Posts (10)

6 days ago · 4 key things to know about the possibilities, pitfalls of gene editing

ROCHESTER, Minn. — Gene editing has captivated scientists and medical providers with tantalizing visions of wiping out debilitating inherited diseases. Could conditions like Huntington’s disease, for example, be cured by using a tool that acts as a “molecular scissors” to remove and replace disease-causing DNA? Or, would gene editing tempt some to engineer designer babies with genes encoded for superior intelligence, beauty or athletic abilities?

Gene editing technology is rapidly advancing, putting tools at the forefront of medical research. One of the best known gene editing tools is CRISPR-Cas9, which stands for clustered regularly interspaced short palindromic repeats and CRISPR-associated protein. CRISPR-Cas9 has the potential to make gene editing faster, cheaper and more accurate, which could speed basic research studies and findings.

Megan Allyse, Ph.D.

Although Mayo Clinic does not use gene editing as part of any treatment, it is studying the implications. Megan Allyse, Ph.D., a bioethicist who works with the Bioethics Program of the Mayo Clinic Center for Individualized Medicine and the Department of Obstetrics and Gynecology, warns that, along with improvements in understanding of the genome, gene editing also poses ethical concerns.

“It’s important to have public conversations to understand the limitations of this new technology. What are best practices (for gene editing)? What are the implications? What are the misuses of technologies like this? How can we harness it to benefit patients? How do we prevent harming populations or increasing health disparities or side effects that are not acceptable?” asks Dr. Allyse.

Dr. Allyse shares four key factors on why gene editing is still years away from medical practice:

  1. There’s a lot we don’t understand yet.
    “CRISPR-Cas9 is a tool that works very well,” says Dr. Allyse. “The problem is with us and how we use the tool. Technology can be used in many ways: It can be harmful or beneficial. We know so little about the human genome and how it works. How can you edit what you don’t know?”One concern is that gene editing won’t work the way we want it to. Dr. Allyse points to a study that found that embryos rejected attempts to replace a sequence of genetic code that coded for disease with healthy DNA. Instead, the embryos reverted to inherited DNA from parental genomes to replace what was removed.Another concern is that editing one portion of a gene could lead to damage or unwanted side effects in another part of that gene.“For example, some of the genes that have been associated with intelligence have also been associated with psychopathy,” says Dr. Allyse. “Do we want to alter genetic intelligence only to risk creating psychotic problems in a different part of the genome? Is it worth the risk?” asks Dr. Allyse.
  2. Existing technologies may accomplish the same thing.
    Researchers are studying whether gene editing could be used to remove defects in embryos to prevent genetically inherited diseases. Edits to the germline (inherited) portion of the genome would then affect all future descendants of that embryo.However, Dr. Allyse points out that we don’t have to turn to gene editing to achieve that goal. Parents can have carrier screening to learn whether they have a disease-causing variant that could be passed to children. And, in vitro DNA tests can identify embryos with known genetic conditions. Parents have the option of using in vitro fertilization to implant only healthy embryos.“For the most part, we already have the technology to do what gene editing seeks to accomplish,” says Dr. Allyse. “We have a proven track record with existing technology. Why would we need to turn to the uncertainty of gene editing to do the same thing?”
  3. Genetics is just one factor to consider.
    Research has shown that environment, personal habits and how someone is raised tend to play a greater role than genetics in overall health and disease.“People tend to overestimate that genetics is the be-all, end-all answer to everything,” says Dr. Allyse. “With the exception of certain, clearly genetic conditions, research has shown that access to education, nutrition and immunizations may have a greater influence on a child’s health and abilities than genetics.”
  4. Medical practice isn’t ready for it.
    Dr. Allyse says the closest clinical application of gene editing may be its use in gene therapy. Gene therapy is used to replace genetic deficiencies, such as when the body’s enzymes or amino acids are not functioning properly. Gene editing may make gene therapy more effective by speeding up research and delivering replacement therapy to more precise locations within the genome.Despite that, Dr. Allyse predicts that gene editing is still many years from becoming part of the mainstream medical practice, if it gets there at all.“We just don’t have the knowledge of how it will impact our overall health. We don’t have the mechanisms to understand. Medical practice and society are not yet ready for gene editing to become a part of routine clinical care,” says Dr. Allyse.

Aside from gene editing, researchers and physician-scientists at Mayo Clinic Center for Individualized Medicine continue to seek ways to apply the latest genomic, molecular and clinical science to personalized care for every individual, so patients receive the exact care they need —when they need it —and to address unmet needs of the patient.

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Thu, Nov 16 8:00am · A Wish Realized: Genetic testing solves a family medical mystery

Stacey, Brandon and Jordyn LaMont

By Susan Buckles and Colin Fly

Amid baby babble, Jordyn LaMont’s eyes grow wide with excitement as she spots her father, Brandon, bursts into a wide smile and playfully raises her toes to his face.

