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Diversifying genomic data: ensuring equity in the age of precision medicine

From pharmacogenomics to disease prevention, genomics has the potential to transform how we understand health and deliver care. Unlocking this potential will require concerted efforts to improve the diversity of underlying genomic data.

By Dr Chris Rice

The field of genomics holds immense potential to revolutionise healthcare, by providing clinicians with deeper insights into the underlying causes of genetic diseases. This holds the possibility of allowing the development of more personalised treatment plans, and the prediction of individual risks for a variety of serious health conditions.

One of the most promising applications of genomics is in pharmacogenomics and precision medicine; the ability to tailor treatment to the genetic makeup of each patient, leading to more effective and targeted therapies. In addition, genomics can play a crucial role in diagnosing diseases earlier and more accurately. By analysing patient DNA samples, doctors can detect genetic predispositions to diseases, allowing for early intervention and prevention strategies. This can significantly improve patient outcomes and reduce healthcare costs.

To realise the potential of clinical genomics, it is crucial that the genomic datasets underpinning the technological innovations are diverse, representing the full range of human genetic variation. However, according to Genomics England, more than 90 per cent of sequenced genomes come from people of European descent, impacting our ability to understand the genetic basis of certain diseases. For underserved populations, the absence of their data renders them effectively invisible to genetic analysis, along with any diseases that disproportionately affect ethic minority groups, including Sickle Cell anaemia, and Thalassemia.

This can also be seen in genomics research publications, which show that very few of the participants in genomics research are from non-white ethnic backgrounds. While the reasons for this disparity are myriad, a lack of trust among these communities in scientific research is at least partially responsible. Cases such as the long-running U.S. Public Health Service Tuskegee Untreated Syphilis Study and the 1969 MRC-funded radioactive iron-laced chapati scandal in the UK have raised concerns from minority ethnic groups around informed consent by trial participants. Revelations from scandals such as these have led to significant improvement in research trial ethics and regulation however issues of trust of research within these communities remain.

The underrepresentation of ethnic minorities in genomics research not only results in fewer studies of conditions that affect these communities, but correlates with a lower familiarity of genetic testing by ethnic minorities compared with ethnically white groups. As a consequence, a higher proportion of white individuals receive a diagnosis for an inherited genetic condition compared with other ethnic groups – exacerbating existing health inequalities. This issue has been magnified with the emergence of artificial intelligence (AI) algorithms and their growing use to analyse existing genomic data to design novel therapeutics for personalised medicine. When AI is used to analyse biased data sets, the resulting outcomes are likely to be also unrepresentative, meaning that truly ‘personalised’ medicines are not available for all.

Over the past three years, the Public Policy Projects Global Genomics series has engaged with our genomics network, comprising genomics researchers, programme leaders, and industry representatives worldwide, including in low-to-middle-income countries, to explore how we can diversify existing genomic data sets and encourage inclusion of more communities in genomics research. Crucially, these conversations have centred on the understanding that inclusion involves not only the analysis of genomic information from traditionally underserved populations, but also sharing of capacity and resources for these communities to lead their own genomics research and to benefit from the positive potential health benefits of genomics research.

In 2024, Public Policy Projects will be launching the next iteration of its Global Genomics Programme, which will study the potential of pharmacogenomics and consider how we can ensure equity of access to the myriad benefits of this technology. The Programme will also explore how we can ensure that the road to personalised medicine is built on a solid foundation of diverse and globally representative genomic data. We will be convening a series of expert-led roundtables to tackle the challenges of equitable genomics and engaging with community leaders to understand a variety of perspectives.

If you are interested in being a part of this unique network, please contact PPP’s Global Genomics Partnerships Lead, Dr. Chris Rice for more information at chris.rice@publicpolicyprojects.com.

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