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Mon, Oct 29 8:00am · BEAUTY trial charts an individualized path to breast cancer treatment

Article by Julie Janovsky Mason

Watch Elena’s story here:


Elena Blevins and her grandchildren

Six years ago, Elena Blevins discovered a lump on her right breast as she was getting dressed.

“At first I thought it was cyst,” she says, initially dismissing the lump as she focused on her job and family. After several months, she became increasingly tired. And the lump appeared to get larger and harder.

At the urging of her daughter, Elena, who is a member of the Tohono O’odham Nation, scheduled an appointment with Indian Health Service at Phoenix Indian Medical Center (PIMC). It would be the first of a series of medical appointments that would bring medical experts from Phoenix Indian Medical Center and Mayo Clinic together to coordinate Elena’s care.


A coordinated approach

A mammogram and biopsy at PIMC revealed Elena had triple-negative breast cancer – an aggressive form of the disease that often is challenging to treat.

Donald Northfelt, M.D.

“We recognized immediately that Elena had a serious breast cancer problem that needed immediate attention,”  Donald Northfelt, M.D., associate medical director of Mayo Clinic’s Breast Clinic, says of Elena’s diagnosis.
“Triple negative is a form of breast cancer in which there is no expression of estrogen receptor, no expression of progesterone receptor and no overexpression of the HER2 [human epidermal growth factor receptor 2] protein,” he explains. “Because none of these proteins are expressed in the cancer, we are lacking specific targets for that type of cancer.”

Elena, a home health aide, was at work when she learned the news.

“I hung up the phone and finished up my shift,” she says. “I don’t know how I was able to maintain it. I had maybe another half hour to go until my shift was over. I didn’t tell my client anything. I told her, ‘I will see you tomorrow.'”

Elena burst into tears once she got into her car.

When she arrived home, she told her daughter first. Then she sat down with her son, who was only 12 at the time. Friends and family started arriving at her home as the news spread. “Everyone was crying,” Elena says. “It was very traumatic.”

The Mayo Clinic and Phoenix Indian Medical Center teams felt Elena would be a good candidate for a clinical trial at Mayo as part of her overall treatment plan.


A Pivotal Clinical Trial

Elena recalls that her care team explained to her that she qualified to be part of a clinical trial and what it would entail. She liked the fact participating in a clinical trial potentially could help other women with this type of cancer.

“I thought if I could help people and the clinical trial could help me, it was a win-win,” she says. So Elena continued her cancer treatment at Mayo Clinic’s Arizona campus and was enrolled into the Breast Cancer Genome Guided Therapy, or BEAUTY, study which was sponsored by the Mayo Clinic Center for Individualized Medicine.

The BEAUTY trial employed a very sophisticated genetic and molecular analysis to help us understand the nature of Elena’s cancer and make a better plan for her treatment,” says Dr. Northfelt, one of the researchers on the trial.

As part of her treatment protocol, Elena received several months of preoperative chemotherapy, and it shrank her tumor. Then Elena had a lumpectomy at Mayo Clinic, performed by surgeon Richard Gray, M.D., who was also a researcher on the clinical trial. The area of the original tumor was removed and lymph nodes were extracted from her armpit for testing.

“We were grateful at the time of her surgery to find out all the cancer had disappeared from her breast, which was our goal and our hope,” Dr. Northfelt says. Elena then received conventional postoperative whole-breast radiation therapy to complete her care.

Elena has been cancer-free for more than five years. She credits her strong faith and the support of her family and friends for helping her get through. She’s thankful that she had access to the clinical trial and is grateful to her care teams at Mayo Clinic and Phoenix Indian Medical Center.

“It was a true blessing to have people care about me so much,” Elena says of having two care teams. “It was a huge team. It was like a big family.”

October is Breast Cancer Awareness Month, a time to call attention to this type of cancer, which affects 1 in 8 American women. Mayo Clinic Center for Individualized Medicine, along with colleagues within the Mayo Clinic Cancer Center, are researching new, individualized ways to detect and treat breast cancer early, when it is most curable.


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Coverage from the 2018 Individualizing Medicine Conference:



Tue, Oct 23 8:30am · Mayo Clinic research combines genetics and psychiatry to seek biomarkers for precise alcohol abuse therapies

Mayo Clinic research is bringing together knowledge of psychiatry, genetics, metabolomics, pharmacogenomics and artificial intelligence to seek biological markers associated with alcohol use disorder and treatment response. Finding the molecular drivers of alcohol use disorder commonly known as alcoholism, could help predict who is most likely to develop this disorder and who might respond to medications approved for treatment. It might also reveal insights into new medications when standard drugs don’t work and could guide health care providers to precise treatments.

