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1 day ago · Considering a DNA test? Helpful tips before you take the plunge

Article by Shannon Wieloch

The availability of genetic testing has exploded. You hear about it on television, the radio and the internet. Family members are verifying age-old stories of their ancestry. Co-workers are talking about the genes that predispose them to weigh 12% less than average.

With everyone doing it, a consumer may think, “Well, why not? It’s so simple.” Before grabbing a DNA kit, here are a few things to consider.

Intended for clinical/diagnostic use or not intended for clinical/diagnostic use?” In the world of genetic testing, that is the distinction that needs to be made.

Genetic tests that are intended for clinical/diagnostic use are ordered by a physician. The results are then used to direct a patient’s medical care.

Genetic tests that are not intended for clinical/diagnostic use can be purchased directly by anyone, depending on the state in which they live. These tests generally fall into two groups:

  1. Non-health testing may include information such as ancestry or are intended for entertainment purposes.
  2. Health testing results contain information that may impact a person’s health and well-being. These tests can assess disease risk, potential risk to have a child with certain genetic conditions (carrier screening) or gene-drug interactions (pharmacogenomics).

As the name of the latter implies, the results from genetic tests that are not intended for clinical/diagnostic use are not intended to direct a person’s medical care. If a risk is identified, a genetic test that is intended for clinical/diagnostic use may be warranted.

For the sake of this blog post, we will focus on genetic
tests that are not intended for clinical/diagnostic use.

Many companies offer these tests as DNA analysis can be conducted on a mail-in saliva or cheek swab sample. No laboratory visit is required.

Some companies don’t require a health care provider to order the test. Examples include 23andMe, Ancestry and National Genographic. Other companies require a physician’s order and contract with clinicians to review and obtain these orders. Examples of such companies include Mayo Clinic GeneGuide and Color.

Consumers are often notified through email when their results are ready and can then view them by logging into the company’s portal. Depending on the company, a genetic professional, such as a genetic counselor or medical geneticist, may be available to answer questions about genetic test results.

Of note, due to the sensitive nature of some results, consumers may wish to “opt out” of receiving results for certain diseases. An example of this is Alzheimer’s disease, for which prevention and treatment options do not currently exist.

Though not intended for clinical use, these tests may still identify the risk for a disease in a healthy person and thus may suggest the need to follow up with a genetic test that is intended for clinical/diagnostic use. This is especially true if a test includes information about how you may respond to different medications. Never change or discontinue your dosage in response to such test results. Consult with your provider to determine whether any changes to your medication would be appropriate.

So what are the benefits and limitations of genetic tests that are not intended for clinical/diagnostic use?

Benefits

  • Provide meaningful health information that you may otherwise not qualify to receive from your provider. The reason for this is because medical practice guidelines direct what clinical genetic tests a provider orders for a patient. If you don’t meet the guidelines, your provider may not order the test.
  • A better understanding of your genetics in a time when it’s increasingly being integrated into health care.

Limitations

  • Though no test has the ability to find all disease risk, genetic tests that are not intended for clinical/diagnostic use tend to be less comprehensive than those intended for clinical/diagnostic use. These tests look for certain genetic changes (variants) in a specific set of genes. Because of this, a negative test result reduces your chance of having a genetic change. It does not make it zero. Thus, your risk to develop a given condition decreases, but it still exists.
  • Many conditions have multiple genetic and environmental contributions. Examples include cancer, diabetes and heart disease. Knowing (a part) of your genetic contribution does not give you an exact risk to develop a condition.

8 important considerations about genetic tests that are not intended for clinical/diagnostic use

  1. Think about what you will do with the information the genetic test results provide.
  2. Recognize what the product does, and does not, test for.
  3. Understand that neither the accuracy nor reliability of the test is 100%.
  4. Be aware of how the company provides your test results and how they protect your privacy.
  5. Find out if the company shares your data with third parties.
  6. Look for a company that is clear about the benefits and limitations of their product.
  7. Consider the company’s credibility. Does its laboratory have certifications from Clinical Laboratory Improvement Amendments (CLIA), College of American Pathologists (CAP) and/or American Association of Blood Banks (AABB)?
  8. Schedule an appointment with a health care provider if you have specific concerns regarding current or ongoing medical issues you are experiencing.

