Neurogenomics in routine diagnostics of children and adults: impact on patient care and cost-effectiveness (NEUROGENOMICS FINLAND)


In short, what is your research project about? What are you researching and why?

The NeuroGenomics project aims to evaluate the effectiveness and impact of current personalised genomic technology as the first-line diagnostic tool in progressive neurological diseasesof adults and children, a large disease entity with substantial burden to individuals, families and society at large. Our multidisciplinary approach combines the fields of clinical and molecular neurology, genetics and bioinformatics with health economics to generate interdisciplinary knowledge and discussion that is needed in order to overcome the challenges of integrating personalised genomics into the healthcare system.

There is much talk about multi-, trans- and interdisciplinarity nowadays. Are these merely trendy buzzwords for scientific collaboration, or do they serve an instrumental purpose in your project?

In our project, the participating molecular neurology research groups have extensive experience in using genome technology methods in their focus areas within the field of neurology. The patient recruitment and evaluation, in turn, will be done at Helsinki University Hospital by the participating clinicians. For the evaluation of the effectiveness of clinical neurogenomics, the expertise of VATT will broaden the analysis to cover its benefits and risks for the patients, the healthcare system and the society. All participating groups are experts in their own fields but our aim is to combine the expertise of each group to form a more comprehensive understanding of our research topic in relation to public healthcare and society. We do not expect that combining the practices of different study fields is easy, but working together towards the same goal will be enlightening for all of us.

Research into personalised health involves an integrative “from-research-to-practice” mindset. Where do you place your own research in this context? Does your project have partners that are not research-related partners?

Overall, this project is expected to establish information that will enable the generation of national health guidelines for the use of personalised genomics in neurological diseases. The data obtained from this pilot project will generate a roadmap for genomic diagnosis in disorders with a genetic basis in all fields of medicine. In practice, the study will have a direct impact on many of the participating patients and their families.

A big fuss over nothing, or a major change in practices? In your estimation, how and when will the effects of the promotion of personalised health be evident in the healthcare system?

Genome-wide technologies are not currently in routine diagnostic use for neurological diseases in Finland, mostly because of the high costs and a lack of local accredited service providers for clinical use. However, we still lack studies that compare the costs of rapid genome diagnostics with the total costs of traditional diagnostic procedures, which in many cases may be done over several years. Such comparative data will be generated in this study.

Last modified 2 Dec 2015
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