Posts (123)

3 days ago · An individualized approach to preventing nausea after surgery

After surgery, most patients are eager to recover and get back to their normal routine. But, for nearly one-third of patients, anesthesia drugs make them sick to their stomach and they start vomiting. This is what physicians call post-operative nausea and vomiting. It can be an uncomfortable side effect from anesthesia or pain medications.

Some patients are at higher risk: women, nonsmokers, those with a history of motion sickness or those undergoing ear, eye or bariatric surgery. Medications are given to prevent nausea or treat it if it occurs after surgery – but not all patients get relief.

Researchers in the Mayo Clinic Center for Individualized Medicine are exploring whether a personalized approach to treat nausea after surgery will help improve recovery for all patients. They are studying the use of pharmacogenomics, the practice of understanding how each person’s genes affect how their body processes medications. This could help physicians identify better drugs to prevent nausea and vomiting.

Timothy Curry, M.D., Ph.D.

“Anesthesiologists are perioperative physicians whose job is to take care of the patient throughout the perioperative period, not just provide medications to put the patient to ‘sleep’ during surgery. Pharmacogenomics may help improve all aspects of care before, during and after surgery. As a first step, we are focusing on how pharmacogenomics may help treat post-operative nausea and vomiting. This condition is a common complaint for patients. It can not only affect how they feel immediately after surgery, but could interfere with their recovery by causing damage to the surgical area if not properly treated,” says Timothy Curry, M.D., Ph.D., a Mayo Clinic anesthesiologist and director, Mayo Clinic Center for Individualized Medicine Education Program.

A closer look at patients who undergo bariatric surgery

Since patients who have bariatric surgery are at high risk of having post-operative nausea and vomiting, Yvette Martin, M.D., Ph.D. and her research team will explore how pharmacogenomics could help reduce or eliminate nausea for these patients.

Yvette Martin, M.D., Ph.D.

“We are planning an innovative research effort that will use genetic information prior to bariatric surgery to guide treatment of post-operative nausea and vomiting. Patients will undergo genetic testing prior to surgery, and based on their test results, physicians will select an appropriate therapy to control nausea. In addition, we’ll be asking physicians to provide feedback on the benefit of using pharmacogenomics to guide patient care, with the hope of identifying any barriers to using this promising tool for future studies,” says Dr. Martin, a Mayo Clinic anesthesiologist and principal investigator for the initial research studies on post-operative nausea and vomiting.

The role of genetics

As part of this research effort, Mayo investigators are examining a gene that has been shown to affect how the body processes common medications. Studies show that the CYP2D6 gene affects how patients process ondansetron, a common medication used to prevent nausea and vomiting after surgery. That finding could guide physicians to other medications which are more compatible with a patient’s genetic blueprint.

“Some patients have a genetic variation that causes them to be ‘rapid metabolizers’ of ondansetron, meaning they process the medication very quickly. We believe the drug may not control nausea for these patients because they process it so fast. So these patients may benefit from an alternative treatment,” explains Dr. Martin. “On the other hand, we think that those patients with a CYP2D6 variation that causes them to be ‘poor or slow metabolizers’ will get better relief from nausea with ondansetron because the drug stays in their system longer.”

Researchers found early evidence of these differences after examining the genetic and surgical data of the first 1,000 participants in the RIGHT 10K study. The RIGHT Protocol (short for the Right Drug, Right Dose, Right Time: Using Genomic Data to Individualize Treatment) has enrolled 10,0000 participants whose genetic test results will be added proactively to their Mayo Clinic electronic health record for future use. The aim of the study is to see if doing so improves long-term outcomes for both the patient and the health care delivery system at large.

“Our results could help us individualize therapy for post-operative nausea and vomiting and identify alternative therapies for those who do not respond to ondansetron,” – Yvette Martin, M.D., Ph.D.

“To confirm our initial results, we’ll conduct a larger scale review by examining the genetic and surgical data from all 10,000 RIGHT study participants. Our results could help us individualize therapy for post-operative nausea and vomiting and identify alternative therapies for those who do not respond to ondansetron,” says Dr. Martin.

