Preferences for return of incidental findings from genome sequencing among women diagnosed with breast cancer at a young age

Abstract

While experts have made recommendations, information is needed regarding what genome sequencing results patients would like returned. We investigated what results women diagnosed with breast cancer at a young age would want returned and why. We conducted 60 semi-structured, in-person individual interviews with women diagnosed with breast cancer at age 40 or younger. We examined interest in six types of incidental findings and reasons for interest or disinterest in each type. Two coders independently coded interview transcripts; analysis was conducted using NVivo 10. Most participants were at least somewhat interested in all six result types, but strongest interest was in actionable results (i.e., variants affecting risk of a preventable or treatable disease and treatment response). Reasons for interest varied between different result types. Some participants were not interested or ambivalent about results not seen as currently actionable. Participants wanted to be able to choose what results are returned. Participants distinguished between types of individual genome sequencing results, with different reasons for wanting different types of information. The findings suggest that a focus on actionable results can be a common ground for all stakeholders in developing a policy for returning individual genome sequencing results.

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

“…We recruited a purposive sample of 60 adult women from an existing nationwide cohort of women diagnosed with breast cancer at age 40 or younger, the Young Women’s Breast Cancer Program (YWBCP) (Kaphingst et al 2016). YWBCP participants in the St. Louis region were contacted by e-mail, letter, and e-newsletter.…”

“…The recruitment materials stated the purpose of the study (i.e., to learn more about how best to return genetic information to women who have been diagnosed with breast cancer at a young age) and expressed interest in participation from women with differing viewpoints, regardless of prior experience with genetic testing. Recruitment was stratified into four subgroups by family history of breast cancer, having received genetic testing, and BRCA1/2 mutation status, described in detail elsewhere (Kaphingst et al 2016). Recruitment was stratified so that we could explore differences among the participant subgroups.…”

“…The American College of Medical Genetics and Genomics (ACMG) has recommended what results to return after clinical sequencing (Green et al 2013). In addition, prior research has shown that patients want to receive individual results from genome sequencing (Kaphingst et al 2016; Matsui et al 2008; Murphy et al 2008; O’Daniel and Haga 2011), although findings regarding what specific types of results patients want returned are mixed (Hitch et al 2014; Kaphingst et al 2016; Leventhal et al 2013; Wright et al 2014; Yu et al 2014). However, much less is known about what information patients would like to learn about each genome sequencing result when it is returned (Bredenoord et al 2011; Dressler 2009a, b).…”

Managing unsolicited findings in genomics: A qualitative interview study with cancer patients

“…Several studies have shown that patients are generally positive about receiving unsolicited findings . This also holds true for cancer patients, but research suggests that patients become more cautious to receive all types of risk information when they are informed about the potential consequences for themselves and their family members . The possibility of encountering unsolicited findings makes clinical decision making in oncology even more complex, and a thoughtful disclosure policy is needed.…”

“Is It Worth Knowing?” Focus Group Participants’ Perceived Utility of Genomic Preconception Carrier Screening

“…At the genome scale, we may expect a relatively high yield of findings per person because we can interrogate the majority of the exome or genome (Biesecker and Green 2014). Additionally, genome sequencing can provide information on incidental findings—conditions that would not impact a future child’s health, but that impact the patient directly such as mutations in BRCA1/2 that increase risk for hereditary breast and ovarian cancer (Green et al 2013; Kaphingst et al 2015; Regier et al 2015; Bennette et al 2013). Thus, carrier screening using genome sequencing (either whole genome or whole exome, which we will refer to as “genomic carrier screening”) could identify more mutations than panel screening and, as a result, identify more couples at risk of bearing children affected by genetic conditions.…”