The latest advances in cancer

Join us for Individualizing Medicine 2019 Conference: Precision Cancer Care through Immunotherapy and Genomics on Sept. 20-21, in Scottsdale, Arizona. 

The conference brings together experts from Mayo Clinic and across the country to present and discuss case-based approaches to using genomics and new immunotherapies that oncologists and their teams can bring back to their own patients.

Other key conference themes include:

  • CAR-T cell therapy
  • Clonality
  • Pharmacogenomics
  • Lineage Plasticity
  • National Cancer Institute match

Preview the conference program.

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Shannon Wieloch, MS, LCGC is a Mayo Clinic genetic counselor supporting the Center for Individualized Medicine.

Mon, Jun 10 1:30pm · Meet William Bobo, M.D. - taking the guesswork out of finding the right depression therapy

William Bobo, M.D.

Depression can touch every aspect of a person’s life – affecting the way they think, feel and behave. It is also the leading medical condition for those who complete suicide. Getting the right therapy is crucial. But for patients suffering from the disorder, finding an effective treatment often involves trial and error. That’s because it takes time for antidepressants to work. For physicians, it can be challenging to select a therapy because each patient has different symptoms and disease severity.   

That’s why psychiatrist William Bobo, M.D. of Mayo Clinic’s Florida campus is studying whether applying artificial intelligence can help guide health care providers to the right antidepressant on the first try. Dr. Bobo collaborated with Mayo Clinic and University of Illinois Urbana-Champaign (Illinois) researchers, with support from the Center for Individualized Medicine, to develop a model that combines genomics and clinical assessments to uncover patterns of how patients respond to antidepressants.

Team science yields a model to predict treatment outcomes

Dr. Bobo worked closely with the Illinois team led by Ravishankar Iyer, Ph.D., through the Mayo Clinic and Illinois Alliance for Technology-Based Healthcare, along with Richard Weinshilboum, M.D., and Liewei Wang, M.D., Ph.D., co-directors of the Center for Individualized Medicine Pharmacogenomics Program, to develop a computational model.

The model was initially tested using data from three studies where patients had been treated with selective serotonin reuptake inhibitors, a group of antidepressant medications.

Arjun Athreya, Ph.D.

“Using artificial intelligence innovations to harness the power of pharmacogenomics data and to identify disease subtypes, we were able to predict with 75-85 percent accuracy whether a common antidepressant drug would work for each patient in the study. That compares to 58-62 percent accuracy when predictions are based on clinical, demographic and social factors alone,” explains Arjun Athreya, Ph.D., who began working with the team as a Mayo Clinic and Illinois Alliance predoctoral fellow and is now a principal data scientist in the Department of Molecular Pharmacology and Experimental Therapeutics at Mayo.

“By bringing together clinicians, engineers and biologists to create the algorithm, we uncovered patterns of antidepressant response that each of these specialists alone might not be able to recognize,” he adds.  

The team also used the model to identify early milestones of treatment benefit. This second study included patients treated with another class of antidepressant therapy, serotonin–norepinephrine reuptake inhibitors.

“What are the early signs that a particular therapy is working? This is a question that physicians and patients often ask. Using our model, we were able to identify specific changes in core symptoms that needed to occur four weeks into treatment to accurately predict favorable response at eight weeks,” says Dr. Bobo.

Next steps – a decision tool to help physicians select the right therapy

Dr. Bobo and his colleagues hope to validate their findings in clinical trials and replicate their results across different types of antidepressants.

To help move the model into patient care, they have developed a web-based clinical decision support tool for physicians.

