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Mayo Clinic Medical Science Blog

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4 days ago · Searching for a genetic contributor to degenerative disk disease

Article by Sharon Rosen

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, 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.

This article originally appeared on the Center for Individualized Medicine blog on Oct. 27, 2017

Tue, Aug 29 8:35am · Will health care improve if everyone has their DNA mapped?

Article by Sharon Rosen

Rapid advances in genomic testing have led to better screening and individualized treatments for many diseases, including rare genetic disorders and cancer. Now that genetic testing is becoming faster and less expensive, should it become part of routine medical care for healthy people? Should everyone have their DNA sequenced to learn the medically informative code that their genome holds? This is one of the questions Keith Stewart, M.B., Ch.B., Carlson and Nelson endowed director, Mayo Clinic Center for Individualized Medicine, will address in his keynote presentation at this year’s Individualizing Medicine Conference. The Center for Individualized Medicine will host the conference on Oct. 9-10, in Rochester, Minnesota.

Dr. Keith Stewart

“The promise – and challenge – of genomic medicine is to apply it so that it will help individualize health care for each patient without creating anxiety or leading to unnecessary ancillary testing. Once we address the barriers to bringing this powerful tool into the hands of every physician, we postulate that we will be able to offer patients better care, based on more individualized information about their health and disease,” says Dr. Stewart.

In his conference presentation, Dr. Stewart will highlight progress to date at Mayo Clinic in advancing individualized medicine and will use his personal journey of having his genome sequenced to highlight the possible benefits (and risks) that preemptive genetic testing could offer patients, including:

  • Learning if you are more likely to develop certain cancers, so you can be proactive and reduce your cancer risk with screening and lifestyle changes.
  • Offering cancer screening with a blood test, rather than PET scans, MRIs or needle biopsies.
  • Helping with family planning. Testing can reveal whether you are at increased risk of passing down an inherited condition to your children.
  • Using pharmacogenomics testing to identify how your genetic makeup affects how you process medications, helping your physician select the right medications that will provide the most benefit and minimize the chance for harmful side effects.

Dr. Stewart will also highlight how Mayo Clinic is working to overcome barriers to implementing genetic testing into everyday practice. Mayo researchers and physicians are working to address these questions:

  • How do you take complex data from genetic testing and add it to an electronic health record so physicians can easily access it, use it to guide health care decisions and explain it to their patients?
  • How can you help physicians learn to use and accept this new technology as a valuable tool to provide better care for their patients?
  • How do you continually reinterpret this information and modify it over time to create a helpful resource as genomic knowledge grows?
  • How do you show that genomic tests will reduce health care costs and improve medical care so that insurers will routinely cover these tests for patients?

Dr. Stewart is also the Vasek and Anna Maria Polak Professor of Cancer Research and a consultant in the Division of Hematology/Oncology at Mayo Clinic’s campus in Arizona.



This article originally appeared on the Center for Individualized Medicine blog on July 18, 2017.




Tue, Aug 22 9:14am · Three genetic tests to improve prenatal screening

Article by Sharon Rosen

New genomic technology is reshaping perinatal screening, which is testing before and during pregnancy to assess the health of a baby. Now pregnant women can have their baby initially screened for genetic disorders, such as Down syndrome, through the use of a newer blood test that evaluates DNA from the placenta present in the mother’s blood stream. Another test for couples planning a family uses a single blood sample to assess whether future children might be at risk for developing a genetic disease.

“It’s an exciting time in perinatal testing,” explains Myra Wick, M.D., Ph.D. “DNA sequencing and molecular technology has improved and become more cost effective. These tests are important for family planning prior to pregnancy as well as planning for the care of a child who is found to have a genetic disorder during pregnancy. ”

Three state-of-the-art perinatal genetic tests are highlighted below. Researchers from the Center for Individualized Medicine have helped implement several of these tests, which use a personalized medicine approach in perinatal screening.

