Short summary

Whole genome sequencing has been performed in order to find likely genetic causes of neurologic disorders, metablic disorders and handicap in children and adolescent and in whom previous genetic tests have been negative. Positive as well as negative data from WGS analyses performed in years 2022 and 2023 are collected. ACMG categories as well as interpretation of WGS data and fit to each child´s clinical data are compared and registered. Negative results will be considered for new technologies

Rationale

In daily clinical settings, caring for children and adolescents with handicap, that could be due to genetic causes, it means a lot for clinicians as well as parents and families to find a robust cause of disease. With the introduction of WGS in Denmark from beginning year 2022, positive results have had major consequences for understanding the genetic background for diseases. We aim to gather information on WGS results as well as clinical data from approximately 1600 children, to clarify on validity, consequences for treatment and follow-up, and genetic counsel to families. Furthermore, we will explore on negative WGS results to decide on new approaches of genetic analyses, to whom they may be applied and to perform such analyses in near future

Description of the cohort

Medical records as well as results of genetic analyses will be approached. It is estimated, that data from 1600 children will be included. No new analyses will be performed during the period of data collection, ranging from December 2025 and 8 months forward. Parents gave written consent a the time of blood sampling for WGS analysis.

Data and biological material

Data on results og WGS analyses are included in each medical record. Medical records will be approached and data will be collected from both. Parents will not be contacted - but will be asked to give written consent for possible future analyses of DNA in those cases, were negative WGS results from years 2022 and 2023 have been obtained.

Collaborating researchers and departments

Departments of Pediatrics and Genetics, Aalborg University Hospital

• Ninna Brix, MD, PHD (pediatrics)
• Janni Majgaard Jensen, MD, PHD (genetics)

Departments of Pediatrics and Genetics, Aarhus University Hospital

• Niels Matthiesen, MD, PHD (pediatrics)
• Ioanna Milidou, MD, PHD (pediatrics)
• Pernille Axèl Gregersen, MD, PHD (genetics)

Department of Pediatrics, Kolding Hospital and Esbjerg Hospital and Genetics, Vejle Hospital

• Line Carøe Sørensen, MD, PHD (pediatrics),
• Yanko Petkov, MD (pediatrics)
• Maria Rasmussen, MD, PHD (genetics)
• Christina Fagerberg, MD (genetics)

Department of Pediatrics and Genetics, Odense University Hospital

• Niels Illum, MD, PHD (pediatrics)
• Trine Maxel Juul, MD,PHD (genetics)
• Lilian Bomme Ousager, professor, PHD (genetics)

Department of Pediatrics, Herlev Hospital and Genetics, Rigshospitalet

• Nanette Mol Debes, MD, PHD (pediatrics)
• Gitte Rønde, MD, PHD (pediatrics)
• Elsebeth Østergaard, professor, PHD (genetics)

Department of Pediatrics, Hvidovre Hospital and Genetics, Rigshospitalet

• Mimoza Frangu, MD (pediatrics)
• Ardiana Ala, MD (pediatrics)
• Lykke Aviaaja Birkemose Holm, MD (pediatrics)
• Elsebet Østergaard, professor, PHD (genetics)

Department of Pediatrics and Genetics, Rigshospitalet

• Christina Høi-Hansen, professor, DMSCi (pediatrics)
• Elsebet Østergaard, professor, PHD (genetics)