“Our goal is to develop artificial intelligence tools that generate insights to augment clinicians’ treatment management practices. In this way, the artificial intelligence technology is a clinician’s companion in delivering the best of care for our patients,” says Dr. Athreya.

The team also plans to build a continuous learning feature into the model, allowing for new discoveries to be incorporated into the algorithm.

A passion for psychiatry and clinical research

While he always wanted to pursue a career in medicine, Dr. Bobo never considered psychiatry until his third year of medical school at University of Missouri-Columbia. That’s when he was first asked to get to know five patients, each with a different psychiatric disorder, and describe what it was like to have each of their conditions.

“After meeting these patients, I was hooked,” he says.

He went on to complete his residency at the National Capital Consortium: Walter Reed Army Medical Center and the National Naval Medical Center and served as a psychiatrist in the Navy until 2006.

“I made the difficult decision to leave the military and pursue a
career as a clinical investigator. I wanted to directly participate in research
to find new, more precise treatments for patients.”

While doing his clinical fellowship and earning a Master’s in
Public Health at Vanderbilt University, he decided to focus his clinical and
research efforts on severe mood disorders.

Looking back, Dr. Bobo says the opportunity to collaborate on
research that will directly impact patients is what brought him to Mayo Clinic.

“Our model has exciting possibilities, because as a psychiatrist, nothing is more frustrating than to watch patients suffer through antidepressants that don’t work.  It can take months to find the right medication under current prediction models. This tool may help patients enjoy a better quality of life sooner,” he says.

The latest advances in cancer care

Join us for Individualizing
Medicine 2019 Conference: Precision Cancer Care through Immunotherapy and
Genomics
on Sept. 20-21, in Scottsdale, Arizona. 

Key
conference themes include:

  • CAR-T cell therapy
  • Clonality
  • Pharmacogenomics
  • Lineage Plasticity
  • National Cancer Institute

Stay informed

Want
to read more stories like this one?

Register to get weekly updates about new stories on Mayo Clinic Center for Individualized Medicine blog.

Join the conversation

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Mon, Jun 3 2:32pm · Identifying hereditary cancer risk: genetic testing can lead to better screening, earlier treatment

Do you have family members who have been diagnosed with gastrointestinal, breast or ovarian cancer? According to a recent Mayo Clinic study, nearly 5% to 10% of these cancers can be hereditary.

That’s why it is important to share your family medical history with your physician, who can determine if you and your family members may be candidates for genetic testing to identify cancer risk.

Niloy Jewel Samadder, M.D.

“Hereditary predisposition syndromes have been associated with a markedly increased lifetime risk of cancer, some approaching 100%,” says Niloy Jewel Samadder, M.D., a gastroenterologist in the Department of Clinical Genomics at Mayo Clinic’s Arizona campus.

This makes genetic testing critical to early detection of cancer risks and decisions about screening and treatment.

“Genetic testing has become a key tool to help identify syndromes and conditions that predispose a person to gastrointestinal and breast-ovarian cancer,” says Dr. Samadder, lead author of the study published in June in Mayo Clinic Proceedings. “Identifying these patients through family history and genetic testing allows physicians and patients to talk about cancer risks, and make decisions about appropriate screening, surveillance and interventions.”

Infrastructure support and early funding efforts for this
study were provided by Mayo
Clinic Center for Individualized Medicine
.

Learn more

Read the full
story
about the study.

In this video, Dr. Samadder explains how genetic testing helps guide the diagnosis and management of hereditary gastrointestinal cancers.

The latest advances in cancer

Hereditary cancer syndromes will be among the topics discussed
at Individualizing
Medicine 2019 Conference: Precision Cancer Care through Immunotherapy and
Genomics
on Sept. 20-21, in Scottsdale, Arizona. 

The conference brings together experts from Mayo Clinic and across the country to present and discuss case-based approaches to using genomics and new immunotherapies that oncologists and their teams can bring back to their own patients.