1. Cell free DNA testing

Dr. Myra Wick

Mayo Medical Laboratories recently launched a blood test to screen for the most common chromosome disorders diagnosed in pregnancy, such as Down syndrome. It’s known as a cell-free DNA test. It screens the mother’s blood that contains DNA from the baby, looking for genetic disorders in the fetus. The new test generally has a higher detection rate and fewer false positives than traditional screening tests.

“Prior to this new test, mothers had the option of traditional first trimester screening, which is a blood test and ultrasound, or second trimester screening, which is a blood test. In general, the cell free DNA blood test can be used in place of the traditional first and second trimester screening,” explains Dr. Wick. It is important to remember that the cell free DNA testing is a screening test, and abnormal results should be followed up with additional testing.

The out-of-pocket cost for the new blood test varies depending on insurance coverage, and the specific laboratory performing the testing; a general estimate is approximately $350. Results are usually ready within one week.


2. Expanded carrier screening

In the past, couples had genetic screening based on family history of a genetic disorder, or if they were part of an ethnic group at risk for certain inherited diseases. Previous tests only screened for a small defined group of genetic disorders. Those tests didn’t help couples who were uncertain of their ethnic heritage, plus the tests were very limited in scope.

Now couples may choose a more comprehensive test that looks for 100 or more genetic disorders. It’s called expanded carrier screening. This test is done with a blood sample from each prospective parent.

“Expanded carrier screening looks at multiple genes associated with genetic diseases. Most of the disorders included on an expanded carrier screen are inherited in an autosomal recessive manner. This means that the parents are carriers of the disorder, with one normal copy of the gene and one abnormal copy of the gene. Carriers of an autosomal recessive disorder do not typically have signs or symptoms of the disease. A child is affected with an autosomal recessive disorder when he or she inherits one abnormal copy of the gene from mom, and one abnormal copy of the gene from dad. Approximately 5% of couples who undergo expanded carrier screening are found to be carriers for the same disorder, and at risk for having an affected says Dr. Wick.

Depending upon insurance coverage, the test costs approximately $350. Test results are returned within one to two weeks.


3. Whole exome sequencing (WES)

In rare cases, an ultrasound during pregnancy reveals that the baby has several medical problems. Traditional genetic testing may not identify a diagnosis. Now whole exome sequencing (WES), which looks at most of the genes linked to growth and health, can be used to evaluate the fetus’s condition. It can provide a diagnosis in 30 percent of cases.

For this testing, an amniocentesis is performed first to obtain DNA for genetic analysis.

“We are beginning to use WES even before the baby is born. Results can be used to plan for care of an infant who may be born with several complex medical concerns. In addition, parents can use this information for future family planning,” says Dr. Wick.

Whole exome sequencing is expensive, with typical costs of approximately $8,000, depending upon the specific test and insurance coverage. Results from this more complex screening usually take several weeks, depending upon the specific test being used.


Seek genetic counseling before selecting a perinatal or prenatal genetic test

Dr. Wick’s suggests that you ask your health care provider about genetic testing and recommends that all prospective and expectant parents consult with a medical geneticist or genetic counselor prior to undergoing any genetic screening. These professionals can help couples understand all genetic test options available, what test results may reveal, and options for medical care for a child affected with a genetic condition.

If your provider is at a large medical center, genetic counseling should be available. At smaller facilities, your primary provider may order initial blood tests, but you may be referred to a larger facility if test results indicate you need genetic counseling.

This article was adapted from the  June 23, 2017 Center for Individualized Medicine blog.





Thu, Jul 20 9:30am · Obesity: an individualized approach doubles the success rate of weight loss therapy

Article by Sharon Rosen

Many people think if they just stick to a diet and exercise, they’ll lose weight; unfortunately, many are not successful. They wonder why they can’t lose weight even after trying many different diets, work out programs and medications. According to Andres Acosta, M.D., Ph.D., the answers, at least partially, may be in your genes. His research in obesity shows that there is not just one type of obesity, and there are many different genetic and biological factors that play a role in losing or gaining weight. That’s why Dr. Acosta and his team have developed an individualized approach to tackle obesity – one patient at a time.

