Knowledge is Power
Why understanding your genetic cancer risk matters
Sixteen years after beating thyroid cancer at age 50, Debbie believed she was doing everything right. She never missed a follow-up appointment. She stayed on top of her mammograms and colonoscopies. She was determined to stay one step ahead of cancer.
Then her younger sister was diagnosed with breast cancer — and tested positive for a CHEK2 mutation, which increases the risk of breast cancer and several other cancers. Debbie decided to get tested too. When she learned she carried the same mutation, her doctors added breast MRI to her routine screening.
That decision likely saved her life.
Her mammogram looked normal. The MRI did not.
It revealed ductal carcinoma in situ — an early-stage breast cancer that had likely been present for years but had gone undetected. Debbie chose to undergo a double mastectomy, grateful the cancer was found before it spread.
“Had I not found out that I had a CHEK2 mutation, I probably wouldn’t have found the cancer until it had spread to other parts of my body,” she says.
Today, the impact of that single genetic test extends far beyond Debbie. Her sons, siblings, nieces and nephews have pursued testing. Those who carry the mutation now begin screenings earlier and more frequently — equipped with information that allows them to act, not react.
“Knowing they carry a CHEK2 mutation allows my family members to plan their next steps,” Debbie says. “It’s been life-changing.”
Sixteen years after beating thyroid cancer at age 50, Debbie believed she was doing everything right. She never missed a follow-up appointment. She stayed on top of her mammograms and colonoscopies. She was determined to stay one step ahead of cancer.
Then her younger sister was diagnosed with breast cancer — and tested positive for a CHEK2 mutation, which increases the risk of breast cancer and several other cancers. Debbie decided to get tested too. When she learned she carried the same mutation, her doctors added breast MRI to her routine screening.
That decision likely saved her life.
Her mammogram looked normal. The MRI did not.
It revealed ductal carcinoma in situ — an early-stage breast cancer that had likely been present for years but had gone undetected. Debbie chose to undergo a double mastectomy, grateful the cancer was found before it spread.
“Had I not found out that I had a CHEK2 mutation, I probably wouldn’t have found the cancer until it had spread to other parts of my body,” she says.
Today, the impact of that single genetic test extends far beyond Debbie. Her sons, siblings, nieces and nephews have pursued testing. Those who carry the mutation now begin screenings earlier and more frequently — equipped with information that allows them to act, not react.
“Knowing they carry a CHEK2 mutation allows my family members to plan their next steps,” Debbie says. “It’s been life-changing.”
Why genetic testing matters
Genetic testing like Debbie’s can identify inherited mutations that significantly increase cancer risk — often before cancer develops. Knowing whether someone carries a hereditary mutation allows doctors to tailor screening schedules, recommend preventive strategies and, in some cases, guide more targeted treatments. It also gives family members critical information about their own potential risk.
“Knowing your genetic predisposition is not about predicting fate,” says Christine Stanislaw, director of genetic counseling at Winship Cancer Institute of Emory University. “It is about planning for the future.”
Christine Stanislaw
Christine Stanislaw
How common is hereditary cancer?
Not all cancers are hereditary. In fact, most are not.
“We say roughly about 5% to 10% of cancers are hereditary,” Stanislaw says. “For ovarian cancer, it’s as high as 20% to 25%.”
That distinction matters. Hereditary genetic testing examines healthy cells — usually through a blood or saliva sample or a cheek swab — to look for mutations a person was born with. This differs from genomic testing performed on tumor tissue, which helps guide treatment decisions but does not necessarily indicate inherited risk.
“We expect tumors to have all sorts of mutations,” says Suzy Cahn, genetic counselor for Winship and Emory Decatur Hospital. “The question is: Were you born with one of those mutations, or did it develop only in the tumor cells? If it’s just in the tumor, it can affect treatment, but it wouldn’t impact future cancer risk or family members.”
Understanding that difference helps patients know what hereditary testing can — and cannot — tell them.
Suzy Cahn
Suzy Cahn
Who should consider testing?
Certain diagnoses immediately raise suspicion of a hereditary component. Everyone diagnosed with pancreatic adenocarcinoma or ovarian cancer, for example, meets national criteria for genetic testing. Breast, colorectal and endometrial cancers diagnosed at age 50 or younger also meet testing criteria, as does triple-negative breast cancer diagnosed at age 60 or younger.
