Published: 04-05-2023 10:33 | Updated: 05-05-2023 10:31

Cost-effective to diagnose intellectual disabilities with whole genome sequencing

Dad and child walking together
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Researchers at Karolinska Institutet and Karolinska University Hospital have together with health economists at Linköping University analyzed costs for various methods to diagnose genetic causes of intellectual disability. The study, published in Scientific Reports, shows that the costs when using whole genome sequencing as a first-line diagnostic test were lower compared to chromosomal microarray analysis.

Anna Lindstrand
Anna Lindstrand, adjungerad professor i klinisk genetik Foto: Stefan Zimmerman.

An examination of the entire gene set, so-called whole genome sequencing, WGS, gives a better answer than previous methods when intellectual disabilities are investigated, and new findings shows that the method is also more cost-effective.

In this study, a health economic evaluation was made of 89 individuals with intellectual disability, ID, who underwent early diagnostics with whole genome sequencing at the Clinical Genetics Department at Karolinska University Hospital. After 2 years, 9.4% lower healthcare costs per individual were observed compared to 418 individuals who underwent traditional genetic investigation using micro-array technology, CMA.

“The study shows that WGS as a first-line diagnostic test for individuals with ID is associated with lower costs and a higher diagnostic yield compared with CMA”, says Anna Lindstrand, Senior Physician and Professor of Clinical Genetics at the Research Group Rare Diseases, Department of Molecular Medicine and Surgery.

This indicates that whole genome sequencing should be used as the dominant strategy when investigating these individuals.

This study was supported by grants from Medical Diagnostics Karolinska, the Swedish Research Council, the Swedish Rare Diseases Research Foundation, the Swedish Brain Fund, the Karolinska Institutet Research Foundation and the Stockholm County Council.

Some of the researchers in the team are active within Genomic Medicine Sweden (GMS), both in Genomic Medicine Center Karolinska (GMCK) and Genomic Medicine Center Sydöst (GMC Sydöst).


The cost-effectiveness of whole genome sequencing in neurodevelopmental disorders.
Runheim H, Pettersson M, Hammarsjö A, Nordgren A, Henriksson M, Lindstrand A, Levin LÅ, Soller MJ
Sci Rep 2023 Apr;13(1):6904