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South African Startup BioCertica Adds Polygenic Risk Scores to Consumer DNA Tests, Plans to Expand


NEW YORK – South African genetic testing startup BioCertica is in the process of expanding while going through a seed funding round, and has recently launched direct-to-consumer (DTC) polygenic risk score (PRS)-based DNA tests.

The company's current tests cover a range of health-related conditions including obesity, cardiovascular disease, and gluten sensitivity, as well as ancestry testing.

The firm, which launched in the summer of 2020 and raised $650,000 in a pre-seed funding round in May of last year, aims to further expand its list of PRS-based commercial offerings over the course of this year. These will include tests for the risk of immunological, endocrine, metabolic, and neurodegenerative disorders, as well as for COVID-19 susceptibility and several cancers, according to CEO Gert van Wyk.

While other DTC genetic testing companies exist in South Africa, such as DNAlysis, BioCertica appears to be the only one offering PRS-based tests.

BioCertica is in the midst of raising a $1.6 million seed funding round, van Wyk said, the proceeds of which will help it to expand its distribution network and sales force, and to launch genetic tests in its pipeline. "We're actively expanding," he said, "and we've got about 20 percent of that round already secured."

The company's tests include access to a mobile app that tells users where they fall in terms of relative risk based on the PRS in question and where their risk falls relative to other BioCertica test users.

For a weight management PRS test that tells users their genetic predisposition of becoming overweight, they also receive nutritional recommendations such as foods that contain particular vitamins and suggested meal portion sizes.

The scientific community is not settled on the degree to which PRS can provide meaningful information on health-related outcomes, though, and has been skeptical about genetics-based nutritional advice, which currently lacks firm scientific evidence.

A study in Québec of whether PRS could be used to stratify obesity according to individuals' genetic backgrounds, for instance, determined that PRS could explain only between 1.2 percent and 7.5 percent of the variance in body mass index of 881 people.

Acknowledging that limitation and providing some insight into BioCertica's business model, Edin Hamzic, the firm's chief scientific and information officer, said that "we believe that [PRS] are really valuable information that need to be one part of the full puzzle for practitioners."

The firm encourages customers to bring their test results to their doctors and makes patient PRS data available to physicians through an online platform called Practitioners Portal, which it launched this week.

"Our business model is structured on the fact that if a doctor wants to have these disease screening reports, you can unlock them online," van Wyk said.

Several medical experts questioned the value of these test results for patient management, but also said that they wouldn't discount the data out of hand.

"If someone came in with [genetic] results showing an increased risk for obesity, heart disease, mental illness, etc., this would be a talking point to discuss risk reduction in other ways," said Vanessa Olsen, an obstetrician and gynecologist with Kaiser Permanente, adding that such data is unlikely to get in the way of patient care.

Jonathan Moseley, a professor of clinical pharmacology at Vanderbilt University Medical Center, agreed with the potential benefit of having a conversation with one's physician that might otherwise not happen, but cautioned that a potential downside also exists. "I worry it could prompt testing or other evaluations that are apt to just lead to costs, but no benefit to the patient," he said in an email.

Van Wyk acknowledged this concern, arguing that the cost difference between BioCertica's tests and the more focused ones that might be ordered based on their results is "negligible," and that there is value to simply having those test results available.

He also suggested that someone with a family history of disease, for example a family member who developed cancer, might want to assess their genetic risk with a test from BioCertica. The firm plans to roll out cancer tests later this year, he added.

Indeed, the use of PRS in estimating cancer risk is becoming more widely accepted, with large studies such as the Million Veterans Study finding PRS related to prostate cancer and Myriad Genetics including PRS in its breast cancer test.

With any PRS, a challenge exists in how scores are reported to patients, particularly regarding the difference between relative and absolute risk. Relative risk compares an individual's score to a population average, whereas absolute risk seeks to measure the likelihood of someone acquiring an illness. These two values can differ significantly, with a large relative risk sometimes translating to a very small absolute risk.

"Currently, we do not provide an absolute risk score," Hamzic said, adding that BioCertica is developing its products iteratively and in phases. "Our long-term goal is to expand and improve the current PRS offering as we go."

Another issue with PRS is the underrepresentation of people with non-European genetic backgrounds in genome-wide association studies (GWAS), which may be particularly relevant for a company like BioCertica that serves customers in Africa. For example, individuals of African ancestry currently account for an estimated 2.4 percent of records in the NHGRI-EBI GWAS Catalog, one of the most complete records of published GWAS to date.

BioCertica maintains that it uses the most diverse datasets available, obtaining its PRS from the PGS Catalogue, a database of peer-reviewed polygenic scores curated by the University of Cambridge, where each PRS links to the studies in which they were published. Metadata specific to each PRS in the database, including ancestry composition for the populations used to build and validate each score, can be accessed programmatically through the resource's REST API.

Furthermore, Hamzic commented that BioCertica is building its own database from user information, which will contain both phenotypic and genotype information specific for South Africa. "That can be used for building our own PRS scores in the future," he said.

BioCertica's tests are currently marketed to South Africa's middle class, although van Wyk said he expects to be able to make them more affordable to lower-income people as the company scales up. The kits currently cost 2,399 rand ($157).

South Africa's middle class remains predominantly White, with Black South Africans comprising roughly a quarter. Black South Africans, along with people of Indian and Asian descent, and others make up slightly under half of the middle class.

Van Wyk estimated that the firm has sold roughly 2,500 tests in South Africa within a 20-month period, "but we didn't want to sell [them] too fast because there were scalability issues that we needed to sort out," and because the firm wanted to be able to respond to user feedback.

According to the company's website, all samples are tested by the Central Analytics Facilities (CAF) DNA Sequencing Unit at the University of Stellenbosch. Testing is currently done on a Thermo Fisher PMDA Plus microarray, although the firm is exploring next-generation sequencing solutions.

The lab is not currently accredited but is working toward meeting ISO standard 17025:2017, specifying general requirements for competence, impartiality, and consistent lab operations. Although the firm did not have an estimate of when accreditation might come, van Wyk argued that the issue is not a problem within South Africa's current regulatory framework and that BioCertica has an internal quality control program in place.

Through its Practitioners Portal, BioCertica also maintains a network of clinicians that it plans to increase over the coming year. It has an accreditation process in place for bringing practitioners into this network, meant to ensure that they know how to interpret and communicate PRS.

The company makes no money from consultation sessions conducted by its in-network clinicians but does charge a data handling fee, paid by the requesting party, which is usually a physician.

BioCertica also has a test reselling agreement in place for those practitioners wishing to sell the company's products. In-network physicians can purchase tests at a "practitioner's rate" and resell them at their own price.

"It is important to note that we do not set the reselling price," van Wyk said. "However, we do indicate a recommended retail price, in keeping with the Health Care Professions Council of South Africa guidelines."