“She’s full of personality,” says her mother, Stacey. “She’s proof that miracles do happen.”

Jordyn was born in January 2017, blue and gasping for air — a hauntingly familiar scene to Stacey, whose two-day-old daughter, Mya, died from pulmonary hypertension in 2008.

“My doctors thought then it was caused by low amniotic fluid.” she says. “They monitored this pregnancy and thought everything would be OK. In hind sight, we were watching the wrong thing.”

Roughly 12 hours after birth, Jordyn was rushed by air ambulance to Mayo Clinic.

Mayo’s team of pediatricians, cardiologists, neonatologists, a medical geneticist and the director of the clinical genetic sequencing lab worked feverishly and collaboratively to find a cause and treatment.

Without philanthropic support that provides a safety net of funds for patients in need, the Mayo Clinic team would not have been able to start sequencing so quickly and instead would have needed to wait for insurance authorization first – taking precious time that could have led to more invasive procedures to ensure Jordyn’s health.

Jordyn LaMont

Instead, with testing greenlighted, genetic results that can take months were ready in just nine days. And Mayo Clinic experts in the Center for Individualized Medicine found an answer: a genetic defect that is linked to both pulmonary hypertension and a condition called small patella syndrome – a rare disorder that affects the knees.

Suddenly, the pieces of the puzzle came together like a mosaic. DNA results shed new light on two very different health issues in LaMont’s family: a history of knee and heart problems within extended relatives.

“This gene mutation was really rare, and for that team to have found it, they have found literally a life time full of answers for my family,” says Stacey. “I waited nine years, not knowing the real cause of my first baby’s health problems. It’s amazing to finally have answers. I wish genetic testing would have been available to us in 2008.”

Brendan Lanpher, M.D.

This discovery pointed physicians to medication compatible with Jordyn’s genetic makeup. And, they no longer had to put her through unnecessary tests for a cause.

“The results simplified and streamlined our focus on the right treatment,” says Brendan Lanpher, M.D., a medical geneticist. “The tests results had a very meaningful impact for the baby and her extended family.

“It was very cool.”

This article originally appeared in Mayo Clinic Magazine  Fall 2017 edition.

A shorter version appeared in the Mayo Clinic Center for Individualize Medicine: Advancing care through genomics.

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See highlights from our recent Individualizing Medicine Conference 2017: Advancing Care Through Genomics:

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Thu, Nov 2 2:06pm · Mayo Clinic researchers find genetic pathways to individualized treatment for advanced prostate cancer

prostate cancer surgery in the operating room

Manish Kohli, M.D.

Researchers at Mayo Clinic Center for Individualized Medicine have uncovered genetic clues to why tumors resist a specific therapy used for treating advanced prostate cancer. This discovery can guide health care providers to individualized treatments for castration-resistant prostate cancer, a deadly disease that does not respond to standard hormone therapy. Several U.S. Food and Drug Administration approved therapies are available for castration-resistant prostate cancer, but the treatments affect each patient differently.


New research from Manish Kohli, M.D., principal investigator, and Liewei Wang, M.D., Ph.D., laboratory co-principal investigator, has found genetic markers that may predict resistance to the drug abiraterone acetate/prednisone, a treatment aimed at stopping progression of advanced, metastasized prostate cancer. Understanding the genetic markers of tumors and their drug resistance enables health care providers to match a therapy that is likely to succeed on the first try.


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


The research of Dr. Kohli and his Mayo colleagues, “A Prospective Genome-Wide Study of Prostate Cancer Metastases Reveals Association of Wnt Pathway Activation and Increased Cell Cycle Proliferation with Primary Resistance to Abiraterone Acetate-Prednisone,” is published online in the Oct. 23 edition of Annals of Oncology.

“Prostate cancer is different in every patient.” says Dr. Kohli. “In this groundbreaking study, we explored thousands of genetic characteristics in each tumor, and identified specific genes for example a set of genes called cell cycle proliferation genes that now allow us to take an individualized approach to treatment with this drug. Our observations enhance the development of predictive biomarker-based strategies for patients with advanced castration-resistant prostate cancer.”

The research comes from a study at Mayo Clinic between 2013 and 2015. Whole-exome DNA sequencing, which looks at all the disease-causing genes, and RNA sequencing, which looks deeply into each individual gene, were performed on metastasized tumors of 92 study participants before treatment. Those same tests were performed again after 12 weeks. Investigators in Dr. Wang’s lab also attempted to grow the patient’s cancer in mice from a piece of the patient’s cancer tissue. Experimental drugs were then tested on cancers that grew in mice.

“The discovery of these genetic signals after such an elaborate and extensive evaluation of the patients’ genetic makeup has not been previously performed,” says Dr. Kohli.” Such knowledge can empower physicians to better manage patients with advanced-stage, castration-resistant prostate cancer.”

