Genetics, genomics and precision medicine: Innovations in childhood cancer care through the eyes of families and oncology professionals

The successful implementation of precision medicine in childhood cancer care, including genomic testing for cancer predisposition syndromes, requires close examination of the experiences of key stakeholders. Taking a multi-perspective, mixed-methods approach, I conducted an in-depth investigation of the experiences of young patients, parents, and oncology professionals in the Australian healthcare context. After presenting a summary of the relevant literature in Chapter 1, I then conducted a systematic review (n=20 studies) of children and young adults’ understanding of, and attitudes towards, clinical genetic testing for hereditary diseases, and highlighted the unique information and support needs of young patients affected by/at risk of genetic conditions (Chapter 2). In Chapter 3, I examined families’ (n=26 parents, n=9 young adults) experiences of cancer-related genetic testing in childhood and identified their unique psychosocial challenges and information needs. In Chapter 4, I documented the challenges experienced by oncology professionals (n=39 clinicians, n=15 scientists) delivering precision medicine for poor prognosis childhood cancer. Finally, in Chapter 5, I examined parents’ (n=177) preferences, expectations and recall regarding clinically relevant germline findings in the context of a precision medicine trial for poor prognosis childhood cancer. The findings of this program of work affirm the need for specialised paediatric precision medicine informational resources and supportive practices, to educate and empower families, including young patients, so that they can experience the benefits of advancing technologies without risk of deleterious psychosocial consequences. The thesis also addresses the potential for the development and evaluation of professional development initiatives to support paediatric oncology professionals in navigating the unique challenges of genomic precision medicine.

Grantor dc:publisher

UNSW, Sydney

Year dc:date

2021

Author dc:creator

• McGill, Brittany ; https://orcid.org/0000-0002-2134-2988

• childhood cancer
• precision medicine
• genetics
• psychosocial
• family
• healthcare professional
• healthcare system
• anzsrc-for: 321103 Cancer genetics
• anzsrc-for: 3213 Paediatrics
• anzsrc-for: 5203 Clinical and health psychology
• anzsrc-for: 321104 Cancer therapy (excl. chemotherapy and radiation therapy)
• anzsrc-for: 420303 Family care

Statement dc:rights

• open access
• CC BY 4.0
• free_to_read

Licence

• https://purl.org/coar/access_right/c_abf2
• https://creativecommons.org/licenses/by/4.0/

Identifier

https://doi.org/10.26190/unsworks/23952

OAI identifier oai:identifier

oai:unsworks.library.unsw.edu.au:1959.4/100245