Posts (126)

Thu, Nov 30 8:47am · 3 ways Mayo Clinic is advancing individualized approaches to breast cancer treatment

By Sharon Rosen and Susan Buckles

Approximately one out of eight American women will develop breast cancer during their lifetime. In the U.S., it is estimated that more than 315,000 women will be diagnosed this year with breast cancer. While statistics show fewer women are dying from the disease, breast cancer still remains the second leading cause of cancer deaths in women.

The need for earlier diagnosis and more precise treatment to address unmet patient needs continues to drive the research goals at the Center for Individualized Medicine. Physicians and scientists at Mayo Clinic are applying the latest genomic research both to improve early detection of breast cancer when it is most treatable and also to develop new, individualized therapies based on the unique genetic characteristics of each patient’s cancer.

Mayo Clinic research seeks to improve breast cancer care and treatment in three key ways.

  1. Developing blood tests that may improve the early detection and treatment of breast cancer

Minetta Liu, M.D.

Mammography and other screening tools have made great strides in finding breast cancer early, when it is most likely to be successfully treated. However, some early stage cancers are missed by conventional screening and are only detected after symptoms appear. In some cases, cancer is not detected until it has spread to other areas of the body.

Are there ways to improve early breast cancer detection?

Research suggests that blood tests may be able to find breast cancer early, by identifying small pieces of genetic material shed by tumors. Investigators at Mayo Clinic are working to validate use of a blood test to complement current screening methods for the earliest detection of breast cancer and other cancers in healthy individuals before they have any signs or symptoms of disease. This is known as liquid biopsy. Similar approaches are being applied to treatment and disease monitoring through a collaborative effort between the Division of Medical Oncology, Department of Laboratory Medicine and Pathology and Center for Individualized Medicine.

“Our clinical and research efforts in the liquid biopsy space are all focused on building a complete understanding of the complex biological and genetic processes underlying cancer. This will enable us to deliver personalized care to patients at the earliest possible stage,” says Minetta Liu, M.D., a medical oncologist in the Division of Medical Oncology.

  1. Developing new treatment options for advanced breast cancer

Matthew Goetz, M.D.

Therapeutic treatments can shrink or slow the growth of cancer cells for women with advanced, stage IV breast cancer that has spread to other parts of the body. Many times, tumors become resistant to therapy, so it is not uncommon to change treatments often. By gaining a deeper understanding of cancer’s progression on a molecular level, researchers hope to match therapeutic options to a patient’s individual genetic makeup with the hope of selecting the treatment that is most likely to succeed.

A clinical trial at Mayo Clinic will use sophisticated genetic tests and research in mice to advance care for women with estrogen receptor-positive (ER-positive) breast cancer that has progressed to stage IV cancer.

The standard treatment for ER-positive breast cancer for the past 40 years has been therapies that target estrogen.  Adding a new class of drugs called CDK 4/6 inhibitors to the treatment plan has been shown to slow the growth of cancer and extend life for patients with stage IV ER-positive breast cancer. However, it doesn’t stop tumor progression altogether.

Researchers will use advanced DNA and RNA sequencing to analyze genetic characteristics of the tumor and look for pathways of drug resistance. Those tests will be done before treatment begins and after two months. Investigators  will attempt to grow the patient’s cancer in mice from a piece of the patient’s cancer tissue – this is known as mouse avatars or PDX models. Cancer-fighting drugs will be tested against cancers that grew in mice, to confirm the genetic pathways of resistance.

Ciara O’Sullivan, M.B., Ch.B.

“This is the first study to prospectively evaluate advanced DNA sequencing technologies combined with  tumor models grown in mice –  mouse avatar, PDX models in women taking standard of care CDK 4/6 inhibitors for ER-positive breast cancer. The goal  is to identify new genetic biomarkers of resistance and develop drugs that target resistance to the treatment of ER-positive metastatic breast cancer,” says Matthew Goetz, M.D., medical oncologist.

Dr. Goetz and Ciara O’Sullivan, M.B., Ch.B., also a Mayo oncologist, are co-principal investigators for the study.

