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MPs listen to the concerns of patients and families with rare genetic conditions: Findings from the Family Route Maps project

3 March 2008
By Anna Allford
Project Officer, Genetic Interest Group
Appeared in BioNews 447
A reception at the House of Commons on 26 February, sponsored by Dr Evan Harris, MP, on behalf of the Genetic Interest Group (GIG), attracted 200 people, including 15 MPs and 6 Lords. Highlighting difficulties faced by individuals and families with rare genetic conditions in the run up to the first ever Pan-European Rare Diseases Day on 29 February, the focus was on the key messages and recommendations from the report of the Family Route Map project.

Developing Family Route Maps as a tool to help families with genetic conditions to access appropriate information and services in the UK was the primary objective for this groundbreaking and unique project.

Working in partnership with six Patient Support Organisations for the following genetic conditions;

  • Barth syndrome,
  • Gorlin syndrome,
  • Multiple Endocrine Neoplasia Disorders (MEN),
  • Myotonic Dystrophy,
  • Nail Patella syndrome, and
  • Syndromes Without A Name,

GIG established the need for clear 'signposting' to information and services and a resource that could be shared with healthcare professionals.

As GIG's Project Officer, I explained some of these six conditions may present in infants or children, whereas for others the onset is adolescence or adulthood and many patients are seen by a number of specialists before the diagnosis is made. Similarly, as described in the public consultation 'Rare diseases: Europe's challenges', many rare diseases are complex, degenerative and chronically debilitating, whilst others are compatible with a normal life - if diagnosed in time and managed and/or treated properly.

The project findings revealed seven important over-arching themes that were identified in relation to current care and future possible developments and these are discussed in more detail in the final Report launched on 5 March. The themes are; Information, Communication, Diagnosis, Treatment and Surveillance, Education of Healthcare Professionals, Ethical, Legal and Social Issues, and Empowerment of patients, parents and carers.

Many people expressed frustration at the lack of co-ordination and continuity in their care, and at having to constantly explain the condition and fight for what they need, saying that 'we need more doctors to listen to parents'. They describe themselves as 'slipping through the net' with no-one taking responsibility for them, as everyone thinks that someone else is caring for them. Patients and families affected by rare genetic conditions want equal access to care and for this care to be made available through, or coordinated by centres of expertise; 'Patients should be under the care of a specialist centre'. These are priority issues for the European Commission and rights to equal healthcare are also recognised in the Charter of Fundamental Rights of the EU.

Although this project focuses on six specific conditions, it is an important source of information about the patient experience of clinical management and commonalities such as the need for clinical guidelines are likely to apply to the majority of rare conditions. The findings suggest that the ability of the patient, their parents or carers, to feel empowered and actively take a role in managing their condition and be involved in shared decision-making is dependent on satisfactorily fulfilling their need for open discussion and the resolution of the issues and concerns expressed during this project.

The development of Family Route Maps will give patients access to information that they may otherwise have had to wait months or even years for, due to the rarity of the conditions and the inconsistent information that is available. This project has not only helped patients within the six condition groups, their families and carers to develop Family Route Maps but it will have a much wider impact as the project report provides a guidance for other patient support groups to use to develop their own Route Maps. A generic template is also available from the GIG website as a Microsoft Word or Publisher document.

The report makes several recommendations including:

  • A referral to the Clinical Genetics Service should be offered to all patients.
  • Clearer guidelines for treatment and surveillance of rare genetic conditions are required.
  • Coordinated care within a multidisciplinary team approach model of care preferably at a 'Centre of Excellence' is called for by patients to counter fragmentation across organisational boundaries.
  • Resources should be made available for Centres of Excellence or Networks of Expertise to offer services to patients within rare condition groups in order to ensure equitable access to care.
You can request a copy of the Report together with Family Route Maps for each of the six conditions. Please phone the GIG office on 020 7704 3141 or email.
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