As part of this research effort, Dr. Martin is using information from OR Datamart, a unique database developed by Mayo anesthesiologist Daryl Kor, M.D., and his colleagues, that brings together clinical data for each patient from the Mayo Clinic surgical electronic health record system.

Join the conversation

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

See highlights from our recent Individualizing Medicine Conference 2017: Advancing Care Through Genomics:

Save the date for next year’s Individualizing Medicine Conference. It will be held Sept. 11-12, 2018.


Thu, Nov 9 8:32am · Searching for a genetic contributor to degenerative disk disease

Thank you for your interest. Research volunteers are not needed for this study.


Tue, Nov 7 10:31am · Twenty-first century precision medicine cancer care

As genomic sequencing has become faster and less expensive, physicians have used this new technology to guide and manage care for patients with cancer. Genomic testing, also known as genomic profiling, was initially used for patients with advanced cancer when standard therapy failed. The goal of the testing was to identify unique genetic characteristics of a patient’s tumor that could be targeted with alternative therapies. Now, many more cancer patients have the potential to benefit from genomic testing.  DNA testing, available through what’s known as next generation sequencing technology, is also being used to improve early detection of cancer, assess cancer risk,  monitor  response and detect recurrence.

Mitesh Borad,M.D.

In their paper Twenty-First Century Precision Medicine in Oncology: Genomic Profiling in Patients With Cancer in the October issue of Mayo Clinic Proceedings, authors Mitesh Borad, M.D., at Mayo Clinic, and Patricia LoRusso, D.O., at Yale University, provide an overview of how genomic profiling is being used in many areas of cancer care. They also highlight barriers to successful clinical implementation thus far and outline critical issues that must be addressed in future research efforts in order to advance the use of genomics to guide cancer care.

“Next generation sequencing has already enhanced our understanding of the genetic characteristics underlying cancer. To support use of this promising technology, future research efforts need to build clinical evidence to guide how next generation sequencing can most effectively be used to develop individualized approaches to cancer care,” says Dr. Borad.

Barriers to delivering targeted therapies to patients

For many patients with advanced cancer, clinical trials that include genomic testing offer the hope of finding an individualized treatment targeted at genetic characteristics of their cancer. According to the authors, only a small percentage of patients have benefited thus far from individualized therapies identified in these clinical studies.

The authors suggest that several factors may be contributing to the limited success of delivering targeted therapies using genomic profiling so far:

  • Time required consenting patients, obtaining and processing tissue samples and analyzing results.
  • Difficulty accessing drugs that are not yet approved to treat a specific type of cancer.
  • Stringent patient eligibility requirements in order to gain access to investigational drugs.
  • Focus on single-agent therapies that only target one genetic variation linked to the cancer as opposed to looking for treatments that may target all relevant pathways that could be associated with a patient’s cancer.

Critical issues for the next phase of precision cancer care

In order to build the rigorous evidence needed to support the use of genomic testing in clinical care for cancer, the authors suggest that physicians and scientists address these questions in future research:

  • Determine the benefit of using genetic panels versus more comprehensive genetic testing methods: Next generation panels, which look at a defined set of genes that may be linked to a specific type of cancer, can generate results in less than two weeks. In contrast, whole exome sequencing, which looks at all known genes associated with disease, may provide a more comprehensive approach to searching for genetic variations linked to a disease or response to a specific therapy. However, it can take several weeks for results from these comprehensive tests.
  • Analyze both tumor and normal tissue to guide care decisions: By comparing genomic sequencing results for both normal and tumor tissue, researchers may gain a more accurate picture of genetic variations underlying a patient’s cancer and reduce the number of false-positive genetic findings.
  • Analyze multiple tumor samples rather than a single tissue biopsy: Cancers differ in their molecular characteristics. For example, key genetic mutations may differ between tumors in the same patient or even between different samples of the same tumor. Therefore, several tumor samples may give a more accurate picture of a patient’s cancer.
  • Take a bigger picture approach to looking at genetic causes of cancer: The authors highlight the importance of using genome-wide analysis to explore all genetic links underlying a patient’s cancer rather than only exploring single gene variations to search for potential treatment targets.
  • Data sharing and privacy concerns: The authors highlight the need to share research findings and data across institutions in order to advance the use of genomic testing in cancer care, while also putting systems in place to ensure patient privacy and data security.

