Epigenetics and the Black Box of Male Infertility

Human beings have always regarded bearing children as one of the most meaningful and fulfilling acts of life, particularly in the last few thousand years. The genuine joy, fear and excitement parents feel for their children make even a cynic like me stand in awe of the role that raising kids plays in both the parents’ life and in society.

Being 28, single, and living in an overpopulated world, my priorities in life are more about my career and living new experiences rather than being focused on building a family and ‘spreading my seed’. Apparently I am not alone in this, and research shows that more and more people prefer to wait to an older age to have their first child; mainly due to secular and socioeconomic pressures.

Another trend is becoming prevalent, which is that this older population of parents are finding it harder to conceive. Though previously thought of as a cause of advanced maternal age, causes of infertility have recently been linked to advanced paternal age as well. In fact, according to the CDC, 7.5% of all sexually experienced men younger than age 45 reported seeing a fertility doctor during their lifetime (3.3–4.7 million men). Of men who sought help, 18% were diagnosed with a male-related infertility problem.

Perhaps the most frightening fact about the problem is that over 25% of these males have unexplainable infertility. They go to infertility clinics, pay large sums of money out of pocket, and make decisions about treatment while not knowing the cause. The good news is that the solution to this giant information gap might be right around the corner.

Episona, a California-based startup, is using the fascinating science behind epigenetics to study male infertility and help people build families. “To understand epigenetics, think of building a house.” explained Alan Horsager, President and CEO of Episona. “If the house, with its many components, is your genome, then the blueprint of the house’s design is what epigenetics is. It is a way for the cells to know which building blocks [genes] to use.

Epi is a latin prefix for the word around or next to. These are a set of rules that determine which genes get expressed or used and which remain dormant. To a large extent, our epigenetics determines who we are, what we look like, and what kind of diseases we may be prone to. They are particularly interesting because they are not only inherited, but also change with age, environment, and behavior.

Episona evaluates an individual’s epigenetic profile to determine if there may be a fertility problem that isn’t picked up by currently available diagnostic tests. Doctors then get a report with a Fertility Score, including a list of genes that are epigenetically abnormal. Doctors can use this information to better counsel their patients and direct them to the best possible treatment.

“We see ourselves essentially as a data company. What we are interested in is studying the relationship between epigenetics and the environment, and asking ourselves how we can predict disease and outcomes”, Alan told me, after explaining that they survey their patients about their general well being and behaviors. It’ll certainly be interesting to see what correlations they can find.

Episona has raised over 1.3 M US Dollars and will provide their services to infertility clinics in the US and Canada later this year.  Their studies and trials have shown that their predictive models proved to be highly accurate in classifying male fertility status (fertile or infertile), with 82% sensitivity, and 99% positive predictive value.

“The alternative right now is that these people who don’t understand the underlying developmental causes of their infertility choose between In-Vitro Fertilization, which costs about $15k and has 30% success rates, or Intra Uterine Insemination which costs $2k with about 15% success”, Alan explained, stressing the giant potential of these technologies.

Epigenetics is also being applied on a wider range of medical issues and lifestyles, and is opening up a world of options such as this study about the correlation between obesity and spermatozoa epigenetics. Companies like Episona allow us to peek into the blueprint of our bodies and essentially redesign what is necessary.


Omar is a physician, writer and data analyst. After realizing the potential of exponential technologies to reshape the inefficiencies of healthcare, he left medicine and moved to San Francisco to immerse himself within the network of entrepreneurs in Silicon Valley, while working on technology projects of his own. Omar frequently writes for Health 2.0 News while consulting major organizations with the Healthcare Practice of Clarity Solution Group. View all posts by OMAR SHAKER →

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