Victor Karpyak, M.D., Ph.D.

“Alcohol use disorder is one of the most prominent mental health problems in the world, second only to depression in terms of burden of disease,” says Victor Karpyak, M.D., Ph.D., a Mayo Clinic psychiatrist, co-principal investigator and leader of the integrated study team. “Only about 10 percent of those with alcohol use disorder seek therapeutic help. We believe that’s because people don’t expect medications to be efficient and helpful in treatment, which is unfortunate and factually incorrect.”

The Food and Drug Administration has approved three medications for treatment of alcohol use disorder. However, they don’t work for everyone. There are no known biomarkers that reliably predict which patients would be good candidates for these therapies.

“Tragically, there are some people who have biological characteristics which make them more susceptible to  alcoholism. What we’d like to do is better understand the genetic and molecular underpinnings of this susceptibility, so we can understand drug response and take an individualized approach to helping these patients overcome alcohol use disorder,” says Richard Weinshilboum, M.D., one of the researchers involved in this project and co-director of the Mayo Clinic Center for Individualized Medicine Pharmacogenomics program.

In a team science approach, Mayo Clinic will launch a coordinated study in conjunction with and funded by two National Institute on Alcohol Abuse and Alcoholism grants. The study will focus on the search for genetic markers of response to the drug acamprosate, which has been shown to help alcoholics stay sober.

“For some of our patients, the medicine known as acamprosate is a remarkably effective supplement to the clinical therapy and peer support, helping to curb cravings during and after treatment,” says Marvin D. Seppala, M.D., chief medical officer of the Hazelden Betty Ford Foundation, which is collaborating on the study. “Unfortunately, we have no idea who it will work for and who it won’t, so we just provide it to patients and hope that it helps.”

The five-year study expands previous pharmacogenetic research completed by the Mayo Clinic Department of Psychiatry by scanning the entire genome and metabolome in search for biological markers — clues to disease cause and treatment.

“Knowledge of the biology of alcohol use disorder and response to medication may allow us to zero down on meaningful molecular targets and see how we can intervene with genetic manipulations or new medications to reduce a person’s vulnerability to this disease,” says Dr. Karpyak.

Applying pharmacogenetics for an individualized treatment approach on a large scale

Researchers will follow 800 people receiving care for alcohol use disorder through Mayo Clinic affiliates as well as at the Hazelden Betty Ford Ford Foundation’s residential treatment facility in Center City, Minnesota. Study participants will have genetic testing to identify variants to help predict their response to the use of acamprosate or placebo.

The study will then combine pharmacogenomics — how the body processes and responds to medication — and metabolomics — small molecules known as metabolites that interact in the body — to try to better understand why the drug works for some but not others.

Richard Weinshilboum, M.D.

“We will look at the metabolites in their blood and bring together metabolomics with genomics. We hope that using the drug as a molecular probe will help us determine if there are different genes that might affect how each individual responds to anti-alcohol therapy,” says Dr. Weinshilboum, co-principal investigator of this study. “When we have used this approach before for psychiatric diseases like depression, we identified genes that we had never heard of before that appeared to be related to drug response, and then we used artificial intelligence and machine learning techniques to incorporate that information into a predictive algorithm.”

Researchers hope that if they find new genes linked to alcoholism treatment response, they might be able to identify new therapies compatible with a patient’s genetic fingerprint. That’s important in part because alcohol use disorder is linked to a number of other mental health conditions as well as conditions such as fetal alcohol spectrum disorders, hypertension, cardiovascular diseases, type 2 diabetes and liver cirrhosis.

This study  reflects many years of collaborative work and support between the Mayo Clinic Department of Psychiatry and Psychology, the Mayo Clinic Center for Individualized Medicine Pharmacogenomics Program, and the Samuel C. Johnson Genomics of Addiction Program.

Beside Dr. Karpyak and Dr. Weinshilboum, the study team includes:
Joanna Biernacka, Ph.D., co-principal investigator
Doo-Sup Choi, Ph.D., co-principal investigator
Mark Frye, M.D. chair, Mayo Clinic Department of Psychiatry and Psychology

The research team would like to give special recognition to the late David Mrazek, M.D., upon whose pioneering work this study builds.




If you’d like to learn more about pharmacogenomics and its broader applications, Dr. Weinshilboum will be a featured speaker at “Drugs & Genes: Pharmacogenomics for the Modern Health Care Team, Nov. 30 – Dec. 1, 2018 in Arizona. Sponsored by the Center for Individualized Medicine, “Drugs & Genes” will be held at the Scottsdale Marriott in Scottsdale, Arizona.




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Coverage from the 2018 Individualizing Medicine Conference:

Wed, Oct 10 8:39am · The right diet for you... or for your gut microbes?


