| Web: | mayocliniclabs.com |
|---|---|
| Email: | mcl@mayo.edu |
| Telephone: | 800-533-1710 |
| International: | +1 855-379-3115 |
| Values are valid only on day of printing | |
| Web: | mayocliniclabs.com |
|---|---|
| Email: | mcl@mayo.edu |
| Telephone: | 800-533-1710 |
| International: | +1 855-379-3115 |
| Values are valid only on day of printing | |
Driving change in women’s health testing through pioneering research and novel testing strategies
Eye on Innovation
Ongoing research on the interplay of genes, hormones, and the environment on the female body has begun to shed light on women’s unique healthcare needs and resulted in new efforts to help women improve their health.
Public- and private-sector commitments to expand research, such as a $100 million funding effort by the White House Initiative on Women’s Health Research, aim to drive transformative change and close gaps in the care of women. In Mayo Clinic’s Department of Laboratory Medicine and Pathology and Mayo Clinic Laboratories, advancements in testing areas that only or predominantly impact women dovetail with shifting cultural attitudes about women’s health.
“For women in particular, I think our voices are being heard more and more over the last few decades and I think maybe that has paved the way to some of the emerging focus on women’s health,” says Elitza Theel, Ph.D., director of the Infectious Disease Serology Laboratory at Mayo Clinic. “And I think it’s really empowering that we finally have diagnostic tests and clinicians, and in-vitro manufacturers, focused on specific diseases that affect us.”
Implementation of pioneering testing strategies for conditions that disproportionately impact women galvanizes patients and providers to make informed healthcare decisions. From Alzheimer’s disease to autoimmune disorders, infectious diseases to gynecological cancers, and beyond, new and up-and-coming assays are meeting the testing needs of women across all stages of their lives.
“Focusing on women’s testing and what women need for their overall well-being, from a very young age through their reproductive years, is very important because it contributes to healthcare access,” says Anne Tebo, Ph.D., co-laboratory director of the Antibody Immunology Laboratory at Mayo Clinic. “You cannot get good access to healthcare if you don’t have good testing.”
Among the illnesses that often and disproportionately affect women during their reproductive years are autoimmune conditions, like multiple sclerosis (MS), rheumatoid arthritis (RA), and systemic lupus erythematosus (SLE) or lupus. Four out of five individuals with immune-mediated conditions are female.1 Certain conditions, like lupus, have a much higher discrepancy, with nine females affected to one male.
For those with immune-mediated disorders like lupus, which are chronic and present with disease flares that can lead to life-threatening symptoms, the ability to gauge and monitor disease activity has tremendous benefit. But identifying and predicting disease flares can be difficult with traditional testing approaches due to varied presentation.
“Lupus testing is kind of challenging, particularly to help manage patients because it’s a very heterogenous disease and sometimes the disease process cannot be predicted,” Dr. Tebo says. “The current tests we have are challenging. These tools are not sensitive enough and they are not reliable — they don’t predict for everyone.”
In early 2024, Mayo Clinic Laboratories began offering two new assays in collaboration with Progentec Diagnostics that evaluate serum samples of lupus patients for certain biomarkers associated with disease activity. The lupus disease activity index (Mayo ID: LDAI) and risk flare index (Mayo ID: LFRI) measure biomarkers in the blood to better understand the immune status of patients, which directly correlates to disease activity, including new or heightened active disease. This allows for proactive treatment planning and disease management.
Along with a proactive approach, easy access to diagnostic healthcare is an increasingly important need for women, who often squeeze medical appointments and testing between managing careers and families.
“For us at Mayo Clinic, we always try to stay at the forefront and try to be ahead of the ‘status quo’ understanding what is next,” Dr. Theel says. “And in the area that I oversee, the next step is allowing people the freedom to essentially collect samples and request testing from wherever they may be.”
For example, among the areas of focus for Mayo Clinic researchers in the infectious diseases testing space are sample self-collections at both the point-of-care and at home, which provides patients with flexible testing options, Dr. Theel says.
At Mayo Clinic, research on the influence of genetic variation on women’s bodies has enabled the development of leading-edge, genetic assays that support personalized medicine.
Including testing for hereditary cancer syndromes, cardiovascular disorders, and carrier screening, among others, Mayo Clinic Laboratories genetics testing covers the diagnostic testing spectrum.
“Our vast portfolio of genetic testing allows us to meet women wherever they are on their journey to hopefully prevent, treat, or cure different diseases,” says genetic counselor Carrie Lahner, who supports Mayo Clinic Laboratories testing.
In the area of cancer testing, Mayo Clinic Laboratories recently launched advanced molecular sequencing panels for gynecological cancer (Mayo ID: MCGYN); endometrial cancer (Mayo ID: MCECP); ovarian, fallopian tube, and peritoneal cancer (Mayo ID: MCOCP); and also offers a rapid hereditary breast cancer treatment decision panel (Mayo ID: BRTP).
