The Belgium Health Care Knowledge Centre (KCE) recently published a review on oncogenetic testing, diagnosis and follow-up in Birt-Hogg-Dubé syndrome as part of a review of predicative genetic tests for skin cancer.

The KCE assessed literature and current guidelines to develop its recommendations for the diagnosis of BHD and for genetic testing and counselling in suspected BHD patients. These guidelines are heavily based on the European BHD consortium published guidelines but with additional guidelines for genetic testing in patients that fulfill only one minor criteria or have a family history suggestive of BHD.

KCE also recommends follow-up monitoring including regular MRI scans, with possible alternatives of ultrasound or low-dose CT as required.