I am a postgraduate student, reading for a DPhil on a Rhodes Scholarship and RDM Scholarship. I am working under the supervision of Prof Hugh Watkins and Dr Elizabeth Ormondroyd (Cardiovascular Medicine) and Prof Michael Parker (Ethox Centre, Nuffield Department of Population Health).
My research interests are in inherited disease and the realisation of genomic medicine in clinical practice. I am particularly interested in the rapid translation of whole-genome sequencing into the clinic, and the need to explore the impact and implications that such technologies have for patient care and society at-large. More specifically, my doctoral work explores the issue of cardiac secondary findings in whole-genome sequencing: findings that have potential health benefits, but are unrelated to the indication for which the testing was ordered. These findings, which can alert physicians to potentially lethal conditions for which treatment is available, present novel clinical and ethical scenarios. Using a mix of qualitative data (including semi-structured interviews) as well as quantitative data (including clinical and computational work) I am exploring issues around secondary findings, ranging from the clinical utility of secondary findings to how they affect individual patients.
Stakeholder views on secondary findings in whole-genome and whole-exome sequencing: a systematic review of quantitative and qualitative studies.
Mackley MP. et al, (2017), Genet Med, 19, 283 - 293
Expect the unexpected: screening secondary findings in clinical genomics research.
Mackley MP and Capps B, (2017), Br Med Bull, 122(1), 109-122
Insights from early experience of a Rare Disease Genomic Medicine Multidisciplinary Team: a qualitative study.
Ormondroyd E. et al, (2017), Eur J Hum Genet, 25(6), 680-686
Do you really want to know what's lurking in your genome?
The Conversation UK
Considering stakeholders in policy around secondary findings in genomics.
Bill of Health, Petrie-Flom Center, Harvard Law School