  1. Developing an individualized approach to treating aggressive breast cancer

Judy Boughey, M.D.

Chemotherapy before surgery is prescribed for patients with aggressive forms of breast cancer. While this treatment helps shrink the tumor, chemotherapy does not shrink tumors in all patients.

In the Breast Cancer Genome-Guided Therapy (BEAUTY) study, Mayo researchers used genomic sequencing to identify unique genetic characteristics of tumors from patients whose disease was or was not eradicated by chemotherapy. They then used that information to develop alternative therapies for those who did not respond to chemotherapy.

“For patients with cancer remaining at the time of surgery, there is a great need to bring forward additional treatments that address chemotherapy resistance. The BEAUTY study was designed to develop tools and provide insights into the genetic and molecular underpinnings of chemotherapy resistance,” says Judy Boughey, M.D., breast surgeon and co-chair of the BEAUTY Study.

In the study, investigators successfully grew models of the patient’s cancer in mice – PDX  models – to test effectiveness of alternative therapies on the tumors in mice.

“These PDX have already proved to be a powerful tool for us to test new drug therapies, especially those PDX models that were generated from women whose tumor was resistant to standard therapy,” says Matthew Goetz, M.D., medical oncologist and co-chair of the BEAUTY study.

The next phase of the study will build on this research and will provide new drug therapies for patients with aggressive breast cancer who are resistant to standard chemotherapy given prior to surgery.

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.

 

 

 

Tue, Nov 28 10:17am · From pharmacogenomics to pharmaco-omics – individualized care for every patient

When prescribing a medication for you, your physician considers many factors, including your age, sex, weight and current health conditions. Now, add to that list your unique genetic characteristics. Your genes affect the way you respond to medications. Pharmacogenomics is a term used to describe the use of genomic information to help select the right medication for patients to maximize the treatment benefit and avoid harmful, sometimes life-threatening side effects.

It turns out that virtually everyone has a genetic variant that will affect the way they respond to one or more medications. Pharmacogenomics is already making a difference by helping individualize treatments for cancer, pain management, transplants and depression.

Richard Weinshilboum, M.D.

“This area of clinical genomics applies to every medical specialty and will eventually touch the care of every patient. While we are just at the beginning of understanding how genomics affect drug response, research has shown the benefit of using pharmacogenomics in clinical care. Pharmacogenomics information is being generated in clinical laboratories, added to electronic health records and used to ‘tailor’ or individualize therapy for patients,” says Mayo Clinic’s Richard Weinshilboum, M.D.

Dr. Weinshilboum and Liewei Wang, M.D., Ph.D., are leading pharmacogenomics researchers and co-directors of the Mayo Clinic Center for Individualized Medicine Pharmacogenomics Program. In the November issue of Mayo Clinic Proceedings, Dr. Weinshilboum and Dr. Wang trace the origins and development of pharmacogenomics and highlight the progress and challenges of implementing it into clinical practice. In their paper Pharmacogenomics:  Precision Medicine and Drug Response, they describe a vision for the future where pharmacogenomics will become “pharmaco-omics” in which other biological factors along with genomics are used to guide every medical drug-related therapy decision.

Using pharmacogenomics in patient care – progress and challenges

The challenge of using pharmacogenomics in clinical care is identifying the most cost-effective and efficient way to:

  • Add patients’ genomic information (known drug-gene interactions) and clinical guidelines into the electronic health record.
  • Bring this information together in an easy to understand format so clinicians can easily access it to select the best medication for each patient.

The authors highlighted several pilot studies underway that are testing these processes, including those at Mayo.

Currently, information for 19 drug-gene pairs is already added to Mayo’s electronic health record. This information can trigger an alert along with clinical guidelines to any clinician prescribing a medication in which a patient’s genomics could affect their response to the drug.

Liewei Wang, M.D., Ph.D.

