How can we work towards equity in rare conditions?
By Natalie Banner on
As Chief Ethics and Engagement Officer at Genomics England, my role is to ensure that the work we do - whether supporting NHS genomics services, delivering ambitious research programmes, or enabling advances in genomic science with our research communities - upholds high standards of ethics, integrity and trustworthiness, for our participants and society.
We work with complex, sensitive data and technologies that are advancing all the time. It is vital that we are able to show how we look after that information securely and use it responsibly, to drive new benefits from genomic medicine.
Inequity in rare conditions
From our beginnings with the 100,000 Genomes Project, rare conditions have been central to our mission. Genomics offers powerful tools to illuminate conditions that are often poorly understood, and while each rare condition affects relatively few people, collectively they touch one in 17 of us.
People living with rare conditions may be looking for very different things from genomics, for themselves and their families.
For some, the priority is diagnosis, for others, it may be potential treatment pathways, support for managing symptoms, or connecting with others who share similar experiences. This complexity and diversity makes it vital that equity is embedded throughout genomics, from the foundational science to the lived experience of participants and their families.
Equity in this context means recognising that different people will have different needs, and committing to providing what is needed for everyone to benefit from healthcare and science innovations.
When thinking about inequities in rare conditions, 3 key areas include: accessible information, disparities in data, and access to innovation. We at Genomics England and others in the community are actively working to address them.
Communication is key
Providing clear, accessible information is one of the biggest challenges in genomics.
Sequencing is complex and requires careful consideration, so everyone offered a genomic test needs high quality information that genuinely supports informed decision-making.
Our current research programme, The Generation Study, is exploring the feasibility of using whole genome sequencing at birth to test for more than 200 early onset, treatable, rare conditions.
The study team is deeply focused on equitable access, ensuring that all eligible families have the information, resources and support they need to make an informed and voluntary choice about participation. This includes everything from translated and accessible materials to engagement with trusted community members or religious leaders.
Importantly, an equitable approach means ensuring that genomic testing is voluntary, so that people are free to make an informed decision without any detriment to their care. And, for those families who do receive a positive finding for one of the conditions tested for, there is an established clinical pathway available within the NHS, so there will be fair and free access to any treatment needed.
Disparities in data
Issues of equity also affect how we understand genomic data and its limits. The majority of insights we have, for example about genetic variants that might cause conditions, come from analyses on data from individuals of European ancestry.
This is despite the enormous genetic diversity within global majority populations, and we are likely to be missing a great deal of knowledge about rare conditions that may be more prevalent in different communities. This disparity in data can directly result in poorer diagnostic accuracy - as previously explored in our Diverse Data initiative.
We worked in partnership with the Improving Black Health Outcomes programme from NIHR Bioresource, to engage with and recruit individuals with Sickle Cell. This rare condition is particularly prevalent in individuals of West African, Afro-Caribbean and Mediterranean descent. We are now in the process of sequencing the data from those participants, and are hopeful that this will generate a rich, new resource for sickle cell research, as well as helping to address the data disparities that lead to inequities in care.
Accessing innovations
Even where the science can point to the possibility of new care or treatments, often funding and regulation haven’t kept pace. 95% of rare conditions currently don’t have an approved treatment.
Traditional funding and approval models for medicines usually require significant data on efficacy and cost, which is often impossible to generate for conditions with very small numbers of patients. Initiatives such as the Rare Therapies Launch Pad are seeking to redress this by driving novel approaches to funding, evidence and regulation for ultra-rare condition therapies. Success here would mean that for some conditions at least, their rarity shouldn’t be a barrier to developing and approving effective treatments.
We believe the benefits of genomic medicine should be able to reach everyone – and this requires appreciating that everyone has different needs to start with.
Even with the very real barriers that people with rare genetic conditions continue to face, the growing focus on equity across healthcare and research shows us that rarity should not mean inequity.
