Advancing the Science

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6 days ago · Mayo Clinic discovery advances potential individualized treatment for mesothelioma

Large chromosomal rearrangements present in mesothelioma could make it possible to understand which patients are likely respond to immunotherapy,  researchers at the Mayo Clinic Center for Individualized Medicine  have discovered. The research is published in the Journal of Thoracic Oncology.

Aaron Mansfield, M.D.

“What we’ve shown so far is that these large complex chromosomal rearrangements are frequent in mesothelioma and may provide a source of neoantigens (cancer proteins) that the immune system can recognize,” says Aaron Mansfield, M.D., a Mayo Clinic oncology researcher and lead author on the paper. “It would be an entirely new way of predicting response.”

This finding is significant in part because the prognosis is often poor for mesothelioma — a rare, aggressive form of cancer  linked to asbestos exposure that forms on tissue lining in the lungs, heart and abdomen. There is no cure, and standard cancer treatment of chemotherapy, radiation and surgery doesn’t work for everyone.

“Mesothelioma does not have many of the mutations that are common in other cancers. Instead, there were chromosomal rearrangements that may have prognostic and therapeutic implications,” says Dr. Mansfield. “There were many more rearrangements than we expected. We were able to identify complex patterns of rearrangements called chromothripsis and chromoplexy. The extent of these patterns has never before been described in mesothelioma.”

Many types of DNA changes are known to be present in cancer cells. Using advanced genomic technology, a research team at Mayo Clinic was able to zero in on precise genetic variants driving mesothelioma. They used a new technology known as mate-pair sequencing, which looks at chromosomal rearrangements.

George Vasmatzis, Ph.D.

“Mate pair sequencing is an inexpensive way to scan the whole genome of tumor cells for chromosomal abnormalities that could give rise to cancer–causing proteins. By detecting all these abnormal junctions, mate pair sequencing reveals a new biological marker for predicting response to immunotherapy,” says George Vasmatzis, Ph.D., co-director of the Center for Individualized Medicine Biomarker Discovery Program, and final author on the study.

The Mayo Clinic team hopes this early research will lay the foundation for predicting which patients with mesothelioma are most likely benefit from immune checkpoint inhibitors. That class of drugs unleashes the power of each individual’s immune system to attack cancer cells.

Additional research is needed to verify the findings.

The study was funded by Leah and Richard Lommen, Mayo Clinic Center for Individualized Medicine Biomarker Discovery Program and National Institutes of Health grant NIH K12 CA90628.

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This article originally was published on the Center for Individualized Medicine blog on Nov. 26, 2018.

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Thu, Jan 17 6:00am · RIGHT 10K: Blazing a trail to health care's future

Article by Barbara Toman

This article originally appeared on the Center for Individualized Medicine blog

Mayo Clinic’s Center for Individualized Medicine (CIM) is nearing the finish line of the first stage of its unique RIGHT 10K study—an effort that doesn’t involve running shoes but nevertheless is paving the way to prescribing medications matched to a person’s genetic code.

RIGHT 10K is a clinical research project to genetically sequence more than10,000 individuals and place the results in those individuals’ electronic health records (EHRs). That information is critical because genetic differences can affect how a person processes and responds to medications. The right drug matched to a person’s genetic makeup could maximize the drug’s therapeutic benefit. However, the wrong drug or dosage can make a medication ineffective or even fatal.

Loading this “pharmacogenomic” information into EHRs is a huge challenge. Mayo’s early adoption of this strategy and comprehensive approach can guide providers as pharmacogenomics reshapes medical care.

Jessica Wright, Pharm.D. R.Ph.

“We’re now able to tell if patients could be at increased risk of therapeutic drug failure or devastating side effects. It’s critical to get that information preemptively into EHRs so that providers can be reliably notified of any adverse drug-gene interaction at the point of care,” says Jessica A. Wright, Pharm.D., R.Ph., a Mayo Clinic pharmacist specializing in pharmacogenomics.

Launched in 2016 in collaboration with Baylor College of Medicine and OneOme, a company that Mayo co-founded, RIGHT 10K will have entered data from all 10,000-plus patients into the EHR by the end of 2018. A OneOme interpretive report for 76 pharmacogenes are included in the data. Thirteen of those pharmacogenes can trigger an onscreen alert, if a physician inputs a prescription that might be ineffective or harmful for a particular patient based on their genes. The physician can then prescribe a different medication or adjust the dose.