Even people without cancer may consider testing if they have a strong family history. And sometimes healthy individuals — particularly those who are adopted or have limited family history information — pursue testing for clarity.
The testing looks for specific genes associated with inherited cancer risk. The most well-known are BRCA1 and BRCA2. “We’ve known about the breast and ovarian cancer risk associated with mutations in BRCA1/2 for a long time,” Cahn says. “But now we know these gene mutations also increase the risk for prostate cancer, pancreatic cancer and sometimes melanoma.”
Another relatively common hereditary condition is Lynch syndrome, which increases the risk of colorectal and endometrial cancers, as well as certain other gastrointestinal and ovarian cancers.
Importantly, testing is never automatic — even when criteria are met. Genetic counseling is an informed consent process.
“We explain why we’re thinking about it, what the potential results could mean for that person and their family,” Stanislaw says. “Ultimately, it’s up to the patient to decide.”
Some patients decline testing because they feel overwhelmed by a new diagnosis. Others worry about the emotional weight of learning additional risks.
“People cope with information differently,” says Fabienne Ehivet, lead genetic counselor at Emory Midtown, Emory Saint Joseph’s and Emory Johns Creek hospitals. “Some say, ‘How much testing can I have?’ Others say, ‘I don’t need to know more right now.’”
Fabienne Ehivet
Fabienne Ehivet
Understanding the results
Genetic test results typically fall into three categories: positive, negative or inconclusive.
A positive result identifies a mutation known to increase cancer risk and triggers specific screening and prevention recommendations. A negative result can be reassuring, although it may not fully explain a strong family history.
The third category — a variant of uncertain significance (VUS) — can be frustrating. “This is not an uncommon result,” Stanislaw says. “It means we found a change in a gene, but we don’t yet know whether it’s associated with cancer risk. We just have to sit with that uncertainty.”
Misconceptions are common. Some patients believe genetic testing will tell them whether they currently have cancer. “That’s not what we’re doing,” Stanislaw says. “We’re looking at cancer risk.”
A positive result does not guarantee someone will develop cancer. And a negative result does not eliminate the need for routine screening. After all, most cancers — 90% to 95% — are not hereditary.
That’s why reviewing results with a genetic counselor is critical. “We can explain why we’re thinking about offering testing and what the potential results could mean for that person and their family,” Stanislaw says. “Ultimately, it’s up to the patient to decide.”
Genetic test results typically fall into three categories: positive, negative or inconclusive.
A positive result identifies a mutation known to increase cancer risk and triggers specific screening and prevention recommendations. A negative result can be reassuring, although it may not fully explain a strong family history.
The third category — a variant of uncertain significance (VUS) — can be frustrating. “This is not an uncommon result,” Stanislaw says. “It means we found a change in a gene, but we don’t yet know whether it’s associated with cancer risk. We just have to sit with that uncertainty.”
Misconceptions are common. Some patients believe genetic testing will tell them whether they currently have cancer. “That’s not what we’re doing,” Stanislaw says. “We’re looking at cancer risk.”
A positive result does not guarantee someone will develop cancer. And a negative result does not eliminate the need for routine screening. After all, most cancers — 90% to 95% — are not hereditary.
That’s why reviewing results with a genetic counselor is critical. “We can explain why we’re thinking about offering testing and what the potential results could mean for that person and their family,” Stanislaw says. “Ultimately, it’s up to the patient to decide.”
How a positive result changes care
A positive result can feel overwhelming — but it can also be empowering.
“A lot of the genetic mutations associated with hereditary cancer increase the risk for more than one type of cancer,” Stanislaw says. “So it may alert us to something we weren’t previously watching for.”
In practical terms, that often means earlier screening, more frequent screening or additional types of surveillance. Someone with a BRCA1 or BRCA2 mutation, for example, may qualify for enhanced breast imaging, ovarian cancer risk management and, in some cases, pancreatic cancer screening.
Some patients may also consider risk-reducing surgery, such as preventive mastectomy or removal of the ovaries and fallopian tubes. These decisions are deeply personal and made after careful conversations about risks, benefits and timing.
