title: Family communication matters: the impact of telling relatives about unclassified variants and uninformative DNA-test results.
abstract: BACKGROUND
  Unclassified variant and uninformative BRCA1/2 results are not only relevant for probands to whom results are disclosed but also for untested relatives. Previous studies have seldom included relatives and have not explained how their lives were influenced by these results. We explored the family communication timeline of genetic counseling: (1) genetic counselors communicate the relatives' cancer risk, (2) probands perceive this risk and (3) communicate this to relatives; (4) relatives perceive this information, and (5) experience an impact on their lives.
  
  
  METHODS
  We conducted a retrospective descriptive study in 13 probands with an unclassified variant and 5 with an uninformative result, and in, respectively, 27 and 12 of their untested female relatives from moderate cancer risk families. In questionnaires, probands described their perception of the DNA-test result (i.e., recollections and interpretations of cancer risks and heredity likelihood). Relatives described the communication process, their perception, and impact (i.e., medical decisions, distress, quality of life, and life changes). Bootstrap analysis was used to analyze mediation effects.
  
  
  RESULTS
  The relatives' own perception strongly predicted breast self-examination, breast/ovarian surveillance or surgery, levels of distress and quality of life, and amount of reported life changes. The extent to which the proband had communicated the DNA-test result in an understandable, direct, reassuring way, predicted the relatives' perception. The actual communicated relatives' cancer risks or the proband's perception did not predict relatives' perception and impact measures. Family characteristics influenced the communication process but not the relatives' perception and outcomes.
  
  
  CONCLUSIONS
  Relatives seem to make poorly informed decisions on the basis of their own perception, which was unrelated to the information that probands had communicated on the basis of the actual communicated result. Therefore, genetic counselors may guide probands in the communication process and may directly inform relatives, if possible.
authors.affiliation: Department of Clinical Genetics, Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands. j.vos@lumc.nl
authors.forename: Joël
authors.initials: J
authors.lastname: Vos
authors.forename: Anna M
authors.initials: AM
authors.lastname: Jansen
authors.forename: Fred
authors.initials: F
authors.lastname: Menko
authors.forename: Christi J
authors.initials: CJ
authors.lastname: van Asperen
authors.forename: Anne M
authors.initials: AM
authors.lastname: Stiggelbout
authors.forename: Aad
authors.initials: A
authors.lastname: Tibben
mesh_terms: D003142:Communication; D004252:DNA Mutational Analysis; D030881:Disclosure; D005190:Family; D005192:Family Health; D005260:Female; D005817:Genetic Counseling; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing / Q000523:psychology*; D006801:Humans; D012189:Retrospective Studies; D011795:Surveys and Questionnaires