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Belgian Firm Launches $1,990 DTC Clinical Exome Test; Focus on Carrier Screening, PGx

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Belgian startup Gentle started offering a direct-to-consumer clinical exome sequencing test last week that focuses on carrier screening for more than 1,700 severe genetic diseases, including risk assessment for a number of adult-onset disorders, as well as pharmacogenomic markers.

"We want to provide a better experience with personal genomics," Peter Schols, Gentle's CEO, told Clinical Sequencing News, "and at the same time, provide better scientific support for some of the results and conclusions you find with other personal genomics companies" that only include a limited number of markers for each disease.

Customers can order the $1,990 test online. The test is available worldwide in countries that allow direct-to-consumer testing and has a turnaround time of about six weeks. After phone counseling with a geneticist who explains details of the test and its possible outcomes, customers need to sign a consent form. They then receive a test kit in the mail and send back a saliva sample. "We put quite a lot of effort into the counseling part and into providing people with the best possible picture of what it could mean to them," Schols said.

A contract laboratory in the US, Otogenetics in Atlanta, sequences the exome in its CLIA-certified laboratory at 50x coverage, using Agilent's exome capture kit and Illumina's HiSeq 2500, and sends the data to Gentle, which analyzes and interprets the results.

However, Gentle plans to switch to CLIA whole-genome sequencing in the near future, possibly before the end of the year, and is in discussions with several providers.

Originally, the company had planned to start out with a clinical whole-genome sequencing test. But in discussions with sequencing providers, it found that exome sequencing would allow it to cut the price by half, while losing only 6 to 7 percent of markers to be analyzed that reside outside the exome. "We think for now, it's a very good trade-off," Schols said, even given that exome sequencing often misses some regions within genes. "Our plan is to offer WGS as soon as we can make an affordable product out of it."

Customers need to obtain their results through a medical doctor, either their own physician or through a teleconference with a medical geneticist provided by Gentle via a company called "Royal Doctors." At the moment, that firm has a single physician, based in Belgium, but Gentle plans to build a network of doctors quickly, including in the US.

After receiving results and counseling from a doctor, customers can browse the information either on a web application or an iPad application provided by Gentle. Schols said the firm "invested heavily" in the software, making it as consumer-friendly as possible. "You will notice that there is a lot more effort being put into communicating and prioritizing conditions [compared to] the competition," he said.

Initially, the test will be mainly targeted at healthy individuals, in particular for pre-conception disease carrier screening, and will compete in this market with companies such as Counsyl. More than 1,600 of the diseases covered by the test fall into the carrier status category, Schols said, including diseases known to be frequent in certain ethnic groups, such as Ashkenazi Jews or French Canadians.

But Gentle's test, which is available to customers aged 18 and older, also assesses a person's risk for late-onset diseases, including breast cancer, colon cancer, aneurysms, heart disease, Alzheimer's, and Parkinson's. In addition, it contains pharmacogenomic markers for drug response, an area Schols said will expand in the future.

Customers can opt out of receiving results in the areas of hereditary cancer, neurological diseases, and other late-onset diseases on a per-disease basis.

They can also request diseases of special interest to them to be included that are not on the test menu, and "if it's possible in any way, we'll try to include it," Schols said. In addition, customers can voluntarily provide information about their own or family medical history, which the company will take into account when it interprets the results.

Genomics variants are interpreted by two in-house geneticists. The analysis pipeline draws on both publicly available databases and private technology the company has licensed, and every variant included in the report is backed by scientific publications. All novel and rare variants are included in the analysis, Schols said, though variants of unknown significance are usually not reported to healthy customers.

The test's focus is on preventive screening, not disease diagnosis, but "if something comes up in the test that needs follow-up, we will send people to medical centers close to them," he said.

Ancestry information is currently not included in the test, but will be added at a later point.

While the firm's analysis pipeline "scales very well" and can handle up to hundreds of whole genomes, Schols said, the bottleneck will be providing counseling.

In terms of the analysis, Gentle's test appears similar to Illumina's TruGenome Predisposition Screen, one of three types of tests the company currently offers through its clinical sequencing service.

While Illumina's test relies not on exome but whole-genome sequencing. performed in its CLIA laboratory, and needs a prescription from a physician, like Gentle's, it is intended to evaluate carrier status and risk for certain adult-onset conditions, and is geared at healthy individuals. According to Illumina's website, its test, which costs $9,500, covers 1,220 single-gene conditions and evaluates variants in 1,600 genes.

Schols, who has a PhD in biology from the University of Leuven, founded Gentle two years ago. In 2006, he founded a software company, Orbicule, that focuses on data protection and data security. Both companies are located in Heverlee, outside of Leuven near the science and medical campus of the university.

Data security is also important for Gentle. Customers' DNA samples are destroyed by the lab after the analysis, and the data are deleted from Gentle's servers when a customer closes his account. Keeping the account active, however, will allow the company to update the results on a regular basis.

Schols said that Gentle will not sell customer data to third parties. "We want to make money on the test – that's the main goal," he said. In the future, customers might be able to share their exome data for scientific studies, but this will be optional.

Medical genetic tests such as Gentle's are not as tightly regulated in Belgium as in some other European countries, Schols said, and no legislation in Belgium "interferes with what we do." However, the firm has taken steps to prepare itself for future legislation, as well as to comply with EU guidelines, for example by requiring pre-test counseling, choosing a CLIA-certified laboratory for the analysis, having a medical doctor involved in communicating the results, and allowing customers to exclude specific results.

Gentle, which currently has seven employees, is privately funded, partly through Orbicule, and has sufficient capital to support it "well into the next year," Schols said.

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