Munich Scientists Design New Myeloid Malignancy Panel with RainDance Tech
Scientists at a leading reference diagnostic laboratory in Germany have developed a panel of genes linked to myeloid malignancies for use with RainDance’s targeted sequencing technology
Prof. Dr. Dr. Torsten Haferlach is CEO of MLL, a central reference laboratory providing diagnostic services for physicians in Germany that processes some 50,000 samples — mostly leukemias, myelodysplastic syndromes, and myeloproliferative neoplasms — each year. Three years ago, the institution adopted next-generation sequencing technologies to help keep up with demand to screen for molecular mutations; today, MLL is one of the largest 454 sequencing labs in Europe with seven instruments in accredited routine operations, and it has added two Illumina MiSeq instruments to its facility since the end of 2011.
According to Dr. Alexander Kohlmann, Laboratory Director for Next-Generation Sequencing at MLL, “The field is evolving to a situation where we’re no longer sequencing single genes but rather panels of genes.” Part of his job is to ensure that the laboratory can keep up with burgeoning demand from its customers. “Doctors are asking for information about many genes in parallel. They want the results for all these markers at the same time and not step by step,” he says, expecting a turn-around time of five to six days from sample receipt to sending out a report.
With that in mind, MLL has been developing a panel of genes linked to myeloid malignancies for research use on the RainDance Technologies targeted sequencing platform, starting with the RDT 1000 and more recently adding the higher-throughput ThunderStorm® instrument released this year.
The panel, which will be commercially available to other RainDance customers, consists of more than 25 genes. Haferlach and his team are targeting genes in which mutations are known to be medically actionable today based on information from scientific publications. “We developed the myeloid panel for research use in those malignancies where a lot of genes are already being requested today or where we see an unmet need to test these genes at a high level of sensitivity and throughput, providing actionable prognostic information to clinicians suitable to guide therapy in the near future,” Haferlach says.
One of the reasons they chose the RainDance platform after evaluating other options was the inherent flexibility of the system. “Whenever there’s a new gene published, we can make an iteration of the library to add the new gene or new hotspot region within a four-week time frame,” Kohlmann says. “We are constantly trying to keep up with the literature, and this flexibility allows us to be cutting-edge. That’s one of the clear advantages that we see with this platform.”
That flexibility is particularly important in the field of myeloid malignancies, where scientific understanding of these disorders has improved significantly in a short period of time. “There have been groundbreaking discoveries made in myeloid malignancies in the past year,” Haferlach says, noting the recent linkage of genes to these malignancies as well as new information about their pathogenesis. The myeloid panel developed at MLL was a way to “best capture what is known today,” he says.
Aside from flexibility, the targeted sequencing platform met other criteria for the MLL team. While the RainDance instruments are currently being used for research purposes at the lab, Kohlmann’s team sees it as a benefit that the platform already meets the standards they consider for technology that could ultimately wind up in a clinical setting. The minimal hands-on time for the RainDance instruments, the small amount of sample required, and the homogeneous performance of the targeted amplicons made the platform a natural fit for the MLL next-generation sequencing diagnostics group.
The MLL team has already completed one research study with the myeloid panel, and plans are underway to develop a separate lymphoid panel. In addition, validation tests on the RainDance platform are ongoing to ensure that the myeloid panel is functioning as expected and to prepare for the eventual transition to using the instruments in a clinical setting.
— Meredith Salisbury