Other key conference themes include:

  • CAR-T cell therapy
  • Clonality
  • Pharmacogenomics
  • Lineage Plasticity
  • National Cancer Institute

Preview the conference program.

Stay informed

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stories like this one?

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Wed, May 29 7:36am · Individualizing Medicine 2019 Conference - practical precision cancer care approaches for your patients

Amidst the demands of providing care for patients with cancer, it can be challenging for oncologists and their care teams to keep up with the rapidly evolving field of genomics. Practical ways to apply the latest precision medicine discoveries is the focus of this year’s Individualizing Medicine Conference: Precision Cancer Care through Immunotherapy and Genomics, hosted by Mayo Clinic Center for Individualized Medicine on Sept. 20-21, at the Westin Kierland Resort & Spa, in Scottsdale, Arizona.

Alan Bryce, M.D.

“We’re excited to launch the first Individualizing Medicine Conference focused on precision oncology. The conference brings together experts who have made discoveries that are already being used in the care of patients with many types of cancer. Our goal is to present and discuss case-based approaches to using genomics and new immunotherapies that attendees can bring back to their own patients,” says Alan Bryce, M.D., an oncologist and director, Genomic Oncology Clinic, at Mayo Clinic’s campus in Arizona.

Experts from across the spectrum of cancer care

Attendees will have the opportunity to learn from and interact with experts from Mayo Clinic and around the country who will discuss hot topics in precision oncology, including CAR T-cell therapy for hematologic cancers, tumor profiling with cell-free DNA testing, pharmacogenomics of cancer drugs and managing side effects from immunotherapies.

Presenters will also discuss care strategies for a wide range of cancers:

  • Biliary cancer
  • Breast cancer
  • Familial cancer syndromes
  • Hematologic cancers
  • Lung cancer
  • Lymphoma
  • Melanoma
  • Multiple myeloma
  • Myeloid cancers
  • Prostate cancer

Preconference sessions will provide an in-depth look at the
science driving many advances in cancer care:

  • Drugs and Genes: Pharmacogenomics for the Modern
    Health Care Team
  • Basic Science of Immunotherapy
  • Advanced Molecular Oncology Testing: A Focus on
    Next Generation Sequencing Panels and Novel Genetic Technologies

Investigators are invited to submit an abstract for a poster session highlighting emerging research in precision medicine.

Join us at the conference

  • For a complete schedule and list of speakers and to register,
    visit the conference website.
  • Follow the latest news related to the conference on the
    Center for Individualized Medicine blogFacebookLinkedIn or Twitter at @MayoClinicCIM and use
    the hashtag #CIMCon19.

Thu, May 23 7:52am · After nearly three decades of testing, genome-sequencing brings answers for Arizona family

Article by Lynn Closway

Debra, Kyle and Todd Christy

At age 27, Kyle Christy has defied the odds. He was born with seemingly insurmountable medical challenges that caused his parents, Debra and Todd, to fear what their beloved first-born son’s life would be like. When their second son was born, just 19 months later, Debra and Todd immediately noticed the differences between a healthy baby and Kyle, who failed to thrive.

“We just kept going from doctor to doctor,” says Debra, as she describes the litany of medical problems that Kyle has endured: low muscle tone, allergies, motor issues, kyphosis, osteoporosis, severe swallowing issues and GI problems. Additionally, Kyle faced numerous other obstacles with socialization in all environments.

“I won’t deny that it’s been tough,” admits Kyle. “Many told me that I wouldn’t make it through high school, let alone college.  But I’ve always been determined.”

Relentless search

Debra and Todd could only guess at what brought on Kyle’s perplexing symptoms.  They didn’t rule out autism, or even Marfan syndrome, characteristic of Kyle’s tall and thin body type. 

Kyle grew weary of the endless doctors’ appointments, testing and finding no answers. “We’ve done pretty much every type of testing you can think of.  But it’s always one dead end after another,” he says.

