Many diseases have a genetic component. Multiple genes often play a role in them, making finding out the exact cause of the disease, and thus identifying possible treatment options, very complex. Besides genetics, environmental factors can also determine whether a disease is expressed. Diagnosis of a genetic disease can be made by analysis of genetic material, for example with new-generation DNA sequencing techniques. Genetic testing analyses whether relatives of the patient have an increased risk of the disease: one examines the disease history of several family members and creates a family tree. Additional research such as DNA diagnostics can also be performed. An example of screening in children is the rare cystic fibrosis, which is checked in newborns via the heel prick. Starting treatment at an early stage often increases the chances of success. Besides defects in the genes themselves, gene regulatory processes also appear to be partly responsible in hereditary diseases. Little is still known about these epigenetic processes. They probably play a role in the large variation in responses to medication in people with the same genetic defect. Cancer research has clearly revealed these individual variations. They result in a seemingly uniform genetic defect requiring personalised treatment to reap effects. Whether these epigenetic processes can also be easily screened, future research will have to show.
Connecting character
The Netherlands is an international leader in translating genetic technologies and knowledge to the clinic. For instance, the first gene therapy product registered in Europe for the rare disease lipoprotein lipase deficiency (LPLD) was developed in the Netherlands. Particularly in hereditary cancer research, the Netherlands is an international leader. Economically, the importance of early detection of an inherited disease is high, as it can significantly improve the chances of effective treatment of the disease, thereby saving healthcare costs. From a scientific point of view, several challenges exist. firstly, we need to get to grips with the genetic and epigenetic complexity. In addition, it is necessary to keep developing and improving screening technologies. The screening methods themselves must become simpler, more reliable, less invasive and cheaper. And their fields of application should be expanded so that new and more effective treatments can be developed for more diseases. This research links scientific interest with a societal challenge and offers economic opportunities.
