New vision from the NIH signals a new era for human genomics

The US National Human Genome Research Institute (NHGRI), part of the National Institutes of Health (NIH), has published a strategic vision describing its research priorities and opportunities in human genomics for the coming decade. 

The 'Strategic vision for improving human health at The Forefront of Genomics', launched in 2018, and came in anticipation of the increasing integration of human genomics in basic and translational research, and is the third of its kind since the completion of the Human Genome Project in 2003. 

'We crafted our new strategic vision at an important inflection point in human genomics,' said Dr Eric Green, NHGRI director. 'Genomics is now prevalent across the research landscape, and so NHGRI focused its strategic attention on the most cutting-edge aspects of the field. Our criteria for inclusion was that future advances must be widely beneficial and have the greatest impact on understanding genome biology and facilitating the implementation of genomic medicine.'

The vision, published in Nature, identifies four focus areas. The first sets out principles and values pertaining to data control, privacy and consent intended to address the systematic injustices and biases in human genomics. These include issues relating to genetic discrimination, genome editing, consent to participating in genomics research and genomic data security, and the representation of people from across cultures and populations in genomic studies and the genomics workforce.

The second area covers sustaining and improving a robust foundation for genomics research, with emphasis on the generating, disseminating and educating people on genomic data. The third, barriers impeding the progress of genomics research, which cover priorities in laboratory and computational methods, biological insights, and the implementation of the science. Fourthly, the vision proposes research projects that warrant priority attention, ranging from technical challenges such as determining the genetic architecture of most human diseases and traits, to the more conceptual aim of understanding how the use of genomics can influence concepts pf health, responsibility, identity, family, and community.

The vision compiled the input of thousands of participants gathered through over 50 events designed to reach people from varied backgrounds, career stages and disciplines; these included dedicated workshops, town halls, sessions at professional meetings and social media discussions. 

'Our strategic engagement process for the past two-plus years was extremely effective at distilling the universe of opportunities in human genomics into a forward-looking blueprint of elements that reflect the forefront of genomics,' Dr Green said.

The strategic vision ends on ten predictions for human genomics by 2030, intended to incite discussion, including that generating and analysing a complete human genome sequence will be routine for any research laboratory, that an individual's complete genome sequence will be securely and readily accessible on their smartphone, and that individuals from ancestrally diverse backgrounds will benefit equitably from advances in human genomics.