The number of patients and pharmacogenes makes RIGHT 10K the most comprehensive effort to date to place pharmacogenomic information in individuals’ medical records. RIGHT 10K will systematically evaluate the impact of these clinical-decision alerts to determine if they improve prescribing decisions and ultimately health care. The lessons learned by Mayo Clinic can guide providers in the pharmacogenomics era.

Eric Matey, Pharm.D., R.Ph.

“Through RIGHT 10K we are training multiple healthcare providers at Mayo Clinic about pharmacogenomics. There is an opportunity for us to provide assistance and educate pharmacists elsewhere,” says Eric T. Matey, Pharm.D., R.Ph., a Mayo Clinic pharmacist specializing in pharmacogenomics.

Meeting the technical challenges

Complex pharmacogenomics information must be easily accessible for busy clinicians. “Having an effective computerized system is essential because it’s quite overwhelming for patients and their providers to remember pharmacogenomic testing results,” Dr. Wright says. “Pharmacogenomic information is stored in the EHR in ways that can enable alerts to clinicians and provide links to guidance when most needed.”

Another challenge is avoiding the overuse of alerts, which can interrupt workflow in busy clinics and possibly cause providers to ignore the popups. “Rather than bombarding providers, we limit the number of alerts they really need to pay attention to, in order to avoid harm to patients,” Dr. Matey says.

Mayo Clinic is also committed to designing EHRs that can easily incorporate new information —on a newly discovered pharmacogene, for example. A person’s genome doesn’t change; but our understanding of pharmacogenes improves as research advances. “Updating information in the electronic health records is a challenge we’re working on,” Dr. Wright says.

Although pharmacogenomics information will increasingly be considered an essential part of a patient’s medical record, EHRs will never replace clinicians.

“Pharmacogenomic results must not preclude clinical judgment. If a patient is doing well on a certain medication, but the pharmacogenomics test results are stating otherwise, the clinician should go ahead and use clinical judgment and continue the medication,” Dr. Matey says. “However, to avoid harm, we must work to give providers the information they need to make these clinical judgments.”

 

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Thu, Jan 10 6:00am · Gene therapy: potential and pitfalls

Research is advancing gene therapy as a possible treatment or eventual cure for genetic diseases that bedevil modern science. Gene therapy was conceived over 20 years ago, and until recently, remained largely in the research lab. But gene therapy products are now beginning to be approved by the U.S. Food and Drug Administration for clinical care. Physician-scientists are intrigued with exploring its possibilities for transforming medical practice.

Gene therapy seeks to target faulty genes that are driving disease and either correct or replace them. Imagine your entire genome as an electric master board that controls physical characteristics and bodily functions. A genomic variant would be the burned out fuse causing disease. Gene therapy would target the defective fuse and either replace it or add a new fuse to get everything functioning correctly.

Mayo’s research

As an example of the potential, David Deyle, M.D., of the Mayo Clinic Department of Clinical Genomics and Center for Individualized Medicine Clinomics Program, is using gene therapy in his research into possible treatments for osteogenesis imperfecta, also known as brittle bone disease. People with this devastating rare genetic disorder suffer with bones that break easily and often. Caused by a defect in the protein known as collagen, brittle bone disease has no cure.

David Deyle, M.D.

“My research has shown that when we conduct gene targeting, we can take cells from patients and correct the gene so the cells produce normal collagen. In brittle bone disease, collagen is abnormal and the bones do not function appropriately. But, if we use this virus to target and correct the gene, we can generate cells that produce normal collagen,” says Dr. Deyle. “It may not change every cell in the body, but it might have the potential to one day improve quality of life for these patients.”

How gene therapy works

Gene therapy is performed two different ways. In one method, a new gene is injected into the body using a virus or another delivery method. The virus acts like a delivery vehicle to introduce the new gene into diseased cells to repair or replace the flawed gene. An example of this might be new treatments which have been developed for hemophilia, a disease from which patients experience easy and frequent bleeding.

“We can use a small DNA virus that incorporates the human DNA sequence inside that virus and using the cell’s own machinery, it has the potential to not just replace the defective gene, but new technology also suggests that we can fix mutations within the cell,” Dr. Deyle says.

