“Genomic medicine is already part of mainstream medical care,” says  A. Keith Stewart, M.B., Ch.B., in his opening remarks at the sixth Individualizing Medicine 2017: Advancing Care Through Genomics, a conference hosted 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 yesterday by sharing with more than 550 attendees how genomic medicine is already part of patient care in four key areas:

#1: Cancer care

• Advanced genomic tests for more precise cancer diagnosis and treatment
  Stewart highlighted a new clinical test developed at Mayo Clinic using mate pair sequencing, which identifies genetic defects and chromosomal breaks linked to cancerous tumors. This information can pinpoint exact disease-causing genes, opening up new possibilities of individualized therapies targeted to precise genetic mutations. The test is already making a difference for patients, revealing genetic mutations that offer patients new options with targeted treatments.
• Blood tests to find cancer and its recurrence at the earliest possible stage
  Cell-free DNA (cfDNA) tests that identify pieces of DNA shed into the bloodstream by cancerous tumors are offering the hope of tracking cancer as early as possible ─ when it is most treatable. Mayo Clinic researchers and clinicians are working collaboratively to develop blood tests ranging from those that detect single changes (mutations) in single genes to those that look for thousands of mutations in hundreds of genes. The first test launched in the clinical lab detects a specific change in the BRAFgene, primarily linked to melanoma. The cfDNA BRAF test offers a convenient, less costly and potentially more accurate picture of cancer activity that can help identify appropriate targeted treatments for advanced disease. Follow-up clinical tests in colorectal cancer, lung cancer and breast cancer will be available shortly.

#2: Diagnosis of rare and unexplained disorders

DNAs sequencing is being used more commonly in clinical care to solve cases of unexplained medical conditions. Mayo Clinic’s rare and undiagnosed disease program has seen a 30-fold increase in caseload from 2012 to 2016 — and has surpassed evaluating its 1,500th patient. Genomic testing has revealed a diagnosis in approximately 30 percent of patients, all who had been unable to find a diagnosis with traditional clinical testing. Mayo’s Unsolved Case Team is deploying innovative research strategies to find answers for other elusive diagnoses.

Genomic sequencing has expanded beyond finding a diagnosis for rare diseases, to include conditions for which there is no definitive cause or cure like chronic liver disease and inflammatory bowel disease. With specialized genomics clinics for many gastrointestinal diseases, multidisciplinary teams of clinicians and researchers are using genetic testing to find a cause and then develop personalized care plans for many conditions.

#3: Drug-gene testing for more precise medications

With more than 1.5 million adverse drug events each year as a result of medications, Dr. Stewart emphasized the importance of selecting the right medication for each patient to maximize the treatment benefit and avoid harmful side effects. Pharmacogenomics uses DNA tests to help clinicians select medications that will reduce the risk of adverse side effects and increase efficacy for patients—based on their genetic makeup. Over the past year, Mayo Clinic has led efforts to apply pharmacogenomics testing proactively to improve patient care broadly and in many subspecialties, such as pediatric gastrointestinal disorders, liver disease and neurosurgery.

Illustrating the benefit of pharmacogenomics testing, Dr. Stewart pointed to his own experience having his genome sequenced which revealed new information about his sensitivity to certain medications.

#4: Predicting disease

As genomic testing has become faster and cheaper, it is becoming more accessible to healthy people who want to better understand their own health and risk of disease. Whole-genome sequencing looks at a patient’s entire genetic makeup for information on inherited conditions, genetic variants that drive cancer, and links to disease.

Dr. Stewart emphasized how genomic sequencing could help physicians be proactive in screening for and treating many conditions. For example, many inherited cancers are missed with traditional clinical testing. Preemptive genetic testing could identify whether a patient is at risk for an inherited cancer, allowing for more frequent cancer screening and earlier treatment, when it can be most effective.

Geisinger’s MyCode Community Health Initiative

David Ledbetter, Ph.D., executive vice president and chief scientific officer, Geisinger Health System, echoed Dr. Stewart’s emphasis on the value of preemptive genomic sequencing. Dr. Ledbetter leads Geisinger’s MyCode Community Health Initiative, an innovative research effort that has already revealed lifesaving information for participants. The project will leverage twenty years of electronic health information with DNA sequencing data for each participant to find the best way to deliver cost-effective, precision medicine healthcare within a health system setting. More than 160,000 participants are already enrolled, more than half way to program’s goal of 250,000 participants.

Dr. Ledbetter explained that MyCode Health initiative found the following to be the most common conditions:

• Familial hypocholesteremia (inherited high cholesterol)
• Inherited breast cancer
• Inherited ovarian cancer
• Cardiovascular disease

According to Dr. Ledbetter, the program has already saved the life of a 57 year old grandmother and MyCode participant.

Genomic testing showed that she had a BRCA1 genetic mutation, increasing her risk for developing breast and ovarian cancer. While her mammogram was negative, she still elected to proactively have her ovaries removed to ensure that she would stay healthy to raise her grandchildren. During surgery, a golf ball sized ovarian cancer tumor was discovered and removed. Because the cancer was caught early, Barnes’ cancer can be successfully treated.

As Dr. Ledbetter pointed out, since Barnes’ did not have a family history of breast or ovarian cancer, she never would have suspected that she was at risk for either type of cancer. That’s why this is a perfect example of how pre-emptive genomic testing can improve care.

The conference continues - more presentations and breakout sessions today

• See the schedule.
• Review the list of speakers.
• Learn about pre-conference and post-conference sessions.
• Follow the latest news related to the conference on the Center for Individualized Medicine blog, Facebook, LinkedIn or Twitter at @MayoClinicCIM. Use hashtag #CIMCon17.

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

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

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