HELSINKI — Elm Genomics, a Turkish molecular diagnostics startup, recently launched an exome-sequencing-based newborn screening panel in its domestic market, with an eye to making it available internationally.
CEO and Cofounder İbrahim Çağrı Kurt discussed the new test during a presentation at Slush, an annual startup conference held here this week. According to Kurt, its debut offering, called the Genopix Comprehensive Newborn DNA Screening Test, is just the first of what could become a suite of tests for various genetic diseases.
Kurt said in an interview following his talk that Elm is currently developing an online platform for customers to get the most value out of their DNA. Using such a platform, customers can focus on the most relevant information based on their age, he said. "While information about cystic fibrosis or glycogen storage diseases is more relevant for a newborn, polygenic diseases such as Alzheimer's, Parkinson's, and diabetes would be more relevant for middle to high-aged individuals," he explained.
Kurt said that Elm is trying as a company to position itself in the market by building a platform where it "becomes a lifetime companion," Kurt said, "so that once you have your DNA sequenced, you'll get lifetime value out of it."
Kurt was until 2021 a PhD student at Harvard working in the field of genome and epigenome editing. He returned to Istanbul last year and cofounded Elm Genomics. Elm earlier this year took part in an accelerator program organized by EIT Health that is supported by Roche and the EU. The company is funded currently by private investors.
According to Kurt, Elm would like to see its Genopix test adopted as complementary to the standard blood-based heel-prick tests currently administered to newborns, which he described in his talk as an invasive, incomprehensive, and dated technology.
While such tests have their "own value and parameters and will continue saving many lives," Kurt said that DNA screening will "add an extra safety net" for the diseases that are already screened and will enable screening for many other conditions that are otherwise missed by conventional methods.
The company is also trying to combat what he called genetic unawareness by couples who conceive without knowing their carrier status. "Genetic unawareness is like a ghost moving around in society," he said in his talk. "Statistically speaking, we are all carriers of genetic conditions but we are just not aware of it."
But this specter puts both families and health systems under pressure. Elm's business concept has been to develop a test that focuses on 180 diseases and conditions in newborns. He said the company decided to include diseases that were medically actionable as well as childhood onset diseases. The test can be run on a cheek or mouth swab collected from a newborn, and then sent for analysis with whole-exome sequencing that is run using any kind of short sequencing platform, such as on instruments sold by Illumina or BGI. Elm has partnered with multiple genetic diagnostic centers in Turkey, including in the capital Ankara, that serve regional healthcare systems.
The diseases that Elm screens for run the gamut from childhood cancers to neurological conditions to skeletal disorders. Kurt described cases involving Segawa syndrome as well as antibiotic-induced hearing loss. In the case of the latter, carriers of the MT-RNR1 m.1555A>G variant are predisposed to hearing loss when prescribed gentamicin, an antibiotic given to newborns admitted to intensive care units.
A potential competitor to Elm for that condition, Genedrive, a Manchester, UK-based molecular diagnostics company, has developed a PCR-based, point-of-care offering for testing for the variant in question that is based on a reverse-transcription loop mediated isothermal amplification approach and runs on its CE-IVD -marked portable Genedrive System. The test is currently being assessed by the UK's National Institute for Health and Clinical Excellence.
Kurt acknowledged that there is a tendency to favor testing platforms that are smaller and less expensive, such as PCR, compared to a sequencing instrument, but said that in the future most people will have either a whole or partial genome sequenced and stored. He also said that innovation and competition among vendors could drive down the price of sequencing to the point where it can be competitive with platforms like PCR.
"With a single marker approach you get a niche answer," said Kurt. "We give you all of your 25,000 genes decoded and you can carry that with yourself throughout life" he said.
Newborns screened with the Genopix test, for instance, might mature into adults who need to be prescribed the right antidepressants. "Pharmacogenomics is just one example and there are hundreds," said Kurt.
Currently, Elm is mainly focused on the Turkish market, where there are about 1.5 million births per year. Turkey has a total population of 85 million people. Patients have to pay for the Genopix test out of pocket, which is to be expected, as it is a new offering. The price is typically between €400 ($414) and €500, Kurt said.