April 16, 2018

15 ways genomics is impacting our lives: Genomic literacy and pharmacogenomics

By Susan Buckles

To apply important genomic research at the point of care, medical providers and patients must first understand it. That fact spotlights the need for “Genomics 101” type of education to help the medical community keep up with newest discoveries. Genomic literacy – explaining scientific findings in understandable terms – is one goal of the ‘15 for 15’ celebration. For 15 days leading up to National DNA Day on April 25, the National Human Genome Research Institute (NHGRI) is exploring ways to raise awareness about how genomics has changed our lives since the completion of the Human Genome project 15 years ago.

Declaring the need for education urgent, NHGRI is spearheading the Genomic Literacy, Education, and Engagement (GLEE) Initiative. GLEE is envisioned as a public-private partnership that is coordinating and expanding ongoing genomics education, training, and outreach efforts in the U.S. in K-16 students and educators, public and community audiences and health care professionals.

Mayo Clinic Center for Individualized Medicine has put its Education program at the forefront of efforts to translate genomic research into clinical care. It is lending support to help develop the GLEE initiative.

Timothy Curry, M.D., Ph.D.

“Providing education is vital to advancing the understanding and practice of genomics,” says Timothy Curry, M.D., Ph.D.  As part of the groundwork for the GLEE initiative, three different stakeholder work groups are advancing basic genomic literacy: Kindergarten through college education; physicians and medical providers; and patients and the general public. Each group has identified significant knowledge gaps.

In the K-16 group:

  • Half of teachers from kindergarten through college do not teach a unit on genomics, because they are not required to.
  • Many teachers say they don’t have access to professional development to learn about teaching genomics; nor do they have the educational resources.

In the physicians and medical providers group:

  • Only a quarter of all physicians surveyed said they feel comfortable integrating genomics into their daily patient care practice.
  • Seventy-five percent have interest in pursuing more instruction on genetics and genomics.

In the patients and the general public group, there is growing interest in how DNA testing:

  • Can help diagnose and treat disease.
  • Can help prevent disease.
  • Can help them understand the role of genetics in disease versus environment and lifestyle.
  • Can help them connect with their ancestry.

The GLEE Initiative is in the strategic visioning stage.


Richard Weinshilboum, M.D.

Pharmacogenomics is another area that education is at the intersection of groundbreaking genomic research and application to clinical care. Pharmacogenomics is the study of how your genes affect the way your body processes and responds to medications. Equipped with this knowledge, your health care provider may prescribe medications that are most compatible with your genetic makeup, increasing the chance the drug will work as intended. That could also decrease the possibility of harmful or potentially life threatening drug side effects.

Mayo Clinic is a leader in advancing pharmacogenomics from the research lab to the patient’s bedside. In a research milestone nearly a half century in the making, Mayo is now entering pharmacogenomics drug-gene test results pre-emptively in the electronic health records of 10,000 Mayo Clinic patients who participated in the RIGHT 10K study. The RIGHT 10K study is designed to use DNA testing to try to inform selection of the right drug at the right dose based on a patient’s genetic makeup.

“My hope is that within the next five years, genomic test results for the majority of our patients will be part of their electronic health record, allowing health care providers to proactively use this information to individualize drug choice and dose,” says Richard Weinshilboum, M.D., co-director of the Mayo Clinic Center for Individualized Medicine Pharmacogenomics Program.

Pharmacogenomics is one of the topics featured in the ‘15 for 15’ recognition of ways DNA sequencing is changing medical practice.

What this means to patients

Genetic sequencing that is becoming dramatically faster to perform, cheaper and more widely accessible has put pharmacogenomics testing within reach of more patients and health care providers. Today your health care provider has a variety of different pharmacogenomics tests available that cover a different number of genes. Your provider may use these results to help make more informed decisions about your medications or adjust the dose. Pre-emptive testing may:

  • Help identify the right drug for you.
  • Alert health care providers to drugs that could cause harmful side effects.
  • Reduce the chances of having an adverse drug reaction.
  • Inform family members of possible pharmacogenomic variants that run in the family.

However, pharmacogenomics is not the magic bullet solution to all medication issues.

“It is important to note that pharmacogenomic results do not show the effectiveness of all drugs. They also do not address all drug side effects or all allergies to drugs,” says Dr. Curry. “Drug-gene test results are just one factor for health care providers to consider when prescribing therapies.”

Pharmacogenomics testing for the clinical practice is available to all patients at Mayo Clinic. Pharmacogenomics testing uses DNA from blood, saliva or cheek swab collection. Insurance may cover the cost depending on the policy and on the reason for testing.

Individualizing Medicine Conference

The Individualizing Medicine Conference is a cornerstone of CIM’s education program. This yearly event brings together experts in precision medicine for large group presentations, breakout sessions, real life case studies and a poster session. The conference educates medical providers, health care teams and scientists about the latest patient care applications of genomic medicine.

Join the conversation

For more information on the Mayo Clinic Center for Individualized Medicine, and how it is transforming care through the discovery, translation and application of precision medicine research, visit our blogFacebookLinkedIn or Twitter at @MayoClinicCIM.

Save the date for this year’s Individualizing Medicine Conference. It will be held Sept. 12-13, 2018 in Rochester, Minnesota.


Tags: 15for15, DNA Day 18, DNA Sequencing, Dr. Richard Weinshilboum, Dr. Timothy Curry, Genetic Testing, Genetics, Genomic literacy, genomics, GLEE initiative, Human Genome Project, individualized medicine, mayo clinic, Mayo Clinic Center for Individualized Medicine, pharmacogenomics, Precision Medicine, Precision Medicine

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