Early detection can raise five-year survival rates above 90%, yet most ovarian cancer cases are found late. Emerging biomarker panels and AI-driven tools are empowering labs to make early diagnosis a reality.
For clinical laboratories, the fight against ovarian cancer highlights both the challenges and opportunities in early disease detection. Despite being one of the most difficult cancers to diagnose in its early stages, ovarian cancer outcomes improve dramatically when it’s caught early—underscoring the importance of laboratory innovation, diagnostic vigilance, and collaboration with clinicians. As researchers explore new biomarkers and AI-assisted tools for earlier, less invasive detection, lab professionals are positioned to play a pivotal role in advancing women’s health and improving survival rates.
Detecting ovarian cancer early is challenging but crucial for timely, effective treatment and improved survival. Too often, women are diagnosed after the disease has advanced. However, experts emphasize that the so-called “silent killer” doesn’t have to be silent—greater awareness of its warning signs and risk factors can make a life-saving difference.
“All women are at risk for gynecologic cancers, and risk increases with age,” explained Ruth Stephenson, DO, Gynecologic Oncologist at RWJBarnabas Health (RWJBH) and Rutgers Cancer Institute in a blog post. “If women suspect something isn’t right, for any reason, they shouldn’t hesitate. Early detection is their greatest asset.”
Stephenson encourages women to be proactive by maintaining regular health visits and being cognizant of their risk factors and the possible symptoms of ovarian cancer.
Other symptoms may include fatigue, upset stomach, back pain, pain during intercourse, constipation, menstrual cycle changes, and abdominal swelling.
Declines in Ovarian Cancer Cases Reflect Prevention Gains but Ongoing Risks Persist
Cases of ovarian cancer have been on the decline over the past several decades and ovarian cancer deaths have decreased by 43% since 1976, mostly due to increased use of oral contraceptives and lower use of hormonal therapies. According to the ACS, approximately 20,890 women will receive an ovarian cancer diagnosis in 2025 and about 12,730 women will die from the disease this year. Approximately half the diagnoses of ovarian cancer occur in women over the age of 63 and it is the sixth most common cancer among women in the US. A woman’s risk of getting the disease is about 1 in 91 and the risk of dying from ovarian cancer is approximately 1 in 143.
The cause of most ovarian cancers is unknown, but several aspects have been identified that may affect the risk for obtaining the illness, including:
Older age
Inherited gene mutations, such as BRCA1, BRCA2, or Lynch syndrome
Ruth Stephenson, DO, Gynecologic Oncologist at RWJBH and Rutgers Cancer Institute noted, “Knowing your family history of ovarian and breast cancers, listening to your body, and asking the right questions are among your strongest tools.”
The five-year survival rate for women diagnosed in Stage 1 of ovarian cancer is over 90%, but the survival rates decrease substantially when diagnosed in the later stages. Researchers have been using AI along with blood tests that combine protein and lipid markers to develop methods for earlier and less invasive detection of the disease. Other studies are being conducted to determine whether urine or vaginal samples can detect molecular changes linked to ovarian cancer.
Awareness Campaigns
In September, the ACS and Break Through Cancer announced a collaboration to advance awareness and prevention of ovarian cancer. “This alliance will turn two decades of scientific advances into action by combining research, education, awareness, marketing, and policy strategies to support those at risk of ovarian cancer and their clinicians,” the ACS said in a news release.
“The Outsmart Ovarian Cancer campaign seeks to close the gap between science and practice to ensure that patients and health care providers know the facts, the options, and have the potential to stop ovarian cancer before it starts,” said William Dahut, MD, chief scientific officer of the American Cancer Society. “This awareness campaign aims to give everyone their best chance to outsmart ovarian cancer.”
Detection and treatment options for ovarian cancer continue to improve and providing women with important information about the disease is part of a fundamental strategy for conquering the illness.