Article by Sara Tiner

The right diet, obesity and gut health are topics patients, clinicians and scientists wrestle with every day. We want to eat a good diet and lose weight or avoid weight gain, so our health span matches our life span.

But statistics suggest we struggle.

To help, scientists are examining how food, our gut, and our weight are related. Purna Kashyap, M.B.B.S. moderated a break out session on personalized nutrition at the Individualizing Medicine Conference 2018,

Purna Kashyap, M.B.B.S.

during which those examinations led to three conclusions that may change the way we look at our food, our gut and our weight loss plans:

  • The environment inside our gut is governed by the same rules as the environment outside the body.


The rules that ecologists have discovered in the natural world hold sway in our gut, too. According to Jens Walter, Ph.D., of the University of Alberta in Canada, while our gut microbes can change, the pattern of change is predictable. For example, where microbes roam (dispersal) and how they win their territory (selection) in the gut, follow the same rules as seeds dispersing from a plant or two seed-eating birds competing for a common food source. This knowledge can help researchers cut through the variation between individuals to understand the underlying similarities in our gut ecosystem.

  • Yo-Yo dieting may be due to a memory of famine in our gut microbes.


While science often examines what leads to obesity, patients are often already there. We typically need to lose weight and keep it off for health reasons. But keeping weight off is difficult and researcher Christoph Thaiss, Ph.D., of the University of Pennsylvania wanted to know why. In a series of mouse experiments he and his team replicated yo-yo dieting and discovered that the microbiome remembers feast and famine, and adjusts accordingly. After weight loss, when mice were given a high-fat diet, they regained more weight faster than they had in the first round of weight gain. The researchers then delved into the specifics of what changed in a post-obesity mouse gut and identified two molecules that were lost: apigenin and naringenin. These plant-derived flavonoids are associated with the tendency to maintain a low weight over time, says Dr. Thaiss, and when mice were supplemented with both in their diet, the mice were able to “forget” the period of obesity and avoid regaining weight. Dr. Thaiss explained that one theory is that this mechanism might be an evolutionary response to fluctuating environmental conditions. In forthcoming research, Dr. Thaiss is examining this effect in humans.

  • Eating food your gut microbes want can help keep blood glucose levels stable.


Humans have been in pursuit of the best diet ever since we had a choice in the matter. But despite a long and vigorous effort, the best diet eludes researchers, said Tali Raveh-Sadka, Ph.D., director of research at DayTwo. The company is one of a few new ventures that gather data from consumers, digest it in a computer algorithm, and report back personalized food recommendations. When participants in one trial were fitted with a continuous glucose monitor, the variety of responses was high. One person’s blood sugar spiked when consuming a banana but not a cookie, explained Dr. Raveh-Sadka, but another participant had the opposite response. The researchers found that when participants ate the “good for their microbiome” diet, their microbiome shifted and their blood sugar readings remained stable.


Mayo Clinic Center for Individualized Medicine sponsored the conference, which was held Sept. 12-13 in Rochester.



More conference-related highlights



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Thu, Sep 13 5:00pm · CIM Con day two: Unlocking the mystery of rare diseases

The Human Genome Project the first mapping of a person’s genetic blueprint has unlocked mysteries of rare diseases that for ages bewildered medical science. Completed just 15 years ago, the Human Genome Project has ushered in a new era of individualized medicine. That has significantly advanced the ability to diagnose rare diseases, many of which are caused by genetic variants. New tools for understanding and solving the puzzle of rare genetic diseases is one of the topics featured at the 2018 “Individualizing Medicine: Advancing Care Through Genomics” conference.

Mayo Clinic Center for Individualized Medicine is hosting the conference at the Mayo Civic Center in Rochester.

Mayo Clinic has a team of experts, known as the Genomic Odyssey Board, that works to solve rare disorders from around the world. DNA testing offers a genetic trail of clues that sometimes leads researchers and clinicians to a scientific pot of gold: a new diagnosis that no one else has been able to make. Even if there’s not a treatment, having a diagnosis can be life changing. Patients can stop spending time and money visiting countless health care providers in search of answers.

Mayo Clinic has been able to diagnose approximately 30 percent of patients with unexplained genetic disorders. The Genomic Odyssey Board would like to close the gap on the other 70 percent of cases that go unsolved, and advancements in tools offer hope for a better success rate.

Dr. Heidi Rehm: Data sharing brings new answers

The promise of DNA sequencing also brings the challenge of interpreting big data. Consider this: sequencing one patient’s genome generates data so massive that if stacked end-to-end, it would reach from earth to the moon. Finding disease-related genetic variants within those results can be like looking for a needle in a haystack.

