NEW YORK (GenomeWeb) – Celmatix has launched a genetic screen for fertility called Fertilome, which it will perform at its CLIA-certified laboratory based in New York.
Fertilome is a blood-based test that analyzes the patient's DNA for 49 variants noted in the literature to correspond with conditions that affect women's reproductive health, such as endometriosis or polycystic ovarian syndrome. Scientists at Celmatix's lab run patient samples on an Illumina MiSeqDx instrument to detect the variants. The reports are sent back to physicians, who then consult with their patients on the best plan of action based on the results.
The test offers patients genetic-level insights into their fertility and could aid in their decision making, Celmatix CEO and Founder Piraye Yurttas Beim said in an interview. For example, if a woman has a high risk of recurrent pregnancy loss based on her genetics and is planning to freeze her eggs, she may elect to put away more eggs than average, she said.
Celmatix is a New York-based, personalized medicine company focused on fertility and women's health. Since it was founded in 2009, the company's research team has been looking through and annotating the scientific literature linking genes to fertility conditions, Yurttas Beim said.
When Yurttas Beim founded the company, she had just become aware of the dearth of information available to women about their own fertility. The primary metric to determine whether a woman needed to consider fertility treatment was age, but that is a pretty limited metric, she said. There are many other factors, such as early-onset menopause or disease risk, that may determine an earlier need for fertility intervention than age alone.
The Fertilome is the result of almost a decade of working through scientific data. Yurttas Beim and her colleagues did a systematic literature review of all the genetics to date related to fertility and came up with over 1.1 million annotations, all of which are part of the company's internal database.
But the company wanted to collect clinical data as well, Yurttas Beim said. To do that, she and her colleagues developed a cloud-based, HIPAA-compliant software called Polaris. The software is powered by a clinical database that contains de-identified data from over 650,000 fertility treatment cycles, which corresponds to approximately 300,000 patients from 14 centers in the US, Yurttas Beim said.
The platform is marketed to fertility clinics and their physicians. It is a tool that helps sift through and organize patient intake data, and allows physicians to have more information when they consult with their patients. Currently, Polaris houses one of the largest fertility outcome datasets in the US, according to Yurttas Beim.
"Polaris' navigator function takes [patient] intake data and other [medical] data and allows physicians to have a customized discussion based on all of the relevant metrics," she said. "It allows clinicians to have a higher quality consultation with their patients."
The company began testing Polaris in fertility clinics and hospitals in 2014 and fully launched the software last year. Since its release on the market, the company has seen 400 percent growth in platform use in fertility clinics, Yurttas Beim said. The platform has been used to collect data from over 29,000 patients at 12 leading clinics in in the US, she added. "These clinics currently see approximately 7 to 8 percent of all fertility patients in the US."
The company also has several active collaborations, one of which is with 23andMe. Starting last year, Celmatix began working with the company to data mine 23andMe's dataset on fertility and to discover biomarkers associated with infertility. "The collaboration is helping take [the company's services] to the next level," Yurttas Beim added.
Celmatix is also part of the Personalized Reproductive Medicine Consortium, a research initiative that leverages big data and genomics to better understand the reproductive challenges faced by millions of people around the world. It has a number of overarching goals, including advocacy for funding on reproductive medical research, vetting existing data, and translating actionable insights into intuitive products.
But a primary challenge for the firm is that there is no insurance mandate for fertility testing, Yurttas Beim noted. "It's not in the Affordable Care Act, [and] most fertility care is out of pocket, unfortunately," she said.
"We are very sensitive to the financial strain that is already a reality for most people with reproductive difficulties. We approached pricing from a place of 'What is the minimum we could charge and still get to sustainability as a company?'" Yurttas Beim said. "As a result, our $1,900 out-of-pocket price point is much lower than the price point we determined through our market research studies that patients would be willing to pay for a multigene panel test like Fertilome."
Celmatix has formally launched its male factor fertility program this year as a research and development initiative. The company plans to expand its current dataset and start product development for products aimed at preconception for men, Yurttas Beim said.
The company also noted that it is planning to open a second clinical laboratory in New Jersey this spring.