“With the American Cancer Society’s national platform and Break Through Cancer’s scientific engine, we are joining forces to bring this knowledge to millions of women,” said Tyler Jacks, PhD, president of Break Through Cancer. “The Outsmart Ovarian Cancer campaign is poised to share emerging research, inform patients, and support health care providers with resources and evolving prevention strategies.”
As awareness campaigns like Outsmart Ovarian Cancer bring renewed focus to prevention and early diagnosis, laboratories have an opportunity to strengthen their role as educators and innovators. Whether through developing and validating biomarker panels, participating in clinical trials, or helping providers interpret evolving screening data, labs can help bridge the gap between research and real-world care. In the ongoing effort to make ovarian cancer less “silent,” the laboratory’s voice—and its science—are essential.
Nearly 100,000 patients submitted saliva samples to a genetic testing laboratory, providing insights into their disease risk
Researchers at Mayo Clinic have employed next-generation sequencing technology to produce a massive collection of exome data from more than 100,000 patients, offering a detailed look at genetic variants that predispose people to certain diseases. The study, known as Tapestry, was administered by doctors and scientists from the clinic’s Center for Individualized Medicine and produced the “largest-ever collection of exome data, which include genes that code for proteins—key to understanding health and disease,” according to a Mayo Clinic news release.
For our clinical laboratory professionals, this shows the keen interest that a substantial portion of the population has in using their personal genetic data to help physicians identify their risk for many diseases and types of cancer. This support by healthcare consumers is a sign that labs should be devoting attention and resources to providing these types of gene sequencing services.
As Mayo explained in the news release, the exome includes nearly 20,000 genes that code for proteins. The researchers used the dataset to analyze genes associated with higher risk of heart disease and stroke along with several types of cancer. They noted that the data, which is now available to other researchers, will likely provide insights into other diseases as well, the news release notes.
“What we’ve accomplished with the Tapestry study is a blueprint for future endeavors in medical science,” said gastroenterologist and lead researcher Konstantinos Lazaridis, MD (above), in the news story. “It demonstrates that through innovation, determination and collaboration, we can deeply advance our understanding of DNA function and eventually other bio-molecules like RNA, proteins and metabolites, turning them into novel diagnostic tools to improve health, prevent illness, and even treat disease.” Some of these newly identified genetic markers may be incorporated into new clinical laboratory assays. (Photo copyright: Mayo Clinic.)
How Mayo Conducted the Tapestry Study
One notable aspect of the study was its methodology. The study launched in July 2020 during the COVID-19 pandemic. Since many patients were quarantined, researchers conducted the study remotely, without the need for the patients to visit a Mayo facility. It ran for five years through May 31, 2024. The news release notes that it’s the largest decentralized clinical trial ever conducted by the Mayo Clinic.
The researchers identified 1.3 million patients from the main Mayo Clinic campuses in Minnesota, Arizona, and Florida who met the following eligibility criteria:
Participants had to be 18 or older,
they had to have internet and email access, and
be sufficiently proficient in speaking and reading English.
More than 114,000 patients consented to participate, but some later withdrew, resulting in a final sample of 98,222 individuals. Approximately two-thirds were women. Mean age was 57 (61.9 for men and 54.3 for women).
“It was a tremendous effort,” said Mayo Clinic gastroenterologist and lead researcher Konstantinos Lazaridis, MD, in the news release. “The engagement of such a number of participants in a relatively short time and during a pandemic showcased the trust and the dedication not only of our team but also of our patients.”
He added that the researchers “learned valuable lessons about some patients’ decisions not to participate in Tapestry, which will be the focus of future publications.”
Three Specific Genes
Enrolled patients were invited to visit a website, where they could view a video and submit an eligibility form. Once approved, they completed a digital consent agreement and received a saliva collection kit. Participants were also invited to provide information about their family history.
Helix, a clinical laboratory company headquartered in San Mateo, Calif., performed the exome sequencing.
