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Thu, Aug 9 6:00am · Using CSI-type technology to unravel the source of bacteria

This article originally appeared on the Center for Individualized Medicine blog on May 28, 2018.

Mayo Clinic laboratory workers have a new tool to perform high tech genetic sleuthing for the source of stubborn, sometimes life-threatening bacteria. Bacterial whole genome sequencing can trace individual isolates of bacteria such as Staphylococcus aureus, also known as Staph aureus, to determine if an outbreak is occurring. This common bacterium that has plagued health care facilities, nursing homes, neonatal intensive care units and sports teams can lead to serious infections and can be resistant to some available antibiotics.

Robin Patel, M.D.

“If we have two or more people infected with the same type of bacterium, the question sometimes arises as to whether they got the organisms from one another or a shared source. The answer to this question can shape an approach to limit further spread,” says Robin Patel, M.D., a clinical microbiologist with Mayo Clinic Department of Laboratory Medicine and Pathology. “Or, a patient might have a bacterial infection and later a second infection with the same type of bacterium. Whole genome sequencing can determine whether the patient picked up a new ‘version’ of the bacterium or if the old one never went away. This can matter for management of that patient.”

Staph aureus bacteria are a leading cause of skin and underlying infections, such as boils, abscesses and cellulitis. Often this type of infection is not serious. However, the same organism-type can cause more serious infections, such as bone or joint infections. Sometimes Staph aureus can spread to the bloodstream and become life threatening.

In the past, getting to the source of outbreaks and transmission was tricky. Prior to bacterial whole genome sequencing, lab workers had to rely on a type of molecular testing, called pulsed-field gel electrophoresis, that was tedious, difficult to analyze and produced only a fraction of the information that DNA sequencing does.

Nicholas Chia, Ph.D.

“It is important to develop tests that can distinguish how individual bacteria are related to one another and to understand and control the spread of bacterial infections,” says Nicholas Chia, Ph.D., assistant director of the Center for Individualized Medicine Microbiome Program.

Mayo Clinic Center for Individualized Medicine is working with the Mayo Clinic Department of Laboratory Medicine and Pathology to bring to the medical practice new testing methods that look at the entire genomes of human pathogenic bacteria.

“With microbial whole genome sequencing, we can discover all there is to possibly know about an organism. It is cutting edge technology that’s a little like CSI (crime scene investigation) in a way. We are providing information to assess relatedness, which will in turn direct interventions to interrupt transmission,” says Dr. Patel.

Research has shown that whole genome sequencing can help track the source of the stubborn superbugs such as methicillin-resistant Staphylococcus aureus, or MRSA, outbreaks that have been reported in high school, college and professional sports teams, in addition to in health care facilities. Many times, MRSA infection is spread via turf, locker room towels or personal contact between athletes. Whole genome sequencing can confirm the presence of an outbreak.

“Examining the entire bacterial genome, we will, in the near future, be able to identify resistance genes and mutations, therefore defining which antibiotics are going to be active. Our early research indicates that we can use whole genome sequencing to inform drug selection and therefore how that patient should be treated. It is so new, we’ve elected to look at this application separately from the strain relatedness testing approach we are currently performing,” says Dr. Patel.

Mayo Clinic is one of the first medical centers in the United States to routinely perform whole genome sequencing of Staph aureus bacteria in its clinical labs. The tests for this and other bacteria are available to other health care facilities through Mayo Medical Laboratories.

Additional research can be found here.

Join the conversation

For more information on the Mayo Clinic Center for Individualized Medicine, and how it is transforming care through the discovery, translation and application of precision medicine research, visit our blogFacebookLinkedIn or Twitter at @MayoClinicCIM.

Save the date for this year’s Individualizing Medicine Conference. It will be held Sept. 12-13, 2018 in Rochester, Minnesota.

Thu, Jul 19 8:00am · A clearer picture: new imaging technologies advance diagnosis, individualized care

New imaging technologies are advancing diagnosis and individualizing care. Imaging tests – such as a CT scan or MRI – are essential tools that health care providers use to answer complex and challenging questions.

