Our reports and impact

Genetic Alliance UK works in collaboration with and on behalf of its members across the UK to support high level change to improve the lives of people living with rare, genetic and undiagnosed conditions.

2024

Stats Behind the Stories

Statistics are simple and memorable. For Rare Disease Day 2024, our campaign focused on raising awareness of statistics among the public and healthcare professionals, and sharing some of the stories behind the statistics.

However, for our Rare Disease Day policy report we turned this approach on its head and explored the statistics behind the stories. As Rebecca Middleton, CEO and Founder of Hereditary Brain Aneurysm Support says: ‘It’s often said in the rare disease world that if you can’t be counted, then you don’t count. And of course, counting data is counting people. Each data point has a person and a powerful story behind it.’

Stats behind the stories

View report

2023

Coordinating Care: Learning from the experience of people living with rare conditions

For Rare Disease Day 2023 we launched our report highlighting a series of examples where individuals were experiencing good care coordination from the perspectives of those living with rare conditions and the healthcare professionals providing the services. The report also has examples of how not having effective coordination of care can negatively impact a person’s quality of care.

The Coordinating Care report was informed by the CoOrdinated Care of Rare Diseases (CONCORD) research study, which is summarised in an animation and illustration (2023)

Managed Access Agreements: Shared Learning Roundtable

We brought together a group of our members who have varying levels of experience relating to managed access agreements (MAA) to share learnings from one another. Through discussions three key themes arose that led to a series of recommendations for NICE and NHS England to improve the experiences of patient involvement in MAAs.

Advanced Therapeutic Medicinal Products (ATMP) Equity of Access

Through the work we do with ATMP Engage, a collaborative group working on improving patient and public involvement and engagement in the development of ATMPs, we carried out research and brought together a roundtable of experts to discuss challenges and potential solutions to ensure access to these unique therapies is equitable.

Cell and Gene Therapy Magazine

An educational magazine that explains what cell and gene therapies are and why some rare or genetic conditions may be better suited to these therapies compared to others. It also addresses some of the common questions we are asked by the rare disease community.

2022

Good Diagnosis: Improving the experiences of diagnosis for people with rare conditions

For Rare Disease Day 2022, we launched this report which makes a series of recommendations as to what a ‘good diagnosis’ looks like for people affected by rare conditions. Everyone will have their own preference but there are underpinning themes that can be used to improve the experience.

Why medicines matter (Scotland)

A collection of articles from individuals and organisations with an interest in access to medicines for rare conditions in Scotland expressing a wide range of experiences, opinions and initiatives.

PEG Report: Recommendations for the Rare Disease Action Plans

Through our Patient Empowerment Group (PEG) we compared the UK Rare Disease Framework Action Plans from across the nations, highlighting gaps and learnings that could be had. This report makes recommendations for the devolved nations on how they might be able to align their action plans going forward to ensure care for people with rare conditions is equal across the UK.

2021

PEG: Recommendations for the UK Rare Diseases Framework

This paper was produced by the Rare Disease UK Patient Empowerment Group to review the UK Rare Diseases Framework and provide recommendations on the rare disease action plans ahead of publication.

2020

Rare Experience: The lived experiences of people affected by genetic, rare and undiagnosed conditions:

Every 5 years we carry out a nationwide survey to collect data about the experiences of our community. These views help us to understand key issues and what priorities the community have for improving their day to day lives.

Rare Alert: Alert cards for rare disease patients

For Rare Disease Day 2020 we launched this report reminding NHS England of its commitment in 2018 to implement alert cards for people affected by rare conditions. It also emphasises the value of alert cards for our community especially in relation to supporting them to receive appropriate care in emergency situations.

The Rare Reality of Covid-19

In this report, we present findings from the EURORDIS Rare Barometer Covid-19 Experience Survey and our members about the impact of Covid-19 on people affected by rare conditions.

2019

Illuminating the Rare Reality

Published on Rare Disease Day, this report calls for a refresh of the UK Strategy for Rare Diseases, focussing on five key areas: diagnosis, rare disease care and treatment, information and support, rare disease research and keeping the strategy up to date.

Action for Access

This report details the challenges with the decision making processes that determine whether rare disease medicines should be made available to patients in the UK and makes recommendations to improve them.

Fixing the present, building for the future: Newborn screening for rare conditions

This report describes the current landscape for newborn bloodspot screening, and delivers the views of people living with rare conditions on how we can fix our current system and build for the future.

2018

Living with a Rare Condition: The Effect on Mental Health

Sets out the findings of a study carried out to help develop a fuller, clearer picture of the relationship between rare disease and mental health. This report makes recommendations on how the mental health of those affected by rare conditions can be better supported.

Older Reports

The hidden costs of rare diseases: A feasibility study (2016)

The Rare Reality - an insight into the patient and family experience of rare disease (2016)

Annual Report and Accounts

View our Annual Reports

Take a look at our 2022 / 2023 Impact Report