Posts (159)

Tue, Apr 2 8:48am · Purna Kashyap, M.B.B.S. - testing the bugs within to maintain health, detect and treat disease

Purna Kashyap, M.B.B.S.

The use of microbiome testing – which analyzes the trillions of bacteria in and on the body – is on the move. It’s going from the research lab into the clinic to help guide patient care. DNA testing technologies have revolutionized researchers’ ability to identify individual bacterial strains driving disease. Now genomic testing is helping diagnose the source of infections, develop personalized diets, find new treatments for functional and inflammatory conditions of the gut and identify new screening tools for certain cancers.

For Purna Kashyap, M.B.B.S., this is just the beginning. As the Bernard and Edith Waterman co-director for the Mayo Clinic Center for Individualized Medicine Microbiome Program, Dr. Kashyap envisions the coming years as a pivotal time for moving the latest discoveries from the lab to new diagnostic tests and individualized microbiome-based therapies for patients.

“Just as genomics plays a key role in personalized medicine, the microbiome also affects our individual health – boosting our immune system, helping us digest food and influencing how we respond to medications. We are each born and live with a unique microbiome. But unlike our genes, the microbiome can be manipulated and changed. That’s why physicians need to consider the role of the microbiome, along with genetics and other factors, especially when treating patients with complex diseases like autoimmune disorders, gastrointestinal diseases, diabetes, obesity and many types of cancer,” says Dr. Kashyap.

Technologies developed in the lab provide answers in the clinic

A high fever, increased blood pressure and rapid heart rate – these are all symptoms that could be caused by an infection. But for some patients, traditional blood tests fail to identify the source of the illness. That’s where microbiome testing technologies developed in the laboratory are already helping to find answers for Mayo Clinic patients. Within a day and in some cases just hours, the testing is revealing the source of a previously undiagnosed infection, allowing for treatment with targeted therapies.

“We can now identify the specific bacteria causing serious infections even though we are not able to culture them” says Dr. Kashyap.

Test results can help physicians choose targeted therapies to treat infections and avoid the use of “dynamite” antibiotics explains Dr. Kashyap.

“Genomic testing allows us to select specific therapies to kill only the bacteria causing the infection, rather than prescribing an antibiotic that eliminates all of the gut bacteria, leaving the patient susceptible to other illnesses,” says Dr. Kashyap.

Next steps – identifying biomarkers to predict, diagnose and treat disease

To expand the use of microbiome testing, Dr. Kashyap and his colleagues are collaborating with the Center’s Clinomics Program to integrate microbiome testing into patient care as well as clinical trials. Their goal is to identify microbiome biomarkers that could be used to develop screening tests to detect early signs of disease or new individualized therapies, tailored to a person’s microbiome.

Going forward, microbiome testing may also provide important information about disease risk for healthy patients.

“This testing could provide healthy patients with information about disease risk and help define steps they can take to manage their health,” says Dr. Kashyap.

Eat this, not that – personalized diets

Dr. Kashyap and his colleagues have recently tested a model that successfully predicted changes in blood glucose (sugar) levels based on an individual’s age, lifestyle habits and microbiome.

“With the model, we can manage blood sugar levels by changing diet to match the microbiome rather than trying to change the microbiome which may take time”” says Dr. Kashyap.

Dr. Kashyap and his team have also uncovered a link between a person’s microbiome and their ability to lose weight.

“In a pilot study, we found that after switching to a lower-calorie-diet rich in fruit and vegetables, some people were able to lose weight more easily than others due to the type of bacteria in their gut.”

Learn more about the team’s research here.

Matching research to patient needs – a focus on gut health

Throughout his career as a gastroenterologist, Dr. Kashyap has focused on conducting research to meet the needs of his patients.

He has explored how gut bacteria control normal gut function and contribute to the development of gastrointestinal disorders, such as irritable bowel syndrome.

In addition, he has investigated how bacteria lead to opportunistic infections that can become life threatening, such as c. difficile, which can occur after a patient has had a prolonged stay in a hospital or nursing facility. The Mayo team has used new treatment approaches, including fecal transplants, to restore these patients’ gut microbiome with healthy bacteria.

