Free Guide to Understanding Myriad Genetics

What Myriad Genetics Does and How It Started

Myriad Genetics is a company based in Salt Lake City, Utah that specializes in genetic testing. The company was founded in 1991 and has grown to become one of the largest genetic testing providers in the United States. Myriad operates laboratories that analyze DNA samples to look for specific genetic mutations and variations that may relate to various health conditions and traits.

The company offers testing services across several categories of genetic information. These include cancer risk assessment, reproductive health screening, mental health and pharmacogenomics testing, and ancestry and wellness information. Myriad's laboratories process hundreds of thousands of tests each year, making it one of the most frequently used genetic testing companies in American healthcare.

Understanding what Myriad Genetics actually does requires knowing that genetic testing is a medical procedure. When someone provides a sample—typically saliva or a blood sample—Myriad's scientists examine the DNA in that sample. They look for specific genetic variations that researchers have identified as being associated with certain health conditions, medication responses, or ancestry patterns. The company then provides a report with findings based on what they discover in the DNA.

It's important to note that Myriad Genetics operates differently from many other companies in the genetic testing space. While some companies focus on ancestry or entertainment purposes, Myriad primarily works with healthcare providers and patients seeking medically relevant genetic information. This means many Myriad tests are ordered by doctors as part of patient care, though some tests are also available directly to consumers.

Myriad has also been involved in significant legal and scientific discussions about genetic testing. In 2013, the U.S. Supreme Court ruled that Myriad could not hold a patent on the BRCA1 and BRCA2 genes themselves—genes the company had previously tested for. This decision opened the market to other companies offering similar testing, but Myriad remains a major provider of these tests.

Practical Takeaway: Myriad Genetics is a well-established company that provides DNA-based testing services through healthcare providers and direct-to-consumer options. Their primary focus is medical genetic testing rather than entertainment ancestry services.

Understanding BRCA Testing and Cancer Risk Assessment

One of Myriad's most well-known services is testing for BRCA1 and BRCA2 gene mutations. These genes produce proteins that repair damaged DNA in cells throughout the body. When someone carries a mutation in BRCA1 or BRCA2, their cells may have difficulty repairing DNA damage, which can increase the risk of certain cancers—particularly breast cancer, ovarian cancer, and prostate cancer.

The statistics around BRCA mutations are significant. According to the National Cancer Institute, approximately 1 in 400 to 1 in 800 people in the United States carry a BRCA1 or BRCA2 mutation. However, these mutations are more common in certain populations. For example, individuals of Ashkenazi Jewish descent have about a 1 in 40 chance of carrying a BRCA mutation. Among people with family histories of early-onset breast cancer or ovarian cancer, the likelihood of carrying a mutation is considerably higher.

If someone carries a BRCA mutation, their lifetime risk of developing breast cancer by age 70 ranges from about 45% to 87%, depending on which gene is mutated and other individual factors. For ovarian cancer, the risk ranges from about 11% to 46%. These numbers are substantially higher than the general population risk—about 13% for breast cancer and less than 2% for ovarian cancer in women without BRCA mutations.

Myriad's BRCA testing examines both genes for mutations. The test typically involves providing a saliva sample or blood sample, which is then analyzed in the laboratory. The analysis looks for deletions, insertions, and substitutions in the BRCA1 and BRCA2 genes. Results typically come back within one to three weeks.

The information provided in Myriad's test reports includes whether mutations were found, what those mutations are, and what research suggests about cancer risks associated with those specific mutations. The reports may also include information about what the findings might mean for family members, since BRCA mutations are inherited and can be passed down through families.

Myriad also offers other cancer risk assessments beyond BRCA testing. These include testing for genes related to Lynch syndrome (which increases colon cancer risk), hereditary diffuse gastric cancer, and other hereditary cancer syndromes. Each test examines different genes associated with different cancer types and risk levels.

Practical Takeaway: BRCA testing examines specific genes to provide information about inherited cancer risk. Understanding your genetic status may help inform conversations with healthcare providers about screening and monitoring options.

Reproductive and Prenatal Genetic Testing Options

Myriad offers several genetic testing options related to reproductive health and pregnancy. These tests provide information about genetic risks that may affect pregnancies or future children. One major category includes carrier screening tests, which examine whether someone carries genes for genetic conditions they might pass to their children.

Carrier screening looks for recessive genetic conditions—conditions where someone needs to inherit the mutation from both parents to actually have the condition. Common conditions screened include cystic fibrosis, sickle cell disease, and Tay-Sachs disease. If both parents are carriers of the same recessive condition, each child has a 25% chance of inheriting the condition and having symptoms.

According to the American College of Obstetricians and Gynecologists, carrier screening is now recommended for most pregnancies or before pregnancy. Myriad's carrier screening tests can examine panels of genes—some looking at a few dozen conditions, others examining hundreds of potential genetic carriers. The test typically involves a simple saliva or blood sample and provides a report indicating whether the person is a carrier for any of the screened conditions.

Myriad also offers prenatal genetic testing for pregnancies already underway. These tests examine genetic material from the pregnancy to look for chromosomal abnormalities like Down syndrome (trisomy 21), Edwards syndrome (trisomy 18), and Patau syndrome (trisomy 13). One option, called non-invasive prenatal testing (NIPT), analyzes fetal DNA found in the pregnant person's blood. This test can typically be performed starting at 9 weeks of pregnancy.

The accuracy of modern prenatal genetic testing is quite high. NIPT for Down syndrome, for example, detects approximately 99% of cases, with a false positive rate of less than 1%. This makes it significantly more accurate than older screening methods like first-trimester screening combined with second-trimester screening.

Another type of prenatal testing Myriad offers is expanded carrier screening, which examines more genetic conditions than standard carrier screening. Some of these tests look at over 500 conditions. This allows prospective parents to learn about a broader range of genetic risks before pregnancy or early in pregnancy.

It's important to understand that genetic testing results during pregnancy provide information but do not diagnose conditions definitively in all cases. Some results require follow-up testing or consultation with genetic counselors to fully interpret what the information means for a specific pregnancy.

Practical Takeaway: Reproductive genetic testing provides information about genetic risks before or during pregnancy. Results can inform conversations with healthcare providers about monitoring, additional testing, or management options.

Mental Health and Pharmacogenomics Testing

Beyond cancer and reproductive health, Myriad offers genetic testing related to mental health conditions and medication response. Pharmacogenomics testing examines how a person's genes may affect how their body processes certain medications. This information may help healthcare providers select medications and dosages that are more likely to be effective with fewer side effects.

Mental health pharmacogenomics testing focuses primarily on how genes affect the metabolism of psychiatric medications. Medications used to treat depression, anxiety, bipolar disorder, and other mental health conditions are processed differently by different people. Some people metabolize certain medications very quickly, meaning the medication may not reach therapeutic levels in their system. Others metabolize medications slowly, meaning medication may accumulate to higher levels, increasing the risk of side effects.

Myriad's test in this category examines variations in genes like CYP450, which produces enzymes that break down psychiatric medications. By understanding a patient's genetic makeup related to these enzymes, a healthcare provider may make more informed decisions about which medications to try and