Those dead
ends finally concluded when Kyle and his family discovered the Diagnostic
Odyssey Clinic in 2018 at the Department of Clinic Genomics at the Arizona
campus of Mayo Clinic, led by Radhika Dhamija, M.B.B.S. 
Kyle and his family underwent whole exome sequencing, a test that can
essentially read one’s genetic code.  The
results can reveal the way the human body grows and develops.

The results of Kyle’s testing were thoroughly reviewed by the three-site Mayo Clinic Diagnostic Odyssey Board, representing the Department of Clinical Genomics and the Center for Individualized Medicine.  Specialists from numerous disciplines, including clinicians, laboratory physicians, genetic counselors and post-doctoral fellows discuss potential next steps for patients.

The family finally had their answer: Kyle has a gene mutation.  Although there is no cure or treatment for Kyle at this point, the family is relieved.  Kyle, too, understands that there is no cure.  “It’s genetic, and it’s part of who I am,” he acknowledges.

Unflappable resolve

“Kyle has been one of the most involved patients I’ve had,” says Dr. Dhamija. “He asked very intelligent questions, and said that if this was going to be for research, or to help patients in the future, he wanted to be part of it.”

The long journey leading to their answer posed significant challenges for Kyle and his family, and Dr. Dhamija and the team at Mayo Clinic learned much about Kyle’s medical problems that have troubled him since childhood. 

“I just wanted to find out what has held me back all these years,” he says.

Welcome relief

When the Christy family finally received their long-awaited answer that was revealed through Mayo Clinic’s Department of Clinical Genomics, it was a relief for Debra and Todd, as well as Kyle’s sister and brother. When it was explained that Kyle has a gene mutation, they embraced acceptance mode. “When Dr. Dhamija came into the room, for the first time, out of all the doctor visits we had gone through, she told us, “’We have an answer,’” recalls Debra. “It was just so overwhelming to finally hear that.”

Also relieved to have some answers, Kyle now focuses on his aspirations. “I want to just live my life, get a job and maybe have a family someday—just go where life takes me.”

“It’s genetic, and it can’t change anything, says Debra. “We know moving forward that Kyle was made that way on day one. We don’t have to keep searching and having him tested. That’s huge.”

To learn more about Kyle’s journey to a diagnosis, read the full story and watch a video on Sharing Mayo Clinic.

The latest advances in cancer care

Join us for Individualizing Medicine 2019 Conference: Precision Cancer Care through Immunotherapy and Genomics on Sept. 20-21, in Scottsdale, Arizona. 

Key conference
themes include:

  • CAR-T cell therapy
  • Clonality
  • Pharmacogenomics
  • Lineage Plasticity
  • National Cancer Institute

Stay informed

Want to read more stories like this one?

Register to get weekly updates about new stories on Mayo Clinic Center for Individualized Medicine blog

Join the
conversation

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

Tue, May 7 7:50am · Targeting bile duct cancer - meet Mitesh Borad, M.D.

Mitesh Borad, M.D.

The search for treatment targets for patients with bile duct cancer, also
known as cholangiocarcinoma, has taken a 360 degree turn, offering new
hope for patients. That’s according to Mitesh
Borad, M.D.
, deputy director for
Center for Individualized Medicine Biomarker Discovery Program
at Mayo Clinic’s
Arizona campus
, Dr. Borad and his colleagues are using new genomic
technologies and innovative approaches to data analysis to uncover genetic
mutations driving the disease with the goal of developing new targeted therapies.

Genomics opens door to new treatment options    

The bile duct is a network of tubes that connects the liver, gallbladder and small intestine. Each year, 6,000 patients in the U.S. are diagnosed with bile duct cancer. For years, there were limited treatment options for this rare cancer, with fewer than 10% of patients surviving for five or more years.

“In the past, rare cancers like bile duct cancer did not receive the attention or resources to help identify new treatments. As a result, the biology and genetics of this cancer were poorly understood. At the same time, there was a great unmet patient need for more precise therapies with fewer side effects,” explains Dr. Borad.