“Some patients have a microbiome composition that makes them more susceptible to c. difficile infection. We are working on strategies to prevent the infection as well as develop a treatment with a bacteria-containing pill.”

For Dr. Kashyap, these research efforts are just the tip of the iceberg. “As we learn more, we’ll be able to offer patients better screening and treatment for a wide range of diseases, tailored to their unique needs.”

Pushing the envelope to uncover causes, new treatments for colorectal cancer

Read the related article, highlighting Microbiome Program co-director Nicholas Chia, Ph.D., and his research to uncover early signs of colorectal cancer to improve screening and treatment for the disease.

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Tue, Mar 26 8:48am · Lifesaving information - genetic testing reveals risk, steps to prevent aortic dissection

Stephanie Van Doren and her family

Stephanie Van Doren never realized that taking 30 mile bike rides in the Florida heat was putting her life at risk. But, care for digestive problems also uncovered that she was at risk for an aortic dissection, a potentially fatal condition that could occur with intense exercise. Her care team at Mayo Clinic’s campus in Florida quickly connected the dots. Her family history and physical exam painted a picture that pointed to a hereditary condition. They recommended genetic testing and the results provided lifesaving information to Van Doren and her family.

Unraveling a medical mystery through genetic testing

Sarah Macklin

Van Doren met with Sarah Macklin, a genetic counselor in the Department of Clinical Genomics and Center for Individualized Medicine.

During the first appointment, Macklin mapped Van Doren’s family medical history for three generations. They also discussed the benefits, risks, and limitations of testing, and what steps could be taken if any of the tests came back positive.

Van Doren had testing to explore two questions: did she have any identifiable genetic risk factors that significantly increased her risk of having a thoracic aortic aneurysm and aortic dissection? Did she have any identifiable genetic risk factors that significantly increased her risk for breast cancer since her sister had died from the disease at a young age?

Results showed that she did have the genetic risk factor for aortic dissection, but did not have a genetic risk identified for breast cancer.

“I was devastated that I was at increased risk for aortic dissection. This runs deep in my family and I had seen firsthand how it has affected my relatives,” she says.

Many members of Van Doren’s family had an aortic dissection at a young age. The condition can be life threatening and occurs when the inner layers of the aorta, the large blood vessel branching off the heart, tear.

As a result, she and her family decided that her children should also have genetic testing. They met with Macklin to learn more about the process and implications.

“This second conversation is much different than the first,” explains Macklin. “We now are looking for a particular genetic variant that has been identified in a parent or other family member. We take time to explain to children – in terms that they can understand – what we are looking for, why we are looking for it and what it will mean if the test comes back positive.”

“It’s very important to be honest with children so they can understand and agree to have the testing, even if they are not old enough to give the consent themselves.”

Two of Van Doren’s three children have the gene variant linked to aortic dissection. She received these results first and then shared them with her children.

“It was important for me to have time to process the results myself and then explain them to my children,” she says.

Macklin also shared the genetic test results with Mayo specialists in Cardiovascular Medicine who are providing Van Doren e and her children with the monitoring and follow up care they need to stay healthy.

“Never did I imagine that I would have genetic testing, but thankfully I did – the results probably saved my life and will help my children live a healthier life.” she says. “It’s difficult to learn that you are at risk for such a serious condition. But now we have the information we need to be proactive and stay healthy.”

Know and share your family medical history with your health care team 

Timothy Woodward, M.D.

Van Doren first came to Mayo seeking relief from digestive problems. It was her gastroenterologist, Timothy Woodward, M.D., who first recognized that her family history plus characteristics he observed during her physical exam pointed to the possibility that she had a hereditary condition.

“Ms. Van Doren did what we hope all patients will do – know and share their family medical history with their physicians,” says Dr. Woodward. “This information plus a complete clinical evaluation allows us to provide patients with individualized care, tailored to their needs.”

Moving forward – living life to the fullest

“I have always led a very active lifestyle – enjoying skydiving and leading group fitness classes. Now I am unable to do these things. I can exercise, but I need to pay close attention to my heart rate and avoid intense exertion. My children can still do many of the activities they love and will continue to be monitored as they grow,” Van Doren explains.

