Myriad Genetics Blog Back to Health Systems Resource Hub Myriad Genetics Blog > The Clinical Impact of Myriad Women’s Health on Hereditary Cancer Risk Assessment and Genetic Testing The Clinical Impact of Myriad Women’s Health on Hereditary Cancer Risk Assessment and Genetic Testing September 4, 2025 Health Systems Women's Health Gabriel Lazarin, VP Medical Affairs, Women’s Health, Myriad Genetics Edie Smith, Doctor of Nursing Practice, Senior Medical Science Liaison, Women’s Health, Myriad Genetics Is ‘good enough’ really enough? When considering the clinical impact of genetic testing for women, we must confront the question of what is ‘good enough.’ If clinicians and administrators consider all genetic tests more or less equal, they may contract for them primarily based on price, while overlooking factors such as accuracy, scientific rigor, and service offerings in their decision criteria. These decisions matter, because if a test result is inaccurate or incomplete, the provider may act on it and recommend a management plan that is not appropriate for that patient’s actual level of risk. There can be overtreatment implications or under-management consequences, as well. We see an opportunity to educate and provide some useful tools for clinicians in this area. Asking two simple questions When a test vendor provides test result information, it’s important to not get lost in the details. To keep it simple, providers should ask two questions of every lab they use, especially in hereditary cancer testing. If there is a genetic variant present, can the lab find it? If the lab does identify a variant, do they know how to classify it? The first question is about identifying important changes; the second has to do with whether the lab knows what the variant means when they do find it. This is pertinent because not every lab interprets variants the same way. They don’t all have the same technology. They may focus on answering one of the questions above or answering the questions with limited information. They may not do follow-up studies, publish their data, or allow people to examine the data for themselves. At Myriad, we pride ourselves on being remarkably consistent in attempting to answer these two questions thoroughly and correctly for every one of our tests. To demonstrate this, the remainder of the article focuses on how we leverage our 30+ years as a pioneer in women’s health genetic testing to achieve accurate first sample results for hereditary cancer, carrier screening, and prenatal cell-free DNA screening. Going beyond Eurocentric data As a complement to our hereditary cancer risk assessment test, MyRisk®, Myriad developed RiskScore® as a comprehensive tool that includes polygenic risk score (PRS) – a combination of single nucleotide polymorphisms (SNPs) that are associated with breast cancer risk – and a commonly utilized breast cancer risk assessment tool called The Tyrer-Cuzick model. Initially, polygenic risk scores were created using the only data sets available at the time that were large enough. However, they were drawn largely from a European population which created a barrier for patients that did not share that background. At Myriad®, we knew that we wanted to provide a test that was both accurate and inclusive. That’s why we created the first polygenic risk score for all ancestries using an entirely new method that is accurate for everyone and can be used for any hereditary disease. The enhanced MyRisk test with RiskScore provides a personalized assessment of the five-year risk and remaining lifetime risk of developing cancer that is two times more predictive of breast cancer risk than Tyrer-Cuzick alone.1 In the case of genetic carrier screening, many ancestral groups were not adequately served by medical guidelines that focused on only a few populations. To address this, Myriad engaged in tests and studies to develop Foresight®, a carrier screen that benefits all ancestries. Myriad continuously strives to improve genetic tests like MyRisk and carrier screening like Foresight to enhance the quality of the results for patients and share their findings with the medical community via several published validation studies that support its use. BMI should never be a testing barrier High BMI is often talked about as if it’s relatively rare in our populations. Yet the reality is that the BMI of the average woman in the U.S. is 29.8,2 and 50% of pregnant patients present with high BMI.3 In the case of prenatal screens, which provide information for a wide variety of chromosomal conditions in the baby like Down syndrome, Edwards syndrome, and Patau syndrome, pregnant patients with high BMI have less available fetal fraction (FF) in the blood and can negatively impact cell-free DNA (cfDNA) screening results.4 Low fetal fraction is one of the most common causes of indeterminate results, especially among women with high BMI. Many labs have simply