Pediatric endocrinologist Scott Blackman discusses his research on how well a risk assessment tool can predict cystic fibrosis-related diabetes over the next one to five years, using a person’s clinical data and genetics. This topic was presented during the 2023 North American Cystic Fibrosis Conference.
Hello. My name is Scott Blackman, pediatric endocrinologist at Johns Hopkins. This is a presentation from the 2023 North American cystic fibrosis conference. Cystic fibrosis is a genetic disorder affecting multiple tissues in the body, including the lungs, the intestines and both the endocrine and exocrine pancreas. People with CF have a high risk of developing diabetes over time. CF related diabetes causes worse lung function, weight loss and earlier death and earlier detection of the diabetes can prevent these bad outcomes. Current guidelines recommend annual testing using an oral glucose tolerance test for all people with CF. However, the risk of CFRD actually depends on known risk factors that we and others have found both clinical such as weight and lung function and also genetic, which is both the CF gene and other genes scattered through the rest of the genome known as genetic modifiers. In this work, we constructed a risk assessment tool to see how well CFRD could be predicted over the next 12 and five years using a person's clinical data and their genetics. We built and tested the model on retrospective data from independent samples of more than 500 individuals with CF we found that we could come up with a personalized CFRD risk assessment that allowed reducing the testing frequency in some and increasing the testing frequency in others. This personalization strategy is important but because it means that we can tailor the diabetes testing to those who need it the most and allows us to reduce the testing when it's not needed. We are now working to add more risk factors to the model and also to bring it to the point of care in the clinic where clinicians and patients will have this information available in a diabetes dashboard to better inform their decision making. Thank you.