At Winship, patients with hereditary mutations can be referred to specialized high-risk clinics focused on surveillance and prevention. “They will be followed closely, with all of their screenings coordinated through that clinic,” Cahn says. “It creates a medical home where patients have a team that understands their specific genetic risk.”
These clinics offer coordinated multidisciplinary care, updated prevention guidelines, family counseling, lifestyle education and access to research or clinical trials.
The goal is not just early detection. It’s prevention whenever possible — and long-term support tailored to each patient’s genetic profile.
A positive result can feel overwhelming — but it can also be empowering.
“A lot of the genetic mutations associated with hereditary cancer increase the risk for more than one type of cancer,” Stanislaw says. “So it may alert us to something we weren’t previously watching for.”
In practical terms, that often means earlier screening, more frequent screening or additional types of surveillance. Someone with a BRCA1 or BRCA2 mutation, for example, may qualify for enhanced breast imaging, ovarian cancer risk management and, in some cases, pancreatic cancer screening.
Some patients may also consider risk-reducing surgery, such as preventive mastectomy or removal of the ovaries and fallopian tubes. These decisions are deeply personal and made after careful conversations about risks, benefits and timing.
At Winship, patients with hereditary mutations can be referred to specialized high-risk clinics focused on surveillance and prevention. “They will be followed closely, with all of their screenings coordinated through that clinic,” Cahn says. “It creates a medical home where patients have a team that understands their specific genetic risk.”
These clinics offer coordinated multidisciplinary care, updated prevention guidelines, family counseling, lifestyle education and access to research or clinical trials.
The goal is not just early detection. It’s prevention whenever possible — and long-term support tailored to each patient’s genetic profile.
The family factor
For many people, genetic testing is not just personal — it’s generational.
With most hereditary cancer syndromes, first-degree relatives — parents, siblings, children — have up to a 50% chance of carrying the same mutation.
“This testing can help them know what to watch for and get on a screening plan that could catch something early — or even prevent it,” Cahn says. “We can change what the future looks like for that family.”
Insurance and cost
Some people are concerned about insurance discrimination if they test positive for a hereditary form of cancer. But federal protections under the Genetic Information Nondiscrimination Act (GINA) prevent medical insurers from using genetic information to deny coverage or raise premiums.
Life, long-term care and disability insurance are not covered under GINA, but many patients already have policies in place before testing. Genetic counselors discuss these considerations during pre-test education.
Genetic testing cost is another frequent concern. Fortunately, it is far less of a barrier than it once was. “In general, cost is less of a barrier than it used to be, especially for our affected cancer patients,” Cahn says.
Insurance often covers testing when national criteria are met, and many laboratories offer financial assistance programs or affordable self-pay options.
A growing role in personalized medicine
Genetic information is increasingly integrated into cancer care.
“We’re seeing more providers interested in including genetics in personalized treatment,” Ehivet says. “It’s definitely expanding to a larger population than we used to offer before.”
National guidelines are evolving. Many experts anticipate that hereditary testing will soon be recommended for nearly all patients with certain solid tumors, such as breast and colon cancer.
For referring physicians, the collaboration is seamless. Oncologists submit electronic referrals, often marking urgent cases when surgical decisions depend on genetic results. Genetic counselors are co-located within oncology clinics at several Emory hospitals, facilitating close communication and rapid turnaround.
“It’s very much a team approach,” Ehivet says.
Genetic information is increasingly integrated into cancer care.
“We’re seeing more providers interested in including genetics in personalized treatment,” Ehivet says. “It’s definitely expanding to a larger population than we used to offer before.”
National guidelines are evolving. Many experts anticipate that hereditary testing will soon be recommended for nearly all patients with certain solid tumors, such as breast and colon cancer.
For referring physicians, the collaboration is seamless. Oncologists submit electronic referrals, often marking urgent cases when surgical decisions depend on genetic results. Genetic counselors are co-located within oncology clinics at several Emory hospitals, facilitating close communication and rapid turnaround.
“It’s very much a team approach,” Ehivet says.
One message to remember
If there’s one takeaway the genetic counseling team emphasizes, it’s this: Don’t assume. Learn your family history. Share it with your providers. And if you have concerns, seek guidance before drawing conclusions.
“Before doing genetic testing, it’s a good idea to meet with a genetic counselor,” Ehivet says. “Find out if you really need it and how to use that information.”