Mayo Clinic Proceedings Symposium on Precision Medicine 

This paper is the sixth in Mayo Clinic Proceedings Symposium on Precision Medicine, a series of articles that cover a wide range of topics in personalized medicine. Watch for upcoming articles in the symposium, which will focus on how personalized medicine and genomics are impacting patient care. Learn more about the series.

Join the conversation

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

See highlights from our recent Individualizing Medicine Conference 2017: Advancing Care Through Genomics:

Save the date for next year’s Individualizing Medicine Conference. It will be held Sept. 11-12, 2018.



Fri, Oct 27 11:41am · Searching for a genetic contributor to degenerative disk disease

Mohamad Bydon,M.D., with 3-D models of the spine and neck.

Most people suffer from some type of back pain during their lifetime. That’s because there are many joints in the back that can degenerate over time. In many cases, back pain can be relieved without surgery. Ice packs, heat packs, physical therapy or injections can offer relief. However, for those who suffer from degenerative disk disease, in which the tissue in a disk in the lower back breaks down, there are few treatment options. These patients may suffer chronic, debilitating pain that can impact quality of life.

According to Mohamad Bydon, M.D., the genetic signatures which underpin the disease remain unclassified, especially for young patients who develop the condition. That’s why Mayo Clinic Center for Individualized Medicine is supporting research to identify molecular changes associated with the condition, with the hopes of finding new individualized therapies.

“Young patients can develop degenerative disk disease. As a multidisciplinary team, we are examining whether certain genetic events predispose patients to this condition,” says Dr. Bydon, a Mayo Clinic neurosurgeon and a member of the research team exploring individualized therapies for degenerative disk disease.

Genomic testing could help find answers, new treatments

During surgery to repair disk damage, Dr. Bydon and his colleagues are obtaining samples of disk tissue for genomic testing to help answer these questions:

  • Is there a genetic signature that is causing disks in the spine to deteriorate early in life?
  • Do patients without the disease have some type of protective biological characteristic that prevents disk deterioration that those with degenerative disk disease don’t have?
  • Can new therapies be developed to target genetic factors and molecular processes causing the disease to slow down or reverse disk damage?

According to Dr. Bydon, this research could be especially important for patients for whom corrective surgery doesn’t work or isn’t a good choice.

“Many older patients have other complex health conditions, making them poor candidates for surgical treatment. Targeted therapies would offer these older patients a new, safer option for treatment and could help reduce their pain and improve their quality of life,” says Dr. Bydon.

Teamwork key to advancing care

“Support from the Center for Individualized Medicine has allowed us to bring together clinicians and researchers from across Mayo Clinic to help patients with degenerative disk disease find relief from their painful symptoms and return to their daily activities. This collaboration to solve unmet patient needs is what sets Mayo apart.” – Mohamad Bydon, M.D.

Dr. Bydon is collaborating with a multidisciplinary team that includes neurosurgeons, orthopedic surgeons, physiatrists (experts in the diagnosis, prevention and treatment of disabilities of all types), biomedical engineers, geneticists, genetic counselors and bioinformatics experts.

“Support from the Center for Individualized Medicine has allowed us to bring together clinicians and researchers from across Mayo Clinic to help patients with degenerative disk disease find relief from their painful symptoms and return to their daily activities. This collaboration to solve unmet patient needs is what sets Mayo apart – we are able to pool expertise to help improve the lives of our patients. We hope this research will lead to new treatment options for patients,” says Dr. Bydon

Joining Dr. Bydon in this research effort are Mayo researchers Andre van Wijnen, Ph.D.A. Noelle Larson, M.D.Ahmad Nassr, M.D., and  Wenchun Qu, M.D., M.S., Ph.D.

