July 12, 2021Erica Tennenhouse, PhD
Researchers have developed an all-in-one approach to chromosomal analysis that incorporates FISH, karyotyping, and copy number variant microarrays. This new optimal genome mapping (OGM) method could serve as a simple and affordable alternative to conventional cytogenetics approaches.
In their proof-of-concept study, published in July in the American Journal of Human Genetics, the researchers applied their OGM method to 85 samples from patients with hereditary disorders. High-resolution OGM reached 100 percent concordance with standard assays; the method uncovered 99 chromosomal changes in the patient samples, including deletions, duplications, insertions, inversions, translocations, and complex rearrangements.
In a related paper, also published in July in the American Journal of Human Genetics, the same researchers used OGM on samples from 52 individuals with hematological malignancies. The method detected all clinically reported aberrations in the 36 simple cases, including deletions, insertions, inversions, aneuploidies, and translocations. For the 16 complex cases, the OGM results were largely concordant with standard cytogenetic techniques, but often revealed higher complexity.
Taken together, the researchers argue that these results demonstrate the utility of OGM in clinical settings, and its potential to replace routine cytogenetic testing. OGM they write, could give rise to an era of next-generation cytogenetics.