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Healthcare Providers Try New Ways to Share Genetic Test Results With Patients, but Pitfalls Remain


CHICAGO — Healthcare organizations and physicians are increasingly open to sharing medical records with patients in an effort to increase transparency and patient engagement. 

With genetic testing becoming more common, some are trying to replicate the success they have had with making complete clinical notes available to patients by expanding the sharing to genomic reports. Naturally, there are questions from an industry notoriously resistant to change. 

At the annual American Medical Informatics Association (AMIA) conference in November, the chief health informatics officer of Memorial Sloan Kettering Cancer Center said that his institution is exploring ways to allow patients to read full genomic reports through MSK's online portal. 

The speaker, Peter Stetson, who also serves as deputy physician-in-chief for the New York-based organization, did not offer many details beyond mentioning OpenNotes, a national initiative to make unedited progress reports and test results available to millions of patients. 

Stetson did not respond to multiple interview requests, but if the cancer center goes through with those plans, it would be among a very small number of healthcare organizations to make a special effort to include genomics in their portals as part of the OpenNotes movement. 

OpenNotes launched in 2010 as a research study involving Boston's Beth Israel Deaconess Medical Center, Geisinger Health System in Pennsylvania, and Harborview Medical Center in Seattle, and funded by the Robert Wood Johnson Foundation. Those institutions undertook an exploratory study with 105 primary care physicians, who invited 20,000 patients to read complete clinical notes through secure online portals. 

Researchers from the participating organizations published their first paper in 2012, with surprisingly positive results. Despite initial fears, physicians reported little change in their workload, and rather than being worried or confused by seeing unvarnished progress notes, patients largely reported feeling more in control of their own healthcare.  

"Patients were so enthusiastic. And doctors had to admit that it really didn't bother them very much," said OpenNotes Cofounder Jan Walkernow a researcher in patient engagement and the application of IT to improve primary care at BIDMC.

"Once organizations realized, 'Oh, my gosh, the sky does not fall, the world doesn't end, pigs don't fly when patients read their notes,' some other organizations came on board," said Liz Salmi, senior strategist for OpenNotes who focuses on research dissemination. 

The US Department of Veterans Affairs came on board in 2013, making clinician notes available to more than 1 million veterans though an upgraded portal. By mid-decade, OpenNotes landed more funding and set a goal of making the service available to 50 million people.  

There are now about 44 million people in the US who see doctors at institutions participating in OpenNotes, including the entire VA health system, which serves 9 million individuals, and the strategy has expanded far beyond primary care. 

"The vast majority, if not all, of institutions that adopt [do so] institution-wide. It's not just in primary care anymore," Walker said. OpenNotes is still mainly in use in ambulatory care, but it covers the gamut of medical specialties. 

Walker said she was unaware of any other OpenNotes participant specifically focusing on genetic reports as MSK was talking about, though the University of Texas MD Anderson Cancer Center was doing this kind of information sharing in oncology even before OpenNotes existed. MD Anderson physicians described their philosophy in a 2011 editorial in the Annals of Internal Medicine. 

Some institutions go about sharing clinical notes on their own. OpenNotes has developed toolkits for such cases. Walker said that the toolkits have been downloaded thousands of times.

"I imagine this genomics stuff will go online. I predict it is going to be the same as everything else," Walker said"Patients will figure out what they need to figure out. One of the things I think about patients is that when they read notes, they may not understand every single medical nuance, but they understand what they need to get out of it.

Walker encourages organizations like MSK to experiment with new use cases for OpenNotes. "Let us know how it goes. Let us know what you learn," she said. "Open almost always is better than not. If you can do patient education, great, but even if you can't, just get it out there."

It used to be common for healthcare organizations not to release a pathology report until the physician has had a conversation with the patient. "Now I hear a lot of places just put them up. It's just gradually getting looser and looser, I think," Walker said. 

Genomics is another organic evolution of the idea. 

At the AMIA meeting, held in Washington, DC, after Stetson said that MSK was going to start disseminating genetic reports via OpenNotes, he asked the audience if anyone else was doing the same. Nobody said yes.  

In that same session, a panel about decision support for genomically informed cancer therapy, another participant said that not even physicians understand genomic reports. Time ran out before Salmi, who was present, was able to get in a question from the audience.  

"We're saying not even the doctor understands everything completely, but what we know from OpenNotes is it's not about understanding every single thing in the record for the patient," Salmi, a brain cancer patient in Sacramento, California, later told GenomeWeb. "It's the offer of transparency, which helps lead to better decision-making and open, honest conversations." 

In genomics, those conversations would include consultations between patients and genetic counselors. 

Genetic counselor Eleanor Griffith, founder of Brooklyn, New York-based telehealth services company Grey Genetics, said that she was familiar with the OpenNotes name but did not know about it in detail. 

"I think the goals make a lot of sense, but I think just like in healthcare in general, it's infuriating how hard it is to get a copy of your own medical records even when you've paid for those test results," Griffith said. "Like, it's absurdly difficult." 

Griffith said that she would like to see disclosure of results, either electronically or by phone, become part of the standard of care for counselors developing follow-up plans. 

