NEW YORK (GenomeWeb) – As the Broad Institute looks to move more into the clinical realm, it has tapped Heidi Rehm as clinical laboratory director, a part-time role she will serve while still maintaining her position as director of the Laboratory of Molecular Medicine at Partners Healthcare.
In addition, Ozge Ceyhan-Birsoy, a fellow at LMM, will also join the Broad part time as assistant director of its Clinical Research Sequencing Platform (CRSP).
Rehm told GenomeWeb that the two will help determine which "types of tests are most useful in a clinical perspective, appropriately validate those tests for clinical use," and work with the Broad to "develop a vision and strategic plan for the clinical lab."
The Broad Institute established its CLIA-certified CRSP in 2013 and currently offers exome sequencing within a CLIA environment. The validated pipeline includes sequencing on the Illumina HiSeq 2500, and when it launched the lab had the capacity to sequence around 100 exomes per week. Turnaround time for one exome is three weeks, but that just includes delivery of the VCF files, not clinical interpretation.
The primary market for the service has been for larger clinical research studies where the investigators want sequencing done within a CLIA-certified facility, and the Broad has not marketed the test to physicians since it does not do clinical interpretation or generate clinical reports.
Rehm said that LMM has been increasingly working with the Broad, particularly to tap into the larger capacity of its validated exome service. The LMM offers its own suite of NGS-based clinical tests, including a clinical exome, but, said Rehm, the "capacity to scale significantly is not there." As such, she said, LMM can use Broad's clinical exome sequencing service and then do the clinical interpretation in house.
"What we do best at [LMM] is the clinical interpretation," Rehm said, while the Broad excels in technology development. "The two labs are quite synergistic in terms of our strengths and building a joint service will be highly complementary," she said.
For example, she said the labs have already been working together, along with researchers from the Brigham and Women's Hospital and Boston Children's Hospital, on a National Human Genome Research Institute-funded project dubbed BabySeq, which aims to explore the risks and benefits of sequencing newborns. The study plans to enroll 480 newborns and their families, half from Boston's Children's NICU and half from healthy babies born at Brigham and Women's. Researchers will do exome or whole-genome sequencing on the newborns to assess the infants' disease risks.
For that project, the Broad will do much of the sequencing while LMM will do clinical interpretation. "That's exactly the sort of model we want to build off of," she said.
In addition, she said the Broad is working with Dana-Farber Cancer Institute's Levi Garraway, who is heading up CanSeq, a study that aims to establish a framework to sequence tumor exomes of cancer patients and incorporate the findings into patients' management plans. The project is part of the NHGRI's Clinical Sequencing Exploratory Research consortium.
Although the labs plan to work closely together and may co-develop tests, Rehm said that they would likely not merge. "For institutional reasons, they may remain separate, but will work closely together to optimize the best of both," she said.
In terms of future tests that the Broad may offer, she said that those would likely be determined by the need in the clinical research market. "The intent isn't necessarily for the Broad clinical lab to offer a full suite of competitive tests, similar to other clinical labs," she said. But rather, it is "to fulfill a unique niche to support high-throughput clinical research projects and partner with other clinical labs to supply them with the most cutting edge technology solutions."