Looking back, she reflects that there were definitely highs and lows during the genetic testing process. Thanks to the coordinated efforts of her Mayo Clinic care team, she and her family found the answers they needed.

“We have moved on – each day is filled with activities for 3 busy children – we’re living life to the fullest.”

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Learn from and network with researchers and innovators in oncology at

Individualizing Medicine 2019 Conference: Precision Cancer Care through Immunotherapy and Genomics

 

Key themes include:

  • CAR-T therapy
  • Clonality
  • Pharmacogenomics
  • Lineage Plasticity
  • National Cancer Institute.

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Tue, Mar 5 6:00am · Meet Nicholas Chia, Ph.D. - pushing the envelope to uncover causes, new treatments for colorectal cancer

Nicholas Chia, Ph.D.

Space-age technologies, DNA sequencing and artificial intelligence – all tools for discovery that Nicholas Chia, Ph.D. and his team are using to push the envelope and improve care for complex diseases like colorectal cancer. They’re collaborating with scientists from NASA to uncover how the microbiome – the trillions of microbes in and on the body – triggers early stages of disease. Their goal is to develop better tools to prevent, screen and treat these complex conditions.

“We’re pushing the envelope by using the same technologies to understand the role of microbes in disease that NASA uses to explore life on Mars. At the same time, DNA sequencing has revolutionized our ability to identify different bacterial strains and their role in moving from a healthy to a disease state. Now artificial intelligence is enabling us to draw together and analyze large amounts of genomic, biological and ecological data to gain new insights,” says Dr. Chia.

Dr. Chia is the newly named Bernard and Edith Waterman co-director for the Mayo Clinic Center for Individualized Medicine Microbiome Program.

Where does colorectal cancer begin?    

“In complex diseases like colorectal cancer, there aren’t just one or two players. In fact, multiple factors lead to the development of many subtypes of the disease. That’s why it is so important to take a holistic approach – we’re exploring the role of the environment, genetics and the microbiome in increasing risk for disease,” says Dr. Chia.

Through his work, Dr. Chia hopes to improve individualized treatments for colorectal cancer – the third most common cause of cancer-related deaths for men and women.

“Since joining Mayo Clinic, I have focused on how microbes interact with cells to cause events like toxicity, DNA damage and inflammation – all which can serve as triggers for changes that can lead to cancer,” says Dr. Chia.

Dr. Chia’s work will also shed light on possible links between the microbiome and many other diseases.

“We hope to understand how your microbial ecology gives rise to susceptibility to disease, how those pathogens may cause colorectal and other cancers, and how your microbiome modulates, activates or deactivates your immune system in important ways in diseases that range from autoimmune diseases like rheumatoid arthritis to allergies,” says Dr. Chia

Bridging the gap – from ecology and evolution to clinical care

After earning his undergraduate and doctorate degrees in physics, Dr. Chia pursued post-doctoral studies in ecology and microbiology

He explains his early interest in microbiome research by recounting a friendly argument he won with his research mentors.

“During my training, I saw how the theories we were using in the basic sciences could be applied to medicine. However, my research colleagues had doubts. As the National Institutes of Health launched the microbiome research initiative, my interest in the role of the microbiome in our health grew. Eventually, my research mentors agreed, recognizing how a systems biology approach could uncover complex factors driving disease,” says Dr. Chia.

Dr. Chia and his Mayo team’s recent collaboration with NASA Astrobiology Institute prove his point.

Their research revealed that kidney stones grow in dynamic ways similar to those observed in Mammoth Hot Springs rock formations at Yellowstone.

“This is an important discovery that could improve care for 1 in 10 Americans who suffer from kidney stones, a condition that can cause severe pain. Our next step is to examine the microbiome’s role in this process so that we can intervene and prevent stones from forming,” says Dr. Chia.

As microbiome research moves forward, Dr. Chia believes the team science approach will help push the envelope on discovery.

