Genetic Alliance UK

The group's work is primarily policy campaigns. It has campaigned for improved regulation and governance of clinical research, including animal research, improved access to new technology such as preimplantation genetic diagnosis, and has responded to Government consultations on the restructuring of the National Health Service between 2010 and 2012 to ensure that the needs of those with genetic conditions are properly addressed.

The group also commissions projects covering issues of common interest to its members; these have included insurance, prenatal diagnosis, patient access and patient information. It also works on gathering evidence of need through research projects and on directly improving information and services to patients.

The work has expanded outside the United Kingdom into the European Union. The group works through EGAN (European Genetic Alliance Network) to promote the interests of those with genetic conditions at European Commission and European Parliament.

1989: The group was founded in 1989 as Genetic Interest Group, after a group of approximately twelve charities proposed an alliance, with the backing of the British Clinical Genetics Society.[2]

1993: Genetic Interest Group became a founding member of the European Alliance of Genetic Support Groups (EAGS) – now known as the Patients’ Network for Health and Medical Research (EGAN).

1995: The Disability Discrimination Act passed. Genetic Interest Group lobbied to amend the Bill to ensure people pre-symptomatic for a genetic disorder would be protected against discrimination.

2003: Genetic Interest Group lobbied the Department of Health for more investment in rare disease research. There was a successful outcome in the White Paper on genetics on 24 June 2003, with £3 million earmarked to fund research into rare diseases.

2008: The Human Fertilisation and Embryology Act 2008 passed. Genetic Alliance UK's lobbying work influenced the law on a number of issues including preimplantation genetic testing, saviour siblings and human-animal hybrid embryos. Rare Disease UK was launched to campaign for a strategic approach to rare diseases in the UK.

2010: Genetic Interest Group became Genetic Alliance UK [3] - the decision was made to change the name and branding of the organisation to better reflect its work.

2011: SWAN UK (syndromes without a name) was relaunched as a project of Genetic Alliance UK, to continue supporting families of children with a syndrome without a name – taking over from Liz Swingwood, the grandmother of a child with an undiagnosed genetic condition.

2013: The UK Strategy for Rare Diseases was launched in November following years of hard work by our Rare Disease UK campaign.

2014: Genetic Alliance UK published its first patient charter, on the NICE Highly Specialised Technology Programme. Five patient charters on access to medicines and on genome sequencing have now been published.

The group now represents over 200 voluntary organisations and has representation on numerous bodies in the UK, Europe and the rest of the world.

Rare Disease UK (RDUK) is a joint initiative of Genetic Alliance UK with other interested bodies. It focuses on the unmet healthcare needs of families with inadequate access to integrated care and support from the National Health Service.[4] It aims to ensure the efficient use of scarce expertise, and promote the targeted use of health care resources to maximise benefits for all patients and families affected by rare diseases in the UK.

Its programme advocates a coherent UK national strategy consisting of:

• Research into rare diseases
• Prevention and diagnosis of rare diseases
• Treatment of rare diseases
• Information on rare diseases for patients and the public
• Planning and actual commissioning of rare diseases facilities
• Care and support for rare disease patients

In the past decade, there have been innovative strategies for the establishment of multidisciplinary centres of excellence for patient and family care. The group plans to build on this existing infrastructure and expertise to expand the nationwide availability of such resources.[5]

The Rare Disease UK initiative is based on the European Council's Recommendation for action in the field of rare diseases.[6] The recommendation stressed strengthening research programmes in the field, encouraging the development of national rare disease policies, and developing and sharing common European guidelines, such as access to high quality information.

SWAN UK (syndrome without a name) [7] is the only dedicated support network available for families of children and young adults (0–25 years) with undiagnosed genetic conditions in the UK. SWAN UK is free to join and has been run by the charity Genetic Alliance UK since 2011.

In 2015, SWAN UK created an animation called ‘Ellie's story' explaining what it means to have an undiagnosed genetic condition and how SWAN UK helps, supported by House of Fraser.[8]

• Charity Commission. Genetic Alliance UK, registered charity no. 1114195.