: Lajos
authors.initials: L
authors.lastname: Pusztai
mesh_terms: D020869:Gene Expression Profiling; D005820:Genetic Testing / Q000941:ethics / Q000379:methods; D023281:Genomics / Q000941:ethics / Q000379:methods; D006801:Humans; D033162:Incidental Findings; D009369:Neoplasms / Q000175:diagnosis / Q000235:genetics* / Q000523:psychology; D057240:Patient Preference; D012306:Risk; D059467:Transcriptome; D014342:Truth Disclosure / Q000941:ethics
keywords: cancer genomics; incidental findings; incidentalome; personalized medicine; sequencing; tumor profiling