“We’re just beginning to unlock the mysteries of the microbiome. With our team members’ diverse perspectives and the application of new technologies, the road to discovery lies wide open.”

Read more about Dr. Chia’s research on kidney stones here.

Testing the bugs within to maintain health, detect and treat disease

Read a related article, highlighting Microbiome Program co-director Purna Kashyap, M.B.B.S. and his research. Learn how technologies developed in the microbiome lab are already improving clinical care for undiagnosed infections and beyond.

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Thu, Feb 21 6:00am · Once a patient, now a research fellow: Kelsey Stuttgen, Ph.D. is paying compassion forward

Kelsey Stuttgen, Ph.D.

One minute the young girl was skiing; the next she had fallen, had severe pain in her leg and was rushed to the hospital. It could have been a scary time filled with questions about the road ahead.

But for Kelsey Stuttgen, Ph.D., the compassionate care delivered by her orthopedic surgeon and care team at Mayo Clinic was more than healing – it changed her life. Dr. Stuttgen has now come full circle. She has returned to Mayo Clinic’s campus in Rochester, Minnesota, as a research fellow in the Biomedical Ethics Research Program, ready to pay forward the compassion she received.

All roads led back to Mayo Clinic

As a patient at Mayo, Dr. Stuttgen developed a special bond with her orthopedic surgeon that spurred her love of science and inspired her interest in the medical field.

She says that physician, Edgar Hicks, M.D., along with her care team at Mayo Clinic Health System in Eau Claire, Wisconsin, made her hospital stay and recovery much easier with their compassionate, reassuring care.

“Dr. Hicks’ bedside manner was calming and gave me hope that I would fully recover. I was also impressed by the collaboration among my care team members. As a result, I regained my strength and am able to lead an active lifestyle, cycling and competing in half marathons,” says Dr. Stuttgen.

She stayed in touch with Dr. Hicks over the years and asked him to serve as a research mentor while earning her undergraduate degree in biology at University of Wisconsin-Eau Claire.

Their research explored how antibiotics for rotator cuff surgery reduced the risk of infection.

“It was rewarding to work with Dr. Hicks and see the scope of care that he and his colleagues provide patients. It’s this expertise that sets Mayo apart,” explains Dr. Stuttgen.

During college, Dr. Stuttgen was first introduced and intrigued by the rapidly evolving field of genetics and the doors it opened for patients. She went on to earn her Ph.D. in human genetics from Johns Hopkins University.

“I was drawn to genetics because of its versatility and relevance to so many areas of medicine. With new technologies like CRISPR gene editing and lower cost DNA sequencing, genetics is improving our understanding of many diseases, allowing both patients and providers to be more informed about how genetics can affect the health of individuals and their family members,” says Dr. Stuttgen.

Her experience as a Mayo patient, coupled with Mayo’s leadership in genetics and bioethics drew her back for her research fellowship.

“I am excited to learn from and collaborate with Mayo Clinic and Center for Individualized Medicine researchers who are at the forefront of the genetics and bioethics fields. It’s a wonderful opportunity to work with experts across many areas to address critical issues facing providers and patients today,” says Dr. Stuttgen.

Helping patients and families navigate genetic testing

While at Mayo, Dr. Stuttgen hopes to build on research she began during her doctoral studies on parent-child communication of genetic test results.

“We want to help patients who are at risk for or have a hereditary disease navigate those difficult conversations with family members. We also need to consider broader issues. What is the best way to return results? What results should be returned? Ultimately asking all of these questions – in a field like genetics that is relatively new and rapidly evolving – is critical to providing patients with the support they need and the same compassionate care I received,” explains Dr. Stuttgen.

Learn more about bioethics research

Read about bioethics research underway within the Mayo Clinic Center for Individualized Medicine Bioethics Program:

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Mon, Feb 4 6:00am · Meet Chuanhe Yu, Ph.D.: searching for the genetic switches linked to disease

Chuanhe Yu, Ph.D.

Chuanhe Yu, Ph.D. has always had an interest in genetics – the thousands of genes that make each of us unique. His research focuses on the growing field of epigenetics, which aims to better understand how environmental and lifestyle factors cause chain reactions, flipping the switch on genes and the  instructions they provide to guide our body’s functions. It’s these changes that could be linked to the development of disease.

