Posts (6)

6 days ago · Genetic tests + coordinated care + research = hope for patients with a genetic neurological disease

Life with an inherited disease sometimes brings unexpected twists and turns. Five-year-old Gus Erickson has navigated the gyrations with the help of Mayo Clinic’s Neurofibromatosis Clinic. Neurofibromatosis (NF) is a genetic disorder that causes tumors to form on nerve tissue. Those tumors can develop anywhere in the nervous system, including the brain, spinal cord and on skin. Gus is one of some 400 neurofibromatosis patients from around the world treated at Mayo, which is the only medical center that specializes in care for all three types of NF: NF1, NF2 and Schwannomatosis.

Dusica Babovic-Vuksanovic, M.D.

“Mayo Clinic offers a comprehensive, multidisciplinary approach to treating NF patients. We serve as the entry point to care. We have access to all needed specialties like ophthalmology, orthopedics, dermatology, neurology and psychology that can address complications of the disease,” says Dusica Babovic, M.D., of the Department of Clinical Genomics, who heads Mayo Clinic’s Neurofibromatosis Clinic.


Gus’ story

 

Gus Erickson, like many boys his age, has a passion for superheroes. Gus’ own superhero-like courage and strength provide the inspiration his family needed to endure his medical challenges. As a baby, Gus was diagnosed with NF1, the most common type of neurofibromatosis. NF1 can produce tumors, brown spots and freckling, even in areas not exposed to the sun. When he was three, Gus started growing fast and not gaining weight. Magnetic resonance imaging revealed a racquetball-sized tumor on the pituitary gland in his brain – a complication of this disease. Six days later, Gregg and Becky Erickson handed their little boy over to Mayo’s neurosurgery team. His mom and dad had great trust and hope in Mayo’s surgeon but, like any parents would be, they were terrified.

“It was the hardest thing we ever did. It was the longest day we’ve ever lived. We didn’t know what kind of brain damage Gus might be left with or if we’d even get our baby back at all. And we steeled ourselves for the worst,” says Becky Erickson, Gus’ mother.

Gus Erickson

 

Gus’ neurosurgeon had warned Gus’ parents that he may be stunned for a few days, not recognizing them or having the ability to interact in a normal way. Anxiety gave way to relief in the recovery room, though, when Gus’ mom held a cup of water to his mouth and Gus said, determinedly, “I hold it.”

His journey to wellness faced another hurdle. Just days after his surgery, his parents noticed a buildup of fluid that was causing a swelling in his head. This required another risky procedure: a spinal tap to drain the fluid.  If that didn’t work, Gus would require another surgery to place a permanent shunt in his brain.

“There was a 50/50 chance the spinal tap would work,” said Gregg Erickson, Gus’ dad. “It was performed two days after we brought Gus home from the hospital. We waited another two days, and when we woke up that Sunday, the swelling had gone away. It was June 21st, 2015 – the best Fathers’ Day I’ve ever had.”

 

 

 

Mayo Clinic’s role

Mayo’s Neurofibromatosis Clinic is also the medical base for overseeing NF type 2, which impacts one in up to 40,000 individuals whose disorder may produce head and spinal tumors. It also offers specialized multidisciplinary care for the third NF type, which is known as Schwannomatosis, the adult onset version of NF.

The Neurofibromatosis Clinic offers the following services to address unmet patient needs:

  • Establishing diagnosis based on clinical signs and comprehensive genetic testing
  • Coordinating long-term care
  • Providing genetic counseling and screening for family members at risk
  • Referring cases with unexplained conditions to research to find medical answers and treatment

The Neurofibromatosis Network awarded Gus the 2017 NF Champion award for all his courage and optimism in coping with NF. His father, Gregg, founded the North Central Chapter of the NF Network in October 2016, representing Minnesota and Wisconsin, in efforts to lobby for federal research funding to advance treatment of NF.

 

 

Register for the 2017 Individualizing Medicine Conference

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

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

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

 

 

Tue, May 30 10:00am · IMPRESS study: maximizing immunotherapy with precision biomarkers to fight cancer

Mayo Clinic researchers are doing a deep dive at the molecular level to maximize the potential of immunotherapy to fight cancer. Immunotherapy — using your body’s immune system to identify and attack cancer cells — is a promising treatment for many types of cancer. But it’s expensive, associated with potential side effects, and doesn’t work for everyone.

