3 genetic testing trends advancing women’s health

Updated on January 21, 2024

Today, more women are taking a preventative approach to their health and seeking information to inform their overall well-being. Genetic testing is one of the tools that is increasingly being used to dive deeper into understanding their health, such as determining their risk of developing hereditary cancer.

Approximately one in four women in the United States qualify for hereditary cancer testing, but only ~13% of those eligible have been tested1. This represents a massive opportunity for us collectively in the healthcare community to continue to build awareness and drive education highlighting the importance of genetic testing and the value it can provide. 

Whether a woman has a personal or family history of cancer, genetic testing may help them uncover information that can help guide medical management decisions if they are at higher risk for cancer. As we look ahead into 2024, we expect three trends to continue offering opportunities for women to shape the direction of their medical care.

Bridging the awareness gap about family health history 

Many women are looking to put themselves in the driver’s seat of their well-being by doing more research on their own, making lifestyle changes and bringing questions to their annual healthcare visits. One component that is equally important, yet often misunderstood, is family health history.

Women with a family history of breast, ovarian, uterine, or colorectal cancer, among others, may have a higher risk for developing these cancers and should consider hereditary cancer testing. Knowledge is power – and while family conversations, especially around health, can be tough, they’re important to have as they may uncover risk factors that warrant additional health management protocols such as increased screening or risk-reducing surgeries.

Our latest survey underscores the dire need for more proactive conversations to happen about family health history. More than half (55%) of women said that it’s important to know their cancer risk for “peace of mind”, yet 20% don’t talk about health issues in their families. Additionally, more than 80% of women feel they don’t have enough information about their family’s medical history to adequately understand their cancer risk. 

Whether you’re a provider on the front-line supporting patients directly or working on the scientific or clinical side, we should encourage more women to have these open conversations with their families to help close the critical awareness gap within their health profile. 

New research, evolving guidelines drive push for genetic testing

Science is always advancing. We’ll continue to see new research published and regulatory guidelines evolve to account for the latest advancements. These are key drivers in the continued adoption of genetic testing. 

Over the last few years, there have been multiple studies reporting on growing cancer diagnoses among younger, diverse patients. One recent study that evaluated the patterns in cancer incidence among people younger than 50 in the U.S. found that the individual cancer with the highest number of early-onset cases were cancers of the breast.2 While there are a variety of factors that play into younger diagnoses, this reaffirms the importance of women knowing their cancer risk profile.

Approximately 5%-10% of breast cancers are caused by an inherited gene mutation3. Women with a BRCA1 or BRCA2 gene mutation have as much as a 7 in 10 chance of being diagnosed with breast cancer by the time they’re 80 years old3. Genetic testing is the primary way to identify gene changes in BRCA and other known breast cancer genes.

For women who test negative for high-risk breast cancer gene mutations, they may still have additional breast cancer risk factors that need to be managed. This kind of information is assessed using a polygenic risk score (PRS), which is a disease risk assessment for individuals based on their genetic makeup. When combined with family history, ancestry-specific data, and other clinical and biological factors, genetic testing can provide women with a cancer risk assessment individualized to them. 

One important risk factor that should be included in a woman’s cancer risk profile is breast density. Women with dense breasts are up to four times more likely to develop breast cancer compared to women without dense breasts.4 Higher-density tissue can make it more difficult to detect breast masses or cancer during a mammogram and may require additional imaging tests.

The Federal Drug Administration recently updated mammography regulations to require mammography facilities to notify patients about the density of their breasts by September 2024. 

This is a big step forward in helping women with dense breasts get the care they need to support their breast health, though there is still work to be done to familiarize consumers about the impact of breast density. Our survey found that nearly half (48%) of women don’t know what breast density is, and 50% are unsure if breast density has anything to do with breast cancer risk.

Genetic testing fears declining

As we speak with our patients and providers, we’re hearing and seeing that fears surrounding genetic testing are easing. Many are leveraging the insights from testing as an empowering and proactive tool to support their overall health and well-being. 

In that same vein, we’re also seeing more high-profile leaders and celebrities increasingly lending their platforms to openly share their own cancer journeys, many of whom have undergone genetic testing. As they get candid about their experiences, they continue to help bring genetic testing awareness to the forefront. This transparency opens the door for more conversations every day.

Testing clarity and control builds confidence in the fight against cancer. Pre- and post-test counseling provide critical context, setting appropriate expectations for what insights gene panels can – and cannot – tell. When risk of cancer is known, it provides important context for radiologists, gynecologists, and other specialists, and allows women to pursue personalized medical management strategies if necessary. 

As an industry, we all need to continue to work together to educate women about what genetic testing is today. In 2024, we expect the landscape will continue to change as more women embrace health knowledge for the power it instills and undergo genetic testing to arm themselves with the insights they need to help inform potentially life-saving decisions.

References

1 McCormack VA, dos Santos Silva I. Breast density and parenchymal patterns as markers of breast cancer risk: a meta-analysis. Cancer Epidemiol Biomarkers Prev. 2006;15(6):1159–69. doi: 10.1158/1055-9965.EPI-06-0034 [PubMed]

2 Patterns in Cancer Incidence Among People Younger Than 50 Years in the US, 2010 to 2019, https://jamanetwork.com/journals/jamanetworkopen/fullarticle/2808381

3 https://www.cancer.org/cancer/types/breast-cancer/risk-and-prevention/breast-cancer-risk-factors-you-cannot-change.html

4 McCormack VA, dos Santos Silva I. Breast density and parenchymal patterns as markers of breast cancer risk: a meta-analysis. Cancer Epidemiol Biomarkers Prev. 2006;15(6):1159–69. doi: 10.1158/1055-9965.EPI-06-0034 [PubMed] [Google Scholar]

Melissa Gonzales
Melissa Gonzales
President, Women’s Health Business at Myriad Genetic

Melissa Gonzales is President, Women’s Health Business at Myriad Genetic.