Gabriel Krestin, M.D., Ph.D.

Gabriel Krestin, M.D., Ph.D., a radiologist and researcher, is at the forefront of new efforts to apply cutting edge imaging technologies that can detect subtle biological and molecular changes to more accurately diagnose and treat disease. At this year’s Individualizing Medicine Conference: Advancing Care through Genomics, Dr. Krestin will discuss his work on integrating new imaging methods to identify objective, quantitative, and standardized features available in digital images – called imaging biomarkers – that can be important to predict complex diseases, their outcome and monitor treatment. The conference will be held September 12 and 13 at the Mayo Civic Center.

New techniques offer a better view of disease

Historically, imaging has been used by physicians to visualize anatomy without even picking up a scalpel. Within the past several decades new imaging methods are providing a better look at the size, location and biological characteristics of normal and disease processes within the body.

“New imaging techniques offer important information about the physiology, organ function, and biological and molecular functions, allowing us to predict disease long before symptoms appear,” explains Dr. Krestin.


Sponsored by the Brandt Family Scholars Fund, the Early Career Investigators in Precision Medicine Scholarship Program is looking for early-career investigators with an interest in individualized medicine. Awardees will present their research-based or challenging case as a poster and/or concurrent platform presentation at the Individualizing Medicine Conference.

Deadline to apply is July 30 at Abstract Scorecard.

The Brandt Family Scholars Fund seeks to encourage and support early career investigators in precision medicine discovery or translation. See the Individualized Medicine Blog for past awardee information.

These imaging biomarkers are playing a key role in precision medicine research and practice, helping to reveal subtle differences that can indicate the best individualized approach for choosing the right therapy.

“This “deep imaging phenotyping” is at the basis of the emerging field of radiomics, allowing us to play an increasing role in prediction of disease, of outcomes and of therapy response. Using aartificial intelligence and computational methods, we can integrate imaging data with genomic, clinical and environmental information to provide new knowledge to guide patient care. The key to the success of this new ‘data driven medicine’ approach is collaboration among multiple specialists to interpret these results and then develop individualized treatment plans for patients,” says Dr. Krestin.

An opportunity to learn from a leader

Kiaran McGee, Ph.D., director of the Center for Individualized Medicine Imaging Biomarker Discovery Program, notes that Dr. Krestin’s research has focused on imaging of abdominal organs and cardio-vascular diseases, molecular imaging and population imaging.

Kiaran McGee, Ph.D.

“Dr. Krestin has worked at many leading academic medical institutions and serves on many advisory boards, allowing him to have his finger on the pulse of advances in radiological imaging and how these new techniques can be applied to improve personalized patient care,” says Dr. McGee.

Dr. Krestin is a professor of Radiology and Chairman of the Department of Radiology and Nuclear Medicine at Erasmus MC, University Medical Center Rotterdam, in the Netherlands. In 2017, he was elected to the National Academy of Science, Engineering and Medicine (US). He has authored more than 400 publications and over 70 book chapters.


Register now for the Individualizing Medicine Conference, Sept. 12-13, 2018, in Rochester, Minnesota.

Thu, Jul 12 6:00am · Arresting melanoma's molecular drivers

This post originally appeared on the Center for Individualized Medicine blog on May 15, 2018.

Article by Barbara Toman

Melanoma, the skin cancer often associated with sun exposure, is on the rise and has no reliable cure. Mayo Clinic is at the forefront of efforts aimed at increasing early detection and treatment of this aggressive disease.

The Center for Individualized Medicine (CIM) is unravelling the complex behavior of melanoma at the molecular level— to allow for treatment that better targets an individual’s disease.

Aleksander Sekulic, M.D., Ph.D.

“All melanomas are not the same. The ability to understand what may be driving different subsets of melanoma at the molecular level allows us to use treatment appropriate for a particular patient,” says Aleksander Sekulic, M.D., Ph.D., a dermatologist in the Cancer Center and assistant CIM director at Mayo Clinic in Phoenix, Arizona.