Medical oncologists throughout the Mayo Clinic, together with research laboratories and the Biomarker Discovery Program of the Center for Individualized Medicine, have organized a three-site study to develop molecular indicators of benefit for immunotherapy. The Immunotherapy with Precision Biomarkers (IMPRESS) study seeks to discover and verify new tissue and blood based markers for response and monitoring in all cancers for which immunotherapy has shown clinical benefit to patients. Minetta Liu, M.D. of the Division of Medical Oncology and the Department of Laboratory Medicine and Pathology at Mayo Clinic’s campus in Rochester is leading the Mayo Clinic-sponsored study as principal investigator with support from the Center for Individualized Medicine and lead co-investigators Alan Bryce, M.D.; Haidong Dong, M.D., Ph.D.; Roxana Dronca, M.D.; Richard Joseph, M.D.; Aaron Mansfield, M.D.; Svetomir Markovic, M.D., Ph.D.; and George Vasmatzis, Ph.D.

Mayo Clinic investigators were among the first to discover that many cancers use immune cell blockers to stop or slow the action of the immune system and prevent it from keeping tumors in check. Blocking this interaction using checkpoint inhibitors has evolved into a highly effective therapy for patients diagnosed with a variety of tumors. The IMPRESS study focuses on developing biomarker models that will help physicians identify those patients who are most likely to benefit from immunotherapy and track whether it is working once prescribed. Oncologists would then have a means by which to individualize treatment plans for each patient, avoiding unnecessary therapies with the potential to cause unwanted side effects.

Dr. Minetta Liu

“Immunotherapy is rapidly being incorporated into treatment regimens for many types of cancer. We need to better understand who is best suited for these therapies, and we need reliable tools to monitor their progress,” says Dr. Liu.

Mayo Clinic has been a pioneer in the research and development of checkpoint-inhibitor drugs. In addition, work led by Dr. Dong has laid a solid foundation by assessing levels of specific markers in the peripheral blood of patients with melanoma and non-small cell lung cancer.

“Mayo is uniquely poised to accomplish this work. We will leverage our clinical and research expertise to evaluate novel assays optimized in our own laboratories and rapidly translate them into clinical practice. The key will be in developing models that incorporate multiple biomarkers relative to an individual’s response to immunotherapy. One test won’t be enough,” says Dr. Liu.

IMPRESS will enroll 200 patients over two years on all Mayo Clinic campuses. Participants will contribute mandatory blood and optional tissue samples. The immediate goal is to optimize two models: a blood/tissue based model and a blood based model to accommodate patients for whom there is no available tumor tissue for biomarker assessment.  The long-term goal is to maximize the likelihood of benefit and minimize the risk of side effects from immune-based treatments as part of the standard care.

Learn more about individualized medicine

Join us at Individualizing Medicine 2017: Advancing Care Through Genomics. The Mayo Clinic Center for Individualized Medicine, with support from the Jackson Family Foundation, is hosting the sixth annual genomics conference, October 9–10, in Rochester, Minnesota.

Join our community

Follow the latest news related to the conference on the Center for Individualized Medicine blogFacebookLinkedIn or Twitter at @MayoClinicCIM and use the hashtag #CIMCon17.

 

Tue, Feb 28 9:27am · 4 legal issues for providers of precision medicine

Advances in DNA testing have thrust providers of precision medicine into often exciting, but sometimes unchartered waters.  There’s the thrill of unlocking the mysteries of a rare illnesses through genetic testing, and the satisfaction of identifying new individualized patient therapies. And, with the promise of precision medicine comes the need to understand new legal and ethical concerns.

Legal issues in precision medicine is one of many topics Mayo Clinic’s Center for Individualized Medicine has explored at its Individualizing Medicine Conference. Here are takeaways on four legal issues providers of precision medicine might want to keep in mind:

1. Question of discrimination

One of the first questions patients often ask when considering genetic testing is, ‘will my DNA test results come back to haunt me when I go shopping for insurance?’

The answer lies within the Genetic Information Nondiscrimination Act (GINA). Passed in 2008, GINA bars health insurance companies from denying patients coverage or charging higher rates based on genetic findings. The law also makes it illegal for employers to discriminate against patients whose genetic test results show the potential to develop serious illnesses or rare diseases.

However, the law does not extend the same protections to life, disability or long-term care insurance. There is a potential they could see genetic test results that have been entered into a patient’s medical records.

2. Beware of waiving lab fees

Sharon Zehe, J.D.

Genetic testing often involves out-of-pocket costs for patients. Insurance sometimes covers the testing fees, but patients may be responsible for deductibles and copays. Other times, insurance doesn’t cover it at all, and patients must pay the entire bill. In the competitive world of health care, it can be tempting for providers to waive or discount out-of-pocket fees in order to attract patients.

But, it’s provider beware. Doing so may be a violation of the federal fraud and abuse regulations and state fraud laws. It may also put patients in a situation that violates member agreements relating to copays and deductibles. UnitedHealthcare recently sent a notice to laboratories notifying them claims would be denied if the lab engaged in a fee waiver program in violation of their agreement with members.

