What's in a Name? Parents' and Healthcare Professionals' Preferred Terminology for Pathogenic Variants in Childhood Cancer Predisposition Genes.
Jacqueline D Hunter, Eden G Robertson, Kate Hetherington, David S Ziegler, Glenn M Marshall, Judy Kirk, Jonathan M Marron, Avram E Denburg, Kristine Barlow-Stewart, Meera Warby, Katherine M Tucker, Brittany M Lee, Tracey A O'Brien, Claire E Wakefield
Author Information
Jacqueline D Hunter: Discipline of Paediatrics and Child Health, School of Clinical Medicine, UNSW Medicine and Health, UNSW Sydney, Sydney, NSW 2052, Australia. ORCID
Eden G Robertson: Discipline of Paediatrics and Child Health, School of Clinical Medicine, UNSW Medicine and Health, UNSW Sydney, Sydney, NSW 2052, Australia. ORCID
Kate Hetherington: Discipline of Paediatrics and Child Health, School of Clinical Medicine, UNSW Medicine and Health, UNSW Sydney, Sydney, NSW 2052, Australia. ORCID
David S Ziegler: Discipline of Paediatrics and Child Health, School of Clinical Medicine, UNSW Medicine and Health, UNSW Sydney, Sydney, NSW 2052, Australia. ORCID
Glenn M Marshall: Discipline of Paediatrics and Child Health, School of Clinical Medicine, UNSW Medicine and Health, UNSW Sydney, Sydney, NSW 2052, Australia.
Judy Kirk: The Westmead Institute for Medical Research, Sydney Medical School, University of Sydney, Sydney, NSW 2052, Australia.
Jonathan M Marron: Dana-Farber/Boston Children's Cancer and Blood Disorders Center, Boston, MA 02215, USA. ORCID
Avram E Denburg: Division of Haematology/Oncology, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON M5G 1X8, Canada. ORCID
Kristine Barlow-Stewart: Discipline of Paediatrics and Child Health, School of Clinical Medicine, UNSW Medicine and Health, UNSW Sydney, Sydney, NSW 2052, Australia.
Meera Warby: Hereditary Cancer Centre, Prince of Wales Hospital, Randwick, NSW 2031, Australia.
Katherine M Tucker: Hereditary Cancer Centre, Prince of Wales Hospital, Randwick, NSW 2031, Australia. ORCID
Brittany M Lee: Seattle Children's Hospital and Research Institute, Seattle, WA 98101, USA. ORCID
Tracey A O'Brien: Discipline of Paediatrics and Child Health, School of Clinical Medicine, UNSW Medicine and Health, UNSW Sydney, Sydney, NSW 2052, Australia.
Claire E Wakefield: Discipline of Paediatrics and Child Health, School of Clinical Medicine, UNSW Medicine and Health, UNSW Sydney, Sydney, NSW 2052, Australia. ORCID
Current literature/guidelines regarding the most appropriate term to communicate a cancer-related disease-causing germline variant in childhood cancer lack consensus. Guidelines also rarely address preferences of patients/families. We aimed to assess preferences of parents of children with cancer, genetics professionals, and pediatric oncologists towards terminology to describe a disease-causing germline variant in childhood cancer. Using semi-structured interviews we asked participants their most/least preferred terms from; 'faulty gene,' 'altered gene,' 'gene change,' and 'genetic variant,' analyzing responses with directed content analysis. Twenty-five parents, 6 genetics professionals, and 29 oncologists participated. An equal number of parents most preferred 'gene change,' 'altered gene,' or 'genetic variant' (n = 8/25). Parents least preferred 'faulty gene' (n = 18/25). Half the genetics professionals most preferred 'faulty gene' (n = 3/6); however this was least preferred by the remaining genetics professionals (n = 3/6). Many oncologists most preferred 'genetic variant' (n = 11/29) and least preferred 'faulty gene' (n = 19/29). Participants across all groups perceived 'faulty gene' as having negative connotations, potentially placing blame/guilt on parents/children. Health professionals described challenges selecting a term that was scientifically accurate, easily understood and not distressing to families. Lack of consensus highlights the need to be guided by families' preferred terminology, while providing accurate explanations regarding implications of genetic findings.