About 90,000 people are diagnosed with melanoma and more than 9,000 people die from the disease in the United States every year, according to the American Cancer Society. The incidence has been rising for the past 30 years, especially among young people.

“If melanoma isn’t caught very early, it tends to spread. ‘Early’ means melanoma on the skin with a thickness of less than 1 millimeter — which is essentially three grains of table salt,” Dr. Sekulic says. “We need to develop better therapies because we know that even recent advances that are nothing short of miracles will work only in a subset of patients, not all patients.”

One recent advance is the development of immunotherapies — medications that stimulate a person’s immune system to recognize and destroy cancer cells more effectively — which can benefit some people with melanoma. Another advance involves the discovery that about half of people with melanoma have an abnormal version of a gene known as BRAF.

“The BRAF mutation essentially acts like a switch that is stuck in the ‘on’ position and promotes abnormal cell growth,” Dr. Sekulic says. “Therapies that turn off the mutated BRAF molecule — cutting the growth signal for cancer — have significant efficacy in people whose melanoma harbors the BRAF mutation.”

But those medications, known as BRAF inhibitors, can actually worsen melanoma in patients without the BRAF mutation. Currently, treatment options are very limited for people whose melanoma doesn’t harbor the BRAF mutation and who don’t respond to immunotherapies.

To pave the way for new treatments, Mayo Clinic is involved in a large trial aimed at identifying additional molecular drivers of melanoma. The trial is gathering genetic information from people with melanoma who lack the BRAF mutation.

“We want to merge information about other genetic alterations that might be present in those individuals’ cancers with our knowledge of drugs that are currently available. The goal is to identify a target we haven’t anticipated in melanoma that might respond to an existing medication,” Dr. Sekulic says.

The researchers are discovering that for now, their knowledge of melanoma’s molecular drivers is outpacing drug development. “There is a bottleneck — we have learned much more about melanoma than we can act on,” Dr. Sekulic says. “But the drug development is rapidly catching up.”

He notes that individualized treatment of diseases was made possible by the sequencing of the human genome, which occurred just 15 years ago. “I would guess that within 10 years we will be in a very different place than we are now in terms of melanoma treatment,” Dr. Sekulic says.

Liquid biopsy for the BRAF mutation

Mayo Medical Laboratories has developed a “liquid biopsy” to detect the BRAF mutation in a blood sample. Assessing BRAF mutation status in people with melanoma typically involves removing cancerous tissue for testing in the laboratory.

“This new technology provides an opportunity to limit invasive tissue biopsies and get the necessary information from a simple blood test,” says Minetta C. Liu, M.D., an oncologist at Mayo Clinic, who helped develop the test. “In an individual with newly diagnosed melanoma that’s progressing rapidly, we may not have time to arrange a tissue biopsy and wait several days for the tissue results. Now, we can reliably determine BRAF mutation status through that blood draw within a day.”

Further work is underway to determine how best to use the test clinically. One possibility is using the blood test to assess the effectiveness of treatment in people with BRAF mutant melanoma.

Minetta Liu, M.D.

“Gradual disappearance of a detectable BRAF mutation in the blood suggests that the cancer cells are responding, and the patient is benefitting from current therapy. This seems intuitive, but we have to prove it,” Dr. Liu says. “It’s such a rapidly evolving field. We’re working to make this blood test part of clinical guidelines to take better care of patients.”

Lessons from down under

Dr. Sekulic stresses that melanoma is largely preventable. The major risk factor is exposure to ultraviolet (UV) rays, and the major source of UV rays is sunlight.

“The most efficient way to reduce the burden of melanoma is sun protection,” Dr. Sekulic says. “Previous UV exposure, especially sunburns early in life, can make a dramatic difference in a person’s risk for melanoma.”

Australia has curbed its incidence of melanoma through campaigns advocating sun-protective clothing, sunscreen and sun avoidance. “These are very simple methods,” Dr. Sekulic says. “Protecting our children from UV rays is where we ultimately will have the largest impact on melanoma.”

Join the conversation

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

Learn more about the latest clinical applications of precision medicine at this year’s Individualizing Medicine Conference. It will be held Sept. 12-13, 2018.

