Parental experiences of ultrarapid genomic testing for their critically unwell infants and children.
Gemma R BrettMelissa MartynFiona LynchMichelle G de SilvaSamantha AyresLyndon GallacherKirsten BoggsAnne BaxendaleSarah SchenscherSarah King-SmithLindsay FowlesAmanda SpringerSebastian LunkeAnand VasudevanEmma KrzesinskiJason PinnerSarah A SandaraduraChristopher BarnettChirag PatelMeredith WilsonZornitza StarkPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2020)
This study provides valuable insight into parental experiences of ultrarapid genomic testing in critically unwell children, including decision regret, empowerment, and post-test reproductive planning, to inform design and delivery of rapid diagnosis programs. The findings suggest considerations for pre- and post-test counseling that may influence parental experiences during the testing process and beyond, such as the importance of realistically conveying the likelihood for clinical and/or personal utility.