Heidi Rehm, Ph.D., a geneticist and genomic medicine researcher at the Broad Institute and Chief Genomics Officer at Massachusetts’s General Hospital and Professor of Pathology and Harvard Medical School, called for broader knowledge sharing of disease-related variants in order to zero in on disease-causing genes.

Dr. Rehm, who presented at a Thursday afternoon plenary session, said databases where researchers and clinicians share information about genetic variants, interpretations and evidence linking genes to specific health care disorders, have greatly advanced understanding of rare, genetic diseases.

Heidi Rehm, Ph.D.

“It’s a combination of crowd sourcing the challenge, sharing the evidence, identifying when we might view evidence differently, and validating the findings,” says Dr. Rehm. “If we’re really going to integrate genetics into the practice of medicine, we need to ensure that the information we are returning to patients is valuable and accurate. We need resource sharing across the community to do that.”

Dr. Rehm identified three key genomic data sharing sites that are improving the diagnosis rate for patients:

  • ClinVar – a variant database where laboratories and research groups share interpretations of rare disease-related variants.
  • ClinGen – a large NIH program that develops standards and assembles experts to compile and review evidence and for assessing the role of genes and varaints in disease.
  • Matchmaker Exchange – a platform for building evidence for genes implicated, but not proven to be linked to disease.

Information from data sharing sites helped establish best practices in genetic and genomic testing, leading to more reliable and consistent results.

“This means patients are more likely to have their disease-causing variants identified as causal rather than classified as a variant of uncertain significance. As a result, they are more likely to get an accurate and consistent diagnosis that stands up to testing from multiple labs,” says Dr. Rehm.

Dr. Eric Klee: New tools and new technology on the horizon

Mayo Clinic is developing computer software that would analyze genetic data from unsolved cases in which the trail has gone cold. The software program would send alerts when new research reveals understanding of a gene that could crack a case.

Eric Klee, Ph.D., associate director of the Mayo Clinic Center for Individualized Medicine Bioinformatics program, envisions a tool that would constantly update former variants of unknown significance, going back to the very first unsolved cases analyzed five or six years ago.

Eric Klee, Ph.D.

“We are in a unique timeframe in the history of mankind in that we are learning exponentially more all the time about genetic disease. What we know today is so drastically different from what we knew even a year ago,” says Dr. Klee. “Tools that allow us to automatically go back and analyze cases in terms of new knowledge are going to be very important.”

Dr. Klee, who led a conference session on rare diseases, also envisions new tools that would broaden data sharing to include both genotype (genetics) and phenotype (visible characteristics such height, eye color, overall health status and disease history) in a centralized, worldwide database.

“That unleashes the power of experts from around the world to solve rare cases rather than just from one institution,” says Dr. Klee. “The ability to learn and diagnose would be significantly improved.”

On the technology side, Dr. Klee predicts whole genome sequencing which covers all a person’s DNA will replace the current practice of sequencing only the known disease causing genes. That will give investigators additional information on how changes within the genetic blueprint might be causing disease. He believes RNA sequencing, which reveals defects within the genes, will also be increasingly used. That may offer more options to patients who’ve suffered years with unknown conditions.

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Additional coverage:

Precision cancer: ‘so much power’

6 ways individualized medicine in advancing patient care

Mayo Clinic Minute: What is the microbiome and how does it affect your weight?


Wed, Sep 12 4:30pm · CIM CON day 1 - Precision cancer care: 'So much power'

Article by Barbara Toman

Individualizing Medicine Conference 2018

Unlocking the secrets of the genetic blueprint may hold the key to both detecting and effectively treating cancer. Researchers from around the world are discussing new ways to diagnose and treat cancer at the Individualizing Medicine Conference: Advancing Care through Genomics, which started today. The Mayo Clinic Center for Individualized Medicine (CIM) is hosting the conference this week at the Mayo Civic Center in Rochester, Minnesota.

Specific topics include a novel treatment that harnesses the power of the immune system to attack cancer, and two types of testing to uncover the unique genetic makeup of an individual’s tumor. Three conference speakers outline these developments.

Weaponizing the immune system

The name is complicated — chimeric antigen receptor (CAR) T-cell therapy — but the idea behind this new cancer treatment is straightforward. Cells in the immune system, known as T- cells, are genetically modified to equip them to recognize and destroy cancer cells.

Yi Lin, M.D., Ph.D.

“We’ve seen very impressive results. CAR T-cell therapy is a living drug that relies on the innate ability of the patients’ own immune cells to sense what’s around them and to respond,” says Yi Lin, M.D., Ph.D., chair of the Cellular Therapeutics Cross-Disciplinary Group in the Mayo Clinic Cancer Center, who spoke this morning as one of the conference’s main speakers. “These cells are a smart and living drug, and we hope they can last a long time in a patient’s body and have a durable effect.”

