Posts (119)

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.

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

Thu, Oct 5 3:15pm · #CIMCon17: learn from experts moving genomic discoveries into patient care

Mayo Clinic is a leader in moving important advancements in precision medicine from the laboratory into patient care, offering hope and healing. The Individualizing Medicine Conference: Advancing Care Through Genomics gives medical providers and scientists the opportunity to learn firsthand the newest ways genomic medicine is improving care for patients.

The Mayo Clinic Center for Individualized Medicine will host the conference beginning Oct. 9 in Rochester, Minnesota.

“Mayo has had a long tradition of sharing its knowledge dating back to the Mayo brothers, who invited other medical professionals to observe their latest surgical techniques. The same is true today. The conference allows us to share groundbreaking discoveries with other researchers and providers, with the goal of advancing an individualized approach to patient care,” says Timothy Curry, M.D., Ph.D., director, Mayo Clinic Center for Individualized Medicine Education Program.

Using genetic testing to guide patient care, the story so far

Keith Stewart, M.B., Ch.B., director, Mayo Clinic Center for Individualized Medicine, will open this year’s conference by sharing how genomic testing, which has become faster and cheaper, is being used to improve diagnosis and treatment for patients with many conditions – from heart disease and cancer to inherited diseases. According to Dr. Stewart, all patients can benefit from genetic testing and an individualized approach to care.

Conference Highlights

Pharmacogenomics – matching the right drug and dose based on genetics

  • Manage pain more safely and effectively in light of the opioid crisis: Timothy Curry, M.D., Ph.D., will moderate an expert panel discussing how pharmacogenomics testing can help identify safer and more effective pain management medications for every individual – whether recovering from surgery or suffering from a chronic condition.
  • Individualize therapies for quitting smoking: Can our genes provide clues to help us quit addictive habits such as smoking? Rachel Tyndale, Ph.D., professor of Pharmacology and Psychiatry, CAMH and University of Toronto, is asking that question and will share her groundbreaking research on how a person’s genetic makeup impacts addiction and drug response and how this information can be used to identify more individualized treatments for patients.
  • How to incorporate pharmacogenomics into your medical practice: Mayo Clinic is a leader in bringing pharmacogenomics to patients. Pre-conference programs and breakout sessions will feature experts Richard Weinshilboum, M.D. and Liewei Wang, M.D., Ph.D., co-directors of the Mayo Clinic Center for Individualized Medicine Pharmacogenomics Program, discussing how pharmacogenomics is critical to selecting the most effective, safest therapy for patients. They’ll also highlight Mayo’s innovative RIGHT study, which is pioneering the addition of pharmacogenomics data into the electronic health record, helping doctors’ access genetic information to guide treatment decisions.

NIH All of Us Research Program, part of Precision Medicine Initiative (PMI)  

With pilot studies already underway, Stephanie Devaney, Ph.D., deputy director, All of Us Research Program, will provide an update on this unprecedented study that is enrolling one million or more people into a research cohort to advance an individualized approach to managing health and disease. Mayo Clinic’s Biobank will store participants’ blood and biospecimens used in the research.

Personal Genomics: home DNA tests; DNA sequencing of all newborns and healthy people

  • Robert Green, M.D., M.P.H., director, Genomes2People Research Program, and a medical geneticist at Brigham and Women’s Hospital and Harvard Medical School, will share his compelling research on how genetic testing can be used to promote overall wellness and prevent or manage disease. As co-director of the NIH-funded PGen Study, he has led one of the first studies exploring direct-to-consumer (at home) genetic testing services. He also leads the MedSeq and the BabySeq Projects that examines the use of genomic sequencing in patients who are healthy and those with hereditary disease.
  • David Ledbetter, Ph.D., executive vice president and chief scientific officer, Geisinger Health System, will provide an update on the MyCode Community Health Initiative, an innovative research effort that has already enrolled 150,000 Geisinger patients. 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.

Progress in diagnosing rare diseases

William Gahl, M.D., Ph.D., clinical director, National Human Genome Research Institute, will discuss how genomic sequencing is being used to help the millions of people worldwide, who suffer from a rare disease — many of whom have searched for years to find answers after traditional testing fails to reveal a diagnosis or treatment. Dr. Gahl, head of the NIH Rare and Undiagnosed Diseases Program, will discuss how national and international collaboration is boosting the application of genomics to solve these cases.

