NEW YORK – Bionano Genomics said this week that it is in the process of launching five key studies to generate data that could sway medical organizations to endorse optical genome mapping technology as a diagnostic tool.
"There are fundamentally five studies, organized in four pillars," that will compare optical genome mapping side by side with traditional methods of genetic analysis already endorsed in medical guidelines, such as karyotyping and fluorescence in situ hybridization, Bionano CEO Erik Holmlin told investors on a conference call Thursday following the release of the firm's first quarter financial results.
The "pillars" are pre- and postnatal genetic analysis, hematologic malignancies, and solid tumors, he said, and the hematologic malignancies study has a leukemia and a lymphoma arm. The company's plan is to enroll 1,000 patients in each of those five areas across multiple participating sites, at least three per study, he noted.
The postnatal genetics study is already underway, and the firm expects to start generating data from the prenatal and hematological oncology studies by the end of the year, said Alka Chaubey, Bionano's chief medical officer. "Institutional review board approval has been obtained for all of the sites in our postnatal genome analysis study, and site recruitment and training is complete," she said, adding that enrollment is ongoing and that three sites have begun to generate data.
"Although a program of this scale is often [done] later in the development process, because of the capital we have available, we can pursue it now and accelerate the path to medical society consideration of optical genome mapping," Chaubey said.
The studies come in the wake of several reports of results over the last year from customer studies using Saphyr genome mapping to replace Southern blotting, karyotyping, FISH, and multiplex ligation-dependent probe amplification, among other methods.
Bionano Genomics did not say if the five studies were entirely new efforts or if they would be continuations of existing studies and did not specify how much money it would be investing in them. The firm did not immediately respond to follow-up questions about the studies.
"There are some sites where there are sponsored research activities," Holmlin said, but noted that other sites are existing customers who will be purchasing reagents that could generate revenue. "It's a lot of patients, it's a lot of time, it's a lot of sites, it's a lot of Saphyr systems," he said, but the firm thinks it will take data from 1,000 patients in order to influence medical guidelines.
Holmlin said that the postnatal genetics study could have about a third to half of samples analyzed by the end of the year and that he expects researchers to disclose results before the study is completed.
The studies could also spur customers to validate their assays and help support further adoption at their home institutions, he said. For example, he expects several European customers to get assays for acute leukemias and facioscapulohumeral muscular dystrophy, or FSHD, accredited by the relevant authorities during the second quarter. However, he did not say which customers and how they would be accredited; Bionano did not immediately respond to a request for more information on these assays.
Holmlin also provided an update on the firm's efforts to develop a higher-throughput Saphyr instrument. While the firm said in March that it plans to have a prototype out this year, the instrument would be completed by the end of 2023, he said. The firm wants the improvements to allow customers to process genomes at $100 per sample.
Bionano CFO Christopher Stewart noted that the firm has begun converting reagent rental agreements into instrument sales, which is one reason the firm does not split out its placements into sales versus rentals. "They end up crossing over at times," he said.