News and Events

First in Israel: Advanced Optical Genome Testing at Rambam

Publication Date: 7/3/2023 12:00 PM

The Israeli Ministry of Health has given Rambam Health Care Campus (Rambam) in Haifa, Israel, approval to use advanced optical genome mapping to help determine the best treatments for patients with blood cancer.

L-R: Dr. Karin Weiss and Professor Tsila Zuckerman. Photography: Rambam HCC.L-R: Dr. Karin Weiss and Professor Tsila Zuckerman. Photography: Rambam HCC.

Optical genome mapping (OGM) is a new technology that is used to identify structural changes in genes with high accuracy and resolution. Rambam recently received approval from Israel’s Ministry of Health to integrate OGM with other diagnostic modalities for selecting the best treatment for blood cancer patients and determining which patients need bone marrow transplantation.

When the direct cause of a medical condition is unknown, this revolutionary high-resolution technology makes the diagnosis of cancer and rare genetic diseases in children possible. Furthermore, OGM will provide invaluable data for under-researched areas.

Professor Tsila Zuckerman, director of the Hematology and Bone Marrow Transplantation Institute at Rambam, explains that the information provided by OGM is more detailed and accurate than other traditional gene mapping techniques. She explains, “Since OGM is more sensitive than current mapping techniques, it makes it possible to decide, and with a higher level of certainty, which patients need bone marrow transplants.”

Dr. Tamar Paperna, director of the Genetics Laboratory and Nivin Moustafa-Hawash, head of the Cytogenetics Laboratory – both in the Genetic Institute at Rambam explain that traditional genetic testing may be performed in one of three ways: karyotype testing is used to identify chromosome abnormalities but produces low-resolution images; fluorescent in situ hybridization (FISH) targets specific areas of the chromosome known to have genetic abnormalities; and the third method analyzes DNA using a genetic chip. However, compared with OGM, these methodologies are less reliable. They detect congenital anomalies in only fifty percent of the samples tested. On the other hand, OGM is able to identify all genetic abnormalities, and the test results are available much sooner.

Now that OGM has been approved for use, Rambam is creating a new database that will include OGM test results. Following anonymization, the data will be used to research genetic changes and their implications, with the goal of improving the medical care cancer patients receive worldwide, as well as in Israel and at Rambam.

Dr. Karin Weiss, director of the Genetics Institute at Rambam, maintains that OGM technology will eventually be used to diagnose other diseases, tumor types, and cases of unresolved hereditary diseases in children. “After much testing, there are many conditions we have not been able to diagnose in children, but a genetic condition is suspected. Thanks to OGM – a new generation of gene mapping, I believe we can diagnose more cases and hopefully provide a better outcome for our patients and their families.”

The Genetic Institute at Rambam provides comprehensive genetic services for its patients and serves as a referral center for community clinics and other hospitals in Israel. The institute provides counseling and diagnostic services for adult and pediatric patients with suspected genetic disorders and their relatives. The Genetic Institute is engaged in a variety of exciting research projects aimed at deciphering the molecular basis of a range of genetic conditions, both rare and common.

Based on a Hebrew article that appeared in ‘Israel HaYom’ online edition.