How your microbiome – the community of bacteria in your gut – affects your health

Rob Knight, Ph.D., director, Center for Microbiome Innovation, University of California, San Diego and David Relman, M.D., the Thomas C. and Joan M. Merigan Professor in Medicine, and Microbiology and Immunology, and co-director of the Center for International Security and Cooperation at Stanford University, will discuss the latest discoveries of how the trillions of bacteria in your gut, known as the gut microbiome, support your overall health, and when imbalanced, can lead to disease. Their research findings in this growing field could lead to better diagnostic tests and individualized diets or treatments to help restore a healthy microbiome, preventing or managing many symptoms for conditions like irritable bowel disease, colon cancer, autism and rheumatoid arthritis.

Genetic links to inflammatory bowel disease

Judy Cho, M.D., director, Charles Bronfman Institutes for Personalized Medicine at Mount Sinai Health System in New York, will present her pioneering research uncovering how genetics, immune response and microbes increase the incidence of disease and how that information can be used to develop new treatments. Dr. Cho’s research is helping to reveal new treatment options for the many patients with inflammatory bowel diseases who do not respond to standard treatments and continue to suffer from debilitating symptoms.

Register to attend Individualizing Medicine 2017

There is still time to register and join us to learn more about bringing precision medicine into practice at Individualizing Medicine 2017: Advancing Care Through Genomics.

The Mayo Clinic Center for Individualized Medicine is hosting the sixth annual genomics conference October 9–10, in Rochester, Minnesota.

Explore all conference offerings:

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

 

Tue, Oct 3 4:09pm · Liquid biopsies: detecting and treating cancer sooner

What if a blood test could discover cancer before a tumor first appears or before the first signs of cancer recurrence are seen by a radiology study? In fact, these types of blood tests, often called liquid biopsies, are already changing clinical care for patients with cancer.

Researchers and physicians in Mayo Clinic Center for Individualized Medicine, Department of Laboratory Medicine and Pathology, Division of Medical Oncology and Mayo Clinic Cancer Center are collaborating and developing blood tests that detect tumor related material in the blood and may someday be used in place of a biopsy or imaging test to detect and monitor cancer growth.

These blood tests may offer a better view of cancer activity, according to Minetta Liu, M.D., an oncologist and research chair, Mayo Clinic Division of Medical Oncology.

Minetta Liu, M.D.

“Cancers are not uniform in their molecular characteristics. Key genetic mutations may differ between tumors in the same patient, or even between different samples of the same tumor mass. By analyzing cells or DNA that a cancer tumor has shed into the blood stream, we may be able to detect the first signs of cancer or cancer recurrence sooner and offer treatment earlier when it is most effective,” says Dr. Liu.

Improving cancer care now

Many of these blood tests are already making a difference for patients with advanced cancer where cancer has spread to many parts of the body.

“Our goal is to provide novel blood tests that will provide a faster, less expensive and potentially more accurate picture of cancer activity, allowing us to be proactive and offer individualized cancer screening and targeted treatment for our patients,” says Dr. Liu.

She outlines two types of blood tests that are providing important information to guide treatment decisions for these patients.

Cell-free DNA tests

Researchers have discovered that DNA from cancer tumors is shed into the bloodstream. Using specialized laboratory equipment, cell-free DNA tests are able to separate this tumor-related DNA from the normal DNA within a patient’s blood sample. Genomic analysis is then performed to look for anywhere from one to potentially thousands of cancer specific mutations and identify potential targets for treatment.

A new cell-free DNA test developed at Mayo is guiding treatment for patients with many types of cancer, without the need for a tumor biopsy.

Mayo Clinic researchers are also developing multiple gene panel based tests to detect a variety of genetic mutations associated with lung, colorectal and breast cancers.

Circulating tumor cell tests

With circulating tumor cell tests, specialized equipment is used to capture rare cancer cells circulating in the blood. These cells are then processed for analysis.

“At this time, there is only one FDA-approved circulating tumor cell test available. We use this test for circulating tumor cell enumeration to monitor cancer growth and predict outcomes for patients with advanced breast, colorectal and prostate cancer. Our research is focused on isolating circulating tumor cells with different platforms in order to optimize their isolation and molecular characterization. For example, we can use the same tests on the DNA from circulating tumor cells that we have developed for cell-free DNA. By improving how we isolate and analyze these cancer cells, we can understand the molecular processes that cause cancer to develop and grow,” says Dr. Liu.

Advantages – patient-friendly, lower cost cancer screening for more patients

Mayo Clinic has a robust research program to bring forward accurate, reliable blood tests into clinical practice along with guidelines on how to use these tests to enhance diagnosis and treatment for many types of cancer.