Though Helix performed whole exome sequencing, the researchers were most interested in three specific sets of genes:
Patients received clinical results directly from Helix along with information about their ancestry. Clinical results were also transmitted to Mayo Clinic for inclusion in patients’ electronic health records (EHRs).
Among the participants, approximately 1,800 (1.9%) had what the researchers described as “actionable pathogenic or likely pathogenic variants.” About half of these were BRCA1/2.
These patients were invited to speak with a genetic counselor and encouraged to undergo additional testing to confirm the variants.
Tapestry Genomic Registry
In addition to the impact on the participants, Mayo Clinic’s now has an enormous amount of raw sequencing data stored in the Tapestry Genomic Registry, where it will be available for future research.
The database “has become a valuable resource for Mayo’s scientific community, with 118 research requests submitted,” the researchers wrote in the news release. Mayo has distribution more than a million exome datasets to other genetic researchers.
“What we’ve accomplished with the Tapestry study is a blueprint for future endeavors in medical science,” Lazaridis noted. “It demonstrates that through innovation, determination, and collaboration, we can deeply advance our understanding of DNA function and eventually other bio-molecules like RNA, proteins and metabolites, turning them into novel diagnostic tools to improve health, prevent illness, and even treat disease.”
Everything about this project is consistent with precision medicine, and the number of individuals discovered to have risk of cancers is relevant. Clinical laboratory professionals understand these ratios and the importance of early detection and early intervention.
Half of the people tested were unaware of their genetic risk for contracting the disease
Existing clinical laboratory genetic screening guidelines may be inadequate when it comes to finding people at risk of hereditary breast-ovarian cancer syndromes and Lynch syndrome (aka, hereditary nonpolyposis colorectal cancer). That’s according to a study conducted at the Mayo Clinic in Rochester, Minn., which found that about half of the study participants were unaware of their genetic predisposition to the diseases.
Mayo found that 550 people who participated in the study (1.24%) were “carriers of the hereditary mutations.” The researchers also determined that half of those people were unaware they had a genetic risk of cancer, and 40% did not meet genetic testing guidelines, according to a Mayo Clinic news story.
The discoveries were made following exome sequencing, which the Mayo Clinic news story described as the “protein-coding regions of genes” and the sites for most disease-causing mutations.
“Early detection of genetic markers for these conditions can lead to proactive screenings and targeted therapies, potentially saving lives of people and their family members,” said lead author Niloy Jewel Samadder, MD, gastroenterologist and cancer geneticist at Mayo Clinic’s Center for Individualized Medicine and Comprehensive Cancer Center.
“This study is a wake-up call, showing us that current national guidelines for genetic screenings are missing too many people at high risk of cancer,” said lead author Niloy Jewel Samadder, MD (above), gastroenterologist and cancer geneticist at Mayo Clinic’s Center for Individualized Medicine and Comprehensive Cancer Center. New screening guidelines may increase the role of clinical laboratories in helping physicians identify patients at risk of certain hereditary cancers. (Photo copyright: Mayo Clinic.)
Advancing Personalized Medicine
“The goals of this study were to determine whether germline genetic screening using exome sequencing could be used to efficiently identify carriers of HBOC (hereditary breast and ovarian cancer) and LS (Lynch syndrome),” the authors wrote in JCO Precision Oncology.
For the current study, Helix, a San Mateo, Calif. population genomics company, collaborated with Mayo Clinic to perform exome sequencing on the following genes:
BRCA1 and BRCA2 genes (hereditary breast and ovarian cancer).
Mayo/Helix researchers performed genetic screenings on more than 44,000 study participants. According to their published study, of the 550 people who were found to have hereditary breast cancer or Lynch syndrome:
387 had hereditary breast and ovarian cancer (27.2% BRCA1, 42.8% BRCA2).
163 had lynch syndrome (12.3% MSH6, 8.8% PMS2, 4.5% MLH1, 3.8% MSH2, and 0.2% EPCAM).
Participants recruited by researchers hailed from Rochester, Minn.; Phoenix, Ariz.; and Jacksonville, Fla.
