Precision Medicine: Options for Capturing Consent

In the last few decades, our understanding of the human genome has advanced at a great pace. When first sequenced in 2003 as part of the Human Genome Project,[1] the effort cost between ~$500 million and $1 billion worldwide and took more than ten years.[2] Today it is possible to produce a whole-exome sequence generally below ~$1000[3] in around a day. This is an astonishing achievement, but great challenges lay ahead.

A human genome is approximately composed of 3 billion base pairs, ~99.5 percent of which is common across all humans. We know that many rare diseases have genetic components,[4] and we suspect that many common diseases have at least predispositions to be found at a genome level.[5] Cancer has also been described as a “disease of the genome”.[6] Behavioural and environmental factors, however, also influence our health in very complex ways. Scientists all over the world are sequencing people as part of various research projects and clinical programmes to understand these interactions. Because of the genome’s size and the variety of factors to be investigated, scientists require large amount of data to be able to identify and subsequently test possible candidates for explaining aspects of human health. This is why it is vital that they are able to access data produced by other scientists around the world.

Genomic and health data are private, personal and often sensitive. These characteristics make them understandably subject to strict regulations and scrutiny at legal, ethical and societal levels, which in turn make them difficult to be shared across scientific programmes, researchers, institutions and countries.[7] Of the many different aspects that need to be addressed for such sharing to occur, one is related to consent.[8] Informed consent is a standard practice across worldwide scientific and clinical communities to ensure that participants understand and are giving their permission to be part of research programmes. There are governance principles and guidelines for conducting research and consenting, generally applied at local institutional level. However, there is great variety to what people can be consenting. For example, for international data sharing to occur participants need to be asked if their data can be used by different researchers, for different purposes, in different countries.

Large Precision Medicine Initiatives that leverage work across different sites, such as the “All of Us” research programme (formerly known as PMI),[9] have the great challenge to coordinate and ensure that consent allows for work to occur across different institutions and States seamlessly. This is a difficult task and one that Intel Health and Life Sciences and P3G have explored in this white paper. The paper begins by identifying legal and ethical aspects of consent related to the PMI, continues by providing an overview of options for capturing consent (including electronic consent), it then looks at examples of consent for similar biobanking initiatives across the world, and concludes by giving several recommendations as to next steps.

[1] https://www.genome.gov/11006943/human-genome-project-completion-frequently-asked-questions/
[2] https://www.genome.gov/sequencingcosts/. Note that it is difficult to estimate the costs associated with the creation of first 'reference' human genome sequence.
[3] https://www.genome.gov/sequencingcosts/. Note that this figure refers to the cost of analysing a sample and producing an initial file; it does not include other steps necessary to be able to use the information (e.g. quality control, alignment, variant calling, annotation).
[4] https://www.genomicsengland.co.uk/the-100000-genomes-project/understanding-genomics/rare-disease-genomics/
[5] http://www.who.int/genomics/public/geneticdiseases/en/index3.html
[6] https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3020694/
[7] For a discussion on privacy risk and a suggested “tiered protection” approach see http://www.nature.com/articles/npjgenmed201624
[8] See this link for the Global Alliance for Genomics and Health (GA4GH) policy and guide documents to enable international health and genomic data sharing: https://genomicsandhealth.org/working-groups/regulatory-and-ethics-working-group
[9] https://www.nih.gov/research-training/allofus-research-program