CAR T-cell therapy was approved by the Food and Drug Administration last year to treat two types of blood cancer — relapsed B-cell acute lymphoblastic leukemia and relapsed B-cell non-Hodgkin’s lymphoma. Less than 15 percent of people who experience recurrence of those cancers respond completely to existing treatments. Up to 90 percent of people respond to CAR T-cell therapy, with 40 to 50 percent experiencing remission.

“Of course, this therapy is so new that we are still learning how durable that response will be,” Dr. Lin says.

Other challenges remain. CAR T-cell therapy causes severe side effects that sometimes require management in the intensive care unit and, rarely, can be fatal. With support from CIM, the researchers are working to find biomarkers that could identify individuals likely to experience severe side effects or to have a durable response to the therapy.

The researchers also hope to simplify the complex processes involved in CAR T-cell therapy to improve patients’ experience. In addition, laboratory work is underway to develop a next generation of CAR T-cell therapy that would have fewer side effects and would kill other blood-based cancers and solid tumors.

Dr. Lin expects multiple myeloma to be the next cancer type to gain FDA approval for CAR T-cell therapy.

“We have a lot to learn,” Dr. Lin says. “But we know CAR T-cell therapy is a good platform to develop more innovations.”

Genetic fingerprints to guide treatment

A genetic test developed at Memorial Sloan Kettering (MSK) Cancer Center can profile the unique genetic makeup of an individual’s cancer — information that physicians can use to select the best treatment for that person. The MSK-Integrated Mutation Profiling of Actionable Cancer Targets (MSK-IMPACT) can detect genetic changes in 468 genes associated with common and rare cancers.

Michael Berger, Ph.D.

“Almost 40 percent of patients tested with MSK-IMPACT have a DNA alternation that can be targeted by an approved or investigational therapy. Those patients can then receive targeted treatment or be enrolled in a clinical trial,” says Michael Berger, Ph.D., associate director of the Marie-Josée and Henry R. Kravis Center for Molecular Oncology at MSK Cancer Center.

Dr. Berger, who spoke at the conference today, led the development of MSK-IMPACT, which offers a more comprehensive view of an individual’s tumor than smaller gene panel tests. “We’ve begun extracting even more information from MSK-IMPACT data, looking beyond individual mutations to the more complex signatures of mutations that sometimes affect response to immunotherapy,” he says.

In his conference presentation, Dr. Berger cited a 67-year-old woman who had been successfully treated several years earlier for breast cancer but subsequently developed a tumor in a lymph node. That tumor was considered a recurrence of breast cancer — until the woman had MSK-IMPACT testing.

“Based on mutations and other genomic signs, we realized there was a 96 percent chance that this wasn’t breast cancer but a lung cancer,” Dr. Berger says. “As a result of this new diagnosis, she was treated with chemotherapy instead of hormone therapy.”

CT sequences DNA from patients’ blood as well as their tumors. The blood sequencing tests can detect mutations associated with a predisposition to cancer. “That has implications for family members, who might benefit from screening or genetic counseling,” Dr. Berger says.

By focusing on genetic alterations shared by various tumor types, MSK-IMPACT can boost the power of clinical trials for new cancer therapies. “After MSK-IMPACT testing, you might have patients in a clinical trial with lung cancer, breast cancer or any other cancer type who share a specific genomic alternation that can be targeted by the drug under investigation,” Dr. Berger says. “The more accessible this testing becomes, the more effectively we can choose the best therapies for patients based on the genetic makeup of their tumors.”

A deeper dive with RNA sequencing

To further guide cancer treatment, researchers are diving even more deeply into the expressed genes of tumor cells, using RNA sequencing. It’s a technology that provides a wealth of information, including detecting the fusion of two previously separate genes. Fusions of cancer-related genes can contribute to tumor formation and progression.

“Identifying gene fusions can help with diagnosis and can help predict whether a person will respond to certain cancer therapies,” says Kevin C. Halling, M.D., Ph.D., a consultant in Mayo Clinic’s Division of Laboratory Genetics and Genomics, who spoke at the conference today.

RNA sequencing is currently used mostly to help with diagnosis of sarcomas — cancers that occur in the bones and soft tissues. But it also shows promise for the diagnosis of certain blood and lung cancers with gene fusions.

Kevin Halling, M.D., Ph.D.

“There’s so much power to this RNA sequencing technology. It seems like almost every time we run it, we’re discovering something new,” Dr. Halling says. “There’s a lot we have to discover yet before we can understand the precise applications for this technology. But I’m confident that drugs are going to become available that work on these fusions. The work we’re doing now will pay off later.”

