title: Intersection of biobanking and clinical care: should discrepant diagnoses and pathological findings be returned to research participants?
abstract: Diagnostic discrepancies occur when the diagnosis made on a biospecimen during the course of review at a biobank differs from the original clinical diagnosis. These diagnostic discrepancies detected during biobanking present unique challenges that are distinct from other types of research results or incidental findings. The proposed process for reporting diagnostic discrepancies or pathological incidental findings identified through a quality assurance evaluation at the biobank includes verification of the biospecimen identity, verification of the diagnosis within the biobank, and re-review of the case by the pathologist at the biospecimen collection site. If the pathologist at the biobank and the original pathologist do not reach agreement, an impartial and knowledgeable third party is consulted. The decision as to whether and how to notify research participants of any confirmed changes in diagnosis would be determined by institutional procedures. Implementation of this proposed process will require clear delineation of the roles and responsibilities of all involved parties in order to promote excellence in patient care and ensure that researchers have access to biospecimens of requisite quality.Genet Med 2012:14(4):417-423.
authors.affiliation: Office of Biorepositories and Biospecimen Research, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA. lockhani@mail.nih.gov
authors.forename: Nicole C
authors.initials: NC
authors.lastname: Lockhart
authors.forename: Rihab
authors.initials: R
authors.lastname: Yassin
authors.forename: Carol J
authors.initials: CJ
authors.lastname: Weil
authors.forename: Carolyn C
authors.initials: CC
authors.lastname: Compton
mesh_terms: D035843:Biomedical Research / Q000941:ethics / Q000706:statistics & numerical data*; D003951:Diagnostic Errors / Q000941:ethics / Q000706:statistics & numerical data; D005189:False Positive Reactions; D006801:Humans; D033162:Incidental Findings; D007258:Informed Consent / Q000941:ethics; D008490:Medical Informatics / Q000941:ethics / Q000706:statistics & numerical data*; D010338:Pathology, Clinical / Q000941:ethics / Q000592:standards / Q000706:statistics & numerical data; D035842:Research Subjects; D014015:Tissue Banks / Q000706:statistics & numerical data; D014342:Truth Disclosure / Q000941:ethics