For Stanislaw, the bottom line is simple. “It can give great information and help prevent cancers for patients and their family members down the line,” she says.
In a field where early detection saves lives and prevention is often possible, knowledge isn’t just power — it’s protection.
Martha Nolan is a writer/editor for Emory Healthcare.
Designed by Linda Dobson
Illustration by Matt Chinworth
Photography by Jenni Girtman
If there’s one takeaway the genetic counseling team emphasizes, it’s this: Don’t assume. Learn your family history. Share it with your providers. And if you have concerns, seek guidance before drawing conclusions.
“Before doing genetic testing, it’s a good idea to meet with a genetic counselor,” Ehivet says. “Find out if you really need it and how to use that information.”
For Stanislaw, the bottom line is simple. “It can give great information and help prevent cancers for patients and their family members down the line,” she says.
In a field where early detection saves lives and prevention is often possible, knowledge isn’t just power — it’s protection.
Martha Nolan is a writer/editor for Emory Healthcare.
Designed by Linda Dobson
Illustration by Matt Chinworth
Photography by Jenni Girtman
If you have a family history of cancer, Winship's genetic counselors can help you assess your risk for cancer. Please call 404-778-3685 to request a referral with one of our genetic counselors.
Advancing the fight against pancreatic cancer
There was much excitement at the recent ASCO (American Society of Clinical Oncology) conference, in Chicago, when the drug daraxonrasib was reported to have significantly improved survival for individuals with advanced pancreatic cancer.
Olatunji Alesse, medical oncologist and director of GI Oncology at Winship Cancer Institute of Emory University, says daraxonasib “is in a class of its own in terms of a remarkable improvement over existing chemotherapy options.” He adds, however, that Winship is testing similar drugs that “could be even more powerful and safer to use in terms of fewer side effects.”
The need for better treatment options couldn’t be more stark: Pancreatic cancer has an overall five-year survival rate of roughly 12% to 13%. Many patients are diagnosed late because early symptoms are vague or easily dismissed — a little indigestion, mild abdominal discomfort, what feels like heartburn. By the time imaging is done and the cancer is discovered, it is often already advanced.
Unlike breast cancer or colon cancer, there is no widely accepted, population-based screening test. The pancreas sits deep within the abdomen, making early tumors difficult to detect with routine imaging. Efforts to develop broad screening tools have not yet produced a test sensitive and specific enough for average-risk individuals.
Even when pancreatic cancer is found early — sometimes incidentally after a scan for an unrelated issue — treatment is intensive. Patients may undergo major surgery, chemotherapy and sometimes radiation. Yet recurrence rates remain high, with 70% to 80% of patients eventually developing metastatic disease. For those diagnosed with Stage 4 disease, median survival is often measured in months.
“Historically, pancreatic cancer has been known as the graveyard of drug development,” Alese says. “Treatments that work in other cancers often fall short here.”
Targeting genetics to change outcomes
One key area of focus at Winship is genetics.
While only about 10% to 15% of pancreatic cancers are linked to inherited mutations, identifying those patients can be critical. Mutations in genes such as BRCA1 and BRCA2 — commonly associated with breast and ovarian cancer — also increase pancreatic cancer risk. Other inherited syndromes, including Lynch syndrome (DNA mismatch repair mutations), Peutz-Jeghers syndrome (STK11 mutations) and Li-Fraumeni syndrome (TP53 mutations), can significantly elevate lifetime risk, in some cases up to 45%.
For high-risk individuals, intensive surveillance with MRI and endoscopic ultrasound can sometimes detect tumors at earlier, more treatable stages. Surgery offers the only potential for cure, and patients diagnosed through surveillance have a greater chance of reaching that window.
Interestingly, some of the same genetic abnormalities that increase cancer risk can also create treatment opportunities. For example, tumors associated with mismatch repair deficiency — as seen in Lynch syndrome — may respond exceptionally well to immunotherapy.
“When those individuals are treated with approved immunotherapy, they can have a very long life expectancy, even with metastatic disease,” Alese explains.
Translational research and clinical trials
Alese works closely with Gregory Lesinski, co-director of GI Translational Research at Emory, bridging laboratory science and clinical care. Together, they focus on developing new therapies that exploit genetic vulnerabilities within pancreatic tumors.