The Individualizing Medicine Conference continues tomorrow. Highlights tomorrow include presentations on the Human Genome Project and its impact on precision medicine, as well as the use of big data to understand genetic links to disease and breakout sessions on artificial intelligence (also known as augmented human intelligence), pharmacogenomics, and the microbiome and its influence on diet and health.

Join the conversation

For more information on the Mayo Clinic Center for Individualized Medicine, visit our blogFacebookLinkedIn or Twitter at @MayoClinicCIM.


Additional coverage: 6 ways individualized medicine in advancing patient care

Mayo Clinic Minute: What is the microbiome and how does it affect your weight?


Wed, Sep 12 9:50am · CIMCON18 is underway: 6 ways individualizing medicine is advancing patient care

ROCHESTER, Minn. — Individualized medicine is tapping the human genome in new ways to attack health care disorders, predict risk of disease, make an earlier diagnosis and identify precise therapies. Individualized medicine, also called precision medicine, uses people’s information about their genetic blueprints, lifestyles and environments to shape health care.

Keith Stewart, M.B., Ch.B.

On Wednesday, Sept. 12, Keith Stewart, M.B., Ch.B., Carlson and Nelson Endowed Director, Mayo Clinic Center for Individualized Medicine, presented six ways precision medicine has further advanced into patient care over the past year. Dr. Stewart shared these innovations today in his opening welcome to the 2018 “Individualizing Medicine Conference: Advancing Care Through Genomics in Rochester.

“In the 15 years since the first human genome was mapped, hundreds of thousands of patients have had their DNA sequenced, which has helped pinpoint the cause of disease and respond with individualized treatment,” says Dr. Stewart. “Fifteen years is a very short time in the history of medicine, and there’s still a lot we don’t know. Our research is helping us understand this emerging area of health care and its application to clinical practice. This conference is a great platform for sharing those discoveries.”

Dr. Stewart points to six key ways individualized medicine has advanced patient care over the past year:

1. Genomic testing is moving beyond disease to benefit healthy patients.
The cost of genomic sequencing has dropped sharply, making it possible to consider making DNA sequencing more widely available as a regular, pre-emptive clinical test for most patients. Mayo Clinic is conducting research to learn whether genetic testing of healthy patients might be as useful as a cholesterol test or regular cancer screening.

“We are interested in learning how we can use these tests to predict disease risk and intervene earlier. Further, we are exploring how genetic test results can be entered into the electronic health record in meaningful ways and studying how to improve care without increasing cost,” says Dr. Stewart.

2. Genetic testing is uncovering more hereditary links to cancer.
Research is finding that genetic testing is ushering in a new era of cancer prevention and treatment. DNA tests are identifying inherited genetic mutations ─ even in patients without a strong family history of cancer. A finding of hereditary cancer can influence cancer treatment and alert family members that they, too, should be screened to learn their risk for cancer. Investigators and physicians at Mayo Clinic are recommending expanding genetic testing as a cancer screening tool for all or nearly all cancer patients.

3. Research is advancing DNA blood tests to find and track the course of cancer.
Mayo Clinic has made great strides in developing DNA blood tests, known as liquid biopsies, that can detect the presence of cancer, monitor response to treatment and track recurrence before a tumor appears or returns. The test searches for DNA from cancer cells circulating in the bloodstream. Such blood tests may offer alternatives to X-rays and tissue biopsies, and may have the power to find cancer at an early stage when it is most curable.

4. Genetically engineered cells that act as living drugs are a new option in cancer care.
Chimeric antigen receptor T-cell (CAR T-cell) therapy seeks to harness the power of each patient’s individual immune system by genetically modifying cells, equipping them with power to kill cancer. These engineered cells multiply and act like a living drug that uses the body’s defense system to fight disease.

 5. Artificial intelligence, also known as augmented human intelligence, is being tapped for individualized diagnosis and treatments.
Artificial intelligence, or augmented human intelligence, combines physician know-how with deep computer analysis to recognize patterns and trends that could lead to an early diagnosis. Machine learning could help radiologists by automatically processing thousands of images generated during an exam and identifying which images may be related to health and disease. Mayo Clinic also is studying ways augmented human intelligence can identify individualized therapies for breast cancer, depression and Alzheimer’s disease.

6. Drug-gene testing is more widely available.
Pharmacogenomics is the area of precision medicine that examines how a person’s genetic makeup influences how the body processes and responds to medications. Mayo Clinic is pre-emptively entering pharmacogenomics test results of more than 11,000 patients into the electronic health record to study how having this information could guide prescribers to safer and more effective medications. This is another step toward making pharmacogenomics testing available for more patients and health conditions.


