Genetic testing for diabetes: creating the guidelines together
Towards best practice guidelines for genetic testing of monogenic subtypes of diabetes
Diabetes mellitus exists in a variety of subtypes. Besides the best known and most common multifactorial type 1 and 2 diabetes are some types which are much more uncommon that are caused by a mutation in one single gene (monogenic subtypes). Patients with such a subtype of diabetes are however often diagnosed with diabetes type 1 or 2.
Patients with a monogenic type of diabetes, such as MODY (Maturity-Onset of the Young), sometimes need other medication than patients with type 1 or 2 diabetes. In addition, there is a chance that their direct relatives have the same mutation, and thus an increased risk to get diabetes. Testing for these mutations in diabetics can have several advantages: patients get the optimal treatment (personalized medicine), their relatives with increased risk can be monitored and relatives with no increased risk do not have to be monitored.
DNA-tests for monogenic types of diabetes have been possible for some years in the Netherlands, but few people have been tested so far. There proved to be many questions from the field of health care workers. Under which conditions should DNA-tests be called for, and under which conditions should they not? And what are the opinions of, for example, health care workers, their professional organizations, patient organizations and insurance companies?
In addition, little is known about how patients and their relatives experience genetic tests for diabetes. Which considerations determine their choice for testing or not testing? How do they experience the provision of information on the test and its result?
The aim of this study is to combine all the information on genetic testing for diabetes genes, so they can serve as a foundation for broadly supported guidelines for health care workers. Researchers will use literature, interviews with stakeholders and stakeholder workshops to get the different stakeholders together and exchange views.
The study should stimulate health care workers, patients and insurance companies to reach a consensus about the guidelines for the application of DNA-testing, interpretation of the results and provision of information to patients and their relatives. Furthermore, this study can serve as an example for creating guidelines for other monogenic subtypes of multifactorial diseases.
More information about this project.
Start project: March 2011.