Genes & Health Longitudinal Population Study

Lead Research Organisation: Queen Mary University of London
Department Name: Wolfson Institute of Population Health


Genes & Health is a large study involving British Bangladeshi and Pakistani people in health research. People from these backgrounds experience higher rates of ill health compared to White Europeans (e.g. type 2 diabetes and cardiovascular disease are four times and twice as common, respectively). The health inequalities faced by British south Asians are further exacerbated by their underrepresentation in health and genomic research. For example, only ~2% of participants in global genome-wide association studies (one of the commonest types of genetic study) are south Asian despite making up ~25% of the world's population. Genes & Health is succeeding in redressing some of this imbalance and is proving a valuable contributor to the global research stage.

Since it started in 2015, Genes & Health has managed to recruit 50,455 volunteers, through extensive and lasting engagement with the communities it represents. Genes & Health exists as a scientific resource available for a global research community to use, thereby ensure that the greatest benefits to health are achieved from the contributions of these volunteers. Through the research that Genes & Health has already supported, it has already had several major impacts, including:

i. Discovering how complete gene knockouts contribute to health and disease
ii. Supporting development of a new drug (Lumasiran) for a rare genetic disease causing severe ill-health in children
iii. A significant contribution to a consortium uncovering how our genes make us more susceptible to developing, or getting unwell from, COVID-19
iv. Improving the prediction of who is at risk of developing type 2 diabetes using genetic data
v. Uncovering a new biological pathway involved in childhood growth and puberty

Despite these early successes, Genes & Health is now at a critical phase, with its sustainability and potential for growth uncertain. With funding from the MRC Longitudinal Population Study scheme, Genes & Health will be able to sustain itself as a long-term study of health and disease in this underrepresented population of British south Asians, working together with other valuable research cohort studies for maximal benefit. This funding will also allow Genes & Health to grow and better address areas of health need which remain unmet, including mental health and pregnancy health.

Our proposal focuses on the following areas:

1. Supporting the overall sustainability of Genes & Health through support of its core research team, beyond the duration of its current infrastructure funding, and to generate rich longitudinal data.
2. Delivering growth of Genes & Health 'recall' studies, where its existing volunteers are invited to participate in additional research, and where significant added value lies
3. Expanding data collection in mental health and pregnancy, to address areas of unmet health need
4. Growing the Genes & Health data resource to ensure it can be aligned to other cohort research studies to ensure analyses that are greater than the sum of their parts.

To do this, we seek additional funding, which will support the input of some additional senior academic experts, and an expanded team of individuals to deliver our ambition.

Technical Summary

Genes & Health is a cohort study British Bangladeshis and Pakistanis, who experience some of the highest rates of ill health in the UK, and are significantly underrepresented in research studies.

Since 2015, Genes & Health has recruited 50,455 volunteers and has an extensive data resource. The resource comprises a longitudinal health data resource of ~700,000 person/years of follow up, Illumina GSA chip data on 45,000 of its volunteers, and exome sequencing of 50,000 volunteers (due for completion in 2022).

Genes & Health has already had major research successes, with outputs related to rare gene variant discovery, drug development, genome wide association studies and polygenic risk scores, and >15 REF 4* publications including Nature, Science, New England Journal of Medicine. A new Life Sciences Partnership is funding its exome sequencing, and the cohort contributes to multiple international research consortia, and it has attracted £40 million in research funding.

This proposal would provide critical support to the sustainability and growth of Genes & Health, particularly focusing on areas of unmet health need. We plan to expand volunteer recall studies, a near-unique feature of Genes & Health. We will develop a high-throughput online recall platform and will use it to perform cohort-wide mental health and cognitive phenotyping of 25,000 volunteers, before making it available for wider use. We will expand recruitment to build a pregnancy cohort of 20,000 pregnancies, of which 5,000 will be mother-child dyads and 2,000 complete trios. Finally, we will ensure the readiness of Genes & Health for cross-cohort analyses by harmonising ongoing data collection with other bioresources (e.g. UK Biobank).

Our proposal has been carefully tailored to ensure non-duplication of funding to support maximum gain, and brings in world-leading subject experts. We have followed MRC guidance to request only infrastructure support, and do not include any research questions.


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