Dr. Stewart is the Vasek and Anna Maria Polak Professor of Cancer Research Division of Hematology-Oncology, Mayo Clinic.


About Center for Individualized Medicine

Mayo Clinic Center for Individualized Medicine discovers, translates and applies new findings in genomic research into individualized medicine products and services for patients everywhere. Learn more on the Mayo Clinic Center for Individualized Medicine website.

About Mayo Clinic

Mayo Clinic is a nonprofit organization committed to clinical practice, education and research, providing expert, comprehensive care to everyone who needs healing.  Learn more about Mayo Clinic. Visit the Mayo Clinic News Network.


Mon, Aug 27 8:00am · Gerstner awards boost research into hereditary cancer, Parkinson's disease

Creating tools to detect cancer at an early stage and advancing research into the genetic links to Parkinson’s disease are focuses of the 2018 Gerstner Family Career Development Awards. This year’s winners are Niloy ‘Jewel’ Samadder, M.D., a gastroenterologist at Mayo’s Arizona campus whose research focuses on inherited cancer, and Fabienne Fiesel, Ph.D., a neurosciences investigator at Mayo’s Florida campus.

The Gerstner Family Career Development Awards in Individualized Medicine are given each year to early-stage investigators to advance individualized therapies. The award provides funding for research that furthers an individualized approach to predicting, preventing, treating and possibly someday curing disease. Another goal is to promote a specialized workforce capable of moving individualized medicine from discovery into patient care.


Niloy ‘Jewel’ Samadder, M.D.: Genetic testing as a screening tool

As a young physician-researcher, Dr. Samadder treated many young people with early onset cancers — the types that are passed down in families. These patients had a specific inherited gene that increased their chances of developing cancers throughout their body. People with inherited cancer genes often undergo an extensive battery of screening procedures every year including colonoscopy, endoscopy, ultrasounds and even preventative prophylactic surgeries. That inspired his current research to develop tools to non-invasively screen for multiple cancers for those at highest risk. Dr. Samadder envisions a tool similar to Cologuard®, a stool-based test developed at Mayo Clinic. His research will focus on designing a unique stool or blood test that could help detect a cancer at a very early stage anywhere in the body at a point when it is most curable.

Niloy “Jewel” Samadder, M.D.

“Our goal is to develop a noninvasive, blood-based or stool-based tool that can be applied to hereditary cancers for patients who are at risk of multiple cancers,” says Dr. Samadder. “This is more likely to be accepted and completed by the patient. These tools could also make it easier for family members to be screened and learn who else is at a higher risk for hereditary cancer.”

Research shows that up to one in every five cases of cancer is linked to inherited mutations. As many as half of those cases are missed by current screening guidelines. Even after these patients are diagnosed with an inherited or genetic form of cancer, their screening can be complex and therefore, hard to follow. Additional tools may address that issue by providing new, less invasive screening options. For example, guidelines call for patients with Lynch syndrome, a genetic condition that comes with a high risk of colon, endometrial, ovary, stomach and other cancers – to have colonoscopies, and other time consuming screenings every year for the rest of their lives. Could a stool- or blood-based test to detect cancer be used as an alternative?

“It may not replace colonoscopy or other currently recommended tools completely in this high risk population, but instead of getting a colonoscopy every year, if this test is reasonably good, it could take the place of colonoscopy every other year,” says Dr. Samadder.

His research will focus on screening for inherited mutations in the following groups of cancers:

  • Colon
  • Uterine
  • Lynch syndrome
  • Breast/ovarian
  • BRCA syndrome
  • Duodenal

The Gerstner Award will allow him the time and opportunity to tap the expertise of others at Mayo Clinic in his research. This project has the potential to transform the care of patients with inherited forms of cancer and provide an individualized medicine approach to cancer prevention and early detection.

Fabienne Fiesel, Ph.D.: Seeking new therapies for Parkinson’s disease

Dr. Fiesel’s research seeks to discover new biomarkers — indicators of health and disease — with the ultimate goal of preventing, treating and curing Parkinson’s disease through precision medicine. Currently, there are approved therapies to treat the symptoms, but there is no known therapy or cure for the disease itself.

Her research centers on a fundamental cell biology pathway that links two genes involved in rare hereditary forms of Parkinson’s. Mutations in PINK1 and Parkin result in the accumulation of damaged mitochondria and lead to the death of the nerve cells, which causes loss of bodily function. Mitochondria are the powerhouse of a cell, acting like an energy source that keeps cells alive.

Fabienne Fiesel, Ph.D.

