If you have a genetic mutation that increases your risk for a treatable medical condition, would you want to know? For many people the answer is yes. But typically such information has not been a part of routine primary care.

For patients at Geisinger Health System, that could soon change. Starting in the next month or so, the Pennsylvania-based system will offer DNA sequencing to 1,000 patients, with the goal of eventually extending the offer to all 3 million Geisinger patients.

The health system’s test will look for mutations in at least 77 genes. Many have been associated with medical conditions — dozens of them, ranging from heart disease to cancer. Others have been linked to variability in how people respond to certain medicines based on heredity.

“We’re giving more precision to the very important decisions that people need to make,” says Dr. David Feinberg, Geisinger’s president and CEO. In the same way that primary care providers currently suggest checking someone’s cholesterol, he says, “we would have that discussion with patients: ‘It looks like we haven’t done your genome. Why don’t we do that?’ “

But some physicians and health policy analysts question whether such genetic information is necessary to provide good primary care and whether handling such testing is feasible for many primary care physicians.

The new clinical program builds on a research biobank and genome-sequencing initiative called MyCode that Geisinger started in 2007 to collect and analyze its patients’ DNA. That effort has enrolled more than 200,000 people.

Like MyCode, the new clinical program will be based on “whole exome” sequencing, analyzing the roughly 1 percent of the genome that provides instructions for making proteins, where most known disease-causing mutations occur.

Using this analysis, clinicians could tell Geisinger patients whether or not they have a genetic variant associated with Lynch syndrome, for example, which leads to an increased risk of cancer of the colon and some other cancers. Or doctors could could offer guidance to patients found to have an increased risk for familial hypercholesterolemia, which can result in high cholesterol levels and heart disease at a young age.

Still other patients who undergo the exome sequencing might learn they have an increased susceptibility to malignant hyperthermia, because of a gene variant that causes a severe reaction to certain medications used during anesthesia; the reaction can be fatal.

Geisinger spokesperson Wendy Wilson says that what the company plans is very different from direct-to-consumer services like 23andMe — which tests customers’ saliva to determine their genetic risk for several diseases and traits, only some of which are medically actionable, and makes the results available in an online report.

“Geisinger is prescribing DNA sequencing to patients and putting DNA results in electronic health records and actually creating an action plan,” Wilson says. “We are preventing disease from happening.”

Geisinger says its program will work like this: Samples of a patient’s blood or spit will be used to get a DNA sample. After analysis, the results will be sent to the patient’s primary care doctor.

The doctor will then take a 30-minute online continuing education tutorial to review genetic testing, and get more information on whatever specific susceptibilities have turned up in that patient’s results.

After that, the patient will be informed and invited to meet with the primary care provider, along with a genetic counselor if desired. At that point the doctor and patient can discuss treatment and prevention options, including any particular lifestyle changes that might reduce the risk of developing the disease or condition.

About 3.5 percent of the people who have already been tested through Geisinger’s research program had a genetic variant that could result in a medical problem for which clinicians can recommend helpful steps to influence their health, Feinberg says.

In the clinical program, only actionable mutations will be communicated to patients. The health care team, for example, won’t inform patients if they have a variant of the APOE gene that somewhat increases their risk for getting Alzheimer’s disease, because that information wouldn’t change anything about their medical treatment. (Geisinger is developing a policy for how to handle these results if patients ask for them.)

Insurance companies typically don’t cover DNA sequencing and do limit a patient’s coverage for adult genetic tests for specific mutations, such as those related to the breast cancer susceptibility genes BRCA1 or BRCA2, unless the patient has a family history of the condition or other indications they’re at high risk. For each of the patients it tests, Geisinger will absorb the estimated $300 to $500 testing cost.

“Most of the medical spending in America is done after people have gotten sick,” says Feinberg. “We think this will decrease spending on a lot of care.”

But some clinicians and academics outside Geisinger aren’t so sure. One of them is Dr. H. Gilbert Welch, a professor at the Dartmouth Institute for Health Policy and Clinical Practice, who has written books about the hazards of overdiagnosis and overscreening, including, Less Medicine, More Health.

He credits Geisinger with carefully targeting the mutations in which it looks for actionable mutations, instead of taking an all-encompassing approach. And he acknowledges that for some conditions, like Lynch syndrome, people with certain genetic mutations would benefit from being followed closely. But he questions the value of DNA sequencing to identify some other susceptibilities, such as some of the genetic variants related to cardiovascular disease.

“What are we really going to do differently for those patients?” he asks. “We should all be concerned about heart disease. We should all exercise; we should eat real food.”

Welch says he’s also concerned about the cascading effect of expensive and potentially harmful medical treatment when a genetic risk is identified.

“Doctors will feel the pressure to do something — start a medication, order a test, make a referral,” he warns. “You have to be careful. Bad things happen.”

Other clinicians question primary care physicians’ comfort with and time for incorporating DNA sequencing into their practices.

A survey published in the journal Health Affairs this month queried nearly 500 primary care providers in the New York City area and found that, in the past year, only a third of them had ordered a genetic test, given patients a genetic test result or referred someone for genetic counseling.

Only a quarter of the survey respondents said they felt prepared to work with patients who had genetic testing for common diseases or were at high risk for genetic conditions. Just 14 percent reported they were confident they could interpret genetic test results.

“Even though they had training, they felt unprepared to incorporate genomics into their practice,” says Dr. Carol Horowitz, an internist and professor at the Icahn School of Medicine at Mount Sinai in New York, who co-authored the study.

A busy primary care practitioner herself, Horowitz questions the feasibility of adding genomic medicine to regular office visits.

