Background <p>Genetic testing for known familial pathogenic or likely pathogenic germline variants in cancer susceptibility genes is central to identifying relatives at heightened risk for cancer. However, current data suggest that uptake of this practice referred to as “cascade testing” remains suboptimal. Research demonstrates that healthcare providers can alleviate barriers to cascade testing by providing informational resources to facilitate patient-mediated sharing of their genetic test results with their at-risk relatives.</p> Methods <p>We recruited 103 individuals with a pathogenic or likely pathogenic variant in <i>BRCA1</i>or <i>BRCA2 (BRCA1/2).</i> Participants were randomized to receive a family communication guide with or without a 2-minute video (BRCAShare) that describes the concept of a relative’s recent diagnosis of a harmful variant in <i>BRCA1/2</i>, meant to facilitate sharing of results with relatives. All participants were given surveys to assess reactions to and impact of BRCAShare across three domains: (1) participants’ sharing of genetic information and intent to share genetic information; (2) perceived susceptibility to and seriousness of <i>BRCA1/2</i> cancer related risks, benefits, or barriers to intrafamilial sharing of results and cascade testing; (3) the impact of family dynamic on sharing of genetic information.</p> Results <p>The group given access to the BRCAShare video (guide + video) had significantly higher odds of reporting an intent to share and actual sharing with other family members compared to those who did not receive BRCAShare (guide only). Perceptions of cancer risk did not change significantly after viewing BRCAShare, however participants demonstrated strong understanding of risks and benefits of genetic testing at baseline. There was not a significant association between family dynamics and more intent to share.</p> Conclusions <p>Our research suggests that this video message is a useful method for facilitating family sharing of <i>BRCA1</i>/<i>2</i> results.</p>

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BRCAShare: a video-based message can increase sharing of familial genetic test results

  • Katie Riefski,
  • Amber Aeilts,
  • Alexandra Spencer,
  • Sue Friedman,
  • Julia Cooper,
  • Leigha Senter

摘要

Background

Genetic testing for known familial pathogenic or likely pathogenic germline variants in cancer susceptibility genes is central to identifying relatives at heightened risk for cancer. However, current data suggest that uptake of this practice referred to as “cascade testing” remains suboptimal. Research demonstrates that healthcare providers can alleviate barriers to cascade testing by providing informational resources to facilitate patient-mediated sharing of their genetic test results with their at-risk relatives.

Methods

We recruited 103 individuals with a pathogenic or likely pathogenic variant in BRCA1or BRCA2 (BRCA1/2). Participants were randomized to receive a family communication guide with or without a 2-minute video (BRCAShare) that describes the concept of a relative’s recent diagnosis of a harmful variant in BRCA1/2, meant to facilitate sharing of results with relatives. All participants were given surveys to assess reactions to and impact of BRCAShare across three domains: (1) participants’ sharing of genetic information and intent to share genetic information; (2) perceived susceptibility to and seriousness of BRCA1/2 cancer related risks, benefits, or barriers to intrafamilial sharing of results and cascade testing; (3) the impact of family dynamic on sharing of genetic information.

Results

The group given access to the BRCAShare video (guide + video) had significantly higher odds of reporting an intent to share and actual sharing with other family members compared to those who did not receive BRCAShare (guide only). Perceptions of cancer risk did not change significantly after viewing BRCAShare, however participants demonstrated strong understanding of risks and benefits of genetic testing at baseline. There was not a significant association between family dynamics and more intent to share.

Conclusions

Our research suggests that this video message is a useful method for facilitating family sharing of BRCA1/2 results.