In the other method, gene therapy is done outside the body. A gene is added to a specific cell type for example blood or bone marrow and then injected into the bloodstream. The hope is that the cells will divide and replace all defective cells. Treatments for diseases like thalassemia that affect the blood system are good targets.

CAR T-cell therapy, which seeks to harness the power of the immune system by genetically modifying cells to attack cancer, is a new form of gene therapy. CAR T, a form of gene therapy currently used in patient care at Mayo Clinic, is offered as treatment for patients with B-cell leukemias and lymphomas.

Saad Kenderian, M.D.

“CAR T-cell therapy is definitely a type of gene therapy. The therapy relies on the insertion of genetic materials into the patient own immune T-cells to make them recognize cancer cells,” says Saad Kenderian, M.D.

Potential of gene therapy

FDA has recently approved gene therapy as a treatment for certain types of genetic eye diseases like retinal dystrophy. Gene therapy has been mentioned as a possible treatment for genetic liver disease, heart disease, diabetes, hemophilia, AIDS and many other conditions.

Possible pitfalls

The human genome is made up of billions of base pairs and approximately 20,000 genes. Finding the exact gene to target and correct can be like looking for a specific grain of sand on the beach. Another challenge is targeting specific cell types that will improve disease.

“How do you target the cell population that you want and not affect the whole body if you don’t want it to? You don’t want proteins turned on in all parts of the body. For example, when targeting muscle proteins, you want proteins in your muscles, not in your blood vessels or skin,” Dr. Deyle says.

While gene therapy is just starting to be introduced in the clinic, research to advance this individualized approach to care is in various stages. Dr. Deyle’s gene therapy research is in early stages. He says there are some hurdles to overcome, and it will take several years before there are gene therapy trials for brittle bone disease.

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This article originally appeared on the Center for Individualized Medicine blog on Nov. 19, 2018.

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Dec 20, 2018 · Discovery advances potential individualized treatment for mesothelioma

This article originally ran on the Center for Individualized Medicine blog on November 26, 2018

Large chromosomal rearrangements present in mesothelioma could make it possible to understand which patients are likely respond to immunotherapy,  researchers at the Mayo Clinic Center for Individualized Medicine  have discovered. The research is published in the Journal of Thoracic Oncology.

Aaron Mansfield, M.D.

“What we’ve shown so far is that these large complex chromosomal rearrangements are frequent in mesothelioma and may provide a source of neoantigens (cancer proteins) that the immune system can recognize,” says Aaron Mansfield, M.D., a Mayo Clinic oncology researcher and lead author on the paper. “It would be an entirely new way of predicting response.”

This finding is significant in part because the prognosis is often poor for mesothelioma — a rare, aggressive form of cancer  linked to asbestos exposure that forms on tissue lining in the lungs, heart and abdomen. There is no cure, and standard cancer treatment of chemotherapy, radiation and surgery doesn’t work for everyone.

“Mesothelioma does not have many of the mutations that are common in other cancers. Instead, there were chromosomal rearrangements that may have prognostic and therapeutic implications,” says Dr. Mansfield. “There were many more rearrangements than we expected. We were able to identify complex patterns of rearrangements called chromothripsis and chromoplexy. The extent of these patterns has never before been described in mesothelioma.”

Many types of DNA changes are known to be present in cancer cells. Using advanced genomic technology, a research team at Mayo Clinic was able to zero in on precise genetic variants driving mesothelioma. They used a new technology known as mate-pair sequencing, which looks at chromosomal rearrangements.

George Vasmatzis, Ph.D.

“Mate pair sequencing is an inexpensive way to scan the whole genome of tumor cells for chromosomal abnormalities that could give rise to cancer –causing proteins. By detecting all these abnormal junctions, mate pair sequencing reveals a new biological marker for predicting response to immunotherapy,” says George Vasmatzis, Ph.D., co-director of the Center for Individualized Medicine Biomarker Discovery Program, and final author on the study.

The Mayo Clinic team hopes this early research will lay the foundation for predicting which patients with mesothelioma are most likely benefit from immune checkpoint inhibitors. That class of drugs unleashes the power of each individual’s immune system to attack cancer cells.

Additional research is needed to verify the findings.

The study was funded by Leah and Richard Lommen, Mayo Clinic Center for Individualized Medicine Biomarker Discovery Program and National Institutes of Health grant NIH K12 CA90628.