“Geisinger is a very well-resourced health system and they’ve made a decision to incorporate that into their practices,” she says, adding that in Harlem, where she practices, it could be a daunting challenge. “Our plates are already overflowing, and now you’re going to dump a lot more on our plate.”

Kaiser Health News, a nonprofit news service, is an editorially independent program of the Kaiser Family Foundation and not affiliated with Kaiser Permanente.

Let’s block ads! (Why?)

One patient’s death changed the course of Dr. Lilia Cervantes’ career. The patient, Cervantes says, was a woman from Mexico with kidney failure who repeatedly visited the emergency room for more than three years. In that time, her heart had stopped more than once, and her ribs were fractured from CPR. The woman finally decided to stop treatment because the stress was too much for her and her two young children. Cervantes says she died soon after.

Kidney failure, or end-stage renal disease, is treatable with routine dialysis every two to three days. Without regular dialysis, which removes toxins from the blood, the condition is life threatening: Patients’ lungs can fill up with fluid, and they’re at risk of cardiac arrest if their potassium level gets too high.

But Cervantes’ patient was undocumented. She didn’t have access to government insurance, so she had to show up at the hospital in a state of emergency to receive dialysis.

Cervantes, an internal medicine specialist and a professor medicine at University of Colorado in Denver, says the woman’s death inspired her to focus more on research. “I decided to transition so I could begin to put the evidence together to change access to care throughout the country,” she says.

Cervantes says emergency-only dialysis is harmful to patients: The risk of death for someone receiving dialysis on an emergency basis is 14 times higher than someone getting standard care, she found in research published in February. Cervantes’ newest study, published Monday in the Annals of Internal Medicine, shows these cyclical emergencies harm health care providers, too. “It’s very, very distressing,” she says. “We not only see the suffering in patients, but also in their families.”

There are an estimated 6,500 undocumented immigrants in the U.S. with end-stage kidney disease. Many of them can’t afford treatment or private insurance, and are barred from Medicare or Medicaid. This means the only way they can get dialysis is in the emergency room.

Cervantes and her colleagues interviewed 50 healthcare providers in Denver and Houston and identified common concerns among them. The researchers found that providing undocumented patients with suboptimal care because of their immigration status contributes to professional burnout and moral distress.

“Clinicians are physically and emotionally exhausted from this type of care,” she says.

Cervantes says the relationships clinicians build with their regular patients conflicts with the treatment they have to provide, which might include denying care to a visibly ill patient, because their condition was not critical enough to warrant emergency treatment.

“You may get to know a patient and their family really well,” she says. Providers may go to a patient’s restaurant, or to family gatherings such as barbacoas or quinceañeras.

“Then the following week, you might be doing CPR on this same patient because they maybe didn’t come in soon enough, or maybe ate something that was too high in potassium,” she says.

Other providers, Cervantes says, report detaching from their patients because of the suffering they witness. “I’ve known people that have transitioned to different parts of the hospital because this is difficult,” she says.

Melissa Anderson, a nephrologist and assistant professor at the Indiana University School of Medicine in Indianapolis who was not involved in Cervantes’ study, says Cervantes research matches her own experience. She says that when she worked at a safety net hospital in Indianapolis, patients would come to the ER when they felt sick. But some hospitals would not provide dialysis until their potassium was dangerously high.

To avoid being turned away when their potassium level was too low, she says, patients in the waiting room would drink orange juice, which contains potassium, putting themselves at risk of cardiac arrest.

“That’s Russian roulette,” Anderson says. “That was hard for all of us to watch.”

Anderson eventually stopped working at that hospital, and like Cervantes, has also worked on research and advocacy efforts to change how undocumented immigrants with kidney failure are treated. “I practically had to take a class in immigration to understand what’s going on,” she says. “Physicians just don’t understand it, and we shouldn’t have to.”

Providers in Cervantes’ study also worried that these avoidable emergencies strain hospital resources — clogging emergency departments when undocumented patients could simply receive dialysis outside the hospital — and about the cost: Emergency-only hemodialysis costs nearly four times as much as standard dialysis, according to a 2007 study from researchers at Baylor College of Medicine.

Those costs are often covered by taxpayers through emergency Medicaid, which pays for emergency treatment for low-income individuals without insurance. In a study published in Clinical Nephrology last year, Anderson and her colleagues found that at one hospital in Indianapolis, the state paid significantly more for emergency-only dialysis than it did for more routine care.

Areeba Jawed, a nephrologist in Detroit who has performed her own survey research into this issue, said many providers don’t understand how much undocumented immigrants actually contribute to society, while receiving few of the societal benefits. “A lot of people don’t know that undocumented immigrants do pay taxes,” she says. “There’s a lot of misinformation.”

“I think there are better options,” says Jawed, who has treated undocumented patients there and in Indianapolis.

To work around this problem, some hospitals simply provide charity care to cover regular dialysis for undocumented patients. But Cervantes argues that a better solution is a policy fix. States are allowed by the federal government to define what qualifies as an emergency.

“Several states, like Arizona, New York and Washington, have modified their emergency Medicaid programs to include standard dialysis for undocumented immigrants,” she says.

Illinois covers routine dialysis and even passed a law allowing undocumented immigrants to receive kidney transplants, she points out.

“Ideally, we could come up with federal language and make this the national treatment strategy for undocumented immigrants,” Cervantes says.

Ultimately, Cervantes says providers don’t want to treat undocumented patients differently. “At the end of the day, clinicians become providers because they want to provide care for all patients,” she says.

This story was produced in partnership with Side Effects Public Media, a news collaborative covering public health.

Let’s block ads! (Why?)