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Jason bw

Data diversity from a health start-up perspective

Jason Mellad, CEO and Co-Founder of Start Codon, talks about the importance of data diversity in eliminating health disparities and why this makes moral and business sense.

The completion of the Human Genome Project in 2003 ushered in a new era of novel drug targets, precision medicine, and earlier disease diagnosis as well as setting the stage for a biotech revolution, fueled by groundbreaking technical advances including next generation sequencing and genome editing. Moreover, new studies into the impact of environmental exposure, epigenetics and 3D chromatin architecture on gene expression and disease risk are revealing new insights from our DNA and RNA. However, historically marginalised communities have largely been excluded from the genomics revolution to the detriment of society.

Both intentional and unconscious biases are universal aspects of human behaviour, often compelling those in positions of power to support initiatives and policies that favour themselves and consequently anyone else from a similar background. The lack of diversity in genomic datasets is a direct consequence of this attitude and is further exacerbated by a general lack of resources in emerging economies.

For example, public databases like The Cancer Genome Atlas (TCGA) and GWAS Atlas are dominated by sequences from individuals of European descent. Such narrow scope limits the utility of these extensive resources for the majority of the global population. Important polymorphisms like HLA-B*15:02 (strongly associated with carbamazepine-induced Stevens–Johnson syndrome (SJS) and related disease toxic epidermal necrolysis (TEN) in certain Southeast Asian ethnicities) and GRK5-L41 (protects against early death in African Americans with heart failure) hold the key to understanding basic human physiology.

They can drastically improve outcomes when incorporated into patient stratification strategies and could potentially lead to the development of new therapies with wide applicability. Given the continued homogeneity and Eurocentricity of most genomic discovery initiatives, it’s easy to assume that researchers are missing out on valuable insights hidden in our DNA.

The start-up community is leading efforts to address these inequities. US and Nigeria-based 54gene identified an opportunity to develop precision medicine diagnostics for Africa. The continent is recognised as home to the most genetically diverse populations but grossly underrepresented in genomic research, with less than 3% of genetic material used in global pharmaceutical research hailing from Africans. Similarly, IndyGeneUS recently launched in Kenya and is developing the world’s largest block-chain encrypted repository of indigenous and diasporic African genomic and clinical datasets. Hong Kong-based Ambio Technology sells direct-to-consumer DNA ancestry and health tests and Argentinian Bitgenia is a bioinformatics company that offers genomics analysis and interpretation for a wide range of healthcare applications. These pioneering organisations have only just begun to tap into the awesome potential of inclusive genomics and their founders are an inspiration for others keen to launch their own disruptive platforms.

What will it take for us to accelerate progress? Population-scale sequencing initiatives such as Genomics England, GenomesAsia 100k, FinnGen, Genome India Project and Three Million African Genomes (3MAG) provide excellent foundations for both academic researchers and aspiring entrepreneurs. GSK and Novartis recently announced Project Africa Genomic Research Approach for Diversity and Optimising Therapeutics (Project Africa GRADIENT) to support high-quality scientific research investigating the link between pharmacogenetic diversity across different regions in Africa.

These programmes and institutions must ensure commercial access to their invaluable datasets is permitted through the appropriate channels, protects privacy and dignity without creating silos, and importantly results in revenue sharing agreements that directly and tangibly benefit the communities and/or individuals who contributed their genomic sequences and samples. For example, Babraham Research Institute spin-out Enhanc3d Genomics’ proprietary platform can identify novel biomarkers and drug targets by linking non-coding single nucleotide polymorphisms to the genes and pathways they regulate, which would enable these initiatives and others to derive full benefit from their whole genome datasets. Democratisation of these resources will supercharge the start-up ecosystem and innovation across the industry.

It also essential that we urgently address the lack of diversity in board rooms and venture capital firms across the biotech industry. Although the business cases for inclusion and diversity is stronger than ever, as evidenced by several quantitative studies, a 2020 report by Diversity VC highlighted that more than more than 60% of US start-up founding teams were all white and BLCK VC estimates that only 3% of US venture capital investors are black.

Heterogeneous teams with members from a wide range of gender, ethnic and cultural backgrounds consistently outperform their counterparts across multiple key performance indicators, according to McKinsey & Company’s ongoing analyses. To realise the full commercial benefits of equality, we must continue to educate and recruit new talent at all levels of our organisations.

Data diversity and eliminating health disparities are moral imperatives and make business sense. The global population is nearing eight billion and every one of us deserves to benefit from the genomics revolution. Entrepreneurs and investors must embrace this inclusive and lucrative future.

First published by Mind the Gap Health.