Minorities were less likely to meet the NCCN criteria than those who reported as White (51.5% as compared to 37.5%).
“Our results emphasize the importance of expanding genetic screening to identify people at risk for these cancer predisposition syndromes,” Samadder said.
Exome Data in EHRs
Exomes of more than 100,000 Mayo Clinic patients have been sequenced and the results are being included in the patients’ electronic health records (EHR) as part of the Tapestry project. This gives clinicians access to patient information in the EHRs so that the right tests can be ordered at the right time, Mayo Clinic noted in its article.
“Embedding genomic data into the patient’s chart in a way that is easy to locate and access will assist doctors in making important decisions and advance the future of genomically informed medicine.” said Cherisse Marcou, PhD, co-director and vice chair of information technology and bioinformatics in Mayo’s Clinical Genomics laboratory.
While more research is needed, Mayo Clinic’s accomplishments suggest advancements in gene sequencing and technologies are making way for data-driven tools to aid physicians.
As the cost of gene sequencing continue to fall due to improvement in the technologies, more screenings for health risk factors in individuals will likely become economically feasible. This may increase the role medical laboratories play in helping doctors use exomes and whole genome sequencing to screen patients for risk of specific cancers and health conditions.
Findings could lead to new clinical laboratory cancer screening tests for BRCA1 and BRCA2 among specific population regions
Descendants of a remote Scottish island are much more likely to carry a cancer-causing BRCA2 gene than the rest of the UK. That’s according to a study conducted by the University of Edinburgh in Scotland. For pathologists and clinical laboratory managers, the study’s findings demonstrate how ongoing research into the genetic makeup of subpopulations will find groups that have higher risk for specific health conditions than the general population. Thus, diagnosticians can pay closer attention to screening these groups to achieve early diagnosis and intervention.
“The findings follow earlier research from the Viking Genes study that found a cancer-causing variant in the related BRCA1 gene, common among people from Orkney [a group of islands off Scotland’s northern coast],” noted a University of Edinburgh news release.
In their latest research, the genetic scientists discovered that the BRCA2 gene can be found in one in every 40 people with heritage from the island of Whalsay in Scotland’s Shetland island group. This gene is one of the most common genes that can be linked to breast cancer and ovarian cancer in women and breast and prostate cancer in men.
Those who inherit the BRCA2 gene have a significantly higher risk of developing certain cancers than the general population. For example, according to the National Cancer Institute, more than 60% of women who inherit the gene will develop breast cancer in their lifetimes.
The volunteers in the Viking Genes study have a risk of having a BRCA2 gene that is 130 times higher than the general UK population. According to the BBC, geneticists believe the gene can be traced back to one family from the island of Whalsay before 1750.
“It is very important to understand that just two gene changes account for more than 90% of the inherited cancer risk from BRCA variants in Orkney and Shetland. This is in stark contrast to the situation in the general UK population, where 369 variants would need to be tested to account for the same proportion of cancer risk from BRCA genes. Any future screening program for the Northern Isles should therefore be very cost-effective,” said James Wilson, DPhil, FRCPE (above), Professor of Human Genetics at University of Edinburgh and leader of the study, in a news release. Clinical laboratories in the UK will be involved in those screenings. (Photo copyright: Scottish Genomes Partnership.)
Early Diagnosis Brings Hope to Families
The UK’s National Health Service (NHS) offers genetic testing to relatives of people with a known BRCA variant. Individuals with at least one Whalsay grandparent, and who have a close family history of breast, ovarian, or prostate cancer, can also request NHS testing.
As the BBC reported, University of Edinburgh’s discovery has given families answers and hope for the future. Individuals who fit the criteria for being at risk of inheriting the BRCA gene can narrow their testing and work more specifically on preventative measures with their doctors.
Christine Glaser, a woman from Lerwick in Shetland, learned she carried the BRCA gene after participating in the study. Though the Viking genes research took place nearly a decade ago, scientific understanding of genes has improved allowing geneticists to draw new conclusions from previous studies.
