Companion Study
Research type
Research Study
Full title
Companion Study - Exploring access to Genomic Research
IRAS ID
198280
Contact name
Bella Starling
Contact email
Sponsor organisation
Central Manchester University Hospitals NHS Foundation Trust
Duration of Study in the UK
4 years, 10 months, 31 days
Research summary
Research Summary
Genomic testing will become an important tool in healthcare for the diagnosis of rare diseases and delivery of personalised medicine. Using new technology, genomic sequencing can now provide information about the whole genome to help scientists and clinicians understand the cause of conditions and develop ways to find new treatments. This technology is only available through research projects currently, but the NHS, through Genomics England 100,000 genomes project, is working to develop the infrastructure to deliver genomic testing to patients in the UK.
The Manchester Centre for Genomic Medicine (MCGM) is recruiting to the 100,000 genome project as well as other genomic sequencing projects across rare diseases groups. We strive to ensure that people across our region have equal access to this new technology through these projects. It is well known that patients from different minority backgrounds are less likely to access genetic services and we are keen to understand the possible barriers for people taking part in this research that could have key clinical benefits for them in the future. Therefore, we plan to carry out this study to better understand whether a representative sample of the Greater Manchester population are accessing this research and to hear from the patients about their perceived barriers to taking part.
Participants will be approached either prospectively in clinic appointments or Retrospectively by postal invitation.
A subset of recruited individuals will be approached to take part in a further interview to find out more about their experiences of being approached for research studies and to find out the reasons why they wished/ did not wish to participate.
Summary of Results
COMPANION STUDY: Exploring Access to Genomic Research (IRAS ID 198280)
The Companion study was led by Manchester University NHS Foundation Trust and recruited participants from a range of hospitals in the local area between 2016 - 2021.
The aim of the study was to describe the demographics of those participating in genomic testing studies in order to identify groups that may require additional support to access this testing in the future. Patients and their family members who took part in the 100,000 Genomes Project and other related research were invited to share their experiences of the benefits and challenges of taking part in genomic research by completing a questionnaire.A total of 1352 participants completed the questionnaire. Participants ages ranged from 18 to 95 years old, with a broad spread between the ages of 30 to 70. Patients with a wide range of different rare conditions and cancer took part in the study, reflecting the eligibility criteria of the 100,000 Genomes Project.
Participants travelled a significant distance to attend their appointment with more than a third (37.8%) having travelled more than 20 miles to attend. 10.6 % had travelled more than 50 miles to their appointment, including a small number who had travelled from abroad. The need to attend in person was determined by the requirement for a fresh blood sample for genomics research. Some participants identified that the distance to travel was a barrier to attending, along with parking (including disabled parking) and travel costs. Other barriers to attending appointments included childcare, needing a carer’s support, needing to take time off work/school and physical disability, including mobility issues.
People completing the questionnaire were predominantly of White British origin (89.51% of participants, compared to 74.4% reported in the 2021 census of England and Wales). Other ethnicities were recruited but these were mostly underrepresented in comparison to UK population demographics. The choice to use a questionnaire may have influenced this underrepresentation as participants were required to be able to read and write in English.
Participants were asked about their genetics knowledge. More than half (56.4%) of participants reported that no genetics was covered at school. However, 75.2% of participants reported having a little or good knowledge of genetics prior to taking part in research, possibly acquired during discussions with their doctor about their condition.
We asked participants why they think genomics is important for the future. A small number identified that genomics may be important for their family’s health. The majority of participants also indicated that they thought that genomics would improve treatment and diagnosis in the future. Other potential benefits identified included improving our knowledge of diseases, helping others and prevention of diseases.
The results of this study will enable genomic researchers to consider practical aspects of study design and considerations for improving inclusivity in future projects.
REC name
West Midlands - Edgbaston Research Ethics Committee
REC reference
16/WM/0180
Date of REC Opinion
6 May 2016
REC opinion
Further Information Favourable Opinion