“Here at Mayo, we advise providers not to send tests to labs that offer fee waiver programs or cap a patient’s out of pocket costs below what they would otherwise be required to pay under their plans. We recognize that limiting the financial impact to a patient is a good thing, but unfortunately the legal risks are too significant. Some commercial payers have sued laboratories over fee waiver programs,” says Sharon Zehe, J.D., an attorney for Department of Laboratory Medicine and Pathology at Mayo Clinic and Mayo Medical Laboratories.

3. Addressing privacy

Providers often find themselves in a position of allaying patient concerns about privacy. All genetic test results are considered protected health information under HIPAA laws that guard privacy. That means the information cannot be shared with anyone (except in limited situations) without the consent of the patient.

Privacy issues also can put providers in an ethical dilemma, because the provider may have information from a patient that could help a family member. What if test results show a patient’s family members are at risk for a genetic disease, especially if the disease could be terminal without early intervention? Sometimes test results reveal a paternity issue. Should providers let patients know their father is not who they think? Unless a patient has signed a consent form to share results with family or friends, a provider cannot reveal these issues.

“It’s a sticky issue. For instance, in order to get an accurate picture of a child’s genetic makeup, we sometimes need testing from both parents. If we find we don’t have test results from the child’s true biological father, we cannot provide accurate results. It creates a dilemma of how to proceed,” says Zehe.

4. Understanding liability for genetic results that science does not yet understand

One of the key challenges with DNA testing is the fact that it returns a large amount of data on genetic variants that scientists and physicians do no yet understand. These are called variants of unknown significance. It raises the question: how do providers handle new discoveries of what these variants mean? Is there an obligation to go back and provide information about previously unknown variants? Can the provider be held liable for not contacting patients to let them know there is new information that could impact their health?

That is the crux of the issue in the Williams v. Quest /Athena lawsuit. In this case, a child’s genetic variants were not clearly understood at the time the test results came back. Later the variant was linked to a disease known as Dravet Syndrome. The child died without having the proper diagnosis. The mother sued, claiming Athena, the laboratory, should have known about the discoveries linked to Dravet Syndrome — discoveries that she claimed could have led to life saving treatments for her child.

“We are watching the legal rulings closely. It will be important to understand if the court holds it is a lab’s responsibility to contact providers or patients when information about undefined genetic variants becomes available, and if so, how far back should a laboratory go?” says Zehe.

Legal and ethical issues related to individualized patient care will undoubtedly be defined over time, whether that’s through court rulings or new laws. As precision medicine becomes routine, providers will be able to follow unfolding guidelines to better understand how to safely, effectively and legally act in their patients’ best interests.

Learn more about precision medicine

Get the latest news from the Center for Individualized Medicine. Visit our blogFacebookLinkedIn or Twitter at @MayoClinicCIM.

Mark your calendar and plan to attend Individualizing Medicine 2017 on Oct. 9-10.

Dec 6, 2016 · Pharmacogenomics: the Rx for success

pgx-photoPatients would save time, money and untold suffering if they proactively have DNA testing to match medications to their individual genetic profiles, writes Konstantinos Lazaridis, M.D., assistant director of Mayo Clinic Center for Individualized Medicine. It is likely not  uncommon for patients with a chronic medical condition to be on what he calls a “therapeutic odyssey” in which they try medication after medication for years without getting any relief .  Dr. Lazaridis’ editorial, Improving Therapeutic Odyssey: Preemptive Pharmacogenomics Utility in Patient Care  appears in the October 23, 2016 publication of The Journal of Clinical Pharmacology & Therapeutics.

“Therapeutic odyssey represents a protracted journey in a patient’s quest to find effective therapy for a chronic disease, often leading to unsuccessful treatments, frequent visits to healthcare providers, poly-pharmacy, herbal or alternative medicine-based therapy options and sometimes unwanted symptoms – or even adverse drug events” says Dr. Lazaridis.

Dr. Konstantinos Lazaridis

Dr. Konstantinos Lazaridis

The practice of using a person’s genetic profile to help prescribe the right treatment at the right dose is known as pharmacogenomics. Dr. Lazaridis says now is the time for health care providers to proactively recommend pharmacogenomics testing for all patients and enter the results in the electronic health record, noting:

  • The RIGHT Study, done at Mayo Clinic, found that 99 percent of all patients studied had a genetic variant that impacts the way the body processes medications.
  • Traditionally, dosages are prescribed based on clinical trials performed in the general population, which does not take into account an individual’s genetic variation.
  • A one-size-fits-all approach doesn’t take into account individual genetic variations that could cause medications not to work as intended or could cause painful side effects.
  • The Centers for Disease Control, in a study published in Journal of the American Medical Association (JAMA), reports one out of every 250 Americans visited the emergency room because of a harmful drug reaction in both 2013 and 2014.