Earlier this year, their team published results from a Phase 1b/2 clinical trial combining a heat shock protein inhibitor called XL888 with the immunotherapy drug pembrolizumab. While the combination did not produce enough tumor shrinkage needed to advance to a larger Phase III trial, the study yielded valuable insights into how pancreatic tumors evade the immune system.
“We learned a lot about the molecular signatures of tumors in patients whose cancer progressed versus those whose disease remained stable,” Alese says. “That translational work will help us design smarter trials moving forward.”
For Alese, the ultimate goal is precision medicine, treatments tailored to both the tumor’s genetic makeup and the patient’s immune system. “The more we know about the genetic composition of pancreatic cancer, the better we can come up with effective treatment options,” he says.
Looking ahead: Blood-based screening and hope
One of the most promising frontiers is blood-based screening using circulating tumor DNA. Researchers hope that, over time, these tests will become sensitive enough to detect pancreatic cancer at its earliest stages. Such tools could identify higher-risk individuals who would then undergo targeted imaging with MRI and endoscopic ultrasound.
“If we can use a simple blood test during routine primary care visits to identify patients at higher-than-average risk, we can intervene earlier,” Alese says.
He points to other cancers that once had similarly grim outlooks. Before immunotherapy, metastatic melanoma was almost uniformly fatal. Today, many patients live for years — even decades — after diagnosis.
“There’s no doubt in my mind that we will get there with pancreatic cancer,” Alese says. “But the road to discovery means learning more and more about the genetic composition of these tumors.”
With pancreatic cancer rates rising and projected to become one of the leading causes of cancer-related deaths, Alese believes increased awareness, advocacy and research funding are essential.
“Awareness is growing,” he says. “What we need now is sustained support — because progress is possible.”
Olatunji Alese
Olatunji Alese
Advancing the Fight Against Pancreatic Cancer
There was much excitement at the recent ASCO (American Society of Clinical Oncology) conference, in Chicago, when the drug daraxonrasib was reported to have significantly improved survival for individuals with advanced pancreatic cancer.
Olatunji Alesse, medical oncologist and director of GI Oncology at Winship Cancer Institute of Emory University, says daraxonasib “is in a class of its own in terms of a remarkable improvement over existing chemotherapy options.” He adds, however, that Winship is testing similar drugs that “could be even more powerful and safer to use in terms of fewer side effects.”
The need for better treatment options couldn’t be more stark: Pancreatic cancer has an overall five-year survival rate of roughly 12% to 13%. Many patients are diagnosed late because early symptoms are vague or easily dismissed — a little indigestion, mild abdominal discomfort, what feels like heartburn. By the time imaging is done and the cancer is discovered, it is often already advanced.
Unlike breast cancer or colon cancer, there is no widely accepted, population-based screening test. The pancreas sits deep within the abdomen, making early tumors difficult to detect with routine imaging. Efforts to develop broad screening tools have not yet produced a test sensitive and specific enough for average-risk individuals.
Even when pancreatic cancer is found early — sometimes incidentally after a scan for an unrelated issue — treatment is intensive. Patients may undergo major surgery, chemotherapy and sometimes radiation. Yet recurrence rates remain high, with 70% to 80% of patients eventually developing metastatic disease. For those diagnosed with Stage 4 disease, median survival is often measured in months.
“Historically, pancreatic cancer has been known as the graveyard of drug development,” Alese says. “Treatments that work in other cancers often fall short here.”
Targeting genetics to change outcomes
One key area of focus at Winship is genetics.
While only about 10% to 15% of pancreatic cancers are linked to inherited mutations, identifying those patients can be critical. Mutations in genes such as BRCA1 and BRCA2 — commonly associated with breast and ovarian cancer — also increase pancreatic cancer risk. Other inherited syndromes, including Lynch syndrome (DNA mismatch repair mutations), Peutz-Jeghers syndrome (STK11 mutations) and Li-Fraumeni syndrome (TP53 mutations), can significantly elevate lifetime risk, in some cases up to 45%.
For high-risk individuals, intensive surveillance with MRI and endoscopic ultrasound can sometimes detect tumors at earlier, more treatable stages. Surgery offers the only potential for cure, and patients diagnosed through surveillance have a greater chance of reaching that window.