Join the conversation

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

See highlights from our recent Individualizing Medicine Conference 2017: Advancing Care Through Genomics:

Save the date for next year’s Individualizing Medicine Conference. It will be held Sept. 11-12, 2018.


Wed, Oct 11 7:06pm · #CIMCon17 – precision medicine for smoking cessation, rare diseases and cancer screening

Ever wonder why some people can quit smoking while others try repeatedly without success?  The answer may be related to your genetic makeup. Studies have shown that 70 percent of smokers want to quit, but only three percent are successful each year. That’s according to Rachel Tyndale, Ph.D., professor of Pharmacology and Psychiatry, Centre for Addiction and Mental Health at University of Toronto. Her research has some fascinating new evidence that could lead to individualized therapies that will help those who struggle to kick the habit.

Dr. Tyndale and her research team have uncovered genetic mutations linked to smoking behavior. They have taken this information a step further by conducting pharmacogenomics studies to identify how these genetic mutations impact the way a person responds to different smoking cessation treatments.

For example, people with the CYP2A6 genetic variant that metabolizes – or processes – nicotine from a cigarette slowly:

  • Have a lower risk of being an adult smoker
  • Smoke fewer cigarettes and have a lower risk of dependence
  • Have a lower risk of tobacco-related diseases, such as lung cancer, COPD, diabetes and obesity
  • Have an increased chance of successfully stopping smoking on their own or using a nicotine patch to slowly wean themselves off the drug

On the other hand, research shows people with another genetic variant who process nicotine faster are much more dependent on smoking. They tend to smoke more often and are at higher risk for developing tobacco-related diseases. In addition, these smokers do not benefit from the patch, but do respond to other medications.

Dr. Tyndale emphasized that while pharmacogenomics testing is not widely used clinically to help smokers who want to quit, this approach holds promise in helping identify new therapies that are shaped to how an individual processes medications.

Desperate for answers – improving diagnosis of rare diseases

Some patients and their families search for years for answers to unexplained, often debilitating symptoms. William Gahl, M.D., Ph.D. and his research team meet with these patients, hoping to find a diagnosis for their rare disorders. Dr. Ghal is clinical director of the National Institutes of Health (NIH) Undiagnosed Diseases Program, which sees 1,100 patients per year. Forty percent of these patients are children and half of the patients have neurological disorders.

Dr. Gahl and his team have played a significant role in advancing medical knowledge about both rare and common diseases. Many of the disease pathways uncovered when diagnosing rare disorders can be seen in more common conditions.

“The greatest satisfaction is when we can provide a diagnosis to patients and their families – even if there is no treatment, a diagnosis can bring great relief,” says Dr. Gahl.

The program’s multidisciplinary team has been critical to their success.

“We can accomplish in one week what might take a year in clinical practice,” says Dr. Gahl.

After establishing the Undiagnosed Disease Program in 2008, NIH extended the program’s reach by establishing the Undiagnosed Disease Network in 2012. The network includes seven centers throughout the United States.

Because of the great need, NIH collaborated with the Wilhelm Foundation in Sweden in 2015 to expand research into rare diseases by creating the Undiagnosed Disease Network International. Researchers from Mayo Clinic Center for Individualized Medicine are participating in this international effort to collaborate and share data on rare diseases in order to solve more unexplained medical cases.

Liquid biopsies for cancer screening and treatment: a panel discussion

The afternoon session concluded with a panel discussion about the exciting field of research surrounding liquid biopsies, including cell-free DNA tests and tests designed to detect circulating tumor cells in the blood stream. The panel included:

  • Minetta Liu, M.D., associate professor of Oncology, Mayo Clinic
  • Muhammed Murtaza, M.B.B.S., Ph.D., assistant professor of Medicine, Mayo Clinic, and co-director of the Center for Noninvasive Diagnostics at TGen
  • Richard Williams, MB.B.S., Ph.D., medical director at GRAIL, Inc.

