Priorities and Preferences for Whole Genome Sequencing
Research type
Research Study
Full title
A study to define patient priorities and preferences when consenting to whole genome sequencing to ensure informed choice
IRAS ID
181416
Contact name
L.S. Chitty
Sponsor organisation
Great Ormond Street Hospital for Children NHS Foundation Trust and UCL Institute of Child Health
Duration of Study in the UK
2 years, 11 months, 31 days
Research summary
Why: Whole genome sequencing (WGS), in which an individual’s DNA is sequenced to determine the genetic cause of disease, is set to transform the way genetic testing is offered in the NHS. It has already been shown to improve diagnostic rates by around 30% in the case of rare diseases and is being increasingly used in other areas for diagnosis, management and family planning for genetic conditions. WGS is therefore likely to profoundly impact patients, families and health professionals. Whilst some research has been conducted around the consent process there is very little information on whether patients are in fact making an informed decision to accept (or decline) WGS, and if not, how this can be improved. The primary aim of this study is to address this gap by assessing whether patients (or parents) are making informed decisions around WGS. This will be done through developing a measure of informed choice for WGS. Secondary aims are to explore the views experience of patients consenting to WGS and to assess the quality of patient information materials. This work will be conducted alongside the 100,000 Genomes Project, which has been set up by the department of Health to sequence 100,000 Genomes for NHS patients by 2017. This research will directly benefit patients and inform clinical practice by developing recommendations for how WGS should be offered in the NHS as well as the development of a consent support pack for professionals.
What: The focus will be on patients affected by cancer and rare diseases which are the areas being covered in the 100,000 Genomes Project. In the case of rare diseases which often affect children at birth, we will assess informed consent and the views/experiences of parents who are consenting on behalf of their child (and may also be undergoing WGS to help identify the gene variant causing the proband’s condition). In addition to assessing informed consent in adults (16+), a secondary aim of this study is to develop a measure to assess informed assent in young adults (11-15) who may be consulted about WGS.
Who and where: Participants will be recruited across three (out of 11) ‘Genomic Medicine Centres’ (GMCs) based in London and SE England which have been selected to deliver the 100,000 Genomes Project (UCL Partners, Imperial College Health Partners and South London). This group of GMCs include centres of excellence for adult and childhood rare diseases (Great Ormond Street Hospital, the Institute of Neurology, Moorfields Eye Hospital, The Heart Hospital) and cancer (The Royal Marsden, Barts Cancer Institute, St Mark’s). These GMCs also cover very varied ethnic and socially diverse populations. Recruitment from across these sites will thus ensure participants with a range of diseases and cancers, and from very different social and ethnic communities.
How: This study will include questionnaires and interviews (at the time of consent and 6-12 months later) and audio-recordings. Questionnaires will measure informed consent, anxiety, decisional uncertainty and decisional regret. Interviews will explore attitudes and motivations for accepting WGS, knowledge and understanding around WGS, experiences of the consent process, interpretation of results and perceived value of WGS. Interviews will also be conducted with health professionals to explore their experience of discussing WGS, consenting patients and delivering results. Audio-recordings of the consent discussion and feedback of results will provide first-hand evidence of what questions arise and how WGS is discussed. The duration of the study is three years.
REC name
West Midlands - Black Country Research Ethics Committee
REC reference
15/WM/0258
Date of REC Opinion
14 Aug 2015
REC opinion
Further Information Favourable Opinion