The National Institute of Health's (NIH) new All of Us study has released nearly 100,000 genome sequences, half of which are from people who identify as black or African American, hispanic or latino, and Asian.
The US study has collected nearly 100,000 anonymous whole-genome sequences from the American population in the hope they can be used to provide a better understanding of the role of genes and variants in disease. The study ultimately aims to collect one million genomes from a cohort that is representative of the US population as a whole.
'Until now, over 90 percent of participants from large genomics studies have been of European descent. The lack of diversity in research has hindered scientific discovery,' said Dr Josh Denny, chief executive officer of the All of Us research programme.
Genome sequences will be anonymously linked to the patients' healthcare records, survey responses and FitBit devices in an attempt to gain insight into the role of genes on health. They will also be linked to the Census Bureau's American Community Survey to allow analysis that takes into account the communities where participants live.
The study has been based around other similar whole-genome sequence collections such as the UK BioBank, which made 200,000 whole genome sequences available to researchers in November 2021 (see BioNews 1122).
However, only US-based researchers (or researchers affiliated with US-Based academic, non-profit or healthcare organisations) will be allowed to use the data set made available by the All of Us study. Those who have been approved have been made to complete online ethics training and will be able to access the data via an online cloud-based platform known as the All of Us Researcher Workbench. Around 1500 researchers at 300 institutions are already signed up, Dr Denny confirmed to Science.
More research centred around underrepresented categories of the population may result in better care and more effective disease prevention strategies for those populations, he explained.
'All of Us participants are leading the way toward more equitable representation in medical research through their involvement. And this is just the beginning. Over time, as we expand our data and add new tools, this dataset will become an indispensable resource for health research.' added Dr Denny.
The milestone was reached as the England-based Genes and Health study recruited its 50,000th volunteer. The study aims to investigate the role of genes on health of people of Pakistani and Bangladeshi ancestry.