In the new Obesity Clinic within Mayo Clinic Center for Individualized Medicine, a multidisciplinary team selects therapy for each patient based on his or her genetic and biological characteristics, environment and behavior. The new approach is already dramatically increasing treatment success and pioneering the application of precision medicine to treat chronic diseases.

Dr. Andres Acosta

“Prior to using an individualized approach, only 30 percent of obese patients had successful weight loss after treatment. We studied 500 patients to identify the factors leading to their obesity and then selected the best therapy for each patient based on their unique characteristics. With this new approach, patients with obesity will lose two times more weight than with standard therapy. This is critical because obesity is one of the leading causes of death and increases the risk for developing diabetes, heart disease and many types of cancer. Our goal is to help people get control of their weight and live a healthier lifestyle,” says Dr. Acosta.

“We often think of individualized medicine being used to treat cancer or rare genetic disorders. Now we are pioneering a new treatment for obesity, a chronic disease. This is where the future of precision medicine is headed – developing individualized treatments for many common, chronic conditions.”

So how does the individualized approach work for patients with obesity?

Here is an example: some obese patients do not experience a normal sensation of fullness after eating and it takes them longer to feel full. Dr. Acosta and his team were able to identify genetic characteristics linked to this condition and then prescribe a currently available medication to help these patients feel full sooner, stop overeating and lose weight.

“This individualized approach to treating obesity allows physicians to maximize the effectiveness and safety of currently available, FDA-approved medications and endoscopic and surgical procedures. It may also lead to the development of new treatments to meet the unique needs of patients.” – Dr. Andres Acosta

“This individualized approach to treating obesity allows physicians to maximize the effectiveness and safety of currently available, FDA-approved medications and endoscopic and surgical procedures. It may also lead to the development of new treatments to meet the unique needs of patients,” says Dr. Acosta.

The Obesity Clinic is open to anyone who is overweight or obese and wants to lose weight. Patients visiting the clinic will see a multidisciplinary health care team, which includes gastroenterologists, dietitians, surgeons, endocrinologists and psychologists, all specializing in the treatment of obesity. As part of their evaluation, patients will have:

  • Genetic testing to identify unique characteristics that may impact weight gain or make weight loss more difficult
  • Pharmacogenomics testing to identify any genetic factors that impact how a person processes medications
  • Evaluation of eating habits, including appetite and diet
  • Assessment of lifestyle and behavioral factors that may play a role in weight gain

Patients also meet one on one with staff in Mayo Clinic Healthy Living Program to develop a personalized plan for nutrition, fitness and wellness. With follow up support from wellness coaches, the program helps patients successfully maintain control over their weight and live a healthier lifestyle.

This article originally appeared on the Center for Individualized Medicine blog on July 13, 2017.

Tue, Jun 27 8:00am · Personalized care for aggressive breast cancers: 4 steps forward from the BEAUTY study

Article by Sharon Rosen

Chemotherapy substantially reduces the chance that certain types of breast cancer will return or spread to other parts of the body and improves survival. Chemotherapy before surgery is a standard approach to treat women with aggressive breast cancer. However, chemotherapy does not shrink tumors in all women.

Mayo Clinic researchers are turning to genomic sequencing to learn which patients are most likely to be helped by chemotherapy. And, they hope to develop alternative therapies for those who don’t, using genomic data and by growing tumors in mice that mimic the patient’s response to treatment.

They recently reported findings from the Breast Cancer Genome-Guided Therapy (BEAUTY) study in the Journal of the National Cancer Institute.

Below are four key findings from the study that may have an impact on clinical practice and bring more personalized therapies to patients with aggressive breast cancer.

