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June 15, 2016 (Vol. 36, No. 12)

Decoding the Genetics of Infertility

Celmatix Aims to Improve Fertility Counseling through Genetic Testing and Big Data Analytics

  • Click Image To Enlarge +
    Celmatix scientists prepare patient samples for next-generation sequencing. (Left: chief clinical laboratory officer Daniel Farkas, Ph.D.; right: founder and CEO Piraye Yurttas Beim, Ph.D.) Anthony Miller

    Celmatix is decoding the genetic basis of infertility. Through launching the Personalized Reproductive Medicine (PReM) Initiative and a recently announced collaboration with 23andMe, the company is shifting the diagnosis of infertility from broad phenotypes to root causes.

    Currently, no comprehensive tests are available to reveal the genetic drivers of infertility. “This capability exists for cancer diagnoses, but not for infertility,” says Piraye Yurttas Beim, Ph.D., Celmatix’ founder and CEO. Therefore, Celmatix is developing a genetic test that will identify subclinical, genetic causes of infertility.

    The work is grounded in years of research with America’s leading fertility specialists. “We’ve learned that more than 25% of the human genome is linked to fertility potential,” notes Dr. Beim. “That means more than 6,000 things must go right on a molecular level for reproduction to occur smoothly.”

    “We’ve also found that only a few hundred of these factors seem to be commonly altered in patients struggling to conceive,” she continues. “These alterations occur in any of 25 key biological processes.” According to Dr. Beim, a genetic lens could help resolve these processes, which include immune system function and biological pathways related to metabolism. If problems were to arise with these processes in patients, it might be possible, Dr. Beim suggests, for clinicians to shift diagnostic analyses from phenotypes and toward root causes.

    “Couples often hear that age is a primary factor in infertility, ” states Dr. Beim. “For example, hormone metrics often are viewed through the lens of age. Accordingly 30-year-old patients may be told they have the ovaries of a 40-year-old woman because of their hormone levels. In the era of big data and genomics, we can do better than that.”

    Celmatix aims to improve counseling by giving fertility experts and doctors new tools—data analytics software and a genetic test that detects mutations that can affect fertililty. When the test is commercialized, rather than telling a patient she has recurrent pregnancy loss or polycystic ovarian syndrome, for example, physicians can explore whether her fertility problems might emanate from her body’s unique way of metabolizing fats into hormones, for example. This kind of information could revolutionize not only how patients are counseled but also how they are treated.

    Most of Celmatix’ research focuses on developing genetic tests to guide physicians’ treatment decisions. The 23andMe collaboration gives Celmatix access to fertility data from more than 200,000 people. “We’re optimistic,” says Dr. Beim, “that this collaboration will contribute additional points of validation for our findings, lead to novel insights, and increase awareness that fertility potential has a strong genetic component.”

    Celmatix’ first product on the market, Polaris, is a real-time predictive analytics engine that draws from a proprietary dataset of more than 500,000 cycles of fertility treatments. Using its expansive infertility database, it calculates the odds of a live birth resulting from different treatment journeys including ones that involve in vitro fertilization. Consequently, physicians can access real-world data that matches a patient’s own particular profile and thereby more accurately predict the outcomes of particular courses of treatment and how those outcomes change over time.

    Although the medical literature correlates outcomes to such single data points as hormone levels, “Polaris brings everything together at once so physicians can consider every relevant data point in a person’s fertility history, rather than a limited number of biomarkers,” Dr. Beim points out.

    Patients have a direct benefit. “At one of our network centers, we observed that 25% of infertility patients who would benefit from treatment discontinued prematurely,” recalls Dr. Beim. “We also saw that access to insurance coverage for infertility care was not one of the top predictors of premature discontinuation. Rather, emotional events such as a pregnancy loss dramatically increased the likelihood of a patient discontinuing treatment.”

    Data-driven information, however, helps patients make informed decisions. They understand the chances of success and what it takes to achieve it, and they can choose the treatments that are most likely to benefit them. “This clarity has been game-changing,” insists Dr. Beim.

  • Data Confers Advantages

    When Dr. Beim founded Celmatix in 2009, prevailing wisdom said healthcare was so heavily regulated that it would be extremely difficult for even a disruptive technology company to gain traction. Dr. Beim, however, had a different view. And she suggests that others may want to adopt it.

    “If I were a pharmaceutical CEO, I would be paying very close attention to what’s happening in the technology space,” she advises. “Having insight into the genomic causes of infertility (which also is a risk factor for cancer, cardiovascular disease, and other health issues) could help drug designers develop smarter therapeutics and run more cost-effective clinical trials.”

    Polaris’ combination of big data and an analytics engine produces a competitive advantage for practicing physicians by enhancing the predictability of fertility treatments and, therefore, reduces the emotional toll on patients. The digital aspect of Polaris streamlines consultations, too. “Fertility specialists can review patient data before the appointment to ask more relevant questions and correct any misreported data directly on the platform,” asserts Dr. Beim.

    Just as importantly, Polaris can help identify patients who are serious about treatment. “Since the first infertility center went live with our platform last year, patient no-shows at that clinic have dropped from 20% to less than 2%,” she reports. Because Polaris is digital, physicians know days in advance whether patients have completed their intake documentation. “If the patients haven’t submitted their information, the clinic can reschedule the appointment and move more committed patients on their waiting list forward in the schedule.”

  • Upcoming Milestones

    Celmatix’ immediate goal is to get its genetic test into physicians’ hands. Infertility clinics are the primary market. “Our platform is poised to help onboard and counsel 10% of infertility patients in the U.S. this year,” she declares.

    Obstetricians and gynecologists constitute the next market. Most of the women who talk with their ObGyn never proceed to reproductive specialists, notes Dr. Beim. Accessing Polaris will enable these physicians to perform screenings for the early identification of patients likely to experience premature declines in their ovarian function, and to make more informed diagnoses.

    Intuitively, the intersection of genomics and big data significantly improves infertility treatments. The extent of this anticipated improvement is measured not just in pregnancies but in live births.

  • Celmatix

    Location: 14 Wall Street, Suite 16D, New York, NY 10005
     
    Phone: (646) 389-0245
     
     
    Principal: Piraye Yurttas Beim, Ph.D., Founder and CEO
     
    Number of Employees: 58
     
    Focus: Celmatix is a personalized medicine company that uses big data analytics and genomics to optimize the treatment of infertility and pave the way for proactive fertility management.

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