Perceptions of the Concept of Mutation among Family Members of Patients Receiving Outpatient Genetic Services and University Students

Abstract

Our objectives were to investigate: (1) relationships between perceptions of various terms regarding mutation and the depth of knowledge regarding mutation among family members of patients receiving genetic outpatient services, and (2) differences in perceptions of the term "gene mutation" for family members versus university students. Fifty-eight family members and 178 university students responded to two questionnaires: Impressions regarding the term, and Knowledge about the concept of mutation. Factor analyses were conducted to determine the factor structure of ratings of the terms, and two-way analyses of variance [(1)Term, (2)Group x Knowledge] were conducted to examine differences in perceptions of the terms as measured by scores for each extracted factor. Family members had a significantly more negative perception of the term "gene mutation" than "gene change" and a less negative perception of the term "gene mutation" than "gene lesion"; they had significantly more negative perceptions of the term "gene mutation" than did university students.

What’s in a Name? Parents’ and Healthcare Professionals’ Preferred Terminology for Pathogenic Variants in Childhood Cancer Predisposition Genes

“…This has caused incorrect public perception that ‘mutation’ is synonymous with disease-causing [ 14 ]. There is now a substantial body of evidence suggesting ‘mutation’ is widely misunderstood and carries strong negative connotations to patients and their families [ 13 , 17 , 18 , 19 , 20 , 21 , 22 ]. Labeling a patient with a CPS as carrying a ‘mutation’ may therefore lead to negative psychosocial impacts, including increased anxiety and feelings of guilt [ 20 , 21 ].…”