title: Communicating genetic test results within the family: Is it lost in translation? A survey of relatives in the randomized six-step study.
abstract: Genetic testing for cancer susceptibility genes is increasingly being integrated into medical care. Test results help inform risks of the individual being tested as well as family members who could benefit from knowing the results. The responsibility for informing relatives of genetic test results falls on the proband, the first family member being tested. However, there are several challenges associated with sharing genetic test results within families including incomplete understanding of test results, emotional distance among family members, and poor communication skills. In this paper we describe the communication process between probands randomized to receive BRCA1/2 genetic test results in an enhanced versus a standard of care counseling session, and their first degree relatives with whom they shared results. We contacted 561 first degree relatives of probands who had undergone BRCA1/2 genetic testing to measure their level of understanding of the test results, their difficulty and distress upon hearing the results, the impact of the test results on their risk perception, and their intention to pursue genetic counseling/testing. 82.1 % of relatives correctly reported the test results of their proband. Distress upon hearing the test result was highest for those relatives whose proband received informative test results. Relatives reported a decrease in cancer risk perception after hearing the test results, regardless of the type of result. Intention to pursue counseling/testing was low, even among those relatives whose proband received informative test results. Male relatives were less likely to be informed of test results and more likely to forget hearing them. These results suggest ways to improve the communication process within families.
authors.affiliation: Department of Clinical Genetics, Timothy R. Talbot Jr. Chair for Cancer Research, Fox Chase Cancer Center, 333 Cottman Avenue, Philadelphia, PA, 19111, USA. Mary.Daly@fccc.edu.
authors.forename: Mary B
authors.initials: MB
authors.lastname: Daly
authors.affiliation: Risk Assessment Program, Department of Clinical Genetics, Fox Chase Cancer Center, 333 Cottman Avenue, Philadelphia, PA, 19111, USA.
authors.forename: Susan
authors.initials: S
authors.lastname: Montgomery
authors.affiliation: Department of Clinical Genetics, Fox Chase Cancer Center, 333 Cottman Avenue, Philadelphia, PA, 19111, USA.
authors.forename: Ruth
authors.initials: R
authors.lastname: Bingler
authors.affiliation: Department of Biostatistics, Fox Chase Cancer Center, 333 Cottman Avenue, Philadelphia, PA, 19111, USA.
authors.forename: Karen
authors.initials: K
authors.lastname: Ruth
mesh_terms: D019313:BRCA1 Protein / Q000235:genetics; D024682:BRCA2 Protein / Q000235:genetics; D001943:Breast Neoplasms / Q000235:genetics*; D003142:Communication; D005190:Family / Q000523:psychology; D005260:Female; D005817:Genetic Counseling; D020022:Genetic Predisposition to Disease / Q000523:psychology*; D005820:Genetic Testing; D007722:Health Knowledge, Attitudes, Practice; D006801:Humans; D008297:Male
chemical_list: D019313:BRCA1 Protein; C492913:BRCA1 protein, human; D024682:BRCA2 Protein; C551750:BRCA2 protein, human
keywords: BRCA1/2; Cancer risk; Family communication; Genetic testing