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20 years ago ‘rare’ invariably meant ‘incurable’

rare disease incurable
rare disease incurable

How far have we come in the field of rare and genetic diseases since the 1990s?

Back in 1990, rare and genetic diseases were on the margins of healthcare systems in most developed health economies. Clinical genetics was a very small, rather obscure specialty of interest to a few academic clinicians fascinated by the intellectual challenge that genetics offered. For most clinicians, and indeed service planners too, ‘rare’ was synonymous with ‘incurable’; and, not many people affected meant it was not very important in the overall delivery of healthcare. For patients and families, medicine had little to offer apart from the palliation of symptoms and the possibility of exercising reproductive choices where a genetic disease was suspected.

1990: ‘Rare’ was synonymous with ‘incurable’

Since then we have travelled a long way – rare and genetic diseases increasingly occupy centre stage in the planning and delivery of future-facing health care. Diseases that were formerly incurable and lethal are now often better managed, and although the absolute numbers of disease modifying therapies for rare conditions remains small, advances in science give real hope of progress to growing numbers of patients and families.

Rare and genetic diseases are now known to be complex, multi-system disorders that require input from a network of different specialists if they are to be managed in ways that deliver the best possible outcomes for those affected. The onus now for the planners and providers of health and social care is to demonstrate that they have the flexibility and the will to manage this complex ecosystem in the best interests of the patients and families who rely on it.

1998: Orphan Medicinal Product Regulations

It has been my privilege to be the Director of Genetic Alliance UK since 1993, stepping back from this role in 2017. To help give a voice to those with rare and genetic disorders, so that those with the power to make positive changes were able to hear, understand and act on the issues patients and families were facing, and in many cases still are, has been a challenge and a joy. An estimated 6,000 children are born every year with a syndrome without a name and the ongoing support for children and their families has been a privilege to be a part of. It would not have been possible to achieve anything without the commitment, support and sheer hard work of a fantastic team of trustees, colleagues. 

2009: Parliament celebrated Rare Disease Day

There have been many milestones that help measure out progress we have made over the years. In 1998 we pushed for the adoption of Orphan Medicinal Product Regulations across the EU – incentivising the development of medicines for rare diseases, while 2009 saw us celebrating Rare Disease Day with parliamentary receptions across the UK – now an important annual event in the political calendar. Rare Disease Day has helped galvanise support amongst the general public and policy makers across the UK.

2013: UK Strategy for Rare Diseases was published

The UK Strategy for Rare Diseases, published in 2013 marked the first time the four UK governments had a specific policy targeted at meeting the needs of our members and families, and we have played a key role in supporting the delivery of this strategy across the UK. Today we see the NHS planning a genomic medicine service that will bring cutting edge science to serve the needs of patients and families.

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