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Rare Diseases Q1 2021

Equal access to care and life chances are not a ‘nice to have’

Amerah © Ceridwen Hughes : Same but different

Nick Meade

Director of Policy, Genetic Alliance UK

The idea of equity has many dimensions for people living with rare conditions. We have long recognised the challenges facing ethnic minorities to access an equal to NHS care.


A 2013 study saw that members of minority ethnic groups were less likely to access cancer genetic services for a wide range of potential reasons. Reasons included: low community awareness and understanding of familial cancer risk, variations in beliefs, and stigma about cancer or inherited risk of cancer.

Throughout the world of rare conditions, information is crucial and many of our members see information delivery as a key expectation. We are supporters of Breaking Down Barriers (BDB) which came out of Alström Syndrome UK’s work to engage with people of South Asian origin affected by the condition. BDB now works to help patient organisations to develop supportive and inclusive services for people affected by rare and genetic conditions.

Although participation in a clinical trial is always free, the ability to drop everything, move city, country or continent, and take six months off work is a privilege which can be a barrier.

Narrow gateways to hope

The cutting edge is where the best care and treatments for rare conditions can lie. Access to clinical trials is, for some, the only way to find a treatment. Although participation in a clinical trial is always free, the ability to drop everything, move city, country or continent, and take six months off work is a privilege which can be a barrier to accessing experimental treatments for some families.

There is inequality between rare conditions too. Those conditions for which a medicine arrived in an early wave of innovation may be fortunate enough to have a choice of medicine, whereas others wait years for medicines to be NHS funded.

Process must not bury detail

We understand that we need registries to better study a condition and to facilitate clinical trials, should they be possible. But there cannot possibly be a registry for every rare condition. We do, however, hope that the English National Congenital Anomaly and Rare Disease Registration Service, and parallel bodies in the other UK nations, can build a framework to help level this playing field.

In the UK we are at the beginning of Genome UK and the UK Framework for Rare Diseases – the two new overlapping national policies for genomic medicine and rare conditions. Our community expects progress to be made over the terms of these policies but, as this progress is made, we need to be careful to observe and react to who is left behind.

A four priority framework is bound to leave some groups’ priorities under-addressed. A genomic approach will not work for all. Where we make progress on treatments for single gene disorders, we leave more complex genetic conditions un-addressed.

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