What genome sequencing results do young breast cancer patients want returned and when?

Introduction. Genome sequencing raises the communication challenge of returning different types of results. To develop policies for returning results, we investigated what genome sequencing results young breast cancer patients would want returned and when, since various results could be relevant at different life stages, and factors affecting these preferences.   

Methods. 1075 women diagnosed with breast cancer age 40 or younger completed an online survey.  We examined level of interest and preferred timing for return of seven types of genome sequencing results. We built multivariable logistic regression models to assess whether genome sequencing knowledge, worry about genetic-based disease risk, and time orientation (present/future) predicted being very interested in each result type. 

Results. The proportion very interested in each result type ranged from 77% (variants affecting risk of a preventable/ treatable disease) to 16% (variants with uncertain meaning).  The proportion that wanted a result type returned before or at cancer diagnosis ranged from 96% (variants affecting treatment response) to 31% (variants related to ancestry/ physical traits).  In multivariable models, higher knowledge (p-values <0.0001) and greater worry (p-values <0.01) were related to being very interested in all result types.  Being future oriented was related to being very interested in six of seven types (p-values <0.05).   

Discussion. Participants’ widely varying preferences for return of genome sequencing results varied by knowledge, worry, and time orientation.  A one-size-fits-all policy to return of results will likely not meet these patients’ needs.  Tailored interventions may be needed to help patients make informed choices about return of results.