While these tests are currently being used to identify specific genetic mutations in advanced cancer, they have great potential in the future to be used in the full range of cancer care, including screening for early cancer detection, monitoring of cancer growth and recurrence, identification of targets for therapy and measuring treatment response.

Advantages of the tests highlighted during the discussion include the ability to:

  • Obtain a more accurate picture of cancer activity
  • Find cancer earlier, before it appears on an imaging study
  • Perform a less invasive test, posing fewer risks
  • Lower cost and reduce turnaround time for results
  • Potentially replace or complement traditional screening methods, such as tissue biopsy or imaging studies
  • Increase access to cancer screening and monitoring to more patients, especially those who do not have access to a large medical center

Panelists agreed that in order to bring this promising new testing method into clinical practice, researchers need to collaborate in large-scale clinical studies to verify the value of these tests and develop guidelines to bring them into clinical practice.

Keep the conversations going

For a wrap up and summary of  news related to the conference and the Mayo Clinic Center for Individualized Medicine, visit our blogFacebookLinkedIn or Twitter at @MayoClinicCIM and use the hashtag #CIMCon17.

The Mayo Clinic Center for Individualized Medicine is hosting the conference with support from the Jackson Family Foundation.

Don’t forget to save the date for #CIMCon18, which will be held Sept. 11-12, 2018.


Tue, Oct 10 9:43pm · #CIMCon17 day two explores how precision medicine can improve population health

Moderator Cathy Wurzer, anchor for Minnesota Public Radio, welcomes conference attendees to #CIMCon17.

Sharing cutting-edge research, clinical practice insights and networking continued at the second day of Individualizing Medicine 2017: Advancing Care Through Genomics, a conference hosted by the Mayo Clinic Center for Individualized Medicine in Rochester, Minnesota.

Empirical data critical to advancing genomic medicine

Robert Green, M.D., started the morning sessions by acknowledging that there are still many who are skeptical about the value of genomic medicine. It isn’t clear whether genomic information will be misunderstood by both physicians and patients and whether the benefits of genomic testing will outweigh the potential harm and costs.

That’s where empirical data, both on a large and a small scale, can help demonstrate where genomic testing can offer the most benefit, according to Dr. Green, who is director, Genomes2People Research Program and a medical geneticist at Brigham and Women’s Hospital and Harvard Medical School.

Today, genomic testing is used most often on an individual basis to diagnose and treat conditions such as cancer and rare disorders. Dr. Green is studying how genomic testing can improve overall health for large groups of people. He shared compelling results from his research, beginning with the REVEAL study which explored the value of informing participants whether they had a genetic mutation that put them at risk for developing Alzheimer’s disease. His work showed that people were not only willing to learn about their potential risk of disease, they were willing to make lifestyle and other changes in response to findings.

Dr. Green was one of the first to lead a study exploring the impact of direct-to-consumer genomic tests, also known as home DNA kits. The PGen study found:

  • Most people understood the results they were given.
  • Participants valued ancestry and nonmedical information that was provided.
  • Participants did not change their medications or their current disease screening practices based on their results.
  • Participants claimed to improve their diet and exercise routine – regardless of the results they received about their genetic risk.
  • Primary care providers were unprepared and frustrated when asked to interpret results for participants.

To explore the benefit of using genomic testing in everyday clinical care, Dr. Green and his team conducted the MedSeq study, which revealed that 21 percent of participants had one of the 4,600 genetic mutations they tested for that are linked to risk for developing disease – valuable information that could improve diagnosis and treatment in the future. This study showed that participants in genomics studies have serious concerns about their privacy, the security of their data and possible discrimination for future insurance coverage based on their results.

Dr. Green is also studying how genomics may help improve overall population health by genomic testing of newborns in the BabySeq study, with the aim of diagnosing and treating disease early on. His work is already illustrating the value of returning incidental findings. For example one of the infants and the infant’s mother had the genetic mutation BRCA1, which increases the risk for developing breast and ovarian cancer. According to Dr. Green, this discovery would not have been made without genomic testing as the mother’s family medical history was incomplete.

