Under-represented community genomics; East London takes centre stage

The genetic data and health records of 100,000 people of Pakistani and Bangladeshi heritage residing in East London are to be analysed in one of the world’s largest community-based genetics studies. The overarching ambition of the 'East London Genes and Health' project is to find ways of improving the health of these communities by better understanding genetic variation in a population that has largely been underrepresented in genetic studies to date. 

The East of London has undergone significant redevelopment and regeneration in recent years fuelled by the 2012 Olympics. Yet certain East London regions still lag behind the rest of London in terms of health and life expectancy, in particular the boroughs of Tower Hamlets and Newham. Poor health is particularly prevalent among the Pakistani and Bangladeshi populations in these areas, and more widely South Asian people have some of the highest rates of heart disease, diabetes, and poor health in the UK. The East London Genes and Health study is recruiting volunteers specifically from these communities who will be asked to donate a saliva sample and share their medical records. Some volunteers will then be invited to participate in further health research studies based on the information provided. 

Research aims of the East London Genes Health study 

Two notable initial research aims of this study are:

To understand what is ‘normal’ genetic variation from person to person in the adult Bangladeshi and Pakistani communities, as this information is crucial when determining which genetic variants are potentially disease causing. 

As described in our Clinical Genome Analysis resources, each human genome differs from another by about 3 million variants. In patients with a rare genetic disease at least one of these variants could be the disease causing factor. Identifying likely pathogenic variants from the 3 million, requires knowledge on what is ‘normal’ variation in a population and this is done by comparing genetic variation in patient’s genome to the wider population to exclude variants that are common in the population and therefore unlikely to explain a rare disease. However, ‘normal’ genetic diversity differs across ethnic groups. Therefore improved data on what constitute normal and common variation in different ethnic groups will facilitate more accurate data analysis, personalised treatment, and better serve an ethnically diverse UK population. 

To study variation in genes in healthy adults whose parents are related, to better understand the functional and health relevance of genes, particularly the significance of genes that have lost their function due to a mutation, so called ‘knock-out’ genes. 

Carrying two copies of the same ‘knock-out gene’ (one from each parent), tends to be rare for the general population but more frequent in communities where cousins and other close relative may marry and have children, as is more common in Bangladeshi and Pakistani communities. Although generally thought of as harmful, there are cases where the effect of knock-out genes could be to confer resilience to disease. So studying this population will help with the discovery of such ‘beneficial’ genes.  

The other key research aims are:

• To study genes in people with very high and very low cholesterol levels, to better understand why heart disease and stroke occur, conditions which are more prevalent in South Asian communities.
• To study genes of people with diabetes, aiming to identify rarer types of diabetes for which specific treatments might be used
• To study if there is a genetic basis to differences in drug response in people of certain ethnicities

Who’s involved and where next

The project is being led by Queen Mary University of London (QMUL) and supported by £4m in funding from the Wellcome Trust and the MRC. The project will work in two stages. The first stage to take place over the next four years will focus on recruiting 100,000 participants.  Recruitment has initially started with the enrolment of 46 individuals in local leadership roles and the QMUL in partnership with Barts Health NHS Trust and local charity Social Action for Health will now begin recruiting more participants aged 16 and over from East London. The second stage, expected to run until 2034, will be centred on the utilisation of data gathered from volunteers to support the research objectives and various research initiatives. 

The work has great potential to improve the representation of groups underrepresented in medical research studies, as well improving ethnic variability in genomic and other research datasets, this is if the project’s leaders succeed in engaging the relevant communities and establishing participation. As East London landscape continues to transform over the coming years, it will be interesting to see if regeneration in East London health also follows suit.