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

 

Nov 15, 2018 · Meet Lisa Schimmenti: Searching for drug therapies to treat hearing loss

This article originally appeared on the Center for Individualized Medicine blog on Oct. 4, 2018

Article by Sharon Rosen

 

Lisa Schimmenti, M.D.

Lisa Schimmenti, M.D. has always been fascinated with Helen Keller and all she accomplished, in spite of being blind and deaf from a very young age. As the newly appointed chair of Mayo Clinic’s Department of Clinical Genomics and a medical geneticist, Dr. Schimmenti cares for patients with similar conditions.

In her clinical practice, she sees children and adults with Usher syndrome, a rare genetic condition that causes deafness or profound hearing loss at birth and blindness by the time a child turns five. With support from the Center for Individualized Medicine and the Department of Otorhinolaryngology, Dr. Schimmenti is using zebrafish to search for drug therapies that could help restore hearing for these patients.

During her career, she’s seen how genomic discoveries have uncovered the causes of many rare diseases and led to the development of new targeted treatments for many more common diseases like cancer and heart disease. Now in her new role overseeing the Department of Clinical Genomics, Dr. Schimmenti is working to extend genomics medicine across all specialties at Mayo Clinic.

“Our clinical geneticists and genetic counselors are collaborating with all departments to facilitate the use of the latest genomic testing technologies to help improve care for all patients.” – Lisa Schimmenti, M.D.

“Our clinical geneticists and genetic counselors are collaborating with all departments to facilitate the use of the latest genomic testing technologies to help improve care for all patients,” says Dr. Schimmenti.

Here’s a closer look at how she’s using the latest genomics tools in her own research to uncover a treatment for hearing loss.

Restoring hearing to boost language development

For newborns diagnosed with Usher syndrome, the only current treatments available for hearing loss are devices such as hearing aids or cochlear implants. However, cochlear implants cannot be implanted until an infant is 12 months old and many infants do not benefit from a hearing aid alone.

“If we can identify a drug to improve hearing, we can help newborns hear sooner, at a time when language development is so critical. They may then be able to use a hearing aid while awaiting a cochlear implant,” says Dr. Schimmenti.

Zebrafish – the perfect model for drug discovery

Dr. Schimmenti and her team are using zebrafish, a type of freshwater fish, to test drug compounds to improve hearing.

“We are able to use zebrafish to model the conditions that we see in the clinic because they share 70 percent of their genes with humans. The same gene that causes Usher syndrome in humans also causes the syndrome in zebrafish,” says Dr. Schimmenti.

The research team tests different therapies by putting the medication into the water. They then measure changes in the hair cells on the zebrafish, which are an important link in the sensory process for hearing, to identify any changes.

The team’s early research results are promising. The next step is to test therapies that have been shown to improve hearing in mouse models.

“While we are early in the research process, the prospect of finding a drug to bypass some of the genetic defects in the sensory process that are causing deafness is very exciting. It’s possible that these therapies could also be applied to treat hearing loss caused by other conditions. For example, some cancer treatments can cause nerve damage and hearing loss. The implications of these discoveries could eventually be far reaching.” – Dr. Schimmenti

“While we are early in the research process, the prospect of finding a drug to bypass some of the genetic defects in the sensory process that are causing deafness is very exciting. It’s possible that these therapies could also be applied to treat hearing loss caused by other conditions. For example, some cancer treatments can cause nerve damage and hearing loss. The implications of these discoveries could eventually be far reaching,” says Dr. Schimmenti.

A passion for genetics

Dr. Schimmenti became interested in genetics early in her medical training. However, she chose a different path before returning to genetics as the focus of her career.

“During my pediatrics training at Harbor-UCLA Medical Center, I saw many young patients with severe hearing loss and was surrounded by outstanding mentors who were working to uncover the genetic causes of these conditions. But at the time, the Human Genome Project, the first mapping of an entire human genome, had not been completed. Genomic discovery was in the early stages, so I chose to pursue a fellowship in critical care at Yale University rather than continue in genetics,” says Dr. Schimmenti.

As progress in genomic discovery continued and genetic variants linked to hearing loss were identified. Dr. Schimmenti decided to return to her true passion – working in the lab to uncover new therapies for the patients with rare genetic diseases that she cared for in the clinic.

She returned to University of Minnesota to complete her genetics fellowship and begin her work using zebrafish to better understand the genetic and molecular processes driving hearing loss.

And she’s never looked back.

