Unmet Need
Since its implementation in the 1960s, DNA fluorescence in situ hybridization (DNA FISH) has grown to be an important, powerful and sensitive technique for the detection of chromosomal abnormalities and changes in gene expression levels in microbes, cells and tissues for research and diagnostic applications. For example, in breast cancer DNA FISH is used to detect and diagnose an individual with amplified HER2, a process that may take a few days when an answer is needed urgently. Despite such technological advancements, there remains a need to improve technical components of traditional DNA FISH such as eliminating denaturing conditions, improving signal-to-background ratio, and reducing detection time.
Technology Overview
Johns Hopkins researchers have developed Genome Oligopaint via Local Denaturation Fluorescence in Situ Hybridization (GOLD FISH), an improved DNA FISH technology, with significantly improved detection time—potentially facilitating clinical diagnosis. GOLD FISH is unique because of its high labeling efficiency and flexibility in target labeling, lending to a high detection efficiency of several disease-causing gene amplifications compared to other enzymatically processed FISH techniques, proving its capacity to be used not only as a significant diagnostic tool, but research tool as well.
Stage of Development
The technique could be used commercially in its current form, but will likely require validation studies compared to standards of care in cancer diagnostics for more wide-spread adoption. These could be developed in the laboratory research setting or have potential to be the center of an independent oncology diagnostics startup with a focus on partnering with therapeutics as a companion diagnostic.
Publication
Wang Y, Cottle WT, Wang H, Gavrilov M, Zou RS, Pham MT, Yegnasubramanian S, Bailey S, Ha T. Achieving single nucleotide sensitivity in direct hybridization genome imaging. Nat Commun. 2022 Dec 15;13(1):7776.