#1: A unique approach to identifying individualized therapies

Dr. Judy Boughey

The BEAUTY trial combined multiple scientific approaches to evaluate treatment for aggressive breast cancer. Tumor biopsies from 140 patients with aggressive breast cancer were collected before patients were treated with chemotherapy. These tumor samples were analyzed using:

  • DNA and RNA sequencing to find unique genetic mutations or characteristics of patients’ tumors
  • Analysis to identify possible links between a patients’ response to chemotherapy and their individual genetic characteristics
  • Creation of patient derived xenografts (PDX), in which a sample of a patient’s tumor is injected into a mouse, resulting in a biological model  duplicating the patient’s tumor

“By combining these approaches, we gained insights that will help us develop individualized therapies based on the genetic characteristics of a patient’s tumor. Our goal is to use this information to develop alternative therapies for those patients who do not respond to chemotherapy,” says Judy Boughey, M.D., breast surgeon and co-chair of the BEAUTY study.

This study also helped researchers learn more about aggressive breast cancer.

As Matthew Goetz, M.D., medical oncologist and co-chair of the BEAUTY Study explains, “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 insight into the molecular underpinnings of chemotherapy resistance.”

#2: Searching for new drug targets

Dr. Matthew Goetz

Prior research has demonstrated that genetic alterations in some cancers can be targeted with drugs that cause tumor shrinkage and prolong life. A major focus of the BEAUTY study was to determine if patients with resistance to chemotherapy had evidence for genetic alterations that could be targeted.

While common genetic changes that could be targeted were not “enriched” in chemotherapy resistant tumors, BEAUTY investigators identified rare alterations including genes involved in DNA repair. BEAUTY investigators tested a cancer drug (olaparib) currently only approved for patients with inherited mutations in the DNA repair genes BRCA1 and BRCA2. Importantly, the presence of genetic changes that did not involve BRCA1 and BRCA2 in the chemotherapy resistant tumor predicted for response to olaparib,when this drug was tested in the PDX.

“The  BEAUTY study has created a new paradigm in research wherein in one study, we identify genetic changes associated with chemotherapy resistance, identify a drug or drug combination designed to address that resistance mechanism, followed by use of that same tumor (PDX) from which the genetic changes were identified to study new drug or drug combinations to reverse resistance,” explains Dr. Goetz.

“Our preliminary findings tell us that we may need to treat each patient individually based on their unique genetic makeup,” says Dr. Boughey.

#3: Key genetic discoveries may impact patients with triple negative breast cancer

Fifteen to twenty percent of women diagnosed with breast cancer have triple negative breast cancer, an aggressive breast cancer defined by the absence of key proteins and biomarkers that are currently targeted in breast cancer. Using genomic analysis, investigators identified key findings that could improve care for patients with triple negative breast cancer:

  • Patients with a rare type of triple negative breast cancer that expresses the androgen receptor are more likely to have tumors that resist chemotherapy.
  • Based on this finding, an important next step is to develop new targeted therapy combinations for the androgen receptor expressing triple negative breast cancer.

#4: Tumor models offer a promising tool to develop new therapies

The BEAUTY study investigators were able to successfully grow patients’ tumors in mice – PDX – for 27 percent of all patients enrolled in the trial and for more than half of those patients with triple negative breast cancer. This model provides a better replica of a patient’s tumor than a petri dish.

As Dr. Goetz explains, “These PDX have already proved to be a powerful tool for us to test new drug therapies, especially those  PDX that were generated from women whose tumor was resistant to standard therapy.”

Investigators will continue their quest for new alternative, individualized treatments for patients with aggressive breast cancer with the launch of the BEAUTY2 study that will get underway later this year and evaluate novel drug therapies in patients with chemotherapy resistant disease prior to surgery.


This article was originally published on the Center for Individualized Medicine blog on May 19, 2017


Thu, Jun 15 8:00am · A personalized approach to brain tumor surgery

By Susan Buckles

New technology invented and used only at Mayo Clinic lets physicians plan an individualized approach to brain surgery. Brain magnetic resonance elastography (MRE) allows surgeons to see inside a patient’s skull and determine the firmness of a brain tumor before surgery. Slip interface imaging is another new invention that shows level of adhesion of the tumor to normal brain tissue. When used together, physicians can plan the precise amount of time and the safest method for removing a patient’s tumor, reducing the risk of complications.

