“Not Tied Up Neatly with a Bow”: Professionals’ Challenging Cases in Informed Consent for Genomic Sequencing

Increased usage of exome and genome sequencing has made uncertainties associated with genomic sequencing methods more prevalent within medicine. Current research focuses on patients' perceptions of uncertainty related to genomic sequencing, but there is limited knowledge of the perspectives of providers. The aim of this study was to explore how professionals in genomics perceive uncertainties involved in genomic sequencing, and if or how this impacts their approach to pretest counseling. We performed 20 semi‐structured interviews with genetic counselors in the United States and Canada who provide pretest genetic counseling for genomic sequencing. Interviews explored participating genetic counselors' views of uncertainty regarding genomic sequencing, how they classify it, how it manifests, and how they manage it during pretest counseling. Thematic analysis showed that genetic counselors acknowledge concepts of uncertainty that map to existing frameworks of uncertainty for genomic sequencing. Genetic counselors also perceived incongruencies between patients' and providers' expectations of genomic sequencing, which prompted them to modify patients' perceptions of uncertainty related to genomic sequencing. All genetic counselors agreed that guidance and strategies for genomic sequencing pretest counseling would be helpful, particularly for novice genetic counselors and non‐genetics providers. These findings highlight the need and potential for conceptual models of uncertainty and uncertainty management strategies to facilitate patient‐centered pretest counseling for genomic sequencing.

Section: Discussionsupporting

confidence: 70%

Section: The Place Of Managing Uncertainty In Genetic Counseling Sementioning

confidence: 99%

Genetic counselors' perceptions of uncertainty in pretest counseling for genomic sequencing: A qualitative study

Park

Zayhowski

Newson

et al. 2019

“…Many of my experiences of counseling, consenting and returning results from WES are similar to those of other counselors pioneering in this field. The CSER Genetic Counseling working group has recently published several manuscripts illustrating the unique challenges of WES counseling (Amendola et al 2015;Tomlinson et al 2015). Tomlinson and colleagues (2015) surveyed genetic counselors and healthcare providers in the CSER consortium about their experience of obtaining informed consent for WES.…”

Section: Practice Implicationsmentioning

confidence: 99%

Genomic Testing: a Genetic Counselor's Personal Reflection on Three Years of Consenting and Testing

Wynn

2015

Whole exome sequencing (WES) is increasingly used in research and clinical genetics as the cost of sequencing decreases and the interpretation improves. Genetic counselors need to be prepared to counsel a diverse patient population for this complex test. This commentary is a reflection of one genetic counselor’s experiences in counseling, consenting, and returning results for clinical and research WES for over 120 participants and patients. She reflects on how she overcame the initial challenges and concerns of counseling for WES and how her counseling evolved hfrom a teaching based counseling model to an interactive patient-center counseling model. Her insights are offered to prepare other genetic counselors for the growing use of genomic testing.

“…Consent conversations with parents can also be complicated by the involvement of children in providing assent and the possible implications for parents and relatives when trio testing is ordered (Bernhard et al, ; Levenseller et al, ). Furthermore, families of children affected with developmental delays and/or rare undiagnosed conditions often have high expectations for the diagnostic capability of sequencing that may inhibit their ability to fully accept the limitations of testing (Tomlinson et al, ).…”

Section: Introductionmentioning

confidence: 99%

Challenges to informed consent for exome sequencing: A best–worst scaling experiment

Gore

Bridges

Cohen

et al. 2019

As exome sequencing expands as a diagnostic tool, patients and providers have voiced concerns about communicating the breadth and scope of potential results when obtaining informed consent. This study aimed to understand how genetic counselors prioritize essential components of the informed consent process and whether counselor factors influence these decisions. Development of a best–worst scaling experiment was informed by a systematic literature review and two focus groups. In all, 11 choice sets were created using a balanced incomplete block design, where participants selected the most and least important object in each set. Mean best–worst (BW) scores were calculated to summarize the relative importance of each object, and mediation analyses assessed whether responses were associated with genetic counselor factors and attitudes. In all, 342 members of the National Society of Genetic Counselors completed the online survey. Ranking of BW scores suggests that participants prioritize collaborative decision‐making, assessing understanding and managing expectations, with the least emphasis placed on discussing technological complexities. Stratified analyses found that counselors more experienced with obtaining informed consent for exome sequencing and those reporting higher perceptions of patients’ ability to manage information rated discussing variants of uncertain significance as significantly more important (p < .05). Our results suggest that genetic counselors report intentions to prioritize individual patient needs when obtaining informed consent for exome sequencing. Professional characteristics and attitudes may influence preemptive discussion of uncertain results.