“The emerging field of preemptive pharmacogenomics in clinical practice holds an enormous promise to improve the medical care of our patients,” says Dr. Lazaridis.

In today’s busy health care environment, Dr. Lazaridis notes, most providers don’t have time to ask patients how each medication is working for a specific chronic disease or whether they are having painful side effects. Consequently, they may not be getting the best treatment or may develop adverse drug reactions. For example, a 31-year-old woman’s medication to control obsessive-compulsive disorder didn’t seem to work. In addition, for 10 years, she suffered fatigue, panic attacks, palpitations, numbness and tingling sensations. The patient indicated it was ruining the quality of her life. Pharmacogenomics testing showed genetic variants were making current therapy ineffective and causing these painful side effects. As a result, her doctors prescribed new alternative therapies that are more compatible with her genetic profile, better control the disease symptoms and minimize side effects.

Dr. Lazaridis contends that pharmacogenomics testing must become a standard practice in order to improve safety and quality of care. He says doctors, pharmacists, nurses and educators must all work together to adopt practices that make it possible for all patients to benefit from the individual-tailored treatments that pharmacogenomics offers.

Learn more about precision medicine

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

You’ll want to save the date for next year’s Individualizing Medicine Conference. It is planned for Oct. 9-11, 2017.
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Nov 23, 2016 · Mayo Clinic investigators pinpoint cause, possible treatment for rare form of sarcoma

aaron-mansfield-14701782

Dr. Aaron Mansfield

More than 12,000 Americans will be diagnosed with some type of soft tissue sarcoma this year. Sarcoma can be very difficult to treat, particularly when it has metastasized and spread to other parts of the body.  Nearly 5,000 people will die from the disease this year, according to the American Cancer Society.  New research from Aaron Mansfield, M.D., an oncologist at Mayo Clinic, and George Vasmatzis, Ph.D., the co-director of the Biomarker Discovery Program of Mayo Clinic Center for Individualized Medicine, offers hope for patients with inflammatory myofibroblastic tumors, a rare form of sarcoma.

Read the news release on their research that identifies a cause and potential treatment for inflammatory myofibroblastic tumors.

Dr. George Vasmatzis

Dr. George Vasmatzis

Oct 11, 2016 · New biomarker discovery approaches to improve patient care

Biomarkers are an important measure of health and disease that can help doctors understand how to more effectively treat cancerous tumors. The topic of TIGER-Bio, a new approach to biomarker discovery, came into the spotlight in a workshop on the final morning of Individualizing Medicine 2016: Advancing Care through Genomics,

dr-mitesh-borad-mss_0001000344

Dr. Mitesh Borad

The session, TIGER-Bio: The Integrated Genome-analysis Enabled Response Biomarker Program, was one of four final workshops.

Many tumors have several mutations – and that may have physicians and investigators asking, which mutation is most critical? What’s the best course of treatment to attack the tumor? TIGER-Bio uses many different genetic platforms to discover markers of health and disease, and it allows for the rapid development of clinically-available tests.

Xenograph models for cancer research

Dr. Mark Truty

Dr. Mark Truty

Mitesh Borad, M.D. and Mark Truty, MD, MS spoke about xenograph (PDX) models for cancer research. PDX models generally maintain similar characteristics to a patient’s actual tumor. PDX models have been shown to be good indicators of how well a patient’s actual tumor will respond to treatment.

Three-dimensional models and liquid biopsies

Dr. Minetta Liu

Dr. Minetta Liu

Genomic research approaches

George Vasmatzis, Ph.D., spoke about research approaches deriving from mate pair sequencing, a type of whole-genome sequencing that can identify chromosomal rearrangements, as the basis to integrate genomic information. This approach might aid individualized patient evaluation and treatment. Ram Samudrala, Ph.D. spoke about Interactomics that include novel computational analysis tools for drug design.

Dr. George Vasmatzis

Dr. George Vasmatzis

Other workshops on the final morning of the conference included:

Epigenomics: Bridging the Translational Gap

Microbiome All You Need is Bugs

Pharmacogenomics (PGx): Applying PGx with the Clinical Pharmacogenomics Implementation Consortium (CPIC) and the Dutch Pharmacogenetic Work Group (DPWG)

The Mayo Clinic Center for Individualized Medicine hosted the conference with support from the Satter Foundation.

For a wrap up and summary of  news related to the Individualizing Medicine Conference, visit our blogFacebookLinkedIn or Twitter at @MayoClinicCIM and use the hashtag #CIMCon16.

You’ll want to save the date for next year’s Individualizing Medicine Conference. It will be held Oct. 9 – 11, 2017.

 

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