Information Topics of Greatest Interest for Return of Genome Sequencing Results among Women Diagnosed with Breast Cancer at a Young Age

Abstract

We investigated what information women diagnosed with breast cancer at a young age would want to learn when genome sequencing results are returned. We conducted 60 semi-structured interviews with women diagnosed with breast cancer at age 40 or younger. We examined what specific information participants would want to learn across result types and for each type of result, as well as how much information they would want. Genome sequencing was not offered to participants as part of the study. Two coders independently coded interview transcripts; analysis was conducted using NVivo10. Across result types, participants wanted to learn about health implications, risk and prevalence in quantitative terms, causes of variants, and causes of diseases. Participants wanted to learn actionable information for variants affecting risk of preventable or treatable disease, medication response, and carrier status. The amount of desired information differed for variants affecting risk of unpreventable or untreatable disease, with uncertain significance, and not health-related. Women diagnosed with breast cancer at a young age recognize the value of genome sequencing results in identifying potential causes and effective treatments and expressed interest in using the information to help relatives and to further understand their other health risks. Our findings can inform the development of effective feedback strategies for genome sequencing that meet patients’ information needs and preferences.

Assessing patient readiness for personalized genomic medicine

“…Before realizing the benefits of personalized genomics, it is important to understand public perceptions of genomic medicine, anticipated patterns of utilization, preferences for genetic testing, and potential public health benefits (Phillips et al 2008). Several qualitative studies indicate that there is a general anticipation of benefit from the receipt of actionable information about personal risk (Wright et al 2014;Hitch et al 2014;Seo et al 2016). Our data are consistent with these findings, but also suggest that in reality, individuals vary in the specific conditions regarding what information they want and how they want to receive it.…”

How Do Providers Discuss the Results of Pediatric Exome Sequencing with Families?

“…Genetics professionals often focus on communicating genome-based scientific information with less attention to nuanced and variable psychosocial issues [14,17,18]. Such communication involves heavy use of technical jargon that may overwhelm, confuse and frustrate families [19] whose primary concerns center on medical management, daily care and quality of life [20,21]. …”