title: Pedigree construction and disease confirmation: a pilot study in Wales exploring the role of nonclinical personnel.
abstract: Pedigree construction and disease confirmation are the means by which reported family histories are translated into a verified clinical tool informing risk assessment and management decisions by clinical genetics staff. In this study, we hypothesised that pedigree generation data processes do not generally require the clinical expertise of genetic counsellors and that they could be successfully transferred to nonclinical data administrators. We made a pragmatic comparison of two processes of pedigree generation by different personnel from 14 consecutive family history questionnaires containing 88 living and decease affected individuals. The pedigrees generated by the genetic counsellor and the data administrator were compared; discrepancies were quantified and their source determined. The information gathered by the data administrator mirrored that of the genetic counsellors in 89% of cases. Time was saved by permitting direct access to cancer registry and local oncology centre databases. Constructing a pedigree is not always a case of transferring clear-cut data. Decisions need to be made about which cancers to confirm. Notable differences emerged in the number of pieces of information not transferred. Ambiguous information was often interpreted differently, suggesting the need for clinical staff to review pedigrees after their initial plotting by the data administrator. This study demonstrates a good degree of concordance between pedigrees constructed by a nonclinical data administrator and those of experienced genetic counsellors. However, the redirection of all pedigree activity to nonclinical personnel up to the point of risk review is not possible at present.
authors.affiliation: Institute of Medical Genetics, School of Medicine, Cardiff University, Cardiff, UK.
authors.forename: Vanessa
authors.initials: V
authors.lastname: Tempest
authors.forename: Rachel
authors.initials: R
authors.lastname: Iredale
authors.forename: Jonathon
authors.initials: J
authors.lastname: Gray
authors.forename: Liz
authors.initials: L
authors.lastname: France
authors.forename: Sally
authors.initials: S
authors.lastname: Anstey
authors.forename: John
authors.initials: J
authors.lastname: Steward
mesh_terms: D005817:Genetic Counseling / Q000379:methods*; D008040:Genetic Linkage; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D006801:Humans; D008487:Medical History Taking / Q000379:methods*; D009369:Neoplasms / Q000235:genetics; D010375:Pedigree; D010865:Pilot Projects; D012042:Registries; D012189:Retrospective Studies; D018570:Risk Assessment; D011795:Surveys and Questionnaires; D014852:Wales