Mayo Clinic’s Center for Individualized Medicine provided funding to accelerate the research and development in order to make slip interface imaging available to patients. May is Brain Tumor Awareness Month, a perfect time to reflect on how the discovery, translation and application of this new technology are improving options for brain surgery.

Mayo Clinic-invented technologies show brain tumor firmness, adhesion before surgery

Helen Powell holds a water bottle adorned with her beaded jewelry.

It’s not often that a fall saves someone’s life. Helen Powell, 74, says that was the case for her. A computerized tomography scan that followed her fall revealed a cancerous brain tumor that led her to Mayo Clinic and surgery using first-in-the-world technology. Brain magnetic resonance elastography (MRE) imaging, showed the precise firmness of her tumor. New slip interface imaging further revealed how attached the tumor was to normal brain tissue — even before starting surgery. The imaging techniques, invented and available only at Mayo Clinic, show whether the tumor is soft and can be removed easily, or if it is firm, making surgery more challenging and time consuming.

“Brain magnetic resonance elastography and slip interface imaging help avoid surprises in surgery that could lead to complications for the patient,” says Jamie Van Gompel, M.D., a neurosurgeon at Mayo Clinic. “Once in surgery, we may find a tumor is stiffer than expected and will take more time to remove than we had planned, or alternatively, we may find the tumor to be more adherent to brain than anticipated, raising the risk of a complication from that surgery.”

Dr. Jamie Van Gompel

Slip interface imaging provides information on the interface between the tumor boundary and surrounding tissue. This interface can be capsule-like in which the tumor slides or slips within the surrounding normal tissue, or it can form a rigid connection in which the tumor is fixed to the surrounding tissue. Surgeons use the images to plan the proper time and the safest method for extraction.

“This technology allows us to get a feel for the tumor without opening someone’s head and this will really impact patient safety,” says Dr. Van Gompel.

New Mayo Clinic research, published in the Journal of Magnetic Resonance Imaging, confirms the effectiveness of slip interface imaging. The study looked at the level of tumor adhesion in 25 patients. The brain magnetic resonance elastography and slip interface imaging showed 16 patients had tumors that could be easily removed; nine patients had tumors with adhesion to the brain; and six were mixed. Physicians found all the pre-surgical images to be an accurate assessment  of the tumors and therefore an invaluable surgical planning tool.

Dr. John Huston III

“Slip interface imaging gives Mayo Clinic physicians new information that allows an individualized approach to tumor surgery for both cancerous and noncancerous lesions. If a tumor is soft, it can sometimes be sucked out. If it is firm, it may need ultrasonic extraction. Before we had this imaging capability, it was not uncommon to find unexpected risks that required follow up surgery,” says John Huston III, M.D., a radiologist who helped develop the imaging technology.

In Helen Powell’s case, slip interface imaging helped her surgeon determine that despite having a challenging, firm tumor, he could remove most of it in one surgery and attack the rest with radiation. And, he could extract it through her nose rather than performing a craniotomy.  That cut risk of rare but also significant potential complications like stroke or blindness.

For Powell, it was an answer to her prayers. For 3½ years before her diagnosis at Mayo Clinic, no doctor or medical center could figure out what was wrong. She suffered constant shoulder and joint pain, was nauseated most of the time and was slowly losing her eyesight. She was so uncomfortable that she slept in a recliner most nights. She thought she might die. After surgery, she noticed a dramatic change.

“When I woke up, I could see again. My shoulders didn’t hurt anymore and I didn’t have any more joint pain. I could walk and think again. It was a miracle,” she says.

Powell has recovered enough to return to her hobby of making beaded jewelry. And, she says she feels well enough to travel across the country to visit her adult children.

