Senior Scientist The Hospital for Sick Children; University of Toronto (Canada), Canada
Genome sequencing (GS) is emerging as the most robust strategy for achieving timely diagnoses in undiagnosed rare disease populations. However, for complex diagnostics to be accepted into practice and receive reimbursement, evidence of utility is required. Since the concept of utility in genetic medicine is not uniformly defined, generating and evaluating evidence of utility is complex. Using established measurement science principles, novel validated measures of personal and clinical utility will be presented to equip clinicians, researchers, and policy makers with a set of tools needed to quantify and adjudicate the value of genomic tests from a range of perspectives.
From a patient perspective, measurement strategies to date build on the significant evidence base suggesting that there are personal gains from learning GS results, even in the absence of health outcome impacts. The Adult Personal Utility (PrU) scale was developed and validated through the NIH-funded Clinical Sequencing Evidence Generating Research (CSER) consortium, for healthy adults who received GS results. Among parents of children with rare undiagnosed conditions, personal utility has also been assessed using the Parent PrU scale. Further validation of the adult and parent PrU is underway in the U.K and Australia.
Authors: Robin Z. Hayeems, The Hospital for Sick Children, University of Toronto; Erin Turbitt, University of Technology Sydney; Barbara Biesecker, NIH/Johns Hopkins Genetic Counseling Graduate Program; Hadley Smith, Harvard Medical School and Harvard Pilgrim Health Care Institute; Jada Hamilton, Memorial Sloan Kettering Cancer Center; Lena Dolman, The Hospital for Sick Children, The University of Toronto