For Dr. Yu, the most exciting part of his work is the possibility that the mechanisms he observes could be reversed, and may lead to new therapies to treat diseases like cancer.

“We can’t change our genetic sequence, but we can potentially reverse epigenetic code that leads to disease. First, we must overcome the challenge that researchers have faced for years. We need to observe the biological and genetic process taking place as cells divide and grow in the body. We’ve recently developed a tool that provides a window into these processes, and we’re just beginning to analyze the significance of what we’ve uncovered,” says Dr. Yu.

Originally from China, Dr. Yu earned his Ph.D. in genetics from Iowa State University. Drawn by Mayo Clinic’s reputation for excellence in clinical care and research, he joined the Center for Individualized Medicine Epigenomics Program research team in 2012.

How an electric piano can help explain the importance of epigenetics

Piano keyboard with headphones for music

For a pianist, an electronic keyboard offers many different ways to play the same musical notes, without changing the keys. With the touch a button, players can shift the tempo of the music and the sound of each note, even combining effects to create a new interpretation of the original song.

Consider now that the genes in our bodies are like the keys on the piano. They can’t be changed, but how our genes guide our body’s functions can.

Our epigenome is similar to the different effects a pianist can use on the keyboard. It is made up of a multitude of chemical compounds and proteins that can attach to our DNA, changing how the genes (like the piano keys) perform in our bodies.

Just as a pianist can flip a switch on the keyboard, changes in our epigenome can switch on or off genes, leading to uncontrolled growth, a hallmark of cancer, or to a failure in our immune system’s ability to destroy tumors or other diseases.

As Dr. Yu explains, some of the changes in the epigenome are linked to our environments and our lifestyle choices, such as what we eat and whether we smoke or drink alcohol.

“Human cells can respond and adapt to environmental changes through different mechanisms, including epigenome response. But there are many factors that can interfere with these mechanisms. For example, sustained exposure to tobacco can cause epigenetic alterations that turn a normal cell within the lung into a cancer cell,” says Dr. Yu.

Memories of exposures past — a model to study how DNA-associated epigenetic information is reproduced as cells multiply

Our bodies are made of 50 trillion cells, many of which continue dividing over our lifetime. According to Dr. Yu, how DNA-associated epigenetic information is reproduced and the factors that can alter this process are critical to understanding how disease may be triggered.

He and his colleagues recently developed a method called eSPAN, which stands for Enrichment and Sequencing of Protein-Associated Nascent DNA, to examine the mechanisms taking place as new cells are created. They published their findings in the journal Science.

“Epigenetic information carried by DNA-associated proteins needs to be copied from parent to daughter cells for passing down traits that distinguish different cell types. The same mechanisms also propagate effects of environmental exposures that may cause disease. Using yeast models, we can apply this new tool and observe how the proteins that carry epigenetic information are transferred to newly produced DNA strands and how gene mutations can influence these processes,” says Dr. Yu.

Using this new method, Dr. Yu and his team have observed the DNA replication process in a number of genes, including a gene linked to certain types of breast and prostate cancers in humans.

“We’ve observed genetic changes in the proteins regulating epigenetic inheritance that have been detected in some malignancies. Our goal is to uncover whether these DNA changes are in fact the cause or the consequence of cancer development”, says Dr. Yu.

As a next step, Dr. Yu and his colleagues plan to test the eSPAN method using human cells, hoping to uncover even more evidence of factors that lead to the development of disease.

The opportunity to reverse mechanisms driving disease

Dr. Yu expects the importance of epigenomics to continue to grow as more underlying biological and chemical mechanisms driving human disease are uncovered.

“DNA alterations can have lifelong implications to our health. In addition, some epigenetic alterations can be passed down from one generation to the next.  If we can understand why epigenetic alterations are occurring, we may be able to develop therapies that can reverse diseases by targeting these underlying mechanisms”, says Dr. Yu.