She mentioned a 2017 lawsuit by a patient in Oregon who had a bilateral mastectomy and a hysterectomy after medical practitioners allegedly misinterpreted her risk for breast and uterine cancer based on a genetic test.

The suit claimed that the medical practice recommended the procedures even though the woman's mammogram, pap smear, and other test results came back normal. The genetic test report did not find any "clinically significant mutation," her lawyer told GenomeWeb in 2017, but it did flag a variant of unknown significance (VUS) in MLH1, which might have confounded her caregivers. 

Variations in MLH1 are associated with Lynch syndrome, a hereditary cancer syndrome associated with an increased risk for colorectal, endometrial, and other types of cancers, though not clearly with breast cancer. Variations in genes are common, and usually turn out to be benign. 

"I was struck in that case specifically that the patient didn't actually get to see a copy of her results. If she'd actually gotten to see her results, maybe it would have been different," Griffith said. 

However, she has reservations about the OpenNotes notion of immediately releasing complete results to patients at the same time the reports are available to cliniciansHealth systems and labs might not be familiar with the experience from the patient's perspective. 

"One of the issues already with genetic testing results is they might not be in the medical record in an ideal way and located somewhere where a lot of the records would be located," Griffith said. 

Griffith relayed an experience she had with a care provider recently where she was told to log into the patient's Epic Systems MyChart portal and click under the "media" tab. The Epic electronic health records system in the hospital had such a tab, but the portal did not.  

"Without even talking about patients having access to genetic testing results, sometimes it's hard to have easy access to genetic testing results within an [EHR] electronic medical system because some test results might be done through a big reference lab where it automatically filters into the chart in this nice, seamless way and they're just there," Griffith noted.  

Often, though, the third-party commercial lab sends the result as a PDF or a piece of paper that needs to be scanned into the EHR. "Depending on how and where things are scanned in and if and how they're labeled, they may not get noticed," she said. 

Griffith said that her father, a surgeon, occasionally asks her about various test reports. One had been photocopied and faxed so many times that the image was difficult to read, and her dad had no idea that the reports are produced in full color and available through the lab's website.

Griffith would like patients to have reports before she discusses cases with them, but not necessarily at the very instant the lab approves the test results. She would prefer EHR systems give physicians the choice of when to release results. "I'd like to give them the chance to call," she said. 

"I've been thinking more from the perspective of what I would do differently in terms of letting a patient know about how and when and where their results are going to be available. But most genetic tests are not ordered with a genetic counselor involved," Griffith continued. 

Griffith said that she often hears from clinicians that patients wouldn't understand genetic test results and that many lack basic health literacy. "But more and more labs really do try to write their reports in a way that's pretty accessible," she said. 

"I think there's definitely the possibility of a patient misinterpreting test results, just like people are concerned about them misunderstanding what's written in the medical chart. But we know that already happens with physicians," Griffith said. 

As a telehealth genetic counselor, Griffith wants patients to have the results in front of them when discussing their cases, but it would help to have that information more tightly integrated with patient and family medical histories, an area where some EHR systems fall short.   

"All of the EHRs … just don't really lend themselves toward having the family history front and center. Ideally, anytime someone is looking at test results, the family history information should be close by or easily accessible," Griffith said. 

One organization that started independently of OpenNotes and now shares every test result — including genomic reports — is Keck Medicine of the University of Southern California. 

Keck has been using a Cerner EHR since 2013 and started sharing test results when it turned on its patient portal a year later. The "full and immediate release of the lab catalog," including genetic tests, started in mid-2017, according to CMIO Gil Shlamovitz. 

The academic health system added physician notes — clinical notes, consult notes, operative reports, emergency department reports, and the like — as part of the OpenNotes program in October 2018. 

"We did not carve out genomics or genetics or sexually transmitted disease or cancer tumor markers, or anything like that since our patients were very clear in their [request for] access to everything that is theirs," Shlamovitz said. 

Each of Keck's three hospitals has its own patient and family advisory council, and there is a similar council for Keck Medicine's ambulatory services.  

"All of these groups work together and our consumers communicate it to us very clearly that they would like full access and immediate access to their information," Shlamovitz said. "It became very clear to us that we would like to provide access to everything that we can technically provide access to and are legally permitted to provide access to."

Keck's USC Norris Comprehensive Cancer Center is one of the original five National Cancer Institute-designated centers, so it has a long history of performing genetic tests on oncology patients.  

Salmi said that at least half of the NCI-designated cancer centers and a similar share of the US News and World Report list of the top 50 cancer centers in the country share now clinical notes with patients. A recent addition is City of Hope National Medical Center, which launched its OpenNotes initiative in September, she said. 

Griffith said she is most worried about potential harm from the immediate release of genomic results"The patient should receive results in an environment where professional and emotional support are available to help them absorb information that potentially could be overwhelming," she said. 

It would be a bad idea to have a phone consultation about a positive test result with a patient who is driving, for example. "You're already not receiving that in a supportive environment, and you don't have a copy of the record," Griffith said. 

"Overall, I think it's still better for people to have easy access to that information."