Interpretation of genetic test results
Genetic testing results can be difficult to interpret. De novo mutations may be unpublished or functional studies may not have been performed. Many clinicians are faced with reports that list variants of uncertain significance within diabetes genes.
Some genes have very few variants within exons that are not disease causing (i.e. GCK). Other genes have a huge number of variants that are infrequent polymorphisms and not associated with disease (like PDX-1). This can result in patients being inappropriately diagnosed with MODY4 because of an infrequent or unpublished variant.
We encourage clinicians and patients to contact us to discuss their genetic testing results. A copy of the formal genetic testing result is always required.