Interestingly, some of the same genetic abnormalities that increase cancer risk can also create treatment opportunities. For example, tumors associated with mismatch repair deficiency — as seen in Lynch syndrome — may respond exceptionally well to immunotherapy.
“When those individuals are treated with approved immunotherapy, they can have a very long life expectancy, even with metastatic disease,” Alese explains.
Translational research and clinical trials
Alese works closely with Gregory Lesinski, co-director of GI Translational Research at Emory, bridging laboratory science and clinical care. Together, they focus on developing new therapies that exploit genetic vulnerabilities within pancreatic tumors.
Earlier this year, their team published results from a Phase 1b/2 clinical trial combining a heat shock protein inhibitor called XL888 with the immunotherapy drug pembrolizumab. While the combination did not produce enough tumor shrinkage needed to advance to a larger Phase III trial, the study yielded valuable insights into how pancreatic tumors evade the immune system.
“We learned a lot about the molecular signatures of tumors in patients whose cancer progressed versus those whose disease remained stable,” Alese says. “That translational work will help us design smarter trials moving forward.”
For Alese, the ultimate goal is precision medicine, treatments tailored to both the tumor’s genetic makeup and the patient’s immune system. “The more we know about the genetic composition of pancreatic cancer, the better we can come up with effective treatment options,” he says.
Looking ahead: Blood-based screening and hope
One of the most promising frontiers is blood-based screening using circulating tumor DNA. Researchers hope that, over time, these tests will become sensitive enough to detect pancreatic cancer at its earliest stages. Such tools could identify higher-risk individuals who would then undergo targeted imaging with MRI and endoscopic ultrasound.
“If we can use a simple blood test during routine primary care visits to identify patients at higher-than-average risk, we can intervene earlier,” Alese says.
He points to other cancers that once had similarly grim outlooks. Before immunotherapy, metastatic melanoma was almost uniformly fatal. Today, many patients live for years — even decades — after diagnosis.
“There’s no doubt in my mind that we will get there with pancreatic cancer,” Alese says. “But the road to discovery means learning more and more about the genetic composition of these tumors.”
With pancreatic cancer rates rising and projected to become one of the leading causes of cancer-related deaths, Alese believes increased awareness, advocacy and research funding are essential.
“Awareness is growing,” he says. “What we need now is sustained support — because progress is possible.”
How big data is making genetic testing smarter — and more personal
If “big data” sounds abstract, its impact on patients is anything but. At Winship Cancer Institute of Emory University, the power of large, global data sets ultimately comes down to a simple but profound idea: evidence gathered from millions of people can help guide care for one individual sitting in an exam room.
Over decades, researchers around the world have collected and analyzed genomic information, clinical outcomes, family histories and treatment responses from vast numbers of patients. Those findings are published in peer-reviewed journals, incorporated into professional guidelines and embedded in the reports clinicians receive when they order genetic testing.
“When a patient’s sample is sent for genetic testing, the report that comes back is not created in isolation,” says Madhu Behera, chief data and informatics officer and associate director of data and informatics at Winship, as well as Emory University’s chief research informatics officer. “It reflects years of accumulated evidence linking specific genetic variants to cancer risk.”
“Heavy lifting” is already done
In practical terms, that means a Winship clinician does not need to be a data scientist to apply big data. The heavy lifting — analyzing millions of data points to determine whether a specific genetic variant is benign, uncertain or clearly associated with increased cancer risk — has already been done behind the scenes by the global research community.
But translating evidence into care still requires clinical judgment. At Winship, genetic test results are interpreted in context:
- The patient’s personal medical history
- Their family history of cancer
- Their age and overall health
- Established risk models and professional guidelines
A single genetic finding can carry different implications depending on the individual. For someone with a strong family history of breast or ovarian cancer, a known high-risk variant may prompt enhanced screening, earlier imaging, preventive medications or even consideration of risk-reducing surgery. For another person, the same variant may lead primarily to more vigilant monitoring.
“All of the decision-making we do is grounded in evidence that has come from large-scale data,” Behera says. “You’re taking what we’ve learned from millions of patients and applying it carefully to one person.”
Using big data to personalize treatment
Winship’s multidisciplinary approach adds another layer of personalization. Complex or rare cases can be reviewed by tumor boards that bring together oncologists, genetic counselors, surgeons, radiologists and other specialists. If published evidence does not provide clear guidance, the team can weigh additional factors and, in some cases, consider clinical trials or advanced molecular testing.