When asked about the future of genomic medicine, Dr. Green concluded “We are living on a perpetual moving edge of technology, and we are going to have to learn how to live with uncertainty and lift the borders between research and clinical care, a place many researchers and clinicians are still not comfortable.”

All of Us Research Program – extending precision medicine to all

Stephanie Devaney, Ph.D., deputy director, National Institutes of Health All of Us Research Program, provided an update on this unprecedented national program that is enrolling a million people into a research cohort to advance an individualized approach to managing health and disease. The All of Us Research Program bioank at Mayo Clinic will store 35 million biospecimens used in the research.

Eric Dishman, director of the program, shared a video message emphasizing his strong belief in the program’s mission on both a personal and professional level. For Dishman, genomic medicine helped uncover the right treatment for his rare kidney cancer – only after he endured 23 years of what he called failed cancer treatments. The All of Us Research Program is ramping up the national launch in spring 2018.

Dr. Devaney explained that the unprecedented program will:

  • Deliver a national resource of clinical, environmental, lifestyle and genetic data on one million participants who are engaged and committed to providing long term health data.
  • Reflect the broad diversity of the U.S. by including participants from all ages, races, ethnicities, genders, socioeconomic groups, geographies and health status, with an effort to engage underrepresented minority populations through community partners.
  • Build the tools and capabilities that make it easy for all researchers from citizen scientists to premier university labs to make discoveries using the data and biospecimens from the program.

Dr. Devaney emphasized that participant privacy is a priority, with data security being integrated into all phases of the program. Participants will also get back information important to their individual health.

Keep the conversations going

For a wrap up and summary of  news related to the conference on the Center for Individualized Medicine, visit our blogFacebookLinkedIn or Twitter at @MayoClinicCIM and use the hashtag #CIMCon17.

Tue, Oct 10 7:54am · #CIMCon17 continues with the microbiome and more

David Relman, M.D., the Thomas C. and Joan M. Merigan Professor in the Departments of Medicine, and of Microbiology and Immunology at Stanford University, discusses the influence of the microbiome on health and disease.

Our microbiome – the community of trillions of bacteria in and on our bodies – and how they impact our health and disease was the focus of discussion at yesterday’s  afternoon’s plenary sessions at Individualizing Medicine 2017: Advancing Care Through Genomics, a conference sponsored by the Mayo Clinic Center for Individualized Medicine.

The microbiome as your personal landscape

David Relman, M.D. kicked off the afternoon sessions encouraging all health care providers in the audience to view themselves as park rangers, tasked with managing the microbiome landscape of their patients. That’s because research in this emerging field has demonstrated that a stable, healthy microbiome plays a role in maintaining our digestive and immune systems, but an unstable microbiome could lead to disease.

Dr. Relman, the Thomas C. and Joan M. Merigan Professor in the Departments of Medicine, and of Microbiology and Immunology at Stanford University, added that if we can understand the microbiome landscape, we can better anticipate or predict how it will respond to changes.

For example, he and his research team have examined links between the microbiome and premature births.  They found differences in the vaginal microbiomes of pregnant women, showing that women who go into preterm labor have some distinct bacterial differences that may impact a baby’s health and development. By considering these differences among many other factors that could lead to preterm labor, Dr. Relman hopes to develop a way to identify women at risk in order to prevent it or reduce any negative implications for the mother and baby.

Dr. Relman also discussed the importance of studying how medications like antibiotics or changes in our environment affect your microbiome. Understanding changes in the community of bacteria may shed light on ways to prevent disease and maintain or restore overall health.

Ignore your microbiome – and you ignore 99 percent of your system

Your body is made up of 22,000 genes that never change and 2 to 20 trillion microbial genes that are continually changing. In fact, each part of your body harbors a unique, diverse microbiome. Over the last decade, the microbiome has been linked to many diseases, including obesity, multiple sclerosis, Parkinson’s disease and depression.

