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Here are some of the latest precision medicine approaches being used by managed care organizations, health systems and academic medical centers across the U.S.
Precision medicine's aim is to develop more accurate diagnostic tools and therapies, predicting what approaches will work best for the individual instead of using a one-size-fits-all approach. It is no longer a question of whether it can be done but, instead, how to do it. Here are some of the latest approaches by managed care organizations, health systems and academic medical centers across the U.S.
In February, not-for-profit Inova Health System in northern Virginia began offering MediMap, a pharmacogenomic test, to all babies born in Inova Fairfax Women's Hospital as part of its standard package of care at no additional cost. By August, nearly 2,000 newborns had been tested (stretching back to the pilot program's launch in December 2015).
A cheek swab is used to get a DNA sample from the baby's mouth after delivery. The sample is tested to explore genetic changes that influence the body's response to commonly prescribed pain, cardiovascular, immunologic, psychotropic and anti-cancer medications. By doing this, Inova says the most effective medications may be found upfront without as much trial and error.
Roughly 70% to 80% of parents approached about MediMap opt to test their newborns, says Ben Solomon, MD, chief of the division of medical genomics at Inova Translational Medicine Institute.
Of Inova's newborn testing to date, “more than 80% of reports will have something you'd prescribe differently” if certain medical conditions were to arise, Solomon says. Specifically, Inova looks out for genetic sensitivity to codeine or Phenytoin, an anti-seizure drug, “and we do have a number of those we called out,” in keeping with national averages on drug sensitivity, he says.
Inova began offering pharmacogenomic testing to specific populations of adults in early 2015, Solomon says. But he says MediMap newborn testing “is leading to lots of offshoots,” such as testing for optimal pain medications for adults; and Inova also is working on testing to find the most effective medications for individuals getting transplants.
A seemingly healthy woman in her mid-50s decided to participate in central-Pennsylvania-based Geisinger Health System's program that searches for pathogenic changes to participants' genes.
She is among 114,000-plus people consenting thus far to participate in Geisinger's MyCode Community Health initiative (free of charge), a systemwide biobank that stores blood and other samples for health research, including genome sequencing. Its initial focus is on hereditary breast cancer, colon cancer, hereditary high cholesterol and other heart conditions. By August, Geisinger had collected 82,000-plus MyCode samples (90,000-plus if smaller participating biobanks are included).
Despite having no first-degree relatives with a history of breast cancer, the woman was found to have a BRCA1 mutation that increased her risk of ovarian cancer. She opted for surgery this past summer and a golf-ball-sized tumor was discovered when she had her fallopian tubes and ovaries removed-caught early, thus increasing her odds of survival.
“We're definitely seeing a lot of individuals who wouldn't be picked up on routine screening,” because they wouldn't think they were at risk, says Andy Faucett, director of policy and education for Geisinger's Office of the Chief Scientific Officer.
By August, Geisinger had returned results to 148 individuals finding 27 clinically actionable genetic conditions, Faucett says. Two women were found to have early-stage breast cancer that “probably would not have been picked up for awhile,” he says, while another woman was found to have hereditary high-cholesterol and ended up getting a triple bypass.
Two years ago, the University of California, San Francisco (UCSF), began leading a public-private partnership aimed at collecting and analyzing data on thousands of patients with traumatic brain injuries (TBIs). Its aim: to improve diagnoses and patient-specific treatments, and to create better clinical trials, for TBI patients.
Researchers have “thoroughly analyzed” 600-plus patients in a pilot study and, as of August, had collected data on more than 1,600 of a targeted 3,000 patients for another study, says Geoffrey Manley, MD, PhD, professor and vice chairman of neurological surgery at UCSF.
The upshot? UCSF has begun to incorporate better imaging and a more comprehensive, detailed assessment of patients in its head-injury clinic, Manley says. It is an evolving process and, as more data are analyzed, more changes will be incorporated gradually into clinical practice, he says.
Manley describes TBI as a “poster child” for precision medicine. TBI patients, unlike people with cancer and other conditions, face “crude stratification” based on whether they have mild, moderate, or severe symptoms, he says, making it tougher to find effective treatments and drug therapies.
“It's a little daunting how far behind we are from cancer and heart disease,” Manley says, “but precision medicine gives us a path forward.” TBI affects at least 2.5 million Americans annually, according to the CDC.
UCSF and partnering institutions are analyzing data to better understand how MRI may be used to identify TBI patients, and working with FDA to find biomarkers, using MRI, that will help better stratify patients for clinical trials, Manley says. A patient with a concussion may have a normal CT scan, but problems may appear using a highly sensitive 3 Tesla (3T) MRI, he explains. “We're now learning we probably need to be ordering more MRI scans than we used to,” to find micro-hemorrhages and the like, he says.
Clinicians must follow proper imaging sequences identified by researchers to make comprehensive TBI evaluations, he adds, and yet these sequences aren't necessarily part of routine MRIs at most hospitals.