Fri, Jun 22 3:47pm · Be the early bird! Register now for the 2018 Individualizing Medicine Conference

Mayo Clinic Center for Individualized Medicine  is hosting the Individualizing Medicine Conference (#CIMCON18), Sept. 12-13, 2018, in Rochester, Minnesota.

#CIMCON18 brings together experts from Mayo Clinic and around the world to discuss how the latest discoveries in precision medicine can be applied to improve patient care.

Register today for the conference and save $100

Use code EB100 before June 29!

In her plenary presentation at #CIMCON18, Nancy Cox, Ph.D., will explain how biobank research offers a unique opportunity to explore links between multiple diseases.

There is no single gene that causes diabetes, bipolar disorder or Alzheimer’s disease, but there are genes linked to conditions that may occur before a patient eventually develops these disorders. What if researchers could identify individuals whose genetic makeup puts them at risk for developing disease so that physicians could intervene sooner and provide more effective treatment?

These are the questions that Nancy Cox, Ph.D. and her research team at Vanderbilt University are asking as they analyze tissue samples and electronic medical record data for thousands of biobank participants in order to better understand genetic risks for many common diseases. As Director of both the Vanderbilt Genetics Institute and Division of Genetic Medicine, Dr. Cox studies the individual and collective genetic and health information of biobank participants.

Read more about Dr. Cox and her research.

For a complete schedule and list of speakers, visit the conference website.

Follow the latest news related to the conference on the Center for Individualized Medicine blogFacebookLinkedIn or Twitter at @MayoClinicCIM and use the hashtag #CIMCON18.


Tue, Jun 12 8:00am · Genetic testing to enhance multiple myeloma treatment

This article originally appeared on the Center for Individualized Medicine blog on March 6, 2018

Article by Barbara Toman

Multiple myeloma is the second most common blood cancer, but most people haven’t heard of it until they or someone they know is diagnosed with the disease. March is Myeloma Action Month — a time to focus attention on the fight against multiple myeloma.

Mayo Clinic is making significant advances with an individualized medicine approach. In recent years, Mayo researchers and others have uncovered a wealth of information about the genetic mutations that help multiple myeloma cells survive and multiply. Now, Mayo Clinic has translated those discoveries into clinical testing to personalize care.

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

“Multiple myeloma has some of the most advanced genomic information available among all cancers. We have condensed that large genomic database into a test panel to detect genetic mutations that have relevance to prognosis and to optimal drug therapies for individual patients,” says Keith Stewart, M.B., Ch.B., a multiple myeloma specialist and director of the Mayo Clinic Center for Individualized Medicine (CIM).

The test panel, available through Mayo Medical Laboratories, uses next-generation sequencing to pinpoint genetic mutations within an individual’s tumor. The mutations make an individual likelier to respond to — or likelier to resist — the effects of a particular drug.

“The panel will detect mutations that have relevance to prognosis, to drug sensitivity and resistance, and to the different types of myeloma that might be present in the patient’s sample,” Dr. Stewart says. “That helps us understand whether we need to raise the intensity of the therapy, whether we’re able to eradicate certain elements of the tumor over time, whether drug resistance is emerging and — critically — helps us to identify precision therapies when certain mutations are present.”

Multiple myeloma cells have the ability to evolve rapidly, changing their genetic profiles over time. Certain genetic subtypes of multiple myeloma respond poorly to treatment. One type of chromosome abnormality linked to multiple myeloma is a mismatching of chromosome parts known as chromosomal translocation.

“In the next few months, the test panel will also be able to tell us the chromosomal translocations that are present in the tumor,” Dr. Stewart says. “We can already do that in the research laboratory, and we’ll soon translate that to the clinical lab.”

Moving the ball forward

The individualized-medicine approach to multiple myeloma has yielded a major development in precision therapy. New treatments have recently been found to be effective for multiple myeloma involving a certain chromosomal translocation.

Mayo Clinic is working towards other breakthroughs, building on its history as a global leader in multiple myeloma. That history dates back to the 1960s and the work of Robert A. Kyle, M.D., who continues to be an active researcher at Mayo Clinic.