Although Glaser lost her sister to ovarian cancer, she and her family were unaware of their heightened genetic risk.
“I got offered preventative measures so I could get my ovaries removed and I could get a mastectomy. So, that’s what I did … when I got my ovaries removed, they checked them and there was no cancer, but then I had a mammogram and they found cancer,” she told the BBC. Glaser’s cancer was successfully treated thanks to early detection.
Closing Gap in Genetic Testing
“This BRCA2 variant in Whalsay I think arose prior to 1750. This is why these things become so common in given places because many people descend from a couple quite far back in the past, and if they have a cancer variant, then a significant number of people today—five or even 10 generations later—will have it. This is true everywhere in Scotland, it’s just magnified in these small places,” said James Wilson, DPhil, FRCPE, Professor of Human Genetics at University of Edinburgh, who led the study on Viking genes that found individuals with familial ties to two small Scottish communities may be at a higher risk of having a cancer-causing gene.
Wilson hopes to see testing for these genetic abnormalities become more common for these at-risk communities.
“The Ashkenazi Jewish community have BRCA1 and BRCA2 variants that also have a frequency of about one in 40,” he told the BBC. “The Ashkenazi Jewish population in England are able to take part in genetic testing for these genes but that’s not yet the case in Scotland.”
The findings of the most recent University of Edinburgh genetic study are very new. Future developments and offerings from the NHS may be influenced by the results.
Deeper understanding about the genetic make-up of certain population subgroups could lead to new genetic personalized medicine and preventative testing for those at risk of hereditary cancer. In turn, it could also encourage individuals to seek preventative care earlier. Thus, pathologists and clinical laboratory managers should keep an eye on these developments and be prepared to work with geneticists who may develop new screening methods for BRCA1 and BRCA2.
Ongoing increases in the global number of prostate cancer cases expected to motivate test developers to deliver better screening tests to pathologists and clinical lab scientists
No less an authority than the peer-reviewed healthcare journal The Lancet is drawing attention to predictions of increasing prostate cancer cases across the globe, triggering calls for the development of cheaper, faster, and more accurate assays that pathologists and medical laboratories can use to screen for—and diagnose—prostate cancer.
Swift population growth and rising life expectancy will cause the prostate cancer death rate to nearly double in the next 20 years, according to a new study that has led scientists to call for immediate, critical improvements in clinical laboratory testing for cancer screening, Financial Times (FT) reported.
“Low- and middle-income countries need to prepare to prevent a sharp rise in fatalities while richer nations should pay more attention to young men at higher risk of the disease,” FT noted. The study, titled, “The Lancet Commission on Prostate Cancer: Planning for the Surge in Cases,” predicts cases will jump from 1.4 million in 2020 to 2.9 million by 2040.
“Prostate cancer is the most common cancer in men in 112 countries, and accounts for 15% of cancers. In this Commission, we report projections of prostate cancer cases in 2040 on the basis of data for demographic changes worldwide and rising life expectancy. … This surge in cases cannot be prevented by lifestyle changes or public health interventions alone, and governments need to prepare strategies to deal with it,” the study authors wrote.
“The findings in this Commission provide a pathway forward for healthcare providers and funders, public health bodies, research funders, governments, and the broader patient and clinical community,” the authors noted. In their Lancet paper, the researchers define clear areas for improvement.
Given the shortage worldwide of pathologists—especially highly-trained pathologists—the gap between the demand/need for expanded prostate cancer testing as screens (along with prostate biopsies) and the available supply of pathologists will encourage companies to develop screening and diagnostic tests that are accurate and automated, thus increasing the productivity of the available pathologists.