“These tests are detecting those genetic factors that can be attributed to cancers in those women,” says Wei Shen, Ph.D., associate director of the Clinical Genome Sequencing Laboratory. “We’re trying to not only offer the test but to provide the results back to the patient as soon as possible to help them further manage their care.”
Conditions like hereditary breast and ovarian cancer syndrome and Lynch syndrome have been revealed to be more common than previously thought. For instance, approximately one in 250 individuals are carriers for one of the genes associated with Lynch syndrome.
“And for these patients that are testing positive, we know it will have a significant impact on their personalized recommendations for screening and consideration of surgery to ameliorate some of that level of risk,” Lahner says.
For instance, women who are positive for variation in the BRCA1 or BRCA2 genes have a 70% risk of developing breast cancer, compared to a 12% risk in the general population.
“For that cancer, it has a very high mortality — it is a very severe disease, but the good news is if we can detect the cancer early enough, we might find the cancer is treatable,” Dr. Shen says.
Ongoing research at Mayo Clinic on connections between genetic variation and disease risk has propelled further innovation in the women’s cancer testing space. Among the testing strategies currently being researched is a polygenic risk score assessment for individualized breast cancer risk.
The tool, which is available to patients enrolled in the Genetic Risk Estimate (GENRE) clinical trial, gives women identified as having high-risk mutations a clearer sense of their risk trajectory, says oncologist Sandhya Pruthi, M.D., who is spearheading the research effort at Mayo Clinic.
The identification of single nucleotide polymorphisms (SNPs) in genetic code that are highly correlated with developing breast cancer paved the way for the development of the tool. Using advanced sequencing, the testing platform evaluates nearly 250 SNPs in regions next to the BRCA1, BRCA2, PALB2, ATM, and CHEK2 genes.
“In women who had these genes, when the SNPs were present, it could modify the penetrance of the gene,” Dr. Pruthi says. “And depending on which specific gene the patient had, in combination with the SNPs, the risk calculator tools can inform women if they were potentially less likely to be high risk or low risk for developing breast cancer.”
For women, no matter the medical issue, knowledge is key to managing care.
“It all comes down to decisions,” Dr. Tebo says.
For instance, women with autoimmune conditions who want children often face choices regarding fertility preservation, Dr. Tebo adds.
“Sometimes with a specific autoimmune disease it can be challenging for women to become pregnant,” Dr. Tebo says. “But knowing you have that disease helps the physician design a plan for pregnancy such that you have a good outcome, not just for the mother but for the child.”
For women with pathogenic genetic variants that increase their risk of breast cancer, knowing their 5-year, 10-year, or lifetime risk of developing a malignancy supports individualized disease management.
“This is information patients are able to use to guide them in the timing of significant life decisions around their health, and conceiving and family planning,” Dr. Pruthi says. “For many of these women having this additional genetic information, new information that’s personalized to them, has really given them a better understanding of their personal health. They feel comfortable knowing that they might, for instance, time a risk-reducing surgical procedure in the next five to ten years, and it’s not an urgent decision.”
But the value of test results extends beyond the personal. Diagnostic answers from novel assays allow researchers to expand upon what is known about why women are more at risk for certain diseases, such as Alzheimer’s disease and autoimmune disorders.
“It’s a critical question, but the two factors that we know a lot about are our chromosomes and our hormones,” says Kejal Kantarci, M.D., director of Mayo Clinic Women’s Health Research Center, which focuses on advancing research into why certain illnesses occur more often and manifest differently in women than men. Among Dr. Kantarci’s primary research interests is Alzheimer’s disease, which is twice as common in women than men.
“Women who have a certain genetic risk for Alzheimer's disease tend to develop the pathology at an earlier age,” Dr. Kantarci says. “So, they have both genes and their hormones most likely interact to make them more susceptible. And that timing coincides with the timing of menopausal transition — so there's some suggestion that estrogen may be playing a role.”
For Dr. Kantarci, tests like Mayo Clinic Laboratories’ new Alzheimer’s disease blood biomarker test (Mayo ID: PT217), which measures levels of phosphorylated Tau 217 (p-Tau217), will provide data that supports research on the connections between hormones and disease onset.
“I really look forward to having this biomarker utilized in women’s health even more,” Dr. Kantarci says.
From personal to societal, the impact of diagnostic results on women’s health crosses many levels.
“When a woman suffers, the family suffers, and when the family suffers the community and society are left behind,” Dr. Tebo says. “Understanding how tests work in this population and knowing what tests are available to help manage specific issues during the reproductive years and beyond is very important.”
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