“We’re building on Dr. Kyle’s long tradition,” Dr. Stewart says. “We have a very deep and strong myeloma group, both clinically and in the research domain, along with our strong presence in individualized medicine. We’ve also been blessed by our collaboration with the Multiple Myeloma Research Foundation. Mayo is working with the Foundation on one of the largest genomic studies of any cancer that’s ever been done.”

As a major clinical and research center, with a global patient population, Mayo Clinic has compiled a significant database on multiple myeloma. “Over the past 50 years, we have collected information on patients as well as 45,000 to 50,000 patient samples,” Dr. Stewart says.

“We’ve made great progress over the past five years in developing an individualized medicine approach to treating multiple myeloma,” he adds. “Our commitment to patient care, along with a plethora of clinical trials and investigative laboratory work, will allow us to continue to move the ball forward.”

Join the conversation

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

Learn more about the latest clinical applications of precision medicine at this year’s Individualizing Medicine Conference. It will be held Sept. 12-13, 2018.

Wed, Jun 6 8:00am · Researchers seeking to identify families at risk for cancer

This article originally appeared on the Center for Individualized Medicine blog on March 13, 2018

 Physician-researchers within Mayo Clinic’s Hereditary Cancer Clinic are seeking to usher in a new era of identification and prevention for those with inherited risk of cancer. With support from the Center for Individualized Medicine, they are offering DNA blood testing to all patients with colon, breast, ovarian, prostate, brain and other cancers. The goal is to identify patients with genetic mutations that are putting them and their families at increased risk for cancer and respond with a proactive, individualized approach.

Niloy “Jewel” Samadder, M.D.: “Offering hope of prevention”

Niloy “Jewel” Samadder, M.D.

As a young physician-researcher, Niloy Jewel (Jewel) Samadder, M.D., treated many patients with early onset colon and breast cancers. That inspired him to conduct research into the molecular origins of their cancer.

“If we could find a genetic cause to their cancer, then maybe we could intervene earlier to try to prevent future cancer altogether,” says Dr. Samadder. “Perhaps even more important, we could give patients hope of preventing cancer in the people they love. We could alert close family members that they may be at risk and should be screened regularly to catch cancer at its earliest stage.”

Dr. Samadder notes that 50 percent of all cancers that are precipitated by an underlying genetic mutation are missed using current guidelines – a missed opportunity for families. It is estimated that between 10 and 20 percent of cancers may have an inherited predisposition depending on the cancer type that is inherited in families. Since there are genetic conditions, your family is key: Dr. Samadder says if you have hereditary cancer, there’s a 50 percent chance your closest relatives — mother, father, sisters, brothers, sons or daughters — will have the same genetic mutation that could develop into cancer. Understanding genetic risk of cancer can focus attention on more intensive screening and monitoring. Some patients may even opt for pre-emptive surgeries to prevent cancer from occurring.

A gastroenterologist with a focus in genetics, Dr. Samadder’s cancer research centers on three main areas:

  • Understanding how family history contributes to colorectal cancer risk.
  • Understanding when to start chemotherapy pre-emptively to prevent cancer altogether, a concept called “chemoprevention.”
  • Understanding how to integrate genetics as the regular, daily standard of care for patients with inherited cancer.

“Genetic testing not only helps us identify patients with inherited cancer, it also helps us find the root cause. This may help inform treatment decision-making, which can be targeted toward the specific genes that contribute to tumor growth. We can also consider intervening to prevent new cancer in both the patient and relatives who have the same genetic mutations,” says Dr. Samadder.

Dr. Samadder’s extensive training and experience have come full circle. Early in his career he trained at Mayo Clinic and at the University of Michigan. He then spent many years in cancer-genetics research at the University of Utah’s Huntsman Cancer Institute. Dr. Samadder returned to Mayo Clinic in mid-2017, where he sees patients on Mayo’s Arizona campuses.

“What brought me back to Mayo was its patient-first focus. Mayo stands apart in the way it brings together the three shields of education, research and practice to address the unmet needs of patients and deliver hope and healing,” says Dr. Samadder.