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Dec 31, 2018 · The growing role of genetic nurses: educating, empowering patients

As genetic sequencing has become faster and cheaper, more people are considering predictive genetic testing to identify their future risk for disease, with the goal of taking charge of their health. Yet many face the challenge of understanding which genetic testing option would fit their health goals.

While genetic counselors have traditionally helped patients through this journey, there is a shortage of these professionals as genomics moves into more areas of clinical care.

That’s where Therese Hughes and Corinne Berg, genetic nurses in Mayo Clinic Center for Individualized Medicine,  step in, working with genetic counselors to educate and empower patients. Hughes and Berg are part of the care team for healthy patients in the Executive Health Program who are considering predictive genomic testing.

Teresa Kruisselbrink

“Over the last three years, we’ve added nurses to our team, developing a unique care model where they work together with genetic counselors to extend genomics education, and genetic testing when appropriate, to more patients. We’ve also shared our successful model with other institutions and professional organizations across the country,” says Teresa Kruisselbrink, genetic counselor and supervisor of genetic nurses in the Center.

Family trees – revealing clues about future health risks

As a first step in each appointment, Hughes and Berg map a patient’s family medical history.

Therese Hughes

“We’re looking for any clues that there may be a history of a medical condition that has a hereditary or genetic component – such as certain types of cancer, heart disease or neurological disorders, especially those experienced by family members before the age of 50. For example, if a family member died suddenly, it can be a sign of a hereditary heart disease or an increased risk for stroke,” says Hughes.

The nurses record medical histories for three or more generations of a patient’s family – that can include grandparents, parents, siblings and children.

Berg is inspired by her own personal story, which highlights the lifesaving information a family medical history can reveal.

“My aunt died at a young age from breast cancer. After learning about hereditary cancers in nursing school, I was tested and discovered I had the BRCA2 gene, which increases my risk for breast, ovarian and pancreatic cancer as well as melanoma. It turns out my mother and sister have the same gene. We all had mastectomies to prevent cancer from developing. My mother’s surgery revealed that she had an early stage breast cancer. Discovering I had the BRCA2 gene actually saved her life,” says Berg.

All three women continue to have regular cancer screening. “Knowing our family history and having genetic testing has enabled us to take charge of our health,” adds Berg.

Genetics 101 and testing options

Corinne Berg

Next, Hughes and Berg educate patients about the basics of genetics with materials they developed with staff in the Centers’ Education Program.

Patients learn about:

  • How genetic traits are passed down from one generation to the next
  • Genetic test options available, which range from genetic testing focused on genes known to have a link to disease risk to more comprehensive testing that assess a broader number of genetic characteristics

“We’re continually looking for ways to bridge the knowledge gap for patients. For example, we discovered that many male patients are unaware that BRCA1 or BRCA2 mutations could affect their own health or that of their family members. So we’ve developed materials to provide that information,” says Berg.

Spreading the word – educating nurses at the bedside about genomics

According to Hughes, the role of genetic nurses is likely to increase as genomics moves into more areas of health care. She and Berg attend monthly nursing practice meetings, spreading the word about the role of genomics in health and disease.

“By presenting and participating in these monthly meetings, we hope to inform nurses so they can understand the role genomics may play in their patients’ care. For example, nurses may be able to recognize when a patient has a family medical history or condition that warrants a consultation with a genetic counselor,” says Hughes.

The education will also help nurses understand pharmacogenomics information – how a person’s genetics may affect their response to medications. Mayo is at the forefront of moving this information into clinical practice.

“Pharmacogenomics data is being added to the electronic medical records of 10,000 Mayo patients participating in the RIGHT 10K study. Providers will receive an alert when prescribing a medication in which a patient’s genetics could cause serious side effects or require a dose adjustment. It is critical that both physicians and nurses carrying for these patients understand how pharmacogenomics can enhance individualized care,” explains Hughes.

To keep pace with the growing need for genetic nurses, both Berg and Hughes are pursuing additional training. Berg is earning a master’s in nursing education, and Hughes plans to become a nurse practitioner.

“We hope to play an even bigger role in guiding patients through their genomics journey,” explain Berg and Hughes.

