Two important trends are changing the fertility medicine landscape.
The first is the overall rise in couples trying unsuccessfully to conceive due to advanced age, obesity, and various environmental and lifestyle factors. According to a Harris Williams & Co industry overview report, these variables are contributing to a global fertility market now worth $30-40 billion per year.
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The second is the growing recognition that this is not a women’s health problem. Around 12 million (15%) U.S., couples are involuntarily infertile. For around one in five couples, a male factor is diagnosed as the cause. A further 30 percent of cases are deemed both male and female, or unexplained.
This underrecognized and underserved portion of the market is in the crosshairs of Pasadena, California startup Episona, a company founded around epigenetic science. Its first product, Seed, launched in mid-October and is now being sold to fertility clinics nationwide.
Seed is a next-generation sequencing test that looks for specific signs of DNA methylation in sperm. This could be the result of aging, smoking, pollution and more. Depending on how and where this occurs, the DNA modifications can impact fertility and embryo development.
The question is: can anything be done with the information?
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Episona President and CEO Alan Horsager said Seed can be a valuable tool for counseling couples, setting expectations and guiding fertility treatments.
In a phone interview, Horsager gave the example of a couple that had undergone three rounds of intrauterine insemination (IUI), essentially injecting sperm directly into the woman’s uterus. After the third unsuccessful attempt, the couple paused to have the man’s sperm tested for epigenetic changes. The results showed his sperm had DNA changes related to chemotaxis – how the sperm senses its surroundings and navigates towards the egg. For the couple’s next attempt, the sperm was injected directly into the egg, leading to successful conception.
Horsager cautioned that a breakthrough resolution is not the norm for patients diagnosed with epigenetic changes related to fertility. In a variety of other scenarios, the value comes through setting expectations for the length of time it may take to get pregnant, or whether a sperm donor might be needed.
Horsager says the situation can be particularly difficult for couples who can conceive, but not complete, IVF, due to epigenetic changes in the sperm that affect early development.
“It’s pretty disheartening, obviously, for couples and it’s frustrating for the physician, so you want to understand why. This is a tool that can be used to understand if there’s a male factor driving it,” Horsager said. “In those cases, it really is a good counseling tool to let you know for this couple it’s going to take a little longer to get pregnant.”
In certain scenarios, it may also be possible to reverse the epigenetic changes. Horsager says an individual’s results will typically remain relatively stable week-to-week. Over the years, the DNA methylation is likely to get progressively worse as the sperm ages and the individual’s lifestyle takes a toll.
But it can be undone. Horsager said the data suggest that significant changes to lifestyle and wellbeing can undo a lot of the damage. This has been observed with everything from smoking cessation, to gastric bypass, to correction of a folate deficiency – which is important for both men and women.
“It’s a pretty concrete form of counseling that can be used,” Horsager said.
Ideally, Seed would be offered as a first-line diagnostic before couples commit to costly fertility treatments. But as with most diagnostics in this space, Horsager said Episona’s test is not covered by insurance. Patients must pay the $895 cost out-of-pocket, on top of the usual battery of tests.
As a result, the basic male fertility tests are likely to reign supreme for some time. These well-established tests analyze both semen and sperm, looking for characteristics such as count, shape, and movement.
In some instances, that’s all that’s needed to diagnose fertility issues. However, studies have found that around 15 percent of infertile men have normal semen and plenty of normal sperm, which hides an underlying problem.
Meanwhile, the battle for shared responsibility has significant work to do. According to the Centers for Disease Control and Prevention (CDC), infertility is defined as not being able to get pregnant after one year of unprotected sex. It then recommends:
“Women who do not have regular menstrual cycles, or are older than 35 years and have not conceived during a 6-month period of trying, should consider making an appointment with a reproductive endocrinologist—an infertility specialist.”
Given our current knowledge, it seems men should be showing up for testing too.
Photo: LoveTheWind, Getty Images