According to Dr. Liu, these blood tests offer many advantages over current biopsy and testing methods:

  • Less invasive test with fewer risks
  • Lower cost and faster turnaround time for results
  • More easily identify patients who need more extensive treatment and screening

In addition, Dr. Liu and her team hope that these new tests will offer new cancer treatment options to more patients.

“Patients who live in smaller or rural communities may not have access to a facility that offers sophisticated cancer screening or has the capability for image-guided core needle tumor biopsies. However, most patients have access to a facility that can draw and ship blood samples to a central laboratory for analysis. Liquid biopsies could therefore expand cancer screening and improve cancer treatment outcomes for patients, regardless of their access to a specialized cancer center,” says Dr. Liu.

Learn more about liquid biopsies

Register for the 2017 Individualizing Medicine Conference

Learn more about precision medicine and how it can be applied to improve diagnosis and treatment for many conditions, including cancer, at Individualizing Medicine 2017: Advancing Care Through Genomics.

The Mayo Clinic Center for Individualized Medicine, is hosting the sixth annual genomics conference, October 9–10, in Rochester, Minnesota.

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

Wed, Sep 27 10:30pm · A genetic approach to cancer treatment

Article by Kristin Clift

The medical community has historically defined and treated cancer based on where it is found in the body, such as the breast, lung or colon. So what has changed?  The FDA has recently started to approve treatments based on the genetic makeup of cancer rather than where the cancer is located.

This allows us to approach cancer treatment in more general ways. That means if a drug is approved for a specific genetic marker, it could potentially be used for breast, colon or prostate cancer – if the genetic mutations in each type of cancer are similar.

Why this is an option

Sequencing a patient’s DNA continues to become faster and cheaper. More patients now have a window into their genetic codes to better understand how changes in their genes can lead to diseases like cancer.

Alexander Parker Ph.D., associate director, Mayo Clinic Center of Individualized Medicine, explains how genomics has changed the way physicians and scientists approach cancer treatment.

Alexander Parker, Ph.D.

“The ability to quickly and cost-effectively explore the molecular depths of cancer with genomic testing has served to underscore something that we’ve known for a long time. That is, cancer isn’t a disease of a specific organ; it’s a disease of your DNA.” says Dr. Parker.

Sequencing helps us to understand if a genetic mutation in, say, breast cancer is similar to a genetic mutation linked to colon cancer. If that is the case, a patient with this type of breast cancer may benefit from a treatment used for colon cancer, rather than one used to treat breast cancer.

Shifting to an individualized approach

Historically, physicians treated all cancers that arise in the same organ the same way. For example, if you have kidney cancer, you are treated with certain drugs, and if you have lung cancer, you are treated with different drugs – even if these two different cancers are similar on a molecular and genetic level. With this approach, the organ where the cancer originates defines the treatment.

As Dr. Parker explains, “This view of cancer would be similar to a mechanic who treated car problems based on the make and model of a car rather than looking under the hood to see what was going on.”

Genomic technology is allowing us to shift our focus from the organ where the cancer originates to the genetic characteristics of the cancer tumor, leading to the development of new diagnostic tests and targeted treatments.

“We are getting closer to the day when patients can say to their physicians, ‘Don’t tell me how you treat breast cancer. Tell me how you’ll treat the cancer that is in my breast,” says Dr. Parker.

Overcoming challenges to access individualized therapies

Genomic technology offers many promising discoveries, but we have also encountered challenges that include:

  • Difficulty accessing medications for “off label” use: Even after a patient’s tumor has been sequenced and genetic changes have been identified, physicians may have difficulty obtaining a targeted therapy if that medication has not been approved to treat the patient’s particular type of cancer.
  • Targeted therapies are often only used after standard therapy fails: Physicians use approved standard therapies first when treating a cancer patient and only turn to therapies that target a specific genetic mutation in a tumor if standard therapy fails.

However, with the push towards more individualized medicine and the FDA’s recent shift, we’re making an improvement on how we view and treat cancers. More and more treatments are getting approved for any cancer with a particular genetic profile rather than an organ-defined cancer.

At Mayo Clinic Center for Individualized Medicine, we are developing and offering more tests to genetically identify cancers in order to provide the best treatment options for our patients.

As Dr. Parker explains, “These tests offer our patients, especially those who have not benefitted from standard therapies, a more targeted therapy to treat their specific type of cancer. As technology advances, we hope to offer tests that examine a broader group of genes that may impact disease and develop more targeted treatments for patients.”