Dr. Keith Stewart

The Center for Individualized Medicine Imaging Biomarker Discovery Program at Mayo Clinic provided the funding and support to bring the MRE and slip interface to patients at Mayo Clinic. The Center for Individualized Medicine collaborates closely in research and practice across many disciplines at Mayo Clinic to apply a comprehensive team science approach to patient care. According to Keith Stewart, M.B., Ch.B., Carlson and Nelson Endowed Director, Mayo Clinic Center for Individualized Medicine, this new imaging technology advances an individualized approach to surgery that patients can’t get anywhere else.

“The Center for Individualized Medicine supports Mayo Clinic’s efforts to seamlessly move breakthrough therapies and critical advances in patient care from the research lab to the doctor’s practice so more patients can benefit from the promise of individualized medicine,” says Dr. Stewart, who is also the Anna Maria and Vasek Polak Professor of Cancer Research, Division of Hematology-Oncology at Mayo Clinic.

The research paper was funded partly through a grant from the National Institutes of Health.

Authors on the study from Mayo Clinic are:

Additional collaborator:

  • Anthony Romano, Ph.D., U.S. Naval Research Laboratory

*Dr. Ehman is the Blanche R. and Richard J. Erlanger Professorship in Medical Research



This article originally ran on the Center for Individualized Medicine blog on May 3, 2017.


Thu, May 4 8:00am · Precision care for heart disease - a practical approach

Article by Sharon Rosen

Heart disease can sometimes be a silent killer. Many of us know seemingly healthy people who’ve suddenly or unexpectedly had a heart attack. It can be shocking when people who are at a a healthy weight and exercise regularly die from heart disease that they never knew they had. Many forms of heart disease can be prevented or treated with healthy lifestyle changes. Physicians are turning to genetic testing to help identify whether a patient is at risk for developing the disease or to detect and treat it early.

Mayo Clinic researchers have developed practical approaches that physicians can use to bring precision medicine care to their patients with heart disease, a leading killer in America. John Giudicessi, M.D., Ph.D., Iftikhar Kullo, M.D., and Michael Ackerman, M.D., Ph.D. outline these clinical guidelines in their paper Precision Cardiovascular Medicine: State of Genetic Testing in the April 2017 issue of Mayo Clinic Proceedings.

Dr. John Giudicessi

The authors highlight the importance of creating the guidelines to help guide patient care.

“As genomic testing has become more affordable, faster and more accessible, both physicians and patients have many questions. Which genetic tests should be used? What do the genetic test results mean for patients and their family members? The clinical guidelines we have assembled will help physicians understand how to use current genomic knowledge to provide the best care for their patients. This can help physicians diagnose heart disease earlier, before the patient, and in some cases other family members, experience a life threatening event like a heart attack, ” explain the researchers.

Genomics – improving care for cardiovascular disease

Genomics has already played a key role in providing individualized care for many patients with cardiovascular diseases.

The Mayo researchers highlight these areas where precision medicine has led to improved prevention, screening, earlier diagnosis and treatment for patients, and in many cases, their family members:

  • Familial cardiovascular disease: Genetic testing has helped identify familial cardiovascular diseases that result in heart rhythm disturbances, thickening/dilation of the heart’s lower chambers, and high cholesterol. These tests help physicians diagnose and treat inherited heart diseases in patients and also screen family members as young as eight years old for the condition.
  • Increased risk for common heart diseases: Researchers have discovered many genetic variants that lead to increased risk for developing common cardiovascular diseases such as coronary heart disease and atrial fibrillation. By identifying whether a patient has these genetic variants, physicians can then recommend additional screening and lifestyle changes to prevent the need for heart surgery down the road or to diagnosis and treat the condition sooner.
  • Drug-gene interactions: Pharmacogenomics tests have been developed to identify genetic variants that can impact how patients process medications to treat cardiovascular diseases. These tests help physicians select the right drug and dosage of medications to maximize the benefit and reduce the chance for harmful, sometimes life threatening side effects.

