SUPPORTING DECISION-MAKING IN WHOLE GENOME/EXOME SEQUENCING (WGS/ES): EXPLORING PARENTS' PERSPECTIVES LI, Karen C., BSN, aDepartment
a,b RN;
a RN;
b RN;
BIRCH, Patricia, MSc, GARRETT, Bernie, PhD, MACPHEE, Maura, PhD, a a ADAM, Shelin, MSc; FRIEDMAN, Jan M., MD, PhD
b RN;
of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada; bSchool of Nursing, University of British Columbia, Vancouver, British Columbia, Canada
INTRODUCTION & BACKGROUND Whole genome/exome sequencing (WGS/ES) is a new technology that sequences all or part of a person’s DNA. As WGS/ES becomes more affordable it will become more frequently used in many clinical settings, including for diagnosing rare childhood diseases. However, its use means that parents are facing decisions that could uncover life-changing information, unrelated to their child’s illness that may have personal and ethical implications for their families. Parents’ perspectives about their informational, decisional and decision support needs are largely unexplored. WGS/ES can reveal the following types of results: Primary Findings: the genetic variant responsible for causing the symptoms •E.g., diagnose a child with an unknown condition Incidental Findings: other genetic variants that are unrelated to the initial reason for investigation •E.g., find a mutation in the gene for breast cancer, or discover non-paternity Variants of Unknown Significance: other genetic information that doesn’t have meaning or significance at this time
PURPOSE The purpose of this study was to examine parents’ decisional needs prior to consenting to WGS/ES for their child, thereby helping to understand current decision-making processes and informing decision support tools and counselling in the clinical setting.
METHOD
Interpretive Description (Thorne, Kirkham, & Mac-Donald-Emes, 1997), Shared decisionmaking (Elwyn et al., 2010), and the Ottawa Decision Support Framework (Ottawa Hospital Research Institute, 2012). guided and informed this study. Parents of children who had previously been offered WGS/ES were invited to participate in a focus group or individual interviews. Parents had children with a range of undiagnosed conditions suspected to be genetic in origin. 15 parents were interviewed and transcriptions were analyzed concurrently and iteratively using NVivo 10. Repeat interviews were conducted with 5 of the parents to confirm, challenge or expand on the developing conceptualizations.
RESULTS
Parents felt their decision to proceed with WGS/ES required little or no thought. However, parents had some unmet decision support needs that emerged later, including a personal lack of knowledge about certain topics that were later relevant and important to them despite being given what many described to be a high volume of information.
CONCLUSIONS Support parents’ over time beyond
the one encounter where the decisionmaking occurred. Address parents’ informational AND psychosocial needs Importance of the HCP-parent relationship Develop strategies that avoid making people feel overwhelmed with too much information but at the same time enable them to make more meaningful and well-informed decisions
RELEVANCE TO NURSING
• Nurses are well situated to incorporate genetic and genomic information across the lifespan and all aspects of the healthcare system • Nursing brings a valuable perspective to the application of genomics through nurses’ emphasis on patient advocacy, health promotion, caring, the understanding of individuals, their relationships with patients, families, the community and society • Genomic technologies have far-reaching applications in health promotion, disease prevention, diagnostic and treatment strategies. Thus, continued efforts to educate nurses about genomics are needed. Contact: Karen.Li@alumni.ubc.ca