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Physicians Raise Concerns on Receiving Unsolicited Genomic Results for Healthy Patients

NEW YORK (GenomeWeb) – A group of researchers led by the Electronic Medical Records and Genomics (eMERGE) Network at Vanderbilt University surveyed physicians for their perspectives on genomic test results they didn't order, which the researchers termed "unsolicited genomics results" (UGRs). The investigators asked the doctors how such information has affected their clinical practices and patients, in order to understand clinicians' worries and provide a more complete picture of how genomic screening could be used with real-time healthcare delivery.

In the study, which was published yesterday in Genetics in Medicine, the researchers interviewed primary care providers and non-geneticist specialists at four sites associated with eMERGE. First, the team asked questions that probed the doctors' opinions about the forthcoming results from eMERGE III — a panel sequencing about 110 genes linked to treatable and preventable diseases — as well as general UGRs. The 25 clinicians then discussed how UGRs would affect actionability, impact on patients, healthcare workflows, the return-of-results process, and responsibility for results.

The researchers found that physicians prioritize the usefulness of UGRs and the need for clear, evidence-based paths for action, as well as clinical decision support. Many physicians were also concerned that they would not know how to respond to UGRs, which may potentially limit the results' utility.

Physicians further identified possible benefits of UGRs, including targeted screening, earlier intervention, and establishing care with the appropriate specialists. In addition, some clinicians believe that UGRs could improve routine patient care, as the results could explain symptoms that they didn't understand at first or missed during initial diagnosis.

However, clinicians also identified potential harms the UGRs may cause patients, including anxiety, false reassurance, and clinical disutility. The study's participants noted that they could do little to fix psychological distress about diseases or conditions that patients might develop after learning about their genetic results. The physicians believed that UGRs could cause unnecessary interventions and joint risks, complications, and increased costs for patients.

The clinicians also worried about their own professional potential workflow issues as well, including responding to UGRs and unreimbursed time. Some thought that explaining UGRs to their patients would limit the time needed for other important procedures during a patient visits. The researchers also pointed out that doctors did not know if they would be reimbursed for professional time spent on interpreting UGRs.

In addition, a number of clinicians worried that their patients' genetic information would disappear or be transferred improperly if they changed providers or health systems. According to the authors, physicians "expected a low threshold for referring to other providers when faced with UGRs due to personal lack of expertise and a sense that specialists would be better suited to respond to results."

If they used UGRs, physicians argued for increased expectations for improved clinical decision support with the UGRs, and integrating the information with set plans to help patients before their medical appointments. They wanted the support to include information on prognosis, penetrance, and urgency, in addition to specific recommendations for screening, referrals, and the potential for testing relatives.

However, the physicians had different opinions regarding who held responsibility for replying to the UGRs. While certain providers did not believe they are responsible for that aspect because genetic testing existed outside their realm of medical knowledge, others emphasized that the process needed a clear transfer of responsibility to a treating physician.

In addition, the physicians did not know who should "own" the patients' UGRs, especially those of patients visiting multiple specialists. At the same time, certain doctors acknowledged that once they found out about an individual's results, they felt personally obligated to reach out to their patient regardless of who actually ordered the initial test.

Overall, the clinicians understood the eMERGE III project to be a "form of opportunistic medical screening, and they raised concerns that large panel-based risk testing lacked validation compared with familiar evidence-based screening practices," the authors wrote.

The researchers acknowledged that at least three academic centers involved in the study were heavily invested in genomics, which limited general application to other healthcare settings where clinicians are likely even less prepared to deal with UGRs. In addition the small sample size did not allow the team to observe any underlying differences in perspectives among provider types.

In the future, the team said it will assess healthcare professionals' actions and impressions in response to UGRs returned through eMERGE. In addition, the authors noted that future studies in eMERGE III will "focus on how the UGRs affect the health behaviors, subjective wellbeing, and health outcomes of tested individuals."

The researchers believe that future strategic workflow of UGRs will eventually help allow physicians to expedite patient treatment.