Douglas Riegert-Johnson, M.D.: “A new paradigm in cancer treatment”

Faster and cheaper genetic testing has led to a new paradigm in cancer prevention and treatment, according to Douglas Riegert-Johnson, M.D., who leads the Hereditary Cancer Clinic on Mayo Clinic’s Florida campus. In the past, genetic testing for hereditary cancer traits was offered selectively only to a few cancer patients.

Douglas Riegert-Johnson, M.D.

“We’re moving to a model in which almost all cancer patients will have genetic testing for hereditary cancer traits. This information can be important for both cancer treatment and prevention. For example, if we find that a genetic mutation is the cause of a woman’s ovarian cancer, she will receive a different, more aggressive form of chemotherapy than if she didn’t,” says Dr. Riegert-Johnson.

On the prevention side, patients can take steps to prevent a second cancer. For example, a colon cancer patient with the Lynch syndrome cancer trait will have colonoscopies more frequently to prevent a second colon cancer. People with Lynch syndrome, a genetic condition, have a high risk of colon, endometrial, ovary, stomach and other cancers. The children of the patient with Lynch syndrome colon cancer can also be tested for the Lynch syndrome trait. If the test results are positive, they can begin having colonoscopies earlier and more frequently. Research shows patients who know they have hereditary cancer traits and take preventive measures do live longer, says Dr. Riegert-Johnson.

A gastroenterologist and medical geneticist, Dr. Riegert-Johnson has been practicing at Mayo Clinic since 1999 — the last 10 years in Florida. He began his training at Mayo Clinic in general internal medicine, and then studied classical genetics at Johns Hopkins Hospital. Dr. Riegert-Johnson now specializes in GI-tract hereditary cancers.

“I deal with all types of hereditary cancer. I counsel patients on what types of things they can do to prevent cancer including lifestyle changes and what tests would be useful to them or not useful to them,” says Dr. Riegert-Johnson.

During the course of his career, he’s seen cancer take a stressful toll on many families. He is drawn to the work in hereditary cancer by the potential he sees to help cancer patients live longer, higher quality of lives.

“For me, the most personally gratifying thing is to give people good news. A lot of patients have relatives with genetic mutations that predispose them to cancer. And, these patients assume they, too, have inherited cancer-causing genes. If you test them and find they are negative, you can tell that a big weight has been lifted off their shoulders,” says Dr. Riegert-Johnson.


Join the conversation

For more information on the Mayo Clinic Center for Individualized Medicine, and how it is transforming care through the discovery, translation and application of precision medicine research, visit our blogFacebookLinkedIn or Twitter at @MayoClinicCIM.


Save the date for this year’s Individualizing Medicine Conference. It will be held Sept. 12-13, 2018 in Rochester, Minnesota.



Thu, May 24 8:00am · Mayo's RIGHT 10K - moving pharmacogenomics into everyday clinical practice

This article originally appeared on the Center for Individualized Medicine blog on March 20, 2018.

By Sharon Rosen

After nearly half a century of research, Mayo Clinic is a leader in moving pharmacogenomics into clinical practice. This year pharmacogenomics test results for 10,000 Mayo Clinic patients, all participants in the RIGHT 10K study, are being added to the electronic health record.

“I’ve spent my career exploring pharmacogenomics – how a person’s genetics affect his or her response to medications. Mayo has been a pioneer in this area of precision medicine. The RIGHT 10K study translates decades of research on drug-gene interactions into pre-emptive patient care. My hope is that within the next five years, genomic test results for the majority of our patients will be part of their electronic health record, allowing physicians to proactively use this information to individualize care,” says Richard Weinshilboum, M.D., co-director of the Mayo Clinic Center for Individualized Medicine Pharmacogenomics Program.

Richard Weinshilboum, M.D.

The RIGHT 10K study and the information in the electronic health record have the potential to inform the practice by guiding health care providers in their prescribing. The goal is to understand how genetic testing may help improve health care by identifying medications and/or making dose adjustments that are compatible with a patient’s genetic makeup.

