Consent in (dis)array? Genome-wide testing in the paediatric setting: bioethical and clinical perspectives on informed consent in practice
Dr Katherine Burke
Until recently, genetic investigations involved microscopic examination of chromosomes or a particular section of DNA sequence. New methods look across all genes and chromosomes simultaneously which means that abnormalities may be spotted that are unrelated to the reason the test is being carried out.. Doctors might find things that are unusual, but not know what they mean, which may include potential problems for patients and their relatives.
I will examine how doctors and families of children undergoing tests talk about the possibility of these unexpected outcomes. I will look at conversations between doctors and families when gaining permission to test and when sharing the results. By talking to doctors and parents separately, I can explore what they understand about the results of these tests and how this information should be shared.
The goal of the work is to define how health professionals and parents understand the results of investigations which look across the whole genome, producing guidance, a consent form and a patient information leaflet to support this process.