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Dec 3, 2018 · Meet Sanjay Bagaria, M.D.: new CIM associate director in Florida

Sanjay Bagaria, M.D.

Hindsight is 20/20.That saying rings true for surgical oncologist Sanjay Bagaria, M.D. As a premedical student at University of Michigan, he chose to major in Japanese studies, mastering thousands of characters and a new grammar structure to read the Japanese literature he loved. Looking back, that experience gave him the tools to view not only language, but eventually medicine, in new ways.

His research has focused on finding ways to boost the benefit that surgery provides patients with cancer. Now he’ll apply those lessons in his “dream job” as the new associate director, Center for Individualized Medicine(CIM), at Mayo Clinic’s campus in Florida.

“I am excited to join CIM and serve as a conduit for our talented clinicians and scientists in Florida, helping them turn ideas into discoveries that can improve individualized care. It’s an exciting time in precision medicine. We have the opportunity to bring together data from so many different areas to understand how genetic and biological processes drive disease. Our challenge is to harness this data to identify actionable steps to guide an individual’s medical care.” – Sanjay Bagaria, M.D.

“I am excited to join CIM and serve as a conduit for our talented clinicians and scientists in Florida, helping them turn ideas into discoveries that can improve individualized care,” says Dr. Bagaria. “It’s an exciting time in precision medicine. We have the opportunity to bring together data from so many different areas to understand how genetic and biological processes drive disease. Our challenge is to harness this data to identify actionable steps to guide an individual’s medical care.”

Boosting the benefit: surgery + chemotherapy in one procedure

Since joining Mayo Clinic in 2010, Dr. Bagaria has focused his clinical practice and research on a combined chemotherapy/surgical procedure called hyperthermic intraperitoneal chemotherapy (HIPEC) surgery, which is performed for select patients with late stage colon, ovarian and appendiceal cancer.

This individualized approach to cancer treatment involves surgically removing all visible cancer that has spread to the abdomen, and then, while in the operating room, bathing the abdominal cavity with heated chemotherapy for up to 90 minutes to kill any microscopic cancer cells that may remain. The type of chemotherapy given depends upon the patient’s cancer type.

According to Dr. Bagaria, the key advantage of this combined treatment is that a high dose of chemotherapy can be given to the area that needs it with minimal exposure to the rest of the body. This approach can often avoid the typical side effects of chemotherapy, such as hair loss, diarrhea and mouth sores.

While this therapy has helped some patients live longer, it doesn’t work for everyone. That’s why Dr. Bagaria has focused his research on ways to help more patients benefit from the treatment.

Dr. Bagaria is exploring:

  • Biomarkers, which are genetic variations that are already linked to certain cancer types , that may help predict whether a patient will respond to HIPEC therapy.
  • Other medications – such as immunotherapies that use the patient’s own immune cells to fight their cancer – that may be given either before or after HIPEC therapy to boost its effectiveness.

Early on – using research to improve surgical results    

“Throughout my career, I didn’t have a predetermined path. Instead, I followed my interests, letting each experience inform my next step,” says Dr. Bagaria.

After graduating from college, Dr. Bagaria worked for one year as an interpreter for government officials in Toga, a remote village near the Siberian coast of Japan. His job allowed him to travel  and welcome representatives from around the world.

Passing on a job as an interpreter at the 1998 Winter Olympics in Nagano, Japan, he attended Rutgers New Jersey Medical School and then completed a residency in surgery and post-doctoral training in genetic medicine at the Weill Cornell Medical College in New York.

“I chose surgery because it plays such a large role in curing diseases like cancer. During my surgical  fellowship at the John Wayne John Wayne Cancer Institute, I took a new approach to disease – looking at it from a medical viewpoint, not just a surgical one,” says Dr. Bagaria.

During his fellowship, Dr. Bagaria began work on developing a biomarker, which looked for a specific type of breast cancer known as basal-like breast cancer.

