Since genetic information was first used clinically more than a century ago, there has been an explosion in the number of genetic tests that are available, ranging from pre-conception planning to predicting the occurrence of late-onset neurological conditions.
However, University of Otago (Christchurch) pathology and biomedical science research associate dean and study leading member Associate Prof Logan Walker said interpreting the results of genetic tests remained a major challenge for healthcare professionals around the world.
Many identified genetic changes were still "an enigma", leaving scientists struggling to understand whether they caused harm or not.
"This lack of certainty causes anxiety for patients and their whānau, and prevents doctors from providing the best healthcare."
He said the new research looked set to add significant knowledge to genetic testing, which could pave the way for earlier intervention in the treatment of patients.
The study improved RNA diagnostics for laboratories worldwide, and he believed it would help people undergoing genetic testing to have more certainty about whether changes to their DNA increased their risk of disease or whether those changes had no medical relevance at all.
The Health Research Council-funded project involved scientists examining how changes to DNA affect a similar, but different, molecule called RNA.
Understanding if and how the RNA molecule was altered by a DNA variant could help diagnose the clinical relevance of that variant.
Analysing changes to RNA molecules also helped reduce reliance on population-based genetic methods, which were susceptible to ethnic biases which created inequity in healthcare, he said.
"There is much discordance in the way different laboratories examine the RNA molecule and draw their conclusions.
"Our study will act as an instruction manual for these laboratories to help improve and standardise their diagnostic methods.
"We’ve already received positive feedback from different diagnostic labs, which is extremely encouraging."
Assoc Prof Walker hoped the study would guide the activities of more than 50 international specialist groups affiliated with ClinGen, tasked with developing guidelines for their own disease specific genes.