Prostate cancer affects approximately 1 in 7 men in the U.S. ─ 10 to 20 percent of whom will develop castration-resistant prostate cancer. The average life expectancy at that advanced stage is less than 19 months.

A. Keith Stewart, M.B., Ch.B.


“This research is an example of how Mayo Clinic and the Center for Individualized Medicine are transforming patient care through advanced genetic tests to address the unmet needs of our patients with advanced prostate cancer. This discovery is an additional way to customize treatment plans based on a patient’s unique genetic makeup,” says Keith Stewart, M.B., Ch.B., Carlson and Nelson Endowed Director of the Mayo Clinic Center for Individualized Medicine and the Vasek and Anna Maria

Polak Professor of Cancer Research Division of Hematology-Oncology, Mayo Clinic.

Mayo Clinic researchers are recommending further study to determine which combination of drugs will best overcome drug resistance in patients with these genetic markers.

This study was funded in part by the Mayo Clinic Center for Individualized Medicine; Minnesota Partnership for Biotechnology and Medical Genomics; U.S. Department of Defense; National Institutes of Health ─ National Cancer Institute; Prostate Cancer Foundation; Richard M. Schulze Family Foundation; and Mayo Clinic philanthropic donors, A.T. Suharya and Ghan D.H., and Mr. and Mrs. Joseph and Gail Gassner.

Additional authors on the research team ─ all from Mayo Clinic, unless noted ─ are:


About Center for Individualized Medicine
The Center for Individualized Medicine discovers and integrates the latest in genomic, molecular and clinical sciences into personalized care for each Mayo Clinic patient. For more information, visit

About Mayo Clinic
Mayo Clinic is a nonprofit organization committed to clinical practice, education and research, providing expert, comprehensive care to everyone who needs healing. For more information, visit or


Tue, Oct 17 9:44am · Karter’s journey of hope

Karter Malcomson’s cherubic face, inquisitive eyes and wide smile are magnetic. Behind them is a two- year-old boy with a rare disease that’s generated more medical mysteries in his short life than many face in an entire lifetime.  His circuitous journey to a diagnosis took his case before the Functional Genomics Team– the A team of exome experts at Center for Individualized Medicine – that works tirelessly to solve rare and undiagnosed diseases.  It was a path that began even before he was born.


Karter Malcomson

“When I got my first ultrasound, we noticed he was not growing as he should be. He had extra digits. When they tell you this, you never know what is going to happen,” said Kerrie Lemois, Karter’s mother.

Reviewing the prenatal records, physician from the Department of Clinical Genomics suspected a genetic link to Karter’s disorder. Upon his birth and evaluation, they quickly referred him for genetic testing.



Pavel Pichurin, M.D.

“Based on his medical history and deformities at birth, we immediately suspected the diagnosis was within a particular group of disorders. We knew he had several birth defects, but suspected there may have been other organ systems involved. Our studies revealed additional findings associated with a suspected group of genetic disorders, confirming that we were on the right path. To confirm the diagnosis, we needed genetic testing,” said Pavel Pichurin, M.D., a medical geneticist.


There are different approaches for genetic testing, and the choice of test can be driven by multiple factors, In this case, Dr. Pichurin ordered whole exome testing – a test of over 20,000 genes that today gives physicians and scientists the most information about health and disease. This testing identified genetic changes in both copies of a little-known gene.


“When we got this information, we were hopeful that the results might hold the clues to Karter’s disorder,” said Nicole Boczek, Ph.D., a molecular geneticist. “Right about the time we received the results, a paper had been published that described three cases of genetic variants in the same gene as Karter’s. If Karter had this disorder, he was only the fourth case in the world described in scientific literature.”


In order to prove that the identified DNA changes were related to his disorder, the Functional Genomics team applied an additional technology, RNA sequencing. RNA sequencing allowed the team to see if there were abnormalities in the messages that create protein in the human body. This strategy provided evidence that the identified DNA changes were causing genetic abnormalities, matching Karter to the cases in the research paper. That allowed for a diagnosis: Oral Digital Facial Syndrome Type 14. With a diagnosis, scientists and physicians are able to build information about what to expect in the future. They can put families facing this rare disease in touch with one another as a support group that can learn from each other.

Karter with his mother, Kerrie, and father, Zane


Watch a video on Karter’s story

Read more about Karter and the Functional Genomic Team on page 46 of  Mayo Clinic Magazine





Join the conversation

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

See highlights from our recent Individualizing Medicine Conference 2017: Advancing Care Through Genomics:


Save the date for next year’s Individualizing Medicine Conference. It will be held Sept. 11-12, 2018.


Thu, Aug 10 9:22am · 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 3,000 neurofibromatosis patients from around the world treated at Mayo, which 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.

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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.

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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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