But over the last decade, Dr. Borad’s team has refined a framework now used
around the country to open the door for new treatment options.

Using genetic testing on tissue samples from thousands of patients, the team searched for genetic mutations that may be driving the disease. They uncovered more than 25 genetic mutations that hold the potential to be treated with available targeted therapies or immunotherapies, which harness the power of the patient’s own immune system to fight their cancer.

The Mayo team has also shown that newly developed targeted therapies,
known as fibroblast growth factor
receptor (FGFR)
inhibitors, can shrink bile duct tumors in patients who have
mutations in certain FGFR genes. 

“Our initial research in this area is now being validated in larger
scale clinical trials, and we hope results will lead to approval for this new treatment
approach,” says Dr. Borad.

Liquid biopsies – a simple blood test to detect, treat cancer sooner

Dr. Borad and his colleagues are also developing blood tests, known as liquid
biopsies
, to detect traces of DNA shed into the bloodstream from
cholangiocarcinoma tumors.

As he explains, cholangiocarcinoma can be difficult to diagnose, depending
upon where it is located. Frequently, the disease is not diagnosed until it has
advanced and spread to other areas of the body.

“Because of the location of cholangiocarcinoma, it can be difficult to obtain
a high quality tissue sample with a traditional biopsy. Liquid biopsies offer a
faster, non-invasive and lower cost approach to detecting the early signs of
cancer or cancer recurrence. They can also identify specific genetic mutations in
a patient’s tumor that may be targeted with therapies.”

In one of the largest patient studies to date, the
Mayo team used liquid biopsies to analyze tumors from 124 patients with
cholangiocarcinoma.

“We identified several genes, 55% of which may have implications for
treatment options. This could help patients avoid harmful side effects from an
ineffective treatment,” says Dr. Borad.

The team’s next step is to compare the validity of these liquid
biopsies against results from traditional tissue biopsies.

For Dr. Borad, this research has been rewarding. As a hematology and
oncology fellow at Tulane University, he saw the need for developing new
treatments for patients who did not respond to standard therapy or whose cancer
returned after treatment.

Committed to finding answers, he spent three years as a Genomics
Medicine Scholar at Translational Genomics Research Institute (TGen), joining
Mayo Clinic in 2008.

“The new options for patients with bile duct cancer are a perfect
example of how precision medicine can make a real difference. In fact, bile
duct cancer is one of the gastrointestinal diseases most amenable to a precision
medicine approach, offering individualized care based on a patient’s specific
needs.”  

The latest advances in cancer care

Hear from Dr. Borad and other researchers and innovators in oncology at Individualizing Medicine 2019 Conference: Precision Cancer Care through Immunotherapy and Genomics on Sept. 20-21, in Scottsdale, Arizona.

Key conference themes include:

  • CAR-T therapy
  • Clonality
  • Pharmacogenomics
  • Lineage Plasticity
  • National Cancer Institute

Stay informed

Want to read more stories like
this one?

Register to get weekly updates about new stories on Mayo Clinic Center for Individualized
Medicine blog
.

Join the conversation

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

Tue, Apr 2 8:48am · Purna Kashyap, M.B.B.S. - testing the bugs within to maintain health, detect and treat disease

Purna Kashyap, M.B.B.S.

The use of microbiome testing – which analyzes the trillions of bacteria in and on the body – is on the move. It’s going from the research lab into the clinic to help guide patient care. DNA testing technologies have revolutionized researchers’ ability to identify individual bacterial strains driving disease. Now genomic testing is helping diagnose the source of infections, develop personalized diets, find new treatments for functional and inflammatory conditions of the gut and identify new screening tools for certain cancers.

