Genetic testing advances revealed at European Human Genetics Conference

Genetic testing could prove useful for determining a diagnosis and prognosis for people with epilepsy, attendees at the European Human Genetics Conference heard.

Originally due to take place in Vienna, the conference hosted by the European Society of Human Genetics took place online due to COVID-19 restrictions between 28 and 30 August 2021. A team from Finland showed polygenic scores could be used to predict the progression of epilepsy, and a team from the Danish Epilepsy Centre in Dianalund, Denmark presented results showing one in four children referred for epilepsy diagnosis could benefit from early genetic testing.

'Genetic risk could serve in future as a biomarker for epilepsy,' says Dr Henrike Heyne from the Institute for Molecular Medicine Finland in Helsinki. 'This could prove to be a very useful addition to existing methods, such as electroencephalograms. [Polygenic risk scores] have been shown to be useful in many other diseases and it is likely that in the future their use may become standard practice, meaning that genetic data could help to make an epilepsy diagnosis immediately after a seizure.'

Dr Heyne's team in Finland used the FinnGen study to look at the health records of over 269,000 Finnish people over 50 years, including 9660 individuals with epilepsy diagnoses. They found people with epilepsy had higher polygenic scores than people who had never had a seizures and those who had experienced a single seizure but received no epilepsy diagnosis. This suggests genetic testing could help to predict the likelihood of an individual's epilepsy progressing.

The Danish team had sequenced the genomes of 290 children with epilepsy and discovered a genetic explanation for half of the cases, with half of those patients being able to go on a tailored treatment plan as a result of their genetic diagnosis.

Data showing a single test could be used to detect de novo mutations in embryos being selected for transfer during IVF, was also presented at the conference. Using long-read sequencing a team from Leuven, Belgium identified the de novo disease causing allele in the affected parent, and then screened embryos for these gene. They were then able to select unaffected embryos for transfer.

Chair of the conference, Professor Alexandre Reymond said of the discovery: 'Reproductive medicine started out with the goal of allowing infertile couples to have children. Progress has been rapid in the 43 years since the birth of the first IVF baby, leading to many advances, including in prenatal diagnosis. Now, through long-read sequencing, it can take yet another step forward and help "genetically at risk" families in their desire to have unaffected offspring.'

Further data taken from the FinnGen study was presented at the conference, and showed genetic and environmental factors could be used to predict a person's likelihood of adhering to a medicine regime, while a team from Sweden showed DNA could reliably be extracted from dried blood spots taken at birth, and used to support postmortem diagnosis of sudden cardiac death in under 35 year olds.