Implementation and validation of whole-genome and transcriptome sequencing as a comprehensive diagnostic test in acute leukemia
Acute leukemia
Tumor DNA and RNA are extracted from bone marrow and/or peripheral blood samples collected as part of standard diagnostics. An additional sample (skin biopsy, buccal swab or other tissue) may be collected for extraction of germline DNA. In addition to standard molecular diagnostics, comprehensive genetic analysis, i.e. whole-genome sequencing and whole-transcriptome sequencing, will be performed. Comprehensive genetic analysis can lead to findings of inherited genetic variants of two major types: 1. Inherited genetic variants that are of importance for the development of blood cancer. All participants will receive information about this type of variants if they are carriers, and offered genetic counselling and recommendations from a specialist. 2. Inherited genetic variants that are of importance for the development of other diseases than blood cancer. This type of variants will not be searched for actively but may be found incidentally. When consenting to the study, participants can opt to receive information about this type of variants. If such variants are found, participants will be offered genetic counselling and recommendations from a specialist. Follow-up of participants will be according to standard healthcare protocols.
1. Patients with diagnosed or suspected acute leukemia, for whom a referral is written for genetic diagnostics 2. Patients of any age can be included
Patients or guardians that are unable to provide written informed consent