title: Improving mutation notification when new genetic information is identified in research: a trial of two strategies in familial breast cancer.
abstract: OBJECTIVE
  The Kathleen Cuningham Foundation Consortium for Research into Familial Aspects of Breast Cancer (kConFab) is a large-scale research study that notifies participants when new, personally relevant, information is discovered. In 2009, the (kConFab) instituted an intensive notification process to ensure at-risk individuals were effectively notified. This study (i) evaluated the impact of intensive notification on genetic testing uptake; (ii) identified those most likely to undergo testing postnotification; and (iii) identified those most likely to acknowledge that they had been notified.
  
  
  METHODS
  Clinical/demographic data were retrieved from the (kConFab) database. Logistic regression analyses were conducted to identify potential predictors of testing uptake and notification acknowledgment using IBM SPSS.
  
  
  RESULTS
  A total of 155 of 1,812 individuals underwent testing after standard notification (8.6%). In comparison, 23/291 individuals (7.9%) notified using the "intensive" approach underwent testing (χ(2) = 0.14; P = 0.71). After controlling for notification process, females and participants with a previous cancer were most likely to have undergone testing (P < 0.006). Older individuals (50+ years) were most likely to acknowledge they had been notified (P = 0.038).
  
  
  CONCLUSIONS
  Increasing the intensity of participant follow-up did not increase genetic testing uptake. The challenge to effectively notify participants, and increase the proportion whose risk is managed clinically, remains, particularly for males and individuals unaffected by cancer.Genet Med 2013:15(3):187-194.
authors.affiliation: School of Women's and Children's Health, University of New South Wales, Sydney, Australia. c.wakefield@unsw.edu.au
authors.forename: Claire E
authors.initials: CE
authors.lastname: Wakefield
authors.forename: Heather
authors.initials: H
authors.lastname: Thorne
authors.forename: Judy
authors.initials: J
authors.lastname: Kirk
authors.forename: Eveline
authors.initials: E
authors.lastname: Niedermayr
authors.forename: Emma L
authors.initials: EL
authors.lastname: Doolan
authors.forename: Kathy
authors.initials: K
authors.lastname: Tucker
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001943:Breast Neoplasms / Q000235:genetics*; D005260:Female; D019398:Genes, BRCA1; D024522:Genes, BRCA2; D005820:Genetic Testing; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D033283:Patient Access to Records; D012106:Research; D055815:Young Adult