acknowledged these disparities as a limitation and moved on, pushing this kind of screen to 12-14 weeks or later in the woman’s pregnancy when the disparities decrease. This can result in delayed answers, invasive diagnostic tests, and patient anxiety.5 Myriad, however, developed a technology called AMPLIFY™ for its Prequel® cell-free DNA Prenatal Screen to address this fetal fraction limitation and allow for screening as early as eight weeks, even in high BMI patients.6,7 One way to think of cell-free DNA is spaghetti noodles floating around in our bloodstream. The cfDNA “spaghetti” from the mother tends to be longer than that of the fetus. Like a specialized colander, our proprietary AMPLIFY technology essentially separates out the fetus’s cfDNA, creating a far more concentrated sample – a higher fetal fraction – for more accurate testing. Having to redraw and rescreen a new sample is a burden on clinical staff and a poor patient experience. Expectant mothers screened with Prequel Prenatal Screen need not wait, however, because our AMPLIFY technology increases fetal fraction 2.3x on average for everyone, regardless of BMI or ancestry.8,9 This allows for screening weeks earlier and results in more confident answers on the first draw. Better science for a better experience Every health system, whether commercial or nonprofit, has an interest in maximizing health outcomes for their patients. If they operate in a region, area, or city that has an ethnically and ancestrally diverse population, they should be able to account for this diversity. Myriad has long been a leader in driving the science forward on these tests. But we also continue to be interested in helping providers overcome barriers, so their patients make the best possible decisions for their health. Access is one example. You may have a great test, but if patients can’t access it or a financial barrier prevents them from obtaining it, it’s not doing anyone any good. Like health systems, we want what’s best for patients and families. Most commercial and federal health insurance policies cover our tests, and we also offer reasonable direct pay options and financial assistance for those who qualify. We recognize there are a lot of variables that influence access, and we want to be a supportive, helpful testing provider in all of them. So, as you work with your genetic testing provider, ask questions: about the science and technology behind the testing, about the information that’s accessible to patients, and about the genetic education and financial support they offer. The more questions you ask, the closer your system will come to achieving the goal of healthy patients and families and more positive health outcomes – even if that means changing your genetic testing provider to one that can provide more comprehensive and reliable results. References Mabey B, Hughes E, Kucera M, et al. Validation of a clinical breast cancer risk assessment tool combining a polygenic score for all ancestries with traditional risk factors. Genet Med. 2024;26(7):101128. Wessels D. What is the average weight for women? Medical News Today. November 30, 2023. Accessed May 6, 2025. https://www.medicalnewstoday.com/articles/321003 Deputy, N, Dub, B. Sharma, A. Prevalence and trends in prepregnancy normal weight – 48 states, New York City, and District of Columbia, 2011–2015 MMWR Morb. Mortal. Wkly. Rep. 2018; 66:1402-1407 Bodnar, L, Johansson, K, Himes, K, et al. Gestational weight gain below recommendations and adverse maternal and child health outcomes for pregnancies with overweight or obesity: a United States cohort study. American Journal of Clinical Nutrition. Sep 2024; (3)638-647. Van Schendel R, Lieve Page-Christiaens, G, Beulenet,L, al. Women’s Experience with Non-Invasive Prenatal Testing and Emotional Well-being and Satisfaction after Test-Results. J Genet Couns. 2017 Dec;26(6):1348-1356. doi: 10.1007/s10897-017-0118-3. Epub 2017 Jun 30. PMID:28667567 Hancock S, Ben-Shachar R, Adusei C, et al. Clinical experience across the fetal-fraction spectrum of a non-invasive prenatal screening approach with low test-failure rate. Ultrasound Obstet Gynecol. 2020;56(3):422-430. doi:10.1002/uog.21904. Muzzey D, Goldberg J, Haverty C. Noninvasive prenatal screening for patients with high body mass index: Evaluating the impact of a customized whole genome sequencing workflow on sensitivity and residual risk. Prenat Diagn. 2020;40(3):333-341. doi:10.1002/pd.5603. Welker, N, Lee, A, Kjolby, R, et al. High-throughput fetal fraction amplification increases analytical performance of noninvasive prenatal screening. Genet Med 23, 443–450 (2021). https://doi.org/10.1038/s41436-020-01009-5 Yared E, Dinsmoor, M, Endres L, et al. Obesity increases the risk of failure of noninvasive prenatal screening regardless of gestational age. Am J Obstet Gynecol. 2016 Sep;215(3):370.e1-6. doi: 10.1016/j.ajog.2016.03.018. Epub 2016 Mar 17.