Who Should Be Tested?

Genetic testing can diagnose many forms of monogenic diabetes. Because it is so rare, relatively few people will be diagnosed with monogenic diabetes, as Lilly Jaffe was. But the number could run into the tens of thousands, worldwide. And it clearly illustrates how research advances can quickly and dramatically change the lives of people with diabetes for the better.

You might want to consider testing for monogenic diabetes if you or your family member meet the following criteria:

• diagnosed with diabetes during the first six months of life,
• familial diabetes with a parent affected,
• mild fasting hyperglycemia (high blood sugar), especially if young or familial,
• and/or diabetes associated with extra pancreatic features.

Some tests that help differentiate monogenic diabetes from type 1 diabetes are simple and relatively inexpensive; parents of children who were diagnosed with type 1 diabetes at an early age should discuss with their physician whether such a test was conducted at the time of diagnosis, as such testing is typically not done.

A correct diagnosis that allows the proper treatment to be selected should lead to better glucose control and improved health in the long term. Testing of other family members may also be indicated to determine whether they are at risk for diabetes.