University of Bonn Institutes Embrace FDNA’s Facial Analysis to Improve Diagnosis of Rare Diseases

Rare Daily Staff

The Institute for Genome Statistics and Bioinformatics and the Institute of Human Genetics of the University Hospital of Bonn, said there are integrating FDNA’s Face2Gene suite of applications to further precision medicine increase the diagnostic power of genetic testing in rare diseases.

The Institutes called it a “first of its kind” use of the technology in Germany.

Face2Gene is used by clinical geneticists worldwide to evaluate syndromes, genes, and phenotypes that correlate with patients’ facial and clinical analysis. The technology compares patient clinical phenotypes and facial analysis to known disease-causing genetic variants, supporting clinicians as they diagnose their patients.

In most instances, genetic testing of rare disease patients yields a diagnosis in only 25 percent of cases. The collaboration will augment genetic testing with facial analysis and artificial intelligence technologies that are expected to increase the diagnostic yield of molecular testing for thousands of rare diseases, the institutes said.

The collaboration is an effort to improve the speed at which people with rare diseases are diagnosed. On average, a rare disease patient sees seven doctors over seven years before reaching a diagnosis. The belief is this timeline can be shortened by getting available clinical data efficiently transmitted to the diagnostic labs.

“We are excited to integrate patient clinical data into our genetic interpretation pipeline to help find answers for the patients we serve,” said Peter Krawitz, head of the Institute for Genome Statistics and Bioinformatics. “We expect Face2Gene’s facial analysis and phenotyping insights to make a significant impact on our molecular interpretation, ensuring University Hospital Bonn continues as a leading genetic services center.”

November 7, 2017