Team approach – ensures the maximum benefit

Dr. Iftikhar Kullo

The Mayo researchers emphasize the importance of using a multidisciplinary team to select the appropriate genetic tests and interpret test results for each patient. The team should include coordinated care from cardiologists, genetic counselors and medical geneticists.

Why is this team approach so important? Because as the authors explain, when it comes to genetic testing, one size does not fit all.

“A ‘one size fits all’ mentality to genetic testing is not advised. Genetic testing should be used only if the medical team suspects that a patient has an underlying genetic cardiovascular disease after performing a thorough clinical evaluation, which should include a detailed family history and comprehensive cardiovascular testing,” explain the authors.

Dr. Michael Ackerman

Once testing is complete, the team plays a critical role in interpreting test results for each patient. Many genetic tests generate large amounts of data that often contain ambiguous or uncertain findings. Medical geneticists and genetic counselors can help identify which test results can be used to guide patient care and when a patient’s family members need screening for heart disease. Team members work with the patients and their families through every step of the genetic testing process.

Mayo Clinic Proceedings Symposium on Precision Medicine 

This paper is the third 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.

John Giudicessi, M.D., Ph.D, is a resident in the Department of General Internal Medicine at Mayo Clinic’s campus in Rochester, Minnesota.

Iftikhar Kullo, M.D, . professor of Medicine and consultant in the Department of Cardiovascular Diseases at Mayo Clinic’s campus in Rochester, Minnesota.

Michael Ackerman, M.D., Ph.D. professor of Pharmacology, Medicine and Pediatrics and consultant in the Department of Cardiovascular Diseases and Department of Pediatrics and Adolescent Medicine at Mayo Clinic’s campus in Rochester, Minnesota.


This post originally appeared on the Center for Individualized Medicine blog on April 14, 2017.


Thu, Apr 27 8:00am · Developing new tests to find and defeat cancer at its earliest stages

Mammography and other screening tools have made great strides in finding 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 when symptoms occur. Mayo Clinic and other research institutions are wondering: could a blood test complement current practice to improve rates of early detection and cure?


Research suggests that novel blood tests may be able to find cancer early, by identifying small pieces of genetic material shed by tumors.  Mayo Clinic is collaborating with GRAIL, a life science company, and Sutter Health of California, on the STRIVE clinical research study to facilitate the development of GRAIL’s blood tests for early-stage cancer detection.


Dr. Minetta Liu

Minetta Liu, M.D.,  Fergus Couch, Ph.D. and Celine Vachon, Ph.D. are leading the STRIVE study at Mayo Clinic. The study will enroll 40,000 women at the time of screening mammography over the next 15 months at Mayo Clinic’s campuses in Rochester, Minnesota; Jacksonville, Florida; and Phoenix, Arizona; as well as at the Mayo Clinic Health System Franciscan Healthcare locations in La Crosse and Onalaska, Wisconsin.


Sutter Health will enroll another 80,000 women at locations in California during that same time frame. Participants will provide blood samples, complete an electronic questionnaire and allow for follow-up regarding their clinical outcomes. Learn more about this study in GRAIL’s news release.

Dr. Fergus Couch


Mayo Clinic Center for Individualized Medicine (CIM) has been an early supporter of the STRIVE study. Mayo Clinic has placed a high priority on being a leader in the development of blood tests for the most effective detection and treatment of breast and other cancers. Use of such tests should improve the sensitivity of early cancer detection and will allow monitoring of existing cancers for remission, recurrence and therapeutic choice without the need for an invasive biopsy.

Dr. Celine Vachon


With these goals in mind, Mayo Clinic Cancer Center investigators have collaborated with the biotechnology company GRAIL to develop and initiate this study. CIM facilitated the rapid launch of this study within the Mayo Clinic by providing early funding and internal project management support.





This post originally appeared on the Center for Individualized Medicine blog on April 20, 2017

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