title: The Spectrum of Clinical Utilities in Molecular Pathology Testing Procedures for Inherited Conditions and Cancer: A Report of the Association for Molecular Pathology.
abstract: Clinical utility describes the benefits of each laboratory test for that patient. Many stakeholders have adopted narrow definitions for the clinical utility of molecular testing as applied to targeted pharmacotherapy in oncology, regardless of the population tested or the purpose of the testing. This definition does not address all of the important applications of molecular diagnostic testing. Definitions consistent with a patient-centered approach emphasize and recognize that a clinical test result's utility depends on the context in which it is used and are particularly relevant to molecular diagnostic testing because of the nature of the information they provide. Debates surrounding levels and types of evidence needed to properly evaluate the clinical value of molecular diagnostics are increasingly important because the growing body of knowledge, stemming from the increase of genomic medicine, provides many new opportunities for molecular testing to improve health care. We address the challenges in defining the clinical utility of molecular diagnostics for inherited diseases or cancer and provide assessment recommendations. Starting with a modified analytic validity, clinical validity, clinical utility, and ethical, legal, and social implications model for addressing clinical utility of molecular diagnostics with a variety of testing purposes, we recommend promotion of patient-centered definitions of clinical utility that appropriately recognize the valuable contribution of molecular diagnostic testing to improve patient care.
authors.affiliation: Association for Molecular Pathology's Framework for the Evidence Needed to Demonstrate Clinical Utility Task Force, Bethesda, Maryland; Department of Pathology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, Massachusetts.
authors.forename: Loren
authors.initials: L
authors.lastname: Joseph
authors.affiliation: Association for Molecular Pathology's Framework for the Evidence Needed to Demonstrate Clinical Utility Task Force, Bethesda, Maryland; Department of Pathology and Laboratory Medicine, Henry Ford Hospital, Detroit, Michigan.
authors.forename: Milena
authors.initials: M
authors.lastname: Cankovic
authors.affiliation: Association for Molecular Pathology's Framework for the Evidence Needed to Demonstrate Clinical Utility Task Force, Bethesda, Maryland; MAWD Pathology Group, PA, North Kansas City, Missouri.
authors.forename: Samuel
authors.initials: S
authors.lastname: Caughron
authors.affiliation: Association for Molecular Pathology's Framework for the Evidence Needed to Demonstrate Clinical Utility Task Force, Bethesda, Maryland; PathGroup, LLC, Brentwood, Tennessee.
authors.forename: Pranil
authors.initials: P
authors.lastname: Chandra
authors.affiliation: Association for Molecular Pathology's Framework for the Evidence Needed to Demonstrate Clinical Utility Task Force, Bethesda, Maryland; Department of Pathology, College of Medicine, University of Illinois at Chicago, Chicago, Illinois.
authors.forename: Rajyasree
authors.initials: R
authors.lastname: Emmadi
authors.affiliation: Association for Molecular Pathology's Framework for the Evidence Needed to Demonstrate Clinical Utility Task Force, Bethesda, Maryland; 23andMe, Inc., Mountain View, California.
authors.forename: Jill
authors.initials: J
authors.lastname: Hagenkord
authors.affiliation: Association for Molecular Pathology's Framework for the Evidence Needed to Demonstrate Clinical Utility Task Force, Bethesda, Maryland; Good Start Genetics, Inc., Cambridge, Massachusetts.
authors.forename: Stephanie
authors.initials: S
authors.lastname: Hallam
authors.affiliation: Association for Molecular Pathology's Framework for the Evidence Needed to Demonstrate Clinical Utility Task Force, Bethesda, Maryland; Tara Center, LLC, Stevens Point, Wisconsin.
authors.forename: Kay E
authors.initials: KE
authors.lastname: Jewell
authors.affiliation: Association for Molecular Pathology's Framework for the Evidence Needed to Demonstrate Clinical Utility Task Force, Bethesda, Maryland; Department of Molecular Pathology, Cleveland Clinic, Cleveland, Ohio.
authors.forename: Roger D
authors.initials: RD
authors.lastname: Klein
authors.affiliation: Association for Molecular Pathology's Framework for the Evidence Needed to Demonstrate Clinical Utility Task Force, Bethesda, Maryland; Department of Medical and Molecular Genetics, School of Medicine, Indiana University, Indianapolis, Indiana.
authors.forename: Victoria M
authors.initials: VM
authors.lastname: Pratt
authors.affiliation: Association for Molecular Pathology's Framework for the Evidence Needed to Demonstrate Clinical Utility Task Force, Bethesda, Maryland; Department of Pathology and Laboratory Medicine, School of Medicine and Dentistry, University of Rochester Medical Center, Rochester, New York.
authors.forename: Paul G
authors.initials: PG
authors.lastname: Rothberg
authors.affiliation: Association for Molecular Pathology, Bethesda, Maryland.
authors.forename: Robyn L
authors.initials: RL
authors.lastname: Temple-Smolkin
authors.affiliation: Association for Molecular Pathology's Framework for the Evidence Needed to Demonstrate Clinical Utility Task Force, Bethesda, Maryland; Department of Pathology, University of Utah School of Medicine and ARUP Laboratories, Salt Lake City, Utah. Electronic address: lyone@aruplab.com.
authors.forename: Elaine
authors.initials: E
authors.lastname: Lyon
mesh_terms: D058070:Asymptomatic Diseases; D002986:Clinical Trials as Topic; D003695:Delivery of Health Care; D030342:Genetic Diseases, Inborn / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans; D008495:Medical Oncology; D025202:Molecular Diagnostic Techniques; D009369:Neoplasms / Q000175:diagnosis* / Q000235:genetics*; D057089:Pathology, Molecular; D011379:Prognosis