Dr. Parker is also co-leader of the Genetic Epidemiology and Risk Assessment Program in the Mayo Clinic Cancer Center.

Register for the 2017 Individualizing Medicine Conference

Learn more about precision medicine and how it can be applied to improve diagnosis and treatment for many conditions, including cancer, at Individualizing Medicine 2017: Advancing Care Through Genomics.

The Mayo Clinic Center for Individualized Medicine, is hosting the sixth annual genomics conference, October 9–10, in Rochester, Minnesota.

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

 

 

 

Thu, Sep 21 9:50am · Making sense of probiotics and prebiotics – what we know, have yet to learn

They are everywhere – foods and supplements containing bacteria that claim to improve your gut health and overall wellness. Can these bacteria improve your digestion, boost your immune system and even combat disease?

“Yes, they may in fact provide an overall health benefit, but we’re at the tip of the iceberg when it comes to understanding how the community of bacteria in the gut, known as the gut microbiome, affects health and disease,” explains Purna Kashyap, M.B.B.S.

Purna Kashyap, M.B.B.S.

Dr. Kashyap, a gastroenterologist and associate director, Mayo Clinic Center for Individualized Medicine Microbiome Program, explains what we know and have yet to learn about the microbiome in his article Making Sense of Pre-,Pro- and Synbiotics, in the quarterly newsletter for the American Gastroenterological Association.

There’s been a lot of talk about probiotics and the benefit they may offer. Dr. Kashyap highlights what we know so far about probiotics as well as two other types of interventions – prebiotics and synbiotics – used to maintain a healthy community of gut bacteria.

Probiotics

Probiotics are live microorganisms that are given to promote gut health and overall wellness. They can be found in foods like yogurt and sauerkraut or taken as a supplement. When surveyed, many patients say they feel better after taking probiotics.

However, as Dr. Kashyap explains, it is difficult to identify how these probiotics work or their true health benefit based on research to date. There is no standardized approach to studying probiotics so the results from different studies cannot be compared, making it difficult to draw definitive conclusions about how probiotics are changing the gut microbiome.

Despite these challenges, Dr. Kashyap remains optimistic about the potential that probiotics may hold as more standardized research methods are applied.

“Probiotics appear to offer a benefit for maintaining health and potentially treating disease. The significant advancement in our understanding of the role of microbiota in disease states has inspired the development of next generation of probiotics, including genetically engineered strains that are more targeted and disease specific,” he says.

Prebiotics

Prebiotics contain nutrients that support or feed bacteria, such as those in probiotics. Traditionally, prebiotics are found in foods such as onions, garlic, bananas and complex carbohydrates like whole grains.

According to Dr. Kashyap, customized prebiotics offer a promising method to influence the activity of good bacteria in the gut.

“If we can identify communities of bacteria that are beneficial for health and may eliminate or reduce disease, we can create a prebiotic treatment that contains nutrients to stimulate and support these ‘good bacteria’,” says Dr. Kashyap.

Synbiotics

Synbiotics are supplements that contain both prebiotics and probiotics, combining nutrients appropriate to stimulate a specific “good bacteria”.

According to Dr. Kashyap, there is little evidence to date to support this approach to maintaining a healthy gut microbiome. But that could change.

“While in theory this appears to be a reasonable strategy, overall the clinical data are sparse and don’t yet show a definitive advantage over probiotics alone. This will likely change as we improve our current generation of pro- and prebiotics and gain a better understanding of the role of the microbiome,” says Dr. Kashyap.

Why our microbiome is important

According to Dr. Kashyap, our microbiome plays a critical role in maintaining our health and holds great promise in preventing and treating disease.

“We know the gut microbiome supports digestion, maintains immune health, influences how drugs are metabolized, controls glucose (blood sugar) levels and may even affect your mood and behavior. Unlike your genes which you are born with and can’t change, the gut microbiome can be manipulated. So once we understand how bacterial imbalances are linked to disease, we can develop individualized therapies using ‘good bacteria’ to prevent or treat many conditions like irritable bowel disease, certain cancers and diabetes. Everyone’s microbiome is different, so individualized therapies are the key,” says Dr. Kashyap.

Learn more about microbiome research 

Register to attend Individualizing Medicine 2017 and learn more about pharmacogenomics 

Join us to learn more about bringing precision medicine into practice, including the latest microbiome research, at Individualizing Medicine 2017: Advancing Care Through Genomics.

The Mayo Clinic Center for Individualized Medicine is hosting the sixth annual genomics conference October 9–10, in Rochester, Minnesota.

Explore all conference offerings:

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

 

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