“Medications today can be very effective, but they can also cause harmful, sometimes life-threatening side effects. That’s where pharmacogenomics can help physicians select the right drug and dose for every patient.” – Richard Weinshilboum, M.D.

“Medications today can be very effective, but they can also cause harmful, sometimes life-threatening side effects. That’s where pharmacogenomics can help physicians select the right drug and dose for every patient,” says Dr. Weinshilboum.

On record – genetics data to help select the right drug and dose

Paul Takahashi, M.D., a primary care physician and co-director, Mayo Clinic Biobank, is one of the early pioneer physicians to use this new pharmacogenomics information in his medical practice.

Sixteen of his patients are the first to have their pharmacogenomics data added to their electronic health record.

Paul Takahashi, M.D.

“We consider many factors when prescribing medications. The pharmacogenomic data will give us another tool to help tailor treatments. I think it will improve the safety and effectiveness of treatments for patients on a variety of medications, including those commonly used to treat pain. It’s a very practical first step for using genomics to individualize patient care.” – Paul Takahashi, M.D.

“We consider many factors when prescribing medications. The pharmacogenomic data will give us another tool to help tailor treatments. I think it will improve the safety and effectiveness of treatments for patients on a variety of medications, including those commonly used to treat pain. It’s a very practical first step for using genomics to individualize patient care,” says Dr. Takahashi.

Advancing discovery and patient care – RIGHT 10K offers a world of opportunities

This RIGHT 10K study builds on Mayo’s leadership in moving pharmacogenomics from research to practice:

  • In 2013, the Mayo Center for Individualized Medicine established the addition of drug-gene rules into the electronic health record, alerting physicians when they were prescribing a medication that could be affected by a patient’s unique genetic makeup.
  • In 2016, the team published results from the first phase of the RIGHT study, showing that 99 percent of the first 1,000 Mayo Clinic biobank participants had at least one genetic variant that may influence their response to medications.

“The RIGHT 10K pharmacogenomic test results could help individualize care for virtually every disease – from cancer to heart disease, diabetes and obesity.” – Dr. Weinshilboum

“The RIGHT 10K pharmacogenomic test results could help individualize care for virtually every disease – from cancer to heart disease, diabetes and obesity,” says Dr. Weinshilboum.

The study also offers unlimited opportunities for Mayo physicians and researchers to:

  • Look forward: explore whether having patients’ genetic test results in the electronic health record reduces harmful side effects and maximizes the benefit of hundreds of medications.
  • Look back: study whether physicians could have selected a better therapy for patients if their genomic information had been available.
  • Make new discoveries: uncover previously unknown genetic variances linked to drug response.
  • Measure value: evaluate whether pre-emptive genomic testing is a cost-effective approach to improving individualized patient care.

Implementing pharmacogenomics – a team sport

Moving pharmacogenomic data for 10,000 patients into the electronic health record didn’t happen magically – it’s been accomplished by a multidisciplinary team of experts.

As Dr. Weinshilboum explains, “Pharmacogenomics is truly a team sport at Mayo. We’ve reached this milestone with a collaborative team of clinicians, geneticists, pharmacists and information technology specialists, each bringing their expertise to help move pharmacogenomics directly into the clinical practice.”

Mayo Clinic also collaborated with Baylor College of Medicine to sequence DNA from the RIGHT 10K study participants.

To move these data into the practice, the Mayo team developed:

  • Education support to help the health care team of physicians, pharmacists, nurses and others understand and interpret pharmacogenomics test results.
  • Patient education materials to help patients understand how their pharmacogenomics test results may affect the medications they take now and in the future.
  • Information technology systems to maintain the quality of genomics data and seamlessly incorporate it into the electronic health record.

The team’s efforts have the potential to offer far reaching benefits.

“Not only Mayo patients, but patients everywhere will benefit from the lessons we learn from this research. In addition, we’re sharing our unique collaborative research model with physicians around the world who are looking to bring clinical genomics into their medical practices,” says Dr. Weinshilboum.