For Purna Kashyap, M.B.B.S., this is just the beginning. As the Bernard and Edith Waterman co-director for the Mayo Clinic Center for Individualized Medicine Microbiome Program, Dr. Kashyap envisions the coming years as a pivotal time for moving the latest discoveries from the lab to new diagnostic tests and individualized microbiome-based therapies for patients.

“Just as genomics plays a key role in personalized medicine, the microbiome also affects our individual health – boosting our immune system, helping us digest food and influencing how we respond to medications. We are each born and live with a unique microbiome. But unlike our genes, the microbiome can be manipulated and changed. That’s why physicians need to consider the role of the microbiome, along with genetics and other factors, especially when treating patients with complex diseases like autoimmune disorders, gastrointestinal diseases, diabetes, obesity and many types of cancer,” says Dr. Kashyap.

Technologies developed in the lab provide answers in the clinic

A high fever, increased blood pressure and rapid heart rate – these are all symptoms that could be caused by an infection. But for some patients, traditional blood tests fail to identify the source of the illness. That’s where microbiome testing technologies developed in the laboratory are already helping to find answers for Mayo Clinic patients. Within a day and in some cases just hours, the testing is revealing the source of a previously undiagnosed infection, allowing for treatment with targeted therapies.

“We can now identify the specific bacteria causing serious infections even though we are not able to culture them” says Dr. Kashyap.

Test results can help physicians choose targeted therapies to treat infections and avoid the use of “dynamite” antibiotics explains Dr. Kashyap.

“Genomic testing allows us to select specific therapies to kill only the bacteria causing the infection, rather than prescribing an antibiotic that eliminates all of the gut bacteria, leaving the patient susceptible to other illnesses,” says Dr. Kashyap.

Next steps – identifying biomarkers to predict, diagnose and treat disease

To expand the use of microbiome testing, Dr. Kashyap and his colleagues are collaborating with the Center’s Clinomics Program to integrate microbiome testing into patient care as well as clinical trials. Their goal is to identify microbiome biomarkers that could be used to develop screening tests to detect early signs of disease or new individualized therapies, tailored to a person’s microbiome.

Going forward, microbiome testing may also provide important information about disease risk for healthy patients.

“This testing could provide healthy patients with information about disease risk and help define steps they can take to manage their health,” says Dr. Kashyap.

Eat this, not that – personalized diets

Dr. Kashyap and his colleagues have recently tested a model that successfully predicted changes in blood glucose (sugar) levels based on an individual’s age, lifestyle habits and microbiome.

“With the model, we can manage blood sugar levels by changing diet to match the microbiome rather than trying to change the microbiome which may take time”” says Dr. Kashyap.

Dr. Kashyap and his team have also uncovered a link between a person’s microbiome and their ability to lose weight.

“In a pilot study, we found that after switching to a lower-calorie-diet rich in fruit and vegetables, some people were able to lose weight more easily than others due to the type of bacteria in their gut.”

Learn more about the team’s research here.

Matching research to patient needs – a focus on gut health

Throughout his career as a gastroenterologist, Dr. Kashyap has focused on conducting research to meet the needs of his patients.

He has explored how gut bacteria control normal gut function and contribute to the development of gastrointestinal disorders, such as irritable bowel syndrome.

In addition, he has investigated how bacteria lead to opportunistic infections that can become life threatening, such as c. difficile, which can occur after a patient has had a prolonged stay in a hospital or nursing facility. The Mayo team has used new treatment approaches, including fecal transplants, to restore these patients’ gut microbiome with healthy bacteria.

“Some patients have a microbiome composition that makes them more susceptible to c. difficile infection. We are working on strategies to prevent the infection as well as develop a treatment with a bacteria-containing pill.”

For Dr. Kashyap, these research efforts are just the tip of the iceberg. “As we learn more, we’ll be able to offer patients better screening and treatment for a wide range of diseases, tailored to their unique needs.”

Pushing the envelope to uncover causes, new treatments for colorectal cancer

Read the related article, highlighting Microbiome Program co-director Nicholas Chia, Ph.D., and his research to uncover early signs of colorectal cancer to improve screening and treatment for the disease.

