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Abstract
Background: Confirmation of monogenic diabetes by molecular genetic testing has allowed many patients, often previously assumed to have type 1 diabetes, to transfer from insulin injections to sulphonylurea tablets, with improvements in glycaemic control and quality of life: www.diabetesgenes.org provides information about monogenic diabetes and genetic testing.
Aim: To investigate key issues raised by individuals who e-mailed the monogenic diabetes team about genetic testing and monogenic diabetes management.
Methods: Sixty e-mail enquiries, received over a six-month period from patients and professionals worldwide, were analysed using a qualitative thematic content approach.
Results: Five themes emerged: 1. Accessing genetic technology: patients and professionals both enquired about access to testing; 2. Presentation of evidence: medical facts presented by patients and professionals included characteristics specifically relevant to diagnosing monogenic diabetes; 3. Experiences of healthcare: patients often researched their condition online and some felt dissatisfied with routine consultations; 4. Seeking specialist advice regarding treatment: specific information was sought relating to management of neonatal diabetes or monogenic diabetes and pregnancy; 5. Searching for a cure through genetic technology: patients questioned whether genetic advances would lead to a cure for diabetes.
Conclusion: This project offers the first insights into use of e-mail as a means of gaining access to a specialist monogenic team and information about genetic testing. Although providing advice via e-mail can prove complicated, particularly when received from patients under the care of other clinicians, it is an efficient means of communicating specialist knowledge. Study findings will aid development of a ‘frequently asked questions’ section of www.diabetesgenes.org.