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Arcensus Hopes DTC Testing Will Help Genome Sequencing Become First-Line Rare Disease Diagnostic

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CHICAGO – Arcensus, a direct-to-consumer clinical genetic testing startup, may be based in Germany, but its founder and CEO Arndt Rolfs has his sights firmly set on markets outside Europe.

Initially, the firm is focusing on hereditary cancer and cardiovascular disease risk tests — for those with a family history of such conditions as well as those with early symptoms — with products called myLifeCancer, myLifeHeart, and a combination offering called myLifeDNA. "Everything is paid by the government," Rolfs said of the German healthcare system, so people are not accustomed to dipping into their own pockets for healthcare services. "It is a question of mentality and the innovation-averse healthcare environment in Germany."

While some European countries, including Spain, Denmark, and Poland, are more amenable to direct-to-consumer healthcare services, the majority of markets in the EU are "extremely restrictive" toward companies like Arcensus, according to Rolfs. "Therefore, it is clear that Europe is not our top priority."

Instead, the firm is looking toward the US, the Middle East, and, later, South Asia. Arcensus is interested in Arabic countries, for example, because of their high level of consanguinity that makes more people susceptible to genetic disorders, according to Rolfs.

He said that based on his past work as well as new information created with Arcensus, the company has "extremely detailed epidemiological data from Pakistan and Egypt, and Saudi Arabia."

Rolfs, a professor of neuro-regeneration at the University of Rostock, started Arcensus in December 2020, two months after abruptly stepping down as CEO of Centogene, another company he founded. Centogene also specializes in rare disease diagnostics and research.

Rolfs actually did not take the CEO role at Arcensus until the beginning of this year, replacing Michael Schlenk, who led the company through its launch and remains on the board. Arcensus had 42 employees as of Jan. 31.

The firm has offices in Rostock and Berlin, and now its first US presence in Hoboken, New Jersey. "It's very clear you have to be close to the market to understand what's going on," Rolfs said of the US location. Being in the US also helps the company better manage testing logistics, he added.

Arcensus has ISO 15189 accreditation from the American Association for Laboratory Accreditation for a laboratory in Germany and is seeking CLIA accreditation for its US lab. The firm currently outsources whole-genome sequencing to a German company that Rolfs did not name.

However, Arcensus does not yet have a location in any of the Middle Eastern and South Asian countries it is targeting.

Rolfs has been the sole funder of Arcensus to date, but he said that the company has begun to seek external investors.

His time at Centogene taught him two lessons, he said. "On the one side, there's a huge market for undiagnosed patients, especially with rare hereditary registered diseases," Rolfs said. "On the other side, unfortunately, there is nothing [that has] improved in the last 20 years regarding the early diagnosis of patients."

Rolfs wants WGS to address both problems. "What is really motivating me is to [make] the life of the patient better," he said.

Arcensus seeks to improve diagnostic yield by making genetic testing the first line of testing after identifying a family history of disease rather than the last. "In this way, we identify genetic mutations that are proven to cause diseases and provide you with actionable results. This enables you to take preventive measures as early as possible," according to the firm's website.

The DTC strategy is the result of Rolfs' observation that physicians have been "extremely hesitant" to use genetic testing before exhausting other diagnostic options, even though it can take years for patients with rare hereditary diseases to get a proper diagnosis, and even though some modalities, like MRI and CT, cost far more than sequencing. "There is a clear medical need to change that disaster," Rolfs said.

He said that healthcare systems around the world do not incentivize doctors to start with genomics. "Therefore, the only chance to offer up an improvement in the early diagnosis is offering it as a simple and easy technological solution for [individuals] who have a problem."

Rolfs noted that genetic testing is also far more sensitive and precise than other types of diagnostics, plus it is a once-in-a-lifetime procedure. "There's no need to ever repeat it if it's done in a good technical quality," Rolfs said. "If there are new questions, [you can] go back to the data, reanalyze the data, and send out a further medical report."

In a little more than a year, Arcensus has amassed a database of about 50,000 genomes, which Rolfs said comes mainly from the firm's own research and charity programs in about 15 countries. Rolfs would like to double that total by the end of 2022.

Arcensus sequences genomes, with depths of 30X to 50X, then provides different kinds of analyses for each testing product. Reports suggest follow-up care and lifestyle changes patients can make to reduce risks to their health.

With myLifeHeart, the patient gets a report on 450 genes related to cardiovascular disease, while myLifeCancer includes a report on 1,300 genes associated with cancer. Each one of these products costs €599 ($668) through the Arcensus website, including sample collection, sequencing, and analysis.

The more comprehensive myLifeDNA test, which analyzes both cancer and heart disease-related genes, is priced at €1,099.

The cost of the testing includes a year of quarterly updates to incorporate new medical knowledge on relevant genes. After the first year, a subscription to the updates runs €129.

Patients will have the option of sharing their results with clinicians to aid the diagnostic process. Rolfs said that Arcensus will also sell aggregated data to pharmaceutical companies looking to develop treatments for rare diseases, though the firm has not announced any pharma partners yet.

Arcensus claims in marketing material that its data has achieved a diagnostic yield of 80 percent in "genetically suspect patients," though the company has not published its findings in any peer-reviewed journal. Rolfs said this number combines pathogenic variants, likely pathogenic variants, and variants of unknown significance.

Rolfs said that Arcensus, through its self-developed proprietary, artificial intelligence-driven data analysis, has already identified two new genes related to the development of hypertension, a condition present in about 13 percent of the firm's total cohort, but he would not disclose those genes. He said the firm is going to file patent applications on its technology before it publishes any research.

The analysis technology stratifies phenotypic data before it searches for genetic markers, he said. Arcensus is also generating multiple reference genomes, based on years of work from Rolfs and colleagues, including Gabriela Oprea, chief data officer, to account for different ethnicities, a strategy that Rolfs said differentiates the company from others.

A simple analysis of a genome can produce signatures pointing to each person's ethnic origin. "With that, I immediately choose the best reference genome" from among new ones the firm is creating from Arab and South Asian countries, as well as more common existing references from Europe, North America, and East Asia, interpreting genetic information, Rolfs said.

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