Learn How Your Genetics Can Guide Your Decisions About Your Fertility.

The PhosphorusONE test is the first genetic test that examines genes responsible for various forms of infertility and can help guide decisions on everything from egg freezing to fertility treatments.

How common are infertility issues?

Infertility is a medical condition of the reproductive system that is often diagnosed after a couple has had one year of unprotected, well-timed intercourse, or if the woman has suffered from recurrent miscarriages. If the woman is over 35 years old, it is diagnosed after 6 months of unprotected, well-timed intercourse. According to the CDC, 1 in 8 couples (or 12% of married women) have difficulty getting pregnant or sustaining a pregnancy.

What can genetics tell me about my fertility?

In the past few years, there has been an incredible amount of progress in creating more options for men and women to help preserve or seek treatment for infertility. In particular in vitro fertilization has received more mandates to be covered under insurance in the United States, egg freezing is no longer considered experimental, and more generally, our understanding as to what the underlying causes of failure to conceive or give birth has increased dramatically.

In fact, the most recent research shows that genetic causes underpin at least 10 – 15% of the causes of infertility. Understanding earlier in life whether or not you have a genetic risk factor can help you make a more informed decision as to how, and even when you approach having a child.

What are some genetic causes of infertility?

Below are some of the most well understood genetic causes of infertility:

  • Late-onset Pregnancy Loss: A significant portion of late-onset pregnancy losses are due to a medical issue known as thrombosis (blood clots). Essentially, thrombotic events such as a DVT (which also can be life threatening in other contexts as previously written about here), can lead to spontaneous miscarriages. Blood clotting factor genes such as F2, F5, PROC, and PROS influence whether or not you have a predisposition for this type of pregnancy loss, and your physician can help prevent it from happening: therapeutic blood thinners are able to significantly reduce the risk of thrombosis during pregnancy. 

  • Diminished Ovarian Reserve: Diminished ovarian reserve leads to infertility for about 10% of patients seeking treatment in the form of in vitro fertilization. While ovarian reserve generally declines with age, some patients experience premature ovarian insufficiency – a decline in normal egg production earlier in life. It turns out that about 22% of case of premature ovarian insufficiency can be traced back to genetic origins. Understanding your risk sooner is essential: freezing your eggs earlier in life can make sure that you keep your reproductive options open. While it is not inexpensive to undergo a cycle of egg freezing, companies like KindBody are making egg freezing more accessible and more affordable while big employers are starting to cover egg freezing as a benefit.

  • Chromosomal Abnormalities: Some of us carry chromosomal abnormalities, or large changes in the structure of our DNA. While these do not affect us, they can often prevent us from conceiving healthy embryos. These abnormalities affect both men and women. If you are found to carry an abnormality, often times this means that >50% of the embryos you produce will not be able to carry to term. However, a process during in vitro fertilization known as Preimplantation Genetic Screening (PGS) can help to make sure your embryos have normal chromosomes to help you achieve a healthy pregnancy. 

  • Guide Treatment Decisions for Patients with Polycystic Ovarian Syndrome Trying to Conceive. Polycystic Ovarian Syndrome (PCOS) can make achieving pregnancy challenging. A standard course of in vitro fertilization is often not possible due to PCOS, and alternative drugs must be considered to help induce ovulation. For some cases, genetics can help understand which drugs are more likely to be effective in retrieving eggs. Specifically, genetic forms of insulin-resistance can be understood to know whether or not metformin should be considered for patients with this medical issue.

What does PhosphorusONE look at in regards to infertility?

40 genes are responsible for some of the leading causes of infertility in both men and women causing conditions the conditions mentioned above as well as low sperm count and/or poor sperm quality. Early testing and intervention can provide several options.

If you’re not yet ready to have a family, it can provide insight into your reproductive health and when might be either the optimal time for fertility preservation should you want to be proactive and preserve your fertility now.

If you’re actively trying to have a family, understanding the basis for infertility can help your reproductive endocrinologist personalize your treatment.

To learn more about our test, please visit our PhosphorusOne page. To get more support around infertility issues, we encourage you to visit Resolve: The National Infertility Association.