Importantly, big data informs more than treatment. It shapes prevention and screening strategies as well. “Knowing genetic risk isn’t just about reacting to disease,” Behera notes. “It’s about prevention and early detection. The data help us guide patients before cancer develops, not just after.”
In this way, big data functions as a continuously expanding knowledge base. As more patients undergo genetic testing and as long-term outcomes are tracked, the understanding of risk becomes more refined. Variants once considered uncertain may later be reclassified as clearly harmful — or clearly harmless — based on accumulating evidence.
“That’s the evolution,” Behera says. “Forty years ago, we didn’t know what we know now. And 20 years from now, we’ll know even more. Every patient added to the system adds to our knowledge.”
Behind every personalized recommendation is a global effort — decades of research, collaboration and data sharing. For patients at Winship, that means their care is informed not only by the expertise in front of them, but also by the collective experience of millions who came before them.
Madhu Behera
Madhu Behera
How big data is making genetic testing smarter — and more personal
If “big data” sounds abstract, its impact on patients is anything but. At Winship Cancer Institute of Emory University, the power of large, global data sets ultimately comes down to a simple but profound idea: evidence gathered from millions of people can help guide care for one individual sitting in an exam room.
Over decades, researchers around the world have collected and analyzed genomic information, clinical outcomes, family histories and treatment responses from vast numbers of patients. Those findings are published in peer-reviewed journals, incorporated into professional guidelines and embedded in the reports clinicians receive when they order genetic testing.
“When a patient’s sample is sent for genetic testing, the report that comes back is not created in isolation,” says Madhu Behera, chief data and informatics officer and associate director of data and informatics at Winship, as well as Emory University’s chief research informatics officer. “It reflects years of accumulated evidence linking specific genetic variants to cancer risk.”
“Heavy lifting” is already done
In practical terms, that means a Winship clinician does not need to be a data scientist to apply big data. The heavy lifting — analyzing millions of data points to determine whether a specific genetic variant is benign, uncertain or clearly associated with increased cancer risk — has already been done behind the scenes by the global research community.
But translating evidence into care still requires clinical judgment. At Winship, genetic test results are interpreted in context:
- The patient’s personal medical history
- Their family history of cancer
- Their age and overall health
- Established risk models and professional guidelines
A single genetic finding can carry different implications depending on the individual. For someone with a strong family history of breast or ovarian cancer, a known high-risk variant may prompt enhanced screening, earlier imaging, preventive medications or even consideration of risk-reducing surgery. For another person, the same variant may lead primarily to more vigilant monitoring.
“All of the decision-making we do is grounded in evidence that has come from large-scale data,” Behera says. “You’re taking what we’ve learned from millions of patients and applying it carefully to one person.”
Using big data to personalize treatment
Winship’s multidisciplinary approach adds another layer of personalization. Complex or rare cases can be reviewed by tumor boards that bring together oncologists, genetic counselors, surgeons, radiologists and other specialists. If published evidence does not provide clear guidance, the team can weigh additional factors and, in some cases, consider clinical trials or advanced molecular testing.
Importantly, big data informs more than treatment. It shapes prevention and screening strategies as well. “Knowing genetic risk isn’t just about reacting to disease,” Behera notes. “It’s about prevention and early detection. The data help us guide patients before cancer develops, not just after.”
In this way, big data functions as a continuously expanding knowledge base. As more patients undergo genetic testing and as long-term outcomes are tracked, the understanding of risk becomes more refined. Variants once considered uncertain may later be reclassified as clearly harmful — or clearly harmless — based on accumulating evidence.
“That’s the evolution,” Behera says. “Forty years ago, we didn’t know what we know now. And 20 years from now, we’ll know even more. Every patient added to the system adds to our knowledge.”
Behind every personalized recommendation is a global effort — decades of research, collaboration and data sharing. For patients at Winship, that means their care is informed not only by the expertise in front of them, but also by the collective experience of millions who came before them.
Care tailored to your needs
Care for patients with cancer at Winship includes leading cancer specialists collaborating across disciplines to tailor treatment plans to each patient’s needs; innovative therapies and clinical trials; comprehensive patient and family support services; and a care experience aimed at easing the burden of cancer.
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