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Mustafa Khokha, MD Saquib Lakhani, MD Patrick Gallagher, MD

Technique is a “game-changer” in identifying and treating genetic illnesses

YNHCH one of eight children’s hospitals nationwide using rapid whole genome sequencing

At Yale New Haven Children’s Hospital, the frontiers of human genetics are being advanced through rapid whole genome sequencing, a technique that allows physicians insight into the causes of previously undiagnosed diseases and provides information for improving patient outcomes.

Whole genome sequencing, the mapping of a person’s unique DNA, can take weeks to complete, but YNHCH is doing it in just days using rapid whole genome sequencing (rWGS). The hospital is one of only eight in the country that offer rWGS.

Yale School of Medicine’s Mustafa Khokha, MD, associate professor of pediatrics (critical care) and genetics, and Saquib Lakhani, MD, clinical director, Pediatric Genomics Discovery Program, are leveraging this new technique in YNHCH’s Pediatric Intensive Care Unit. The pair were inspired by their work caring for critically ill children.

Noting that birth defects are the biggest cause of infant mortality in the U.S. today, Dr. Khokha said physicians could previously treat symptoms, but didn’t know the causes. With recent technological advancements in genomics, he and Dr. Lakhani can begin providing answers that were unattainable just a few years ago.

The work can be particularly powerful when a child has an undiagnosed birth defect. Dr. Khokha and Dr. Lakhani surmise that in some of these cases, there may something wrong genetically. If a gene that controls a process of embryonic development is not working, for example, organs may not form properly, resulting in critical illness.

“With rapid whole genome sequencing, we can get a sample of the patient’s DNA and analyze it in four or five days,” Dr. Khokha said. “This has totally transformed what we do and provided an extraordinary opportunity to investigate why children have birth defects.”

“The availability of rWGS is a game-changer for children of the region,” said Patrick Gallagher, MD, YNHCH neonatologist. “Diseases can be diagnosed and patient-specific treatment plans instituted with speed and accuracy that were never before possible.”

The approach of taking scientific research to a genetic level, then partnering with patients and their providers to determine treatment sets Yale New Haven Children’s Hospital apart, Dr. Khokha said.

“The plan to study the genes and feed our findings back to the patients and their providers is really at the intersection of research and clinical science,” he said. “That’s very different from programs at other organizations.”

YNHCH patients who undergo rWGS are eligible to participate in the Pediatric Genomics Discovery Program, a joint program of the children’s hospital and Yale School of Medicine that can show participants why they have particular conditions.