“While having drug-gene information incorporated into the electronic health record is helpful, clinicians may still need to order genetic testing for a patient before they can use this information, potentially delaying treatment decisions. Through the RIGHT 10K study, we are investigating the benefit of pre-emptively adding a patient’s genomic information, along with clinical guidelines on how to interpret and use this information. This allows clinicians to have information they need when prescribing medications,” explains Dr. Wang.

The future – new discoveries will enhance individualized care

Going forward, the authors forecast that many new discoveries will help guide drug selection, including:

  • Rapid increase in the number of genetic variants associated with medication response – from hundreds to thousands of variants per gene.
  • Growing amount of available genomic data as researchers explore the genome for drug-gene interactions by using new DNA sequencing technologies.
  • New findings about other biological measures that affect drug response that can be used along with genomics to guide treatment selection.

The challenge will be to develop computational tools and computer systems to analyze, interpret and then translate this wealth of information into guidelines to help physicians select the most effective medication for each individual patient.

According to the authors, despite these challenges, this area of precision medicine has the potential to help every patient.

Mayo Clinic Proceedings Symposium on Precision Medicine 

This paper is the seventh in the 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.

 

 

Tue, Nov 21 8:11am · Conner’s story: sharing family history and genetic testing lead to better health for young boy and his father

Conner Jones and his parents Jeff and Suzanne

National Family Health History Day is on Thanksgiving, Thursday, November 23. While you enjoy time with your family during the holiday, it can also be a good time to learn about your family’s medical history. It could improve your health or detect conditions that run in the family.

That was the case for Jeff and Suzanne Jones almost four years ago. They were searching for treatment for their two-and- a-half year old son Conner, who was having diarrhea and severe stomach cramps. After hearing about Conner’s problem, Jeff’s grandmother shared that she had similar problems as a child. She urged her grandson and his family to turn to Mayo Clinic for answers.

At Mayo, Conner was diagnosed with ulcerative colitis, an inflammatory bowel disease that causes inflammation and ulcers (sores) in the digestive tract. He and his parents had genomic testing to look for an underlying genetic cause of his disease or other inherited gastrointestinal conditions that could be affecting his health. This approach is part of the clinical practice of the Individualized Medicine Clinic services at Mayo Clinic’s Rochester Campus.

Michael Stephens, M.D.

“Through genetic testing, we discovered incidentally that Conner and his father both carried the genetic variant for Lynch syndrome, an inherited condition that increases a person’s risk for developing colon cancer and other cancers. Patients with ulcerative colitis have a lifetime risk of colon cancer of about 25 percent, while patients with Lynch syndrome have a lifetime risk of colon cancer of about 65 percent,” says Michael Stephens, M.D., a pediatric gastroenterologist in Mayo Clinic’s Inflammatory Bowel Disease Center for Children.

“These results helped guide our therapeutic management decision to remove Conner’s colon for both curing his intestinal disease and for preventing the development of colon cancer in the future. His recovery has been remarkable. Just as important, they also provided important health information for his father, who was unaware of his high risk of colon cancer.”

A potentially lifesaving discovery

As a result of the incidental learning that he also carried the genetic variant for Lynch Syndrome, Conner’s father Jeff had a colonoscopy, a test to screen for colon cancer. Just like Conner, Jeff has a higher risk for developing colon cancer at an earlier age, compared to those without Lynch syndrome.

The colonoscopy revealed that Jeff had colon polyps, which are small clumps of cells that form on the lining of the colon. Most colon polyps are harmless.  But over time, some colon polyps can develop into colon cancer, which can be fatal if not found in its early stages.

Jeff’s polyps were removed and showed no signs of cancer. Thanks to his grandmother who shared her health history and genetic testing at Mayo, Jeff will now receive regular screening for colon cancer, an important step for maintaining his health.

Watch a video on Connor’s story that was shared at Individualizing Medicine Conference 2017: Advancing Care Through Genomics, a conference hosted by the Mayo Clinic Center for Individualized Medicine.

Your family’s health history – questions to ask

To learn more about what questions you can ask your family to help you manage your own health, see our blog Know the Facts: Learn Your Family Medical History to Improve Your Health.

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.

 

 

Tue, Nov 14 3:16pm · 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.

 

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