All of these facts suggest you should not ignore your microbiome’s influence on your health, according to Rob Knight, Ph.D., director, Center for Microbiome Innovation, University of California, San Diego.

Dr. Knight explained that thus far researchers have unlocked many factors that influence the makeup of bacteria in your microbiome, including your age, your diet, how much sleep you get, your alcohol consumption and how frequently you exercise.

He added that the key to unlocking the importance of the microbiome is to not only understand why it changes, but also learn how to predict and control the changes to promote overall health.

So how will we use knowledge about our microbiome to manage our health in the future? Dr. Knight predicts in the next 10 years, researchers  will develop tools that serve as a “microbiome GPS” that combine genetic sequencing technology with artificial intelligence to provide you with immediate feedback. After providing a sample of bacteria, you would learn whether your microbiome was healthy or if you need to add some form of “good bacteria” to restore a stable bacterial community.

Inflammatory bowel diseases – how precision medicine may help improve care

Judy Cho, M.D.  addressed how an individual approach to chronic inflammatory bowel diseases holds promise for patients.  These diseases, which include Crohn’s disease and ulcerative colitis, affect 3 million Americans with ongoing, often painful symptoms. While new biological therapies have helped improve treatment for some, there is still a need for new, more effective therapies. Many patients require surgery and ongoing treatment with medications to manage their symptoms and to prevent the diseases from worsening.

Dr. Cho highlighted how testing has led to the discovery of genetic links to these conditions and the development of new, targeted therapies. Going forward, she believes genetic testing will also help identify biomarkers which can be used to help detect these conditions sooner and also direct patients to the right therapy. According to Dr. Cho, this approach may help patients achieve a complete remission from their condition, a new goal for providers.

In addition to focusing on the individual patient, Dr. Cho discussed the importance of looking at these diseases from the population perspective. For example, people with an Ashkenazi Jewish heritage, have a significantly higher risk of developing the disease. As Dr. Cho explained, if patients with this ancestry could be pre-emptively tested, more patients could be diagnosed and treated earlier, a critical step in reducing the health burden from these conditions.

The conference continues – more presentations and breakout sessions today

Mayo Clinic Center for Individualized Medicine is hosting the conference with support from the Jackson Family Foundation.



Tue, Oct 10 6:13am · #CIMCon 17 is underway

“Genomic medicine is already part of mainstream medical care,” says  A. Keith Stewart, M.B., Ch.B., in his opening remarks at the sixth Individualizing Medicine 2017: Advancing Care Through Genomics, a conference hosted by the Mayo Clinic Center for Individualized Medicine.

Dr. Stewart, the Carlson and Nelson director of the Center for Individualized Medicine, kicked off the conference yesterday by sharing with more than 550 attendees how genomic medicine is already part of patient care in four key areas:

#1: Cancer care

  • Advanced genomic tests for more precise cancer diagnosis and treatment
    Stewart highlighted a new clinical test developed at Mayo Clinic using mate pair sequencing, which identifies genetic defects and chromosomal breaks linked to cancerous tumors. This information can pinpoint exact disease-causing genes, opening up new possibilities of individualized therapies targeted to precise genetic mutations. The test is already making a difference for patients, revealing genetic mutations that offer patients new options with targeted treatments.
  • Blood tests to find cancer and its recurrence at the earliest possible stage
    Cell-free DNA (cfDNA) tests that identify pieces of DNA shed into the bloodstream by cancerous tumors are offering the hope of tracking cancer as early as possible ─ when it is most treatable. Mayo Clinic researchers and clinicians are working collaboratively to develop blood tests ranging from those that detect single changes (mutations) in single genes to those that look for thousands of mutations in hundreds of genes. The first test launched in the clinical lab detects a specific change in the BRAFgene, primarily linked to melanoma. The cfDNA BRAF test offers a convenient, less costly and potentially more accurate picture of cancer activity that can help identify appropriate targeted treatments for advanced disease. Follow-up clinical tests in colorectal cancer, lung cancer and breast cancer will be available shortly.

