A summary of the report is included below. 

Aims:

To explore patients' experiences and preferences of the provision of genetic information by healthcare professionals outside specialist genetics services in the UK

• Where do patients get information about the genetic basis of their condition?
• How would they prefer to receive such information?

Methods:

Telephone interviews explored the views and experiences of 27 people with or at risk of a genetic condition and parents of children affected by a genetic condition. The approach was informed by patients, the value of patients telling their stories and sharing their experiences was raised by a patient focus group in 2005.

Potential participants were approached through UK patient organisations and consultation groups; the Genetic Interest Group; the Patient Interest Group of the North West Genetics Knowledge Park and the Patient Consultative Panel of the Human Genetics Group.

Results:

Health professionals need greater awareness of genetics

• Patients perceived a need for healthcare professionals to have greater awareness of genetic aspects of conditions and be more willing to consider the possibility of a genetic condition.
• Eleven participants gave examples where they felt that greater awareness would have led to earlier diagnosis or more appropriate treatment.

Healthcare professionals need to identify and refer patients

• Patients acknowledged that healthcare professionals cannot have detailed knowledge about all genetic conditions.
• However, they felt that identifying and referring patients appropriately was important. This requires healthcare professionals to recognise the limitations to their own knowledge and expertise.

Genetic information can have a large emotional impact

• Awareness of the emotional impact of genetic information for individuals and the wider family was considered important.
• People described how genetic information can lead to feelings of guilt or blame within families, or may raise issues that have not previously been openly discussed, such as the death of a family member.

Family practitioners have an important role

• Family practitioners were viewed as the best group to provide ongoing support and coordination of information.
• This role was considered important, as patients sometimes felt their care was fragmented and valued co-ordinated care.
• Some patients felt unsupported after they had been given genetic information. Others had felt supported by their family practitioner, and described the feeling that someone was on their side.

Patients prefer a range of information providers

• Whilst they recognised the value of information from specialist services ... some patient would prefer their speciality consultant, with whom they had established a rapport, to be more involved in the provision of genetic information.

Conclusions:

• Patients recognise that healthcare professionals outside specialist genetics services play an important role in the provision of genetic information.
• A wide range of professionals may be approached by patients who want to know more about the genetic basis of their condition. Some patients would prefer their speciality consultant and their GP to be involved in the provision and co-ordination of information.
• These results have implications for the education of healthcare professionals if patients expectations are to be met.

Practice Points:

Advice for healthcare professionals providing genetic information

• Provide up to date information
• Provide information in a non-judgemental and unbiased way
• Be mindful of your use of terminology

  "Don't ever call anyone a "mutant"; although it might be the technical scientific term. It's not a nice thing to call anyone".

• Tailor the information provided to the preferences of individuals.
• Inform people where they can access further information. This might include:

            *providing written materials that they can re-read

            *inviting patients to come back if they have further questions

            *inform patients and families of relevant patient support groups

            *informing patients of reliable websites

A copy of the publication can be obtained from:

For orders of publication quote: ISBN 978-0-9556680-0-5 Tel: 0121 621 6987. 

We are grateful to Sarah Burke, Catherine Bennett, Julie Bedward and Peter Farndon for their work on this project and for feeding back the results. Details below.

National Genetics Education and Development Centre

Supporting Genetics Education and Health, School of Education, University of Birmingham