“We knew that basal-like breast cancer is highly aggressive and can respond to certain therapies.  We also knew that it is often confused with a type of breast cancer known as triple-negative breast cancer. The challenge was to discover a way to separate and easily identify basal-like breast cancer from triple-negative breast cancer,” he explains. Dr. Bagaria and his team identified a specific protein for basal-like breast cancer and developed a clinical test based on their findings.  He and three colleagues hold a patent for these discoveries.

“In my new role, I hope to pass along lessons I’ve learned in my own research and help investigators overcome obstacles, speeding the development of new predictive tools and therapies,” adds Dr. Bagaria.

A look into the future

So what does the future of precision medicine hold?

“Someday my own children will have their genetic and biological data used routinely to guide their medical care. CIM is uniquely poised to make this vision a reality – with research resources and experts across many disciplines, CIM has the ability to help Mayo Clinic physicians and scientists move ideas forward  that will improve prevention, diagnosis and treatment of disease,” says Dr. Bagaria.

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Nov 5, 2018 · Pharmacogenomics: finding the right drug, dose for cancer therapy

Robert Diasio, M.D.

Each year, nearly 300,000 patients receive the lifesaving chemotherapy 5-fluorouracil (5-FU) to treat many types of cancer, including colorectal, breast, bowel, skin, pancreatic, and esophageal cancer. While it can be an effective treatment, it doesn’t work for everyone. In fact, up to 30 percent of those who receive the standard dose can have serious, life-threatening side effects.

Robert Diasio, M.D., director, Mayo Clinic Cancer Center, has uncovered genetic variations that cause some patients to experience these serious side effects. Now using pharmacogenomics testing, which looks at how a person’s genetic traits affect their medication response, and a new gene verifier model, Dr. Diasio and his colleagues are able to test and find a safe, alternative 5-FU dose, allowing these patients to get the benefit of treatment, without harmful side effects.

“While a standard dose of 5-FU can be very effective in treating many cancers, it is challenging to predict who will have serious side effects from the therapy. That’s because genetic testing prior to therapy is not mandatory. Therefore, we’re only able to identify these patients after they’ve had therapy and experienced severe complications,” says Dr. Diasio.

A tool to identify a safe, alternative dose  

Through his laboratory research, Dr. Diasio has uncovered genetic variations in the DPYD gene that help drive how a patient processes the 5-FU therapy.

His gene verifier tool has already helped redirect care and individualize therapy for a patient with rectal cancer.

Only 5 days after starting 5-FU therapy to shrink his tumor before surgery, the patient experienced extreme fatigue, severe diarrhea and a skin rash. He was hospitalized and had to stop treatment.

Pharmacogenomics testing revealed that he had one common DPYD variant known to cause complications, along with a rare genetic mutation that may also be interfering with how he processed the medication.

Using the new model, Dr. Diasio and his colleagues were able to understand how both the common and rare variant caused the patient to process 5-FU more slowly, causing debilitating side effects.

“For this patient, the standard 5-FU dose caused an overdose of medication that was not only fighting his cancer cells, but also damaging the normal cells in his bone marrow and nervous system. Based on our model, we calculated that his dose should be reduced by 75 percent – this is a dose that physicians would never have considered without pharmacogenomics and genetic analysis,” says Dr. Diasio.

The adjusted dose allowed the patient to receive the therapy he needed after surgery to prevent the cancer from returning, with fewer side effects. Dr. Diasio and his colleagues recently published these results here.

Pharmacogenomics – helping target therapies for patients

This is just one example of how pharmacogenomics helps individualize cancer therapy for patients. It can also help physicians select from among many different therapies to target the unique genetic characteristics of a patient’s cancer.

“Our pharmacogenomics research has shown that many factors contribute to medication response and one of those is genetics. We’ve also identified how differences among ethnic groups affect response to medications like 5-FU. For example, 3 to 5 percent of Caucasians carry one DPYD gene variant that causes serious side effects, while those from African descent carry a different variant with the same risk for complications,” says Dr. Diasio.

“As new genetic variants linked to cancer and medication responses are discovered, we’ll continue to refine our individualized treatments directed at each patient’s disease.”

Read about how Mayo Clinic is moving pharmacogenomics into every day clinical care with Mayo Clinic RIGHT 10K study. 

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