“As more and more men around the world live to middle and old age, there will be an inevitable rise in the number of prostate cancer cases. We know this surge in cases is coming, so we need to start planning and take action now,” said Nick James, PhD (above), Professor of Prostate and Bladder Cancer Research at The Institute of Cancer Research, in a press release. Pathologists and medical laboratories worldwide will want to monitor progress of The Lancet Commission’s recommendations. (Photo copyright: Institute of Cancer Research.)
“Evidence-based interventions, such as improved early detection and education programs, will help to save lives and prevent ill health from prostate cancer in the years to come. This is especially true for low- and middle-income countries (LMICs) which will bear the overwhelming brunt of future cases,” he said in a press release.
Communication is key. “Improved outreach programs are needed to better inform people of the key signs to look out for and what to do next,” James N’Dow, MD, Professor and Chair in Surgery and Director of the Academic Urology Unit at the University of Aberdeen in the UK, told the Financial Times. “Implementing these in tandem with investments in cost-effective early diagnostic systems will be key to preventing deaths,” he added.
Capitalizing on artificial intelligence (AI) analysis to help translate results was another area The Lancet Commission researchers focused on, Financial Times noted.
AI could “subdivide disease into potentially valuable additional subgroups to help with treatment selection. In environments with few or no pathologists, these changes could be transformational,” the study authors wrote.
High Income Countries (HICs) would benefit from AI by empowering patients. “Linking cloud-based records to artificial intelligence systems could allow access to context-sensitive, up-to-date advice for both patients and health professionals, and could be used to drive evidence-based change in all settings,” the study authors added. Such a trend could lead to specialist prostate cancer pathologists being referred cases from around the world as digital pathology systems become faster and less expensive.
Effective treatment strategies and bolstering areas of need is also key, the study notes. “Many LMICs have urgent need for expansion of radiotherapy and surgery services,” the study authors wrote. The researchers stress the need to immediately implement expansion programs to keep up with anticipated near-future demand.
Cancer drug therapy should follow suit.
“Research and the development of risk-stratified regulatory models need to be facilitated,” the study authors noted, citing a focus on drug repurposing and dose de-escalation. “Novel clinical trial designs, such as multi-arm platforms, should be supported and expanded,” they added.
Unique Needs of LMICs, HICs
The Lancet Commission researchers’ recommendations shift depending on the financial health of a specific area. HICs are experiencing a 30-year decline in the number of deaths resulting from prostate cancer, presumably from additional testing measures and public health campaigns that may be lacking in LMICs, Financial Times reported. And as population growth soars, low-to-middle income populations “will need to be prepared for the strain the expected surge in cases will put on health resources.”
For HICs, the study dissected the limitations of prostate-specific antigen (PSA) testing. The researchers pointed out that PSA’s inaccuracies in screening symptomless patients can pinpoint “cancers that may never cause symptoms and need no treatment,” Financial Times reported.
Missing high-risk cases was also a cause for concern. “Diagnostic pathways should be modified to facilitate early detection of prostate cancer while avoiding overdiagnosis and overtreatment of trivial disease,” the study notes.
Screenings for high-risk younger men, and continuing public campaigns about prostate cancer, should be a focus for HICs, the study authors noted. “These would include people who have a family history of the disease, are of African ancestry, or carry a genetic mutation known as BRCA2,” Financial Times reported.
While the undertaking may sound intimidating—there is already such a heavy impact worldwide from prostate cancer—the researchers are optimistic of their recommendations.
“Options to improve care are already available at moderate cost. We found that late diagnosis is widespread worldwide, but especially in LMICs, where it is the norm. Early diagnosis improves prognosis and outcomes, and reduces societal and individual costs, and we recommend changes to the diagnostic pathway that can be immediately implemented,” the study authors wrote.
What Comes Next
“More research is needed among various ethnic groups to expand understanding of prostate cancer beyond the findings from studies that were largely based on data from white men,” The Lancet Commission told the Financial Times.
Astute pathologists and medical laboratories will want to monitor efforts to develop assays that are inexpensive, more accurate, and produce faster answers. Demand for these tests will be substantial—both in developed and developing nations.
