Scientists are becoming increasingly preoccupied with the idea of designing DNA-based analysis tools – so-called genetic risk profiles– that are able to give an educated estimate of an individual’s risk of eventually developing certain disorders. And there are several reasons for this, as Andrew Schork, PhD in cognitive science and Lundbeck Foundation Fellow in 2020, explains:
‘The idea is that we should be able to offer better therapies, tailored to the individual patient, using genetic risk profiles. But it’s also a question of prevention. If a risk profile can tell us whether we are genetically predisposed to developing a particular disease, there may be things we can do ourselves to prevent outbreak of that disease,’ says Andrew Schork, senior researcher at Institute for Biological Psychiatry (IBP) under the auspices of the Mental Health Services in the Capital Region of Denmark.
Due to his Lundbeck Foundation Fellowship, he is now able to establish his own research group at IBP, and the aim is to be able to build genetic risk profiles for mental disorders such as schizophrenia, ADHD and depression. But how do we go about it?
Firstly, as Andrew Schork says, it is important to stress that genetics cannot explain everything, and psychiatric profiles of this kind are not yet imminent:
‘It will take a long time – several years – to reach that point. But you have to start somewhere, and to a certain extent we’ll draw inspiration from the efforts currently underway to build risk profiles for somatic diseases, for instance for some types of cancer.’
Simplistically put, a genetic risk profile is based on large volumes of data on diseases collected from patients, combined with their DNA details. The scientists examine whether these patients have any special ‘patterns’ of genetic variations which are not seen with the same frequency in healthy individuals. Andrew Schork explains that he will also take a closer look at the data of individuals who have these patterns but who are not ill:
‘This may be due to preventive factors such as good social conditions while growing up. And we’d also like to study this, because knowledge of this kind is invaluable when it comes to preventing illness.’
The data Andrew Schork will be working with come from the Lundbeck Foundation Initiative for Integrative Psychiatric Research (iPSYCH). This is a vast research project – and a database – that gives access to anonymised but extremely detailed health data, based on the Danish civil registration (CPR) number, DNA data and social data of 130,000 Danes born between 1980 and 2005. Around 90,000 of these individuals have received treatment at a psychiatric hospital, whereas the remainder act as healthy controls.
This vast volume of data collected from 130,000 Danes forms the backbone of Andrew Schork’s project. However, in order to build the psychiatric risk profiles, he needs to pair the data with the new studies, regularly being published by researchers all over the world, of patterns of genetic variations in a range of mental disorders.
Andrew Schork believes that, in principle, it ought to be possible to use these analyses to build a genetic risk profile for each psychiatric disorder:
‘If the resulting profile shows that someone is vulnerable, it does not necessarily mean they’ll develop the disorder over time. But it’s a valuable indication of how important it is to ensure the best possible prevention, for instance by guarding against stress.’