“It’s exciting to use genomics to search for a drug that could treat hearing loss and make a real difference for patients. At the same time, I am excited to collaborate with all medical specialties across Mayo Clinic to see how we can extend genomics services to all patients and enhance individualized care for many conditions,” says Dr. Schimmenti.

Learn more about individualized medicine

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

See highlights from Individualizing Medicine: Advancing Care Through Genomics, which was held Sept. 12-13 in Rochester, Minnesota:

Nov 6, 2018 · Mayo Clinic research combines genetics and psychiatry to seek biomarkers for precise alcohol abuse therapies

This article originally appeared on the Center for Individualized Medicine blog on Oct. 23, 2018.

Mayo Clinic research is bringing together knowledge of psychiatry, genetics, metabolomics, pharmacogenomics and artificial intelligence to seek biological markers associated with alcohol use disorder and treatment response. Finding the molecular drivers of alcohol use disorder commonly known as alcoholism, could help predict who is most likely to develop this disorder and who might respond to medications approved for treatment. It might also reveal insights into new medications when standard drugs don’t work and could guide health care providers to precise treatments.

Victor Karpyak, M.D., Ph.D.

“Alcohol use disorder is one of the most prominent mental health problems in the world, second only to depression in terms of burden of disease,” says Victor Karpyak, M.D., Ph.D., a Mayo Clinic psychiatrist, co-principal investigator and leader of the integrated study team. “Only about 10 percent of those with alcohol use disorder seek therapeutic help. We believe that’s because people don’t expect medications to be efficient and helpful in treatment, which is unfortunate and factually incorrect.”

The Food and Drug Administration has approved three medications for treatment of alcohol use disorder. However, they don’t work for everyone. There are no known biomarkers that reliably predict which patients would be good candidates for these therapies.

“Tragically, there are some people who have biological characteristics which make them more susceptible to  alcoholism. What we’d like to do is better understand the genetic and molecular underpinnings of this susceptibility, so we can understand drug response and take an individualized approach to helping these patients overcome alcohol use disorder,” says Richard Weinshilboum, M.D., one of the researchers involved in this project and co-director of the Mayo Clinic Center for Individualized Medicine Pharmacogenomics program.

In a team science approach, Mayo Clinic will launch a coordinated study in conjunction with and funded by two National Institute on Alcohol Abuse and Alcoholism grants. The study will focus on the search for genetic markers of response to the drug acamprosate, which has been shown to help alcoholics stay sober.

“For some of our patients, the medicine known as acamprosate is a remarkably effective supplement to the clinical therapy and peer support, helping to curb cravings during and after treatment,” says Marvin D. Seppala, M.D., chief medical officer of the Hazelden Betty Ford Foundation, which is collaborating on the study. “Unfortunately, we have no idea who it will work for and who it won’t, so we just provide it to patients and hope that it helps.”

The five-year study expands previous pharmacogenetic research completed by the Mayo Clinic Department of Psychiatry by scanning the entire genome and metabolome in search for biological markers — clues to disease cause and treatment.

“Knowledge of the biology of alcohol use disorder and response to medication may allow us to zero down on meaningful molecular targets and see how we can intervene with genetic manipulations or new medications to reduce a person’s vulnerability to this disease,” says Dr. Karpyak.

Applying pharmacogenetics for an individualized treatment approach on a large scale

Researchers will follow 800 people receiving care for alcohol use disorder through Mayo Clinic affiliates as well as at the Hazelden Betty Ford Ford Foundation’s residential treatment facility in Center City, Minnesota. Study participants will have genetic testing to identify variants to help predict their response to the use of acamprosate or placebo.

The study will then combine pharmacogenomics — how the body processes and responds to medication — and metabolomics — small molecules known as metabolites that interact in the body — to try to better understand why the drug works for some but not others.

Richard Weinshilboum, M.D.

“We will look at the metabolites in their blood and bring together metabolomics with genomics. We hope that using the drug as a molecular probe will help us determine if there are different genes that might affect how each individual responds to anti-alcohol therapy,” says Dr. Weinshilboum, co-principal investigator of this study. “When we have used this approach before for psychiatric diseases like depression, we identified genes that we had never heard of before that appeared to be related to drug response, and then we used artificial intelligence and machine learning techniques to incorporate that information into a predictive algorithm.”

