More than meets the eye: epigenetic testing for male fertility

Semen analysis is often the first test recommended by doctors to access a man’s fertility. But sometimes, even if the semen analysis comes back normal, there are molecular issues with sperm that can reduce your chances of conception or hinder development of embyros. It can help better diagnose unexplained infertility or better inform success rates for IVF.

lab test male fertility

Fertility assessments for men have historically been rather limited. We are all familiar with the iconic plastic cup for collecting a sample for semen analysis which has been the mainstay of the male fertility assessment for over 100 years.

However, modern science is opening new doors. We can now measure sperm on a molecular level giving us greater insight into a man’s fertility and helping doctors create a more personalized approach to treatment. Epigenetic testing helps reveal specific markers in a sperm’s epigenome that have been associated with infertility, poor IVF outcomes, and early development of embryos.

How is male fertility tested?

When you think about male fertility, what comes to mind? Sperm count is likely the first thing; Does a man simply have enough sperm? Then, you might think about motility (can the sperm move?) and morphology (does it have a normal shape?).

When male infertility is a concern, doctors generally only check that a man has sperm, and that the sperm can move normally. This is the information you get from a semen analysis which is the standard first step for evaluating a man’s fertility.

Just having sperm isn’t enough. Sperm needs the ability to reach the egg, fertilize the egg, and provide DNA that will help an embryo develop normally.

It makes sense that we look at these things first, because they affect the first step in reproduction. The man provides sperm to fertilize a woman’s egg. However, while a man’s physical role in reproduction is finished after intercourse, biologically there is a lot more at play. Just having sperm isn’t enough. Sperm need the ability to reach the egg, fertilize the egg, and provide DNA that will help an embryo develop normally.

Problems with a man’s fertility could happen at any of these important stages, but current tests and treatments only focus on getting the sperm to the egg. A growing need to dig deeper into male fertility has been recognized and one way to do that is to look at sperm epigenetics.

What do epigenetic tests measure?

Epigenetics studies factors that enable genes embedded in your DNA to be expressed in cells. Interestingly, while your DNA is set in stone at conception, your body’s ability to access and use your DNA is not. External factors such as age, environment, diseases, diet and exercise can impact your specific epigenetic processes that enable your cells to utilize information encoded in your DNA. Researchers have found specific epigenetic markers on sperm associated with proper sperm function and early embryo development.

When should I consider requesting an epigenetic sperm screening test from my doctor?

There are several situations where an epigenetic sperm test could positively impact your infertility treatment outcomes.

You have “unexplained” infertility: Your semen analysis and all the tests on your partner’s side have come back “normal.” Yet you are still unable to conceive. There could be something going on with sperm that is not detected by the semen analysis. Looking more at sperm at the molecular level may give new insights as to what is at the root of your fertility struggle.

You are considering IVF: In addition to problems with semen parameters, abnormal DNA methylation in sperm has been associated with poor IVF outcome, suggesting that sperm methylation marks affect early embryogenesis.

At Episona, we use this information to help you make informed decisions about how your sperm may contribute to embryo development, before you undergo IVF. Treating infertility can be a long, stressful, and expensive process. Our first product, Seed, can help by giving you and your doctor the information to personalize treatment for your case.

You have negative lifestyle factors: Some risk factors include smoking, age, BMI and exposure to environmental toxins. These are all factors that can cause abnormalities in your DNA linked to infertility. If you do, you should consider getting a semen analysis and an epigenetic test done to see where you stand and talk to your doctor about next steps to take.

Episona’s Seed Test

As a researcher, I recognized a need for greater information on the male side of fertility treatment and I knew that epigentics could offer new answers. I founded a company,  Episona, to develop an epigenetic male fertility test. Our test, called Seed, looks at abnormalities with individual genes in your DNA and gives you more specific information about what is happening with your case.

Seed looks at the differences in methylation between known fertile sperm DNA and infertile sperm DNA. This abnormal methylation can be seen even when semen parameters (i.e. count, morphology, motility) appear normal. This means that using Seed along with a semen analysis can help provide deeper information into male fertility than a semen analysis alone.

If you’re interested in learning how you can take the Seed test, visit us at Seed must be ordered by a doctor, but it’s quick and easy to do. Talk to your doctor to see if Seed is right for your case.