UCSF and partners also are working on TBI screening that covers issues such as memory, learning and psychological health. Manley and several colleagues recently reported that nearly 30% of people with TBI in a civilian emergency department ended up being disabled by post-traumatic stress syndrome (PTSD). Clinicians typically aren't looking for PTSD, he says, but if PTSD is treated, TBI patients' level of disability can be reduced.
More than 6,000 cancer patients, including 1,000 lung cancer patients, have been tested since genomic cancer diagnostics were introduced at the University of Pennsylvania Health System/Penn Medicine in February 2013. Philadelphia-based Penn aims to complete genetic panels on all 8,000-some cancer patients in its system within the next two years or so, says David Roth, MD, PhD, director of the Penn Center for Precision Medicine.
Penn's analysis of the 1,000 non-small-cell lung cancer patients, completed in 2015, found roughly 20% have mutations that would specify an FDA-approved targeted therapy. According to Abigail Berman, MD, clinical associate director the precision medicine center, this often has translated into more personalized care for these complicated patients.
“We know patients eligible for targeted therapies do better over time,” Berman says, “and Penn and other centers are ensuring these patients get appropriate therapies.”
Penn aims to provide multidisciplinary care as lung cancer patients’ genetic-mutation status becomes understood, explains Berman, an assistant professor of radiation oncology. This includes exploring whether to use targeted radiation or surgery for the individual, whether to follow up with post-surgical drugs, whether radiation or other therapies might be used to avoid possible recurrences, and, broadly, trying to balance care costs and available resources.
Berman and Roth cite challenges inherent in bringing precision medicine into routine patient care, but note Penn is developing strategies to do so. Penn's precision-medicine center has an outcomes team that measures the clinical and economic impact of its work so that payers might be better informed, Roth says. The center's mobile task force is working to bring new personalized-care approaches into various service lines so clinicians can make use of genetic-level information in targeting therapies for patients. And Penn is putting patients' genomic data into the system's electronic health records (EHRs).
Absent an FDA requirement for genetic testing prior to initiating a particular drug therapy, Cigna Corp. wants to ascertain whether scientific evidence validates that the targeted therapy will improve clinical outcomes. Such evidence is especially sought-after in evaluating whether high-cost specialty pharmaceuticals, used to treat complex conditions, warrant coverage.
“Now drugs are coming out targeting certain populations with a specific [genetic] abnormality ... and for the first time looking at medical necessity, we're looking for a specific genetic finding that may warrant coverage,” says Jeffrey Hankoff, MD, a medical officer in clinical performance and quality at Cigna. “Previously, these conditions were pretty much untreatable ... and now there's a targeted therapy that may offer substantial benefit even if it doesn't cure it.”
Hankoff also cites ivacaftor (Kalydeco), which may be prescribed for children aged two years and older who are diagnosed with cystic fibrosis. But the specialty drug is only useful for a subset of CF patients with certain genetic mutations. “A lot of people have cystic fibrosis but don't have this genetic abnormality, and without this genetic abnormality Kalydeco hasn’t been shown to be helpful,” he says.
Kalydeco “costs in the six figures for a year's treatment,” Hankoff notes, and, since 85% of Cigna’s business is administrative-services only, clients expect the insurer to administer the benefit wisely.
In June 2016, Mission Health, a nonprofit health system based in Asheville, North Carolina., began a pilot study to bring pharmacogenomic testing for Medicare beneficiaries to several physician offices in its service area. Mission also offers a personalized-medicine consultation service for participating primary care physicians. Its goal is to test 100-some elderly patients who each take four or more prescription drugs, at least one of which is on a list of drugs with a high level of evidence that certain gene variations may explain poor responses.
“We're in a rural area in western North Carolina where our leadership wants to provide cutting-edge care locally. …We know genomic medicine is the wave of the future, so we're trying to prepare our community for it,” says Lynn Dressler, Mission's director of personalized medicine and pharmacogenomics. She notes Mission's 19-county service area has a large underserved population, including many seniors and cancer patients. “We see more than 3,000 cancer patients a year here,” she says.
Mission's pilot program for seniors' genetic drug testing runs parallel to its on-campus Personalized Medicine Clinic, Dressler says. Mission opened the clinic in April 2016, and by August had done pharmacogenomic testing on about 14 adult patients. The clinic-which has a geneticist, a pharmacist trained in genetic responses to drugs, and a genetic counselor-aims to help clinicians and patients better manage medications for noncancerous conditions. It offers consultations only, sending information to the physician who made the required referral to the clinic.
Mission's personalized-medicine clinic gets physician referrals for patients with a history of poor responses to drugs, Dressler explains. She cites one patient with a hereditary disorder who was returning for surgery and hadn't found pain relief previously from post-op medications; her testing led her doctors to find better pain-management therapy.
For cancer patients, in an effort to find drugs that can match mutations in patients' tumors Mission tests hundreds of patients annually, on average, for specific markers, Dressler says. Mission conducts more comprehensive genomic profiling of about 100 cancer patients a year.