Researchers hope that if they find new genes linked to alcoholism treatment response, they might be able to identify new therapies compatible with a patient’s genetic fingerprint. That’s important in part because alcohol use disorder is linked to a number of other mental health conditions as well as conditions such as fetal alcohol spectrum disorders, hypertension, cardiovascular diseases, type 2 diabetes and liver cirrhosis.

This study  reflects many years of collaborative work and support between the Mayo Clinic Department of Psychiatry and Psychology, the Mayo Clinic Center for Individualized Medicine Pharmacogenomics Program, and the Samuel C. Johnson Genomics of Addiction Program.

Beside Dr. Karpyak and Dr. Weinshilboum, the study team includes:
Joanna Biernacka, Ph.D., co-principal investigator
Doo-Sup Choi, Ph.D., co-principal investigator
Mark Frye, M.D. chair, Mayo Clinic Department of Psychiatry and Psychology

The research team would like to give special recognition to the late David Mrazek, M.D., upon whose pioneering work this study builds.

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If you’d like to learn more about pharmacogenomics and its broader applications, Dr. Weinshilboum will be a featured speaker at “Drugs & Genes: Pharmacogenomics for the Modern Health Care Team, Nov. 30 – Dec. 1, 2018 in Arizona. Sponsored by the Center for Individualized Medicine, “Drugs & Genes” will be held at the Scottsdale Marriott in Scottsdale, Arizona.

 

 

 

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

 

Coverage from the 2018 Individualizing Medicine Conference:

Oct 24, 2018 · Bringing pharmacogenomics to your medical practice

After decades of research, pharmacogenomics is “ready for prime time” so to speak. Mayo clinic is a leader in moving pharmacogenomics into clinical care with the goal of helping providers identify medications that are compatible with their patients’ genetic profiles. Drugs and Genes: Pharmacogenomics for the Modern Health Care Team 2018 is an opportunity to learn from the experts at Mayo Clinic. The two-day course, sponsored by Mayo Clinic Center for Individualized Medicine, will be held in Scottsdale, Arizona on Nov. 30 and Dec. 1. Drugs and Genes will provide an introduction to the basic science of pharmacogenomics and information on how you may integrate it into your daily practice.

Fadi Shamoun, M.D.

Mayo Clinic experts in pharmacogenomics will share knowledge, personal experience, and case studies. One of the presenters will be Fadi Shamoun, M.D., a consultant and assistant professor in the Department of Cardiovascular Diseases at Mayo Clinic’s campus in Arizona. Dr. Shamoun will speak about pharmacogenomics, not only from a clinician’s perspective, but also from that of a patient. He learned the personal value of pharmacogenomics when he went through pharmacogenomics testing himself. His test results turned him into a true believer in the value of pharmacogenomics drug-gene testing.

“I knew that pharmacogenomics tests were used to help physicians select the right drug and right dose for patients. But I was still skeptical. However, I had an ‘aha moment’ when I saw my own test results revealed a sensitivity to Warfarin, a blood thinning medication used for patients with heart disease. As a cardiologist, I deal with this drug every day but never knew how it might affect me. I learned if I ever take this drug, my dosage would need to be adjusted to avoid side effects such as severe bleeding. I am now a true believer in the importance of pharmacogenomics,” says Dr. Shamoun.

For a full list of presenters, and to register, visit the Drugs and Genes website.

 

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Oct 22, 2018 · Personalized screening: finding and treating breast cancer sooner

This article originally appeared on the Center for Individualized Medicine blog on Oct. 15, 2018.

Article by Sharon Rosen

Deborah Rhodes, M.D.

October is Breast Cancer Awareness Month, a time to reflect on new, individualized approaches to detecting and treating a cancer that affects 1 in 8 American women. Deborah Rhodes, M.D. and her Mayo Clinic colleagues are working to identify the best targeted screening tools and guidelines for women with a higher risk of developing breast cancer – those with dense breast tissue and those with an inherited genetic variation linked to the disease.

With support from the Center for Individualized Medicine, Dr. Rhodes and her colleagues have developed research to find the best way to screen for breast cancer in these populations, with the goal of detecting and treating the disease sooner.

“It’s critical to detect breast cancer early because survival is linked to tumor size at the time a patient is diagnosed. If we discover a tumor when it is less than one centimeter, that patient has over a 90 percent chance of surviving. That’s why we are evaluating how to use new imaging techniques and genetic tests to provide the best care for patients who are at higher risk of developing breast cancer.” – Deborah Rhodes, M.D.

