Germline whole genome sequencing in pediatric oncology in Denmark—Practitioner perspectives

• Published in: Molecular genetics & genomic medicine Vol. 8; no. 8; pp. e1276 - n/a
• Main Authors: Byrjalsen, Anna, Stoltze, Ulrik K., Castor, Anders, Wahlberg, Ayo
• Format: Journal Article
• Language: English
• Published: United States John Wiley & Sons, Inc 01.08.2020; John Wiley and Sons Inc; Wiley
• Subjects: Adult; Cancer; clinical genetics; Content analysis; Denmark; Diagnosis; Employees; ethics; Female; Gene sequencing; Genetic counseling; Genetic Counseling - psychology; Genetic Testing; Genomes; Germ-Line Mutation; Health care; Health Knowledge, Attitudes, Practice; Hospitals; Humans; Informed consent; Interviews; Laboratories; Male; Medical personnel; Middle Aged; Neoplasms - diagnosis; Neoplasms - genetics; Nurses; Oncologists - psychology; Oncology; Original; Participation; Patients; pediatric oncology; Pediatricians - psychology; Pediatrics; Physicians; practitioner perspectives; Professional ethics; Questionnaires; Research projects; Studies; Surveillance; Surveys and Questionnaires; Whole Genome Sequencing; Denmark; whole genome sequencing; pediatric oncology; ethics; practitioner perspectives; clinical genetics
• DOI: 10.1002/mgg3.1276
• ISSN: 2324-9269

Background With the implementation of a research project providing whole genome sequencing (WGS) to all pediatric cancer patients in Denmark (2016–2019), we sought to investigate healthcare professionals' views on WGS as it was actively being implemented in pediatric oncology. Methods Semistructured interviews were carried out with pediatric oncologists, clinical geneticists, and research coordinating nurses (N = 17), followed by content analysis of transcribed interviews. Interviews were supplemented by ethnographic observations on Danish pediatric oncology wards. Additionally, questionnaires were distributed to healthcare professionals concerning when they found it appropriate to approach families regarding WGS. The response rate was 74%. Results Healthcare professionals see imbalances in doctor–patient relationship, especially the double role doctors have as clinicians and researchers. Some were concerned that it might not be possible to obtain meaningful informed consent from all families following diagnosis. Still, 94% of respondents found it acceptable to approach families during the first 4 weeks from the child's diagnosis. Views on the utility of WGS, treatment adaptation, and surveillance differed among interviewees. Conclusion Overall, healthcare professionals see dilemmas arising from WGS in the pediatric oncology clinic, and some advocate for further educational sessions with families and healthcare professionals. Despite concerns, healthcare professionals overwhelmingly supported early approach of families regarding WGS. Interviewees disagree on the benefits of surveillance based on genetic findings. Healthcare professionals see dilemmas arising from whole genome sequencing (WGS) in the pediatric oncology clinic, and some advocate for further educational sessions with families and healthcare professionals. Despite concerns, healthcare professionals overwhelmingly supported early approach of families regarding WGS. Interviewees disagree on the benefits of surveillance based on genetic findings.