With a $1.4 million grant from the Patient-Centered Outcomes Research Institute, researchers at the Geisinger Health System will study how best to communicate results to patients undergoing whole-genome sequencing for undiagnosed diseases.
Geisinger's Genomic Medicine Institute is currently recruiting children with undiagnosed intellectual disabilities and their families for a study in which participants will receive whole-genome sequencing and interpretation as part of the effort to improve their care. The PCORI grant will fund an offshoot effort by Geisinger researchers to gauge what information study participants wish to learn from whole-genome sequencing, and how they want to receive and store that complex data.
The award to Geisinger was part of more than $114 million approved by PCORI's board of governors for more than 70 out of nearly 600 submitted proposals. PCORI, a non-profit organization formed by the 2010 Patient Protection and Affordable Care Act, funds research on the comparative safety and efficacy of medical interventions, healthcare delivery models, and infrastructure, so patients and providers can make evidence-based decisions. The organization places a strong emphasis on patient choice and input in the research it funds.
Marc Williams, director of Geisinger's Genomic Medicine Institute, decided to apply for this grant after noting through his own work in the genomics space that while there are efforts to try to refine genetic and genomic testing reports for physicians, there are no best practices establishing how to convey to patients their own genomic data. Williams is leading a team of scientists who have set out to develop a framework for returning to patients and their families results from tests performed in a research context so that they can understand and store it for future use.
Geisinger researchers decided to pursue this project after they noted that most of the patients and their families participating in the whole-genome sequencing study wanted access to their test data. They didn't just want to learn about the genomic markers with evidence-backed disease associations or about the genetic diseases that doctors can do something about. They wanted all of it.
"Our patients are really interested in getting these results," Williams told PGx Reporter. "This has been a very consistent message from our patients that they really want to have access to the information."
Of course, there may be some types of genomics information that patients don't wish to know, even if they are highly educated about the limitations of the scientific data. Genomics pioneer James Watson famously asked to remain uninformed about his APOE Alzheimer's risk status when his genome was sequenced. Williams noted that he and his colleagues aren't going into this project with any preconceived notions about how data from whole-genome sequencing should be delivered to patients.
Williams was among the authors of a recently published report on how labs should communicate incidental findings from clinical exome and genome sequencing to patients. In that report, the American College of Medical Genetics and Genomics recommended that labs performing clinical exome or genome sequencing test for known pathogenic variants in 57 disease genes related to 24 disorders and return those results to ordering physicians, even if their patients prefer not to know this information (CSN 5/8/2013).
The recommendations have inspired much debate in the life sciences community about what types of genomic test results should be returned to patients, the degree to which patient preferences should guide physician-patient interactions, and how unexpected test information conveyed to patients might impact them, as well as healthcare utilization. Most labs that have adopted the ACMG guidelines have also maintained patients' choice by allowing them to opt out of learning about specific markers. Other researchers, particularly those working with patients with difficult to treat or undiagnosed illnesses, have argued that it may be more beneficial to provide patients all their data from sequencing tests, particularly so they can use the information in the future as the field advances and researchers continue to learn about the genomic underpinnings of diseases.
It is worth noting that Geisinger researchers are studying patients with undiagnosed illnesses who want to learn about the cause of their condition, probably much more so than the average healthcare consumer. Williams noted that the patients participating in the whole-genome sequencing project are acutely aware that their doctors are busy, and want to educate themselves about their medical history so they can ensure that the information is used to inform care when appropriate.
Outside of the genomics effort, Geisinger has been working to be more transparent with the patients it serves. Earlier this year, more than 500 Geisinger doctors joined the OpenNotes program to offer some 100,000 patients access to their notes through a secure portal. Doctors in the US Department of Veterans Affairs, Beth Israel Deaconess Center, and Seattle's Harborview Medical Center have similarly joined the OpenNotes movement.
"Ultimately, what we found was that patients who were able to access their notes were more engaged in their care, were more likely to follow recommendations, and so this has led to a transition of philosophy within the Geisinger system to enhance our transparency and provide access to more and more information to our patients," Williams said, noting that initially healthcare providers were concerned about how OpenNotes would impact the doctor-patient interaction.
Geisinger is studying how best to communicate genomic information to patients in this same spirit of transparency. "They really feel an ownership over their [genomic] data and it's something we thought we had to pay attention to, since we heard so many of our patients saying that," he said.
The three-year project will enroll between 50 and 80 families, who will engage with 10 to 15 healthcare providers, mainly pediatric neurologists, geneticists, and developmental pediatricians. Because the whole-genome sequencing project is aiming to diagnose intellectual disabilities in children, their parents will be managing the genomic data from the tests. In one arm of the study, researchers will give both the parents and the doctors genetic test reports, and in another arm, just the physicians will receive a report with resources to help them discuss the results with their patients. The study investigators will then compare the physician-patient interactions between the two groups.
Many of the challenges of giving patients their genomic data are logistical, for example, how best to store the data and in what medium to present the data. Before conducting the study, Geisinger plans to survey participants about their preferences on these issues. According to Williams, Geisinger's patient portal is capable of storing patients' genomic information. Another option might be to deliver the information through a secure, independent web interface, so patients can still access the data if they move to another healthcare system.
Ultimately, with this study, Geisinger researchers want to determine how best to tailor genomic information to patients, so they themselves can directly receive and manage this information, instead of depending on a physician. "We think there is value to finding ways to try to communicate that information directly to patients," Williams said. "We think that will make patients more engaged in their care and be more willing to ask more questions about these complicated pieces of information."
Although this project is being carried out in a limited research setting, Williams hopes that researchers will be able to develop general recommendations for communicating genomic information to patients across provider groups at Geisinger.