“It’s critical to detect breast cancer early because survival is linked to tumor size at the time a patient is diagnosed. If we discover a tumor when it is less than one centimeter, that patient has over a 90 percent chance of surviving,” says Dr. Rhodes, a Mayo Clinic Breast Clinic physician. “That’s why we are evaluating how to use new imaging techniques and genetic tests to provide the best care for patients who are at higher risk of developing breast cancer.”

Evaluating screening tools for women with dense breast tissue

According to Dr. Rhodes, the 27.6 million women in the U.S. who have dense breast tissue may not be effectively screened with mammography alone. Many states have laws that require physicians to notify women if they have high breast density and how this affects breast cancer detection and risk.

As Dr. Rhodes explains, “We want to build awareness so that women understand that high breast density is the primary reason for missed or delayed breast cancer detection. Dense breast tissue can mask cancer tumors on mammography. Since high breast density increases a woman’s risk of developing breast cancer, it’s important that we find effective screening methods to identify the cancer early, when it is most treatable,” says Dr. Rhodes.

Since there are no consensus guidelines on how best to screen these patients, Dr. Rhodes and her colleagues are conducting a comprehensive evaluation of two screening approaches – 3-D mammograms and molecular breast imaging (MBI).

3-D mammograms have replaced 2-D mammograms as the standard screening tool in many centers. Research has shown that the main benefit of a 3-D mammogram is that it reduces the chance that a patient will be recalled for additional testing because of findings that are false positives and not due to cancer.

“MBI has been shown to more clearly distinguish between dense breast tissue and tumors. In a Mayo Clinic study, MBI detected more than three times the number of cancers compared to 2-D mammograms. We’re exploring whether MBI provides this same advantage over 3-D mammograms,” says Dr. Rhodes.

In addition to comparing cancer detection rates, the Mayo MBI research team is also analyzing the costs associated with each screening method.

Carrie Hruska, Ph.D.

“One of the advantages of MBI is that it can be performed at a relatively low cost, comparable to the cost of a mammogram, and many insurance carriers are starting to cover MBI for screening,”says Carrie Hruska, Ph.D., a Mayo Clinic physicist. “In current trials, researchers are tracking the costs of MBI screening as well as costs of downstream testing generated by findings on MBI and 3-D mammograms in order to compare their cost-effectiveness.”

The team is also addressing a common concern about the higher radiation dose used in MBI, compared to 3-D mammograms. Dr. Hruska and physicist Michael O’Connor, Ph.D. have made several modifications to the MBI system to permit the exam to be performed at a low radiation dose that is safe for routine screening.

The researchers are aiming to lower the radiation dose even further to the same level as a mammogram by applying an image processing algorithm to reduce “noise” in the MBI images. In preliminary studies, using this mathematical model allowed radiation dose to be cut in half, yet the ability to detect breast cancers was preserved.

“We’re carefully evaluating both screening tests and hope to have substantial data to support cancer screening recommendations for patients with dense breast tissue – recommendations that are needed to save lives through earlier detection and treatment,” says Dr. Rhodes.

Hereditary breast cancer – guidelines for a lifetime of care

Mayo researchers and physicians are also collaborating to streamline care for patients whose breast cancer is linked to inherited genetic mutations. A finding of hereditary cancer could lead to changes in treatment, and it could alert other family members that they may also be at a higher risk of developing breast cancer.

Along with Myra Wick, M.D., Ph.D., Dr. Rhodes is co-chair of the Mayo Clinic Familial Cancer Cross Disciplinary Disease Group. The group brings together experts from many specialties –radiology, genetics, surgery, gynecology, oncology, endocrinology, laboratory medicine, pathology and primary care. Their goal is to identify the best care guidelines for patients who either have or are suspected to have a genetic variant linked to hereditary cancer.

“Whether these patients have already been diagnosed with hereditary breast cancer or have a family history suggesting they may have a hereditary breast and ovarian cancer syndrome, we want to identify the best care pathway for them. We’re mapping each patient scenario to determine how to guide their medical care over a lifetime,” says Dr. Rhodes.

Learn more about individualized medicine

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

See highlights from Individualizing Medicine: Advancing Care Through Genomics, which was held Sept. 12-13 in Rochester, Minnesota:

 

 

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