Mayo Clinic’s pharmacogenomics research efforts have been supported through many grants including the National Institutes of Health (NIH) Pharmacogenomics Research Network  and NIH Electronic Medical Records and Genomics (eMERGE) Network.

Join the conversation

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

Save the date for this year’s Individualizing Medicine Conference. It will be held in Rochester, Minnesota, on Sept. 12-13, 2018.


Mon, Apr 23 8:00am · Registration opens for Individualizing Medicine 2018 Conference

This post originally appeared on the Individualized Medicine blog on April 3, 2018.

By Sharon Rosen

Gene editing, artificial intelligence, pharmacogenomics and a new era of genomic testing to identify and hopefully treat inherited cancer are just a few of the emerging areas of precision medicine that have the potential to transform patient care.

These are among the hot topics in precision medicine experts from Mayo Clinic and around the world will discuss at this year’s Individualizing Medicine Conference: Advancing Care through Genomics, hosted by Mayo Clinic Center for Individualized Medicine on Sept. 12-13 in Rochester, Minnesota. Registration opens April 2 for the seventh annual conference.

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

“The Individualizing Medicine Conference offers providers, researchers, and individuals in laboratory medicine a unique opportunity to hear about the latest advances in genomics and see how these efforts are being translated to improve patient care now,” says Timothy Curry, M.D., Ph.D., director, Mayo Clinic Center for Individualized Medicine Education Program. “The conference offers attendees the chance to interact with leaders in the field and learn firsthand how to apply genomics into daily medical practice.”

Precision medicine – where we are and where we are headed

This year marks an exciting milestone in genomics – the 15th anniversary of the Human Genome Project. At this year’s conference, speakers across the spectrum of precision medicine will discuss current precision medicine research and practice underway and highlight new developments on the horizon.

Here’s a look at two speakers who will share their insights on precision medicine:

Eric Green, M.D., Ph.D.

Eric Green, M.D., Ph.D., will look at the rapid advances in genomic medicine and how genomic testing has helped uncover not only the genetic causes of many rare diseases, but also those linked to many common diseases like cancer, heart disease, diabetes and Alzheimer’s disease.

Dr. Green is the director of the National Human Genome Research Institute (NHGRI) at the National Institutes of Health (NIH), where he provides overall leadership of the institute’s research portfolio and efforts to accelerate genomics into medical care.

As genomic sequencing technology has advanced, genetic testing can now examine a larger number of genes even faster and more cost effectively. That means more potential to apply genomic testing to more areas of patient care, such as cancer, cardiology, neurology and gastroenterology.

Heidi Rehm, Ph.D.

Heidi Rehm, Ph.D., has championed the identification of genetic variants linked to a patient’s disease or risk for disease. She’ll discuss her ongoing efforts to discover and share disease-related variants and review hot topics in genomic sequencing.

Dr. Rehm is chief laboratory director, Partners Laboratory for Molecular Medicine and medical director, Broad Institute Clinical Research Sequencing Platform, and associate professor, Pathology at Brigham & Women’s Hospital and Harvard Medical School.

Take a deeper dive into precision medicine topics

As a conference attendee, you’ll also have the chance to hear experts provide in-depth updates and practical applications in breakout sessions covering a wide range of topics, including:

  • Super babies and more: genome editing and its impact on health care.
  • Fast forward with artificial intelligence: also known as augmented human intelligence, artificial intelligence is helping analyze data, find patterns and reach conclusions that would be difficult for the human mind alone, allowing providers to diagnose disease and identify treatments faster.
  • Personalized nutrition: the impact of diet and the microbiome on disease risk.
  • Individualized medicine for men and women: gender matters when diagnosing and treating disease.
  • Rare and undiagnosed diseases: the latest developments in using genomics and other omics to find answers.
  • Personalized medicine: the current and future state of personalized medicine – hype or hope?
  • Pharmacogenomics: strategies to move pharmacogenomics into clinical practice.
  • New cancer technologies: how mate pair, RNA sequencing and liquid biopssy are changing practice.
  • Microbes and cancer: does bacteria in our bodies cause cancer or provide insights into our cancer risk?

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