Past Project Archive: Family Route Map

Family Route Map - 2007

The Family Route Maps project was funded by the charity Jeans for Genes 
and an unrestricted educational grant from Genzyme Therapeutics Ltd.

The results can be found here.

Anna Allford was the Project Officer for this unique and innovative user-led project to develop Family Route Maps as a Tool to help families with genetic conditions to access appropriate information and services in the UK, worked in partnership with individuals and families affected by the following genetic conditions: Barth syndrome; Gorlin syndrome; Multiple Endocrine Neoplasia Disorders (MEN); Myotonic Dystrophy; Nail Patella syndrome; and Syndromes Without A Name (SWAN).

A project Advisory Group helped oversee the developments and progress throughout the project and we were grateful for the expertise and help of the following members;

Dr Paul Brennan
Clinical Geneticist
Northern Genetics Service
Newcastle upon Tyne

Dr Ian Ellis
Clinical Geneticist
Clinical Genetics Service
Liverpool Womens Hospital

Dr Mike Knapton
GP, Cambridge
and Clinical Director
The British Heart Foundation

Steve Potter
Therapy Liaison Manager
Genzyme Therapeutics Ltd

About The Project

It was agreed that listening to the concerns of patients, families and carers was essential.  Workshops were held for each condition with the aim to explore information and services currently available to these families as the first stage in the development of the Route Maps and also to ask them what they would like to see included.

Additionally, an on-line questionnaire was made available through the Genetic Alliance UK website with links to the websites of the six Patient Support groups, and interviews with clinicians and other healthcare professionals with expertise and experience in these conditions were undertaken.

A focus group with General Practitioners (GPs) discussed the concerns and issues raised in the patient focus groups through a series of vignettes presented for discussion.

Results of the Project

Our 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.  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.  These themes formed the basis for the development of the six condition-specific Family Route Maps and a template that could be used generically by other Patient Support Organisations.

Key Messages

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 key messages are:

  • People want to receive up-to date quality information;
  • Good communication between patients and their healthcare professionals and also between professionals involved in their care is vital;
  • Early and correct diagnosis could potentially offer improved health and quality of life for people living with long-term genetic conditions;
  • Appropriate treatment and surveillance is essential for patients and families with genetic conditions;
  • Healthcare professionals require more training in genetics and its implications for families and should be willing to learn jointly with patients about their specific condition;
  • Knowledge and understanding of the ethical, legal and social issues of living with a genetic condition are crucial for people to make decisions.

The report makes several recommendations:

  • Up-to-date training and education in genetics for all healthcare professionals should be a requirement for their continuing professional development.
  • Greater awareness of rare genetic conditions amongst the medical profession could lead to earlier diagnosis for patients with rare genetic conditions.
  • Better communication between patients and professionals and also between professionals involved in their care would enable patients to make informed choice.
  • 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.
  • Provision of counselling and psychosocial care should be made available to all who request it.
  • In primary care, practice nurses could be a resource for reliable sources of information for patients and families and provide continuity of care with much needed psychological support.

Reports and publications from the project are listed below:

Final Report - February 2008
The Family Route Map Project: Finding a way through the maze (pdf 1.5Mb - may take a while to download)
Executive Summary (pdf 176Kb)

Six Family Route Maps produced as part of this project in PDF format.

Templates for generic Family Route Maps:

These templates are designed to be used in conjunction with the Report of the findings of the Family Route Map project. They can be freely used by Patient Support Organisations to help develop their own Family Route Map.

They are available as either a document in Microsoft Word or Publisher.

Developing the content for your Family Route Map:

Please find below some suggestions and an example topic guide for discussion at a focus group for individuals and families/carers together with a questionnaire that we used to widen the participation and include those who were not able to attend the focus groups. These can be used by Patient Support Organisations to help create your Family Route Maps.

Focus Group Topic Guide and Family Route Map Survey

Additionally, once you have put together your first draft of the Family Route Map using information gathered through your focus group(s) and possibly the survey, then you may like to test the quality by sending out a printed leaflet to some individuals and families and also healthcare professionals with an interest in the condition, using the questionnaire below;

Quality Survey

The next stage is to revise the leaflet using the feedback from those who have reviewed it and then send out this second draft copy to them (and/or others) again, the pilot questionnaire below can be used for this and will help ensure that people feel your Family Route Map is both informative and useful.

A document written by Mike Knapton, GP and Advisor on the Family Route Map Project with help from the other Advisory Group members to help patients understand how referring between services happens in the NHS.

Focus Group Report - March 2007
There are two versions of this report in PDF for downloading.

Further information

If you would like a copy of the project report The Family Route Map Project: Finding a way through the maze together with the six condition-specific Family Route Maps please contact the Genetic Alliance UK offices.