“In the early days of precision medicine research, it was about the promise of genomics. Now, it is a reality, and we need to focus on making genomics more available, more accessible and more valuable for our patients,” explains Keith Stuart, M.B., Ch.B. in his opening remarks at Individualizing Medicine 2016: Advancing Care Through Genomics, a conference sponsored by the Mayo Clinic Center for Individualized Medicine.

Dr. Stewart, the Carlson and Nelson director of the Center for Individualized Medicine; kicked off the conference by highlighting many things happening in genomic medicine in 2016:

• The launch of Precision Medicine Initiative (PMI) Cohort, including naming Mayo Clinic the home of the PMI biobank
• Breakthroughs in cancer immunotherapy
• The advancement of liquid biopsies- blood draws to detect cancer long before a tumor appears
• Integration of pharmacogenomics into practice, including 19 drug-gene rules for the electronic health record that will alert physicians when a drug might cause harmful side effects
• New developments in genetic engineering that hold great promise for diseases like childhood leukemia

Dr. Stewart boldly stated his belief that all patients should have their genome sequenced.

"Our vision at the Center for Individualized Medicine is to offer all Mayo patients genomics-informed therapy. Ultimately, we see value in having everyone’s genome sequenced, which will have the net effect of identifying undiagnosed disease, offering choice in preventing hereditary conditions, and improving diagnosis accuracy and drug choice ─ all of which will result in better patient care and lower health care costs," says Dr. Stewart.

Shaping the future of precision oncology and the role of the patient

Kathy Giusti, M.B.A., a multiple myeloma patient and co-founder of Multiple Myeloma Research Foundation (MMRF), continued the discussion of precision medicine by sharing her compelling personal story.

Diagnosed in 1996 with multiple myeloma and given three years to live, she refused to accept a grim prognosis.  Giusti chose to take action, and co-founded MMRF with her sister, Karen Andrews, to advocate for new cancer treatments. Their efforts have led to Food and Drug Administration (FDA) approval for 10 drugs to treat the disease. She has survived thanks in part to those treatments.

Their secret to success? Innovation and collaboration.

“Innovation happens at intersections – the convergence of business, academic research and patients to bring new treatments and hope to cancer patients,” explains Giusti.

The power of collaboration in using precision medicine to diagnose rare diseases

Collaboration is a key factor in using precision medicine to diagnose and treat rare diseases, according to  Euan Ashley, F.R.C.P., D. Phil., a cardiologist and associate professor of medicine and genetics at Stanford University.

“For patients with an undiagnosed disease, it can be very frustrating,” says Dr. Ashley. “They have the symptoms, but don’t know the name or course of their condition.”

In his presentation “Towards Precision Medicine,” Dr. Ashley shared how collaboration among specialists, along with geneticists and genetic counselors, helped to work through the diagnosis process for patients with rare diseases. With the help of genomics, they’ve been able to help patients find a diagnosis in up to 30 percent of all cases.

He also explained that with improved technology, we might be able to find more answers for patients with undiagnosed conditions.

Improving outcomes through clinical implementation of pharmacogenetics

“Pharmacogenomics, the way our genetics impacts our response to medications, has the potential to provide the greatest impact for precision medicine because studies show nearly all of us has a genetic variant that impacts how we process medications” explains Julie Johnson, Pharm. D.

Dr. Johnson, dean of the University of Florida College of Pharmacy and distinguished professor of Pharmacy and Medicine, explained that many drugs commonly used can cause adverse reactions if given to the wrong patient.

For example, Clopidogrel, a drug that is given to patients who have undergone angioplasty, can produce serious life threatening reactions if given to a patient with a genetic variant that causes a drug-gene reaction. These patients are at risk for developing a major cardiac event such as heart attack, stroke or death.

Dr. Johnson and colleagues have already piloted studies through the Implementing Genomics in Practice (IGNITE) network to add pharmacogenomics test results and guidelines into the patient’s electronic medical records to help providers prescribe safer drugs.

National Precision Medicine Initiative update

Aiming to enroll 1 million or more people in a research cohort by 2020, the PMI Cohort will collect a wide range of health, socioeconomic and lifestyle information to help researchers understand factors that influence health and disease. The wide scope of the PMI cohort is an unprecedented undertaking.

Kathy Hudson, Ph.D., deputy director for Science, Outreach and Policy at the National Institutes of Health (NIH) and head of the PMI Cohort, outlined the scientific opportunities that the PMI Cohort will provide:

• Develop ways to quantify the risk for a range of diseases
• Use pharmacogenomics to understand how genetic factors influence the way people respond to medications
• Discover biological markers that signal either increased or decreased risk for disease
• Develop solutions to health disparities and minority health issues
• Use mobile health devices to determine how lifestyle, environmental factors and health data impact health
• Empower participants with information about their own health
• Create a platform to conduct trials of targeted therapies

How genomic medicine is ready for clinical care

DNA sequencing can unravel the mystery behind many complex health problems according to Dr. Teri Manolio.

Dr. Manolio, director, Division of Genomic Medicine of the National Human Genome Research Institute at NIH, cites an example of twins who suffered from years of health challenges and a wrong diagnosis of cerebral palsy.

In search of a better explanation for her children’s condition, the twins’ mother insisted that they undergo genomic testing. DNA sequencing led to a more definitive diagnosis and better treatment.

In her presentation, Dr. Manolio explained how genomics can be moved into clinical practice:

• Condcut discovery research to assess how genetics impact disease
• Validate that research clinically to see how genomics impact a patient’s outcomes
• Implement those findings into clinical care by educating providers how to apply genomics to guide diagnosis, treatment and prevention of disease

The use of genetic risk scores in treating age-related macular degeneration

Jonathan Haines, Ph.D., a renowned genetic epidemiologist at Case Western Reserve University, shifted the conference conversation to focus on using genomics to treat more common diseases.

Dr. Haines discussed the use of genetic risk scores to inform treatments for age-related macular degeneration, the most common cause for loss of sight in people over 80 years of age.

Because there are a number of genetic variants associated with macular degeneration, many genetic risk scores have been calculated and have been accurate in identifying these variants. However, these scores are not as effective at predicting which patients will develop the disease and are not a useful tool to guide clinical care.

The conference continues - more presentations and break out sessions tomorrow

• For a complete schedule and list of speakers, visit the conference website.
• You may also learn more about the conference on the video blog series, “Story by Story.”
• Follow the latest news related to the conference on the Center for Individualized Medicine blog, Facebook, LinkedIn or Twitter at @MayoClinicCIM and use the hashtag #CIMCon16.

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

Tags: #CIMCon16, #Dr. Jonathan Haines, #Dr. Teri Manolio, #Precision Medicine Initiative Cohort Program, Cathy Wurzer, center for individualized medicine, Dr. Euan Ashley, Dr. Julie Johnson, Dr. Kathy Hudson, Dr. Keith Stewart, Kathy Giusti, mayo clinic, Precision Medicine, Uncategorized