New genetic testing guidance could improve patient diagnosis worldwide

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Add as preferred source Credit: Pixabay/CC0 Public Domain New guidance co-led by University of Otago researchers could help more people with suspected inherited diseases receive a clear genetic diagnosis.

Published in Genome Medicine , the study provides new recommendations for using RNA testing to determine whether genetic changes are likely to cause disease—potentially helping clinicians resolve uncertain genetic test results and make more informed decisions about patients and their whānau.

Dr. George Wiggins, from the University of Otago, Faculty of Medicine-Christchurch, co-led the international study with researchers in Australia and Spain. His colleagues in the Department of Pathology and Molecular Medicine, professor Logan Walker and associate professor John Pearson, also contributed to the research.