The human genome is estimated to carry about 30,000 genes. Scientists are still researching the individual functions of these genes, as well as how they work together to impact a person’s health. Even with how much scientists have left to discover, examining certain parts of your DNA can still offer significant insight into gene mutations or abnormalities. These factors can impact many areas of personal health, including fertility. Until the early 2000s, if you wanted to know more about your genetic makeup, you would need to find a physician or genetic counselor that felt the test was relevant and necessary. Often, these tests were only a possibility if you had a family history of genetic diseases. Now, with the invention of at-home genetics tests, also called direct-to-consumer genetic testing, it’s easier than ever to know more about your genetic makeup. With the rising popularity of these tests, many couples struggling to get pregnant may be wondering — can at-home genetic testing really help you conceive?
What are at-home genetics tests?
When your physician orders a genetic test, they decide which genetic variations to study and then order the test from a medical lab. Then, after collecting and sending out the DNA sample, the doctor will interpret and share the test results with their patient. Many of these tests are at least partially covered by health insurance plans.
At-home genetic tests allow people to send their DNA samples directly to medical laboratories without a doctor’s referral—and get the results sent directly back to them. These tests started becoming available after the completion of the Human Genome Project in 2003 and have risen in popularity ever since. Now, consumers can send a small saliva sample to the genetic test of their choice and receive their genetic information directly from the test provider.
These tests have the ability to provide people with useful insights into their individual risk and genetic predisposition for some diseases and conditions. Many at-home genetic test companies point out that becoming aware of their genetic health risks can help people to make healthier and more informed lifestyle choices, especially when it comes to fertility. These tests can be a great option if you don’t have health insurance, or if your health insurance doesn’t cover the cost of genetic screening.
Direct-to-consumer genetic tests have the potential to be just as accurate as the tests ordered by physicians, but might not be as comprehensive. The testing company will tell you which genes the sample will be tested for. Some companies may even give DNA results through a physician or genetic counselor.
However, research has shown that not all direct-to-consumer genetic tests are reliable. Misleading results can cause consumers to make potentially harmful health choices. If you are considering an at-home genetic test to help you conceive, it is important to research the testing company beforehand, as well as discuss any results with your doctor before making any changes in your lifestyle or medical treatments.
How do genetics affect fertility?
The short answer? It’s complicated. For many couples, the reason for infertility may be unexplained, but it has been estimated that up to 50% of infertility cases are due in some part to genetic causes. Diagnosing the cause of infertility is complicated and genetic and environmental factors often work together to impact a person’s ability to reproduce.
Factors such as age, hormone levels, disease, and overall health can all play a role in fertility. Most conditions cited as reasons for infertility, including lack of ovulation and sperm deficiencies are likely to be influenced by a person’s genetic makeup. Even things such as obesity, psychological problems, and likelihood to have surgery may have some sort of contributing genetic factor. However, scientists are still unsure as to how big of a role genetics plays in the journey to conceive.
Genetics can affect any stage of conceiving, and both males and females have specific genetic factors that can play a role in fertility. These genetic disorders can be chromosomal, lie in single genes, or be caused by some combination of the two.
Chromosomal abnormalities are when portions of the DNA are either missing, abnormal, or have extra parts. We know that the risk for chromosomal abnormalities increases with age, but that doesn’t mean that chromosome issues can’t affect younger people as well.
For example, low sperm count is a known cause of infertility. Studies have shown that chromosomal abnormalities have been detected in up to 20% of men with semen defects, making that the most frequent cause of male infertility. Another cause of male infertility is chromosome translocation — when chromosomes rearrange or swap material.
The genetic factors that contribute to reproductive defects in women aren’t as thoroughly understood. Conditions such as developmental defects in the reproductive tract, premature ovarian failure, and premature menopause are thought to have underlying genetic issues. However, the specific genetic causes of these conditions are still being researched.
The relationship between genetics and fertility is still being widely studied. Though there have been significant breakthroughs in this field, especially in the years following the completion of the Human Genome Project, there is still much to be learned. However, scientific knowledge of the human genome is expanding every year and, with it, our understanding of the relationship between genetics and fertility.
How do at-home genetic tests work?
According to 23andMe, one of the leading providers of at-home genetic tests, the process is simple—“order, spit, discover.” For 23andMe, and most genetic tests like it, consumers can purchase their genetic test online and have it shipped to their homes. When ordering, make sure to check if the analysis and interpretation are included in the price of the test.
When you receive your testing kit, you will collect your DNA sample by either swabbing the inside of your cheek or spitting saliva into a provided tube. Some tests, such as testing for chromosomal abnormalities, may require you to get blood drawn at a clinic. Next, you’ll follow the company’s instructions to send your sample to be tested.
A medical lab will then analyze your sample for the genetic variations included in the price of the test. On the testing company’s website, you should be able to find clear information on the laboratory that will analyze the DNA sample, along with a specific outline of what they will test for. It’s a good idea to check if the laboratory is certified or accredited with organizations such as the FDA and if it meets U.S. federal regulatory standards.
You will be notified when your test results are available, either in the mail or on the company’s website. Some companies will provide you with relevant information and counselor or physician recommendations to help you interpret your results.
Talking with a genetic counselor before ordering an at-home genetic test can help you decide which type of test will be best for your specific situation. After you receive your results, a counselor can also help you understand how the results impact your fertility and how this information can influence the next steps on your journey to conceive. Test results should then be confirmed and discussed with your doctor.
Can at-home genetics tests help you conceive?
Knowing the many ways that genetics can impact fertility, it makes sense that genetic testing could play a role in helping couples that are struggling to conceive. Moreover, identifying a genetic cause for female or male factor infertility can be important in helping couples make informed decisions about which fertility treatments are right for them.
However, one of the major drawbacks of at-home genetic tests is that consumers might not be able to correctly interpret the results without the help of a genetics specialist. Also, current genetic tests have no way to account for the way that environmental factors and family history can work with genetic factors to impact fertility. For these reasons, patients should avoid making medical decisions based on the results of their tests until they have discussed the analysis with a genetics counselor or physician.
Right now, the best way to get accurate information about genetic factors affecting fertility is still through a licensed healthcare professional, but that may change in the upcoming years. Just as at-home pregnancy and ovulation tests have become useful staples for couples trying to conceive, at-home genetics tests may one day in the not-so-far future make infertility diagnoses more accessible and affordable.