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Spanish Startup Aims to Develop Novel Genomic Tests to Guide Breast Cancer Treatment

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NEW YORK – Reveal Genomics is a newly formed company with a lofty goal: to translate years of experience in the cancer clinic into genomic tests that can be used to guide treatment decisions. Established last month in Barcelona, Reveal plans to have assays available within three years, and is eager to partner with pharmaceutical and diagnostics companies to fulfill its vision.

"This is the culmination of many years of research, and now we are trying to bring our ideas to the clinic through this company," said Aleix Prat, acting CEO of Reveal and head of the medical oncology department at Hospital Clínic Barcelona.

"I feel there is a gap between all the science we've been doing and bringing the actual value to the patient, and Reveal is the way to do that," said Prat. "Through this particular platform, we will be able to develop tests for the clinic which, at the end of the day, is exactly what I want," he said. "I see breast cancer patients, I need to make decisions, and I need tools for that."

Prat cofounded Reveal last month together with Ana Vivancos, a principal investigator in the cancer genome group at Vall D'Hebron Institute of Oncology (VHIO) in Barcelona; Patricia Villagrasa, scientific director of the breast cancer research group at the Barcelona-based Solti Foundation; Charles Perou, a professor of molecular oncology at the University of North Carolina School of Medicine; and Joel Parker, an associate professor of medicine at the same institution.

Perou and Parker previously led the development of algorithms and content related to the PAM50 signature, a breast cancer gene expression assay for formalin-fixed, paraffin-embedded tissue later commercialized by NanoString Technologies as Prosigna. NanoString is just one player that has been cultivating a market for genomic breast cancer tests for years. Agendia, Genomic Health, and Myriad Genetics are also seen as pioneers in the field and will in some ways be competitors. Yet Reveal has something new to offer, according to its cofounders.

"Our work developing PAM50 and Prosigna demonstrated the clinical value of molecular subtype at diagnosis," said Parker in an email. "At the same time, correlative genomics of neoadjuvant trials emphasize the knowledge gained from observing the molecular response to therapy," he said. "Reveal is leveraging these observations toward clinical decisions that we believe will improve patient outcomes."

Perou also spoke highly of the new project. "There are so many diagnostic needs for breast cancer patients that no one test can address them all," he said via email. "Reveal Genomics is working to develop new tools to help guide therapeutic decision making, especially for late-stage patients."

Prat said that the company is designing a diagnostic platform that will take into account not only particular gene expression signatures but clinical data as well before producing a result.

"Definitely over the years we have learned that a combination of variables is needed in precision medicine for breast cancer and, in general, in oncology," said Prat. "We tend to rely on single mutations to make decisions, which is fine, but we need to move beyond single mutations, and here is where our strength is," he said. "We have ways to combine data, not only genomic but clinical data, to go beyond single mutations and alterations. That's our objective."

As it develops its tests, Reveal already has a number of areas of interest in breast cancer, Prat said: hormone receptor-positive, HER2-negative, luminal advanced disease and early-stage, HER2-positive disease. In both cases, he said, there are many therapies available for treatment now, but clinicians just don't have enough data to make informed decisions about what is the best treatment for each patient.

"We know we are overtreating and in some cases undertreating patients," said Prat. "Our tools take into account the power of the whole genome, plus clinical data and other variables" to guide treatment decisions.

Prat said that some of the IP underlying Reveal's tools already exists and will be licensed to the new company from the founders' institutions, while Reveal plans to generate its own IP soon. The company's approach will rely on a variety of methods, including gene expression assays of tumors, as well as DNA-based tumor tests and circulating free DNA for "DNA signatures or recurrent patterns of DNA alterations." Sample sources will also vary, and the firm will analyze both tumor tissue and liquid biopsies, depending on the indication.

There is also a computation aspect to Reveal's test platform that might distinguish it in the field.

"There are many companies doing genomic testing," said Prat, "however, our assays will have sophisticated computational methods [that] none of the existing assays have."

He did not further elaborate but referenced two relevant papers. One, published last December in Nature Communications by Perou's group at UNC School of Medicine, describes a computational approach that relies on genome-wide association analysis and Elastic Net prediction to predict gene signature levels in breast cancer tumors, as well as phenotypes, such as different molecular subtypes and mutations. Those predictions could be used to guide therapeutic decision making. The second paper, appearing last month in Clinical Cancer Research with Prat as the lead author, discusses a model for predicting prognosis in HR+/HER2-negative metastatic breast cancer using data that include two PAM50 subtypes, a basal signature, 14 genes, and four clinical variables.

Reveal is now focused on translating these and other scientific advancements into products. Prat noted the company was established with a seed investment of roughly €500,000 (about $590,000) and may raise a similar amount of seed funding before it looks to close a larger round of funding. Reveal is also looking to hire a full-time CEO, he said.

Prat acknowledged that building any kind of genomics diagnostics enterprise is a long, hard slog. Yet within the next three years, Reveal should make its first assays for breast cancer available as laboratory-developed tests. "Our first objective is to get the tool out commercially," he said.

The tests will most likely be offered via VHIO's lab in Barcelona. Following their introduction, Reveal will need to validate the assays and, at that time, look for partners to take the effort further.

"This is when we will be most open to partnerships, when we can show it might be a companion diagnostic in different settings in clinical trials and also collaborate with companies," he said.

He noted, as well, that Reveal's plans are not limited to one cancer indication, but given the background of its founders, breast cancer was the most immediate choice. "It's possible some of the tools we develop might be applicable to other cancer types," he said, "but for now, it's breast cancer."

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