“There is evidence that mitochondrial damage is also linked to non-inherited forms of Parkinson’s and it is an early marker for several other (neurodegenerative) diseases,” says Dr. Fiesel. “A lot of research is being done to understand the biology of this pathway and to develop specific treatments to prevent mitochondrial damage.”

Dr. Fiesel’s team will perform deep molecular analysis, comparing cells with genetic mutations to cells of healthy people. She hopes to find a biomarker that will help to identify mitochondrial problems in Parkinson’s disease patients. This biomarker will be useful to test whether a specialized diet and exercise to improve the health of mitochondria, can have therapeutic benefits and whether specific therapeutic agents can be identified to correct or slow advancement of the problem.

“Hopefully someday we will be able to identify mitochondrial damage before a person has Parkinson’s or any other disease and before there is nerve damage. Then, maybe we could intervene with treatment before there is death of neurons and disease,” says Dr. Fiesel, “but this is only the beginning of our research.”

Dr. Fiesel’s project seeks to identify which Parkinson’s disease patients might be prime candidates for mitochondrial therapies when they are ready to be studied in clinical trials.


Join the conversation

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Register to attend this year’s Individualizing Medicine Conference. It will be held in Rochester, Minnesota, on Sept. 12-13, 2018.


Mon, Aug 13 8:00am · Zooming in on cancer suspects

Article by Barbara Toman

Genetic testing is like security-camera video of a break-in, providing essential clues to identify a culprit. In certain cancers, the “culprit” might be a rearrangement in a person’s DNA, which genomic testing can capture.

But sometimes, like too-fuzzy security footage, conventional genetic testing can’t provide a positive identification. For people with cancer, the stakes are high because pinpointing the chromosomal problem can lead to more effective treatment.

Mayo Clinic has developed a novel group of clinical tests that zoom in on a person’s genome to characterize chromosomal rearrangements. The testing, developed in conjunction with the Center for Individualized Medicine (CIM) and available through Mayo Medical Laboratories, relies on a technique known as “mate pair sequencing.”

Nicole Hoppman, Ph.D.

“Our mate pair sequencing testing can characterize almost any chromosomal rearrangement. We can finally answer questions about suspicious rearrangements of important genes,” says Nicole Hoppman, Ph.D., a medical geneticist who helped develop the tests.

Mate pair sequencing is performed after initial testing indicates a chromosomal abnormality. “The initial chromosome studies can tell us where a chromosomal rearrangement is located but not the specific gene content of the rearrangement,” Dr. Hoppman says.

Another test, known as fluorescence in situ hybridization (FISH), can provide that gene-level information. “But FISH studies isn’t a genome-wide test, and we often have questions about more than one region of a person’s genome,” Dr. Hoppman says.

Mate pair sequencing provides genome-wide, gene-level information. The entire genome of a patient is sequenced, but analysis is restricted to regions where an abnormality was found. “Mate pair sequencing can clarify in a single test the abnormalities seen by chromosome or FISH studies,” Dr. Hoppman says.

Personalized cancer therapy

Mate pair sequencing can directly impact patient care. One example at Mayo Clinic is a pediatric patient who experienced a relapse of B-cell acute lymphoblastic leukemia.

FISH studies indicated a disruption of a gene known as ETV6, which is common in many types of cancer. Genetic disruptions typically involve pairs of genes, and the effects of the disruption depend on both of the specific genes involved. ETV6 has many possible partners in cancer, and in this case chromosome and FISH studies couldn’t identify the partner.

But mate pair sequencing did just that. The identified partnership is rare yet can be treated with a certain class of cancer therapy. “The mate-pair result led to additional treatment options for the patient,” Dr. Hoppman says.

Mayo Clinic’s mate pair sequencing tests are designed to detect chromosomal rearrangements not only in leukemia but also in various types of lymphoma, certain solid-tumor cancers and inherited abnormalities. This testing is more efficient than other genomic sequencing strategies because it uses larger pieces of DNA as input material. Analyzing this type of data requires a sophisticated algorithm, which CIM researchers spent years developing.

As a whole-genome test, mate pair sequencing can keep pace with ongoing advances in individualized medicine. “If researchers make a new discovery that a gene is important, and a person has already had mate pair sequencing, we have all the data we need,” Dr. Hoppman says. “We can go back and analyze another region in the person’s genome.

“Mate pair sequencing is nimble,” she adds. “It allows us to add targets and answer patients’ questions faster when there’s a new discovery. Better answers can lead to better treatment.”




Join the conversation

For more information on the Mayo Clinic Center for Individualized Medicine, visit our blogFacebookLinkedIn or Twitter at @MayoClinicCIM.


Register to attend this year’s Individualizing Medicine Conference. It will be held in Rochester, Minnesota, on Sept. 12-13, 2018.



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