Different laboratories had used differing criteria to define and assess the risk of heritable diseases determined by genetic testing, Associate Professor Logan Walker said. (file picture) Photo: Tek Image / Science Photo Library / ABO via AFP
Different laboratories had used differing criteria to define and assess the risk of heritable diseases determined by genetic testing, Associate Professor Logan Walker said. (file picture)
Diagnosis rates for patients undergoing genetic testing may be improved by guidelines developed in University of Otago-led research .
Associate Professor Logan Walker from the University of Otago, Christchurch's, Department of Pathology and Biomedical Science was a leading member among eight international researchers who developed guidelines to standardise and improve genetic testing.
Walker was joined by fellow New Zealander, Dr George Wiggins and other colleagues in the United States, Australia and Spain.
Their work was published in The American Journal of Human Genetics.
Genetic testing has been used for decades to manage heritable diseases, but Walker said different laboratories had used differing criteria to define and assess risk.
"The study will help people undergoing genetic testing to have more certainty - whether changes to their DNA increase their risk of disease or whether those changes have no medical relevance at all," he said.
"Genetic testing enables disease-associated DNA changes to be identified so patients can receive the best treatment or preventative therapies. However, many identified genetic changes are still an enigma, with scientists struggling to understand whether they cause harm or not. This lack of certainty causes anxiety for patients and their whānau, and prevents doctors from providing the best health care."
The Health Research Council-funded project focused on a developing area known as RNA Diagnostics, which involved examining how changes to DNA affected RNA.
Understanding if and how an RNA molecule was altered by a DNA variant could aid in diagnosing the clinical relevance of that variant.
It also improved healthcare equity as analysing RNA changes helped reduce reliance on population-based genetic methods which were prone to ethnic biases.
The guidelines would help diagnosticians in New Zealand and had relevance for those at risk of several cancers, rare diseases and other illnesses.
"There are a lot of diseases which are impacted by the genetic code we're born with and this information we've developed is going to be important for anybody where there's a hint their genetic code may be elevating risk of disease," Walker said.
"In some cases it's about determining who's at high-risk for a disease and a doctor is then able to offer interventions that might reduce the risk significantly. For some diseases it might be more about family planning and providing the family with information ... and in some cases it might be treating symptoms rather than the disease."