###

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Tue, Mar 26 8:48am · Lifesaving information - genetic testing reveals risk, steps to prevent aortic dissection

Stephanie Van Doren and her family

Stephanie Van Doren never realized that taking 30 mile bike rides in the Florida heat was putting her life at risk. But, care for digestive problems also uncovered that she was at risk for an aortic dissection, a potentially fatal condition that could occur with intense exercise. Her care team at Mayo Clinic’s campus in Florida quickly connected the dots. Her family history and physical exam painted a picture that pointed to a hereditary condition. They recommended genetic testing and the results provided lifesaving information to Van Doren and her family.

Unraveling a medical mystery through genetic testing

Sarah Macklin

Van Doren met with Sarah Macklin, a genetic counselor in the Department of Clinical Genomics and Center for Individualized Medicine.

During the first appointment, Macklin mapped Van Doren’s family medical history for three generations. They also discussed the benefits, risks, and limitations of testing, and what steps could be taken if any of the tests came back positive.

Van Doren had testing to explore two questions: did she have any identifiable genetic risk factors that significantly increased her risk of having a thoracic aortic aneurysm and aortic dissection? Did she have any identifiable genetic risk factors that significantly increased her risk for breast cancer since her sister had died from the disease at a young age?

Results showed that she did have the genetic risk factor for aortic dissection, but did not have a genetic risk identified for breast cancer.

“I was devastated that I was at increased risk for aortic dissection. This runs deep in my family and I had seen firsthand how it has affected my relatives,” she says.

Many members of Van Doren’s family had an aortic dissection at a young age. The condition can be life threatening and occurs when the inner layers of the aorta, the large blood vessel branching off the heart, tear.

As a result, she and her family decided that her children should also have genetic testing. They met with Macklin to learn more about the process and implications.

“This second conversation is much different than the first,” explains Macklin. “We now are looking for a particular genetic variant that has been identified in a parent or other family member. We take time to explain to children – in terms that they can understand – what we are looking for, why we are looking for it and what it will mean if the test comes back positive.”

“It’s very important to be honest with children so they can understand and agree to have the testing, even if they are not old enough to give the consent themselves.”

Two of Van Doren’s three children have the gene variant linked to aortic dissection. She received these results first and then shared them with her children.

“It was important for me to have time to process the results myself and then explain them to my children,” she says.

Macklin also shared the genetic test results with Mayo specialists in Cardiovascular Medicine who are providing Van Doren e and her children with the monitoring and follow up care they need to stay healthy.

“Never did I imagine that I would have genetic testing, but thankfully I did – the results probably saved my life and will help my children live a healthier life.” she says. “It’s difficult to learn that you are at risk for such a serious condition. But now we have the information we need to be proactive and stay healthy.”

Know and share your family medical history with your health care team 

Timothy Woodward, M.D.

Van Doren first came to Mayo seeking relief from digestive problems. It was her gastroenterologist, Timothy Woodward, M.D., who first recognized that her family history plus characteristics he observed during her physical exam pointed to the possibility that she had a hereditary condition.

“Ms. Van Doren did what we hope all patients will do – know and share their family medical history with their physicians,” says Dr. Woodward. “This information plus a complete clinical evaluation allows us to provide patients with individualized care, tailored to their needs.”

Moving forward – living life to the fullest

“I have always led a very active lifestyle – enjoying skydiving and leading group fitness classes. Now I am unable to do these things. I can exercise, but I need to pay close attention to my heart rate and avoid intense exertion. My children can still do many of the activities they love and will continue to be monitored as they grow,” Van Doren explains.

Looking back, she reflects that there were definitely highs and lows during the genetic testing process. Thanks to the coordinated efforts of her Mayo Clinic care team, she and her family found the answers they needed.

“We have moved on – each day is filled with activities for 3 busy children – we’re living life to the fullest.”

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