title: How do index patients participating in genetic screening programmes for familial hypercholesterolemia (FH) interpret their DNA results? A UK-based qualitative interview study.
abstract: OBJECTIVE
  To explore patients' interpretations of their DNA results for familial hypercholesterolemia (FH).
  
  
  METHODS
  In-depth interviews were conducted with patients from two lipid clinics in Scotland, who were offered genetic testing as part of a nationwide cascade screening service.
  
  
  RESULTS
  Patients were receptive to taking part in genetic screening and most expected a positive result. Receiving a molecular diagnosis of FH could provide reassurance to patients that diet and lifestyle factors were not the primary causes of their condition. Patients who received inconclusive results tended to interpret this as meaning that their high cholesterol was not genetic, which could induce feelings of uncertainty and self-blame. With the exception of newly diagnosed patients, for whom a positive result could provide a useful rationale for initiating statins, most perceived DNA screening to be of little relevance to their own medication use or their own approaches to lifestyle management.
  
  
  CONCLUSIONS
  Index patients are likely to view DNA screening for FH as non-threatening. Receiving a positive DNA result can be reassuring for patients. Patients may not, however, interpret inconclusive DNA results correctly.
  
  
  CONCLUSIONS
  Health professionals need to ensure FH index patients are prepared to receive, and fully understand, inconclusive DNA results.
authors.affiliation: Centre for Population Health Sciences, University of Edinburgh, Edinburgh, UK.
authors.forename: Nicholas
authors.initials: N
authors.lastname: Jenkins
authors.forename: Julia
authors.initials: J
authors.lastname: Lawton
authors.forename: Margaret
authors.initials: M
authors.lastname: Douglas
authors.forename: Simon
authors.initials: S
authors.lastname: Walker
authors.forename: Robert
authors.initials: R
authors.lastname: Finnie
authors.forename: Mary
authors.initials: M
authors.lastname: Porteous
authors.forename: Nina
authors.initials: N
authors.lastname: Hallowell
mesh_terms: D000328:Adult; D000368:Aged; D004247:DNA; D005260:Female; D005820:Genetic Testing; D007722:Health Knowledge, Attitudes, Practice; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000235:genetics* / Q000523:psychology*; D007407:Interviews as Topic; D008297:Male; D008875:Middle Aged; D010465:Perception; D036301:Qualitative Research; D012606:Scotland
chemical_list: D004247:DNA