#2: Diagnosis of rare and unexplained disorders

DNAs sequencing is being used more commonly in clinical care to solve cases of unexplained medical conditions. Mayo Clinic’s rare and undiagnosed disease program has seen a 30-fold increase in caseload from 2012 to 2016 — and has surpassed evaluating its 1,500th patient. Genomic testing has revealed a diagnosis in approximately 30 percent of patients, all who had been unable to find a diagnosis with traditional clinical testing. Mayo’s Unsolved Case Team is deploying innovative research strategies to find answers for other elusive diagnoses.

Genomic sequencing has expanded beyond finding a diagnosis for rare diseases, to include conditions for which there is no definitive cause or cure like chronic liver disease and inflammatory bowel disease. With specialized genomics clinics for many gastrointestinal diseases, multidisciplinary teams of clinicians and researchers are using genetic testing to find a cause and then develop personalized care plans for many conditions.

#3: Drug-gene testing for more precise medications

With more than 1.5 million adverse drug events each year as a result of medications, Dr. Stewart emphasized the importance of selecting the right medication for each patient to maximize the treatment benefit and avoid harmful side effects. Pharmacogenomics uses DNA tests to help clinicians select medications that will reduce the risk of adverse side effects and increase efficacy for patients—based on their genetic makeup. Over the past year, Mayo Clinic has led efforts to apply pharmacogenomics testing proactively to improve patient care broadly and in many subspecialties, such as pediatric gastrointestinal disorders, liver disease and neurosurgery.

Illustrating the benefit of pharmacogenomics testing, Dr. Stewart pointed to his own experience having his genome sequenced which revealed new information about his sensitivity to certain medications.

#4: Predicting disease

As genomic testing has become faster and cheaper, it is becoming more accessible to healthy people who want to better understand their own health and risk of disease. Whole-genome sequencing looks at a patient’s entire genetic makeup for information on inherited conditions, genetic variants that drive cancer, and links to disease.

Dr. Stewart emphasized how genomic sequencing could help physicians be proactive in screening for and treating many conditions. For example, many inherited cancers are missed with traditional clinical testing. Preemptive genetic testing could identify whether a patient is at risk for an inherited cancer, allowing for more frequent cancer screening and earlier treatment, when it can be most effective.

Geisinger’s MyCode Community Health Initiative

David Ledbetter, Ph.D., executive vice president and chief scientific officer, Geisinger Health System, echoed Dr. Stewart’s emphasis on the value of preemptive genomic sequencing. Dr. Ledbetter leads Geisinger’s MyCode Community Health Initiative, an innovative research effort that has already revealed lifesaving information for participants. The project will leverage twenty years of electronic health information with DNA sequencing data for each participant to find the best way to deliver cost-effective, precision medicine healthcare within a health system setting. More than 160,000 participants are already enrolled, more than half way to program’s goal of 250,000 participants.

Dr. Ledbetter explained that MyCode Health initiative found the following to be the most common conditions:

  • Familial hypocholesteremia (inherited high cholesterol)
  • Inherited breast cancer
  • Inherited ovarian cancer
  • Cardiovascular disease

According to Dr. Ledbetter, the program has already saved the life of a 57 year old grandmother and MyCode participant.

Genomic testing showed that she had a BRCA1 genetic mutation, increasing her risk for developing breast and ovarian cancer. While her mammogram was negative, she still elected to proactively have her ovaries removed to ensure that she would stay healthy to raise her grandchildren. During surgery, a golf ball sized ovarian cancer tumor was discovered and removed. Because the cancer was caught early, Barnes’ cancer can be successfully treated.

As Dr. Ledbetter pointed out, since Barnes’ did not have a family history of breast or ovarian cancer, she never would have suspected that she was at risk for either type of cancer. That’s why this is a perfect example of how pre-emptive genomic testing can improve care.

The conference continues – more presentations and breakout sessions today

Mayo Clinic Center for Individualized Medicine is hosting the conference with support from the Jackson Family Foundation.






















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