What Results Should Be Returned from Opportunistic Screening in Translational Research?

Abstract

Increasingly, patients without clinical indications are undergoing genomic tests. The purpose of this study was to assess their appreciation and comprehension of their test results and their clinicians' reactions. We conducted 675 surveys with participants from the Vanderbilt Electronic Medical Records and Genomics (eMERGE) cohort. We interviewed 36 participants: 19 had received positive results, and 17 were self-identified racial minorities. Eleven clinicians who had patients who had participated in eMERGE were interviewed. A further 21 of these clinicians completed surveys. Participants spontaneously admitted to understanding little or none of the information returned to them from the eMERGE study. However, they simultaneously said that they generally found testing to be "helpful," even when it did not inform their health care. Primary care physicians expressed discomfort in being asked to interpret the results for their patients and described it as an undue burden. Providing genetic testing to otherwise healthy patients raises a number of ethical issues that warrant serious consideration. Although our participants were enthusiastic about enrolling and receiving their results, they express a limited understanding of what the results mean for their health care. This fact, coupled the clinicians' concern, urges greater caution when educating and enrolling participants in clinically non-indicated testing.

Return of individual research results from genomic research: A systematic review of stakeholder perspectives

“…Most participants reported either positive or neutral impacts of receiving results, both when they were related to the study and also for UF/SF [ 9 , 65 , 79 , 153 , 157 , 159 , 174 – 176 , 178 , 179 , 181 , 182 , 185 , 187 , 190 , 191 , 195 ]. A study of 17 research participants and family members who received UF showed that most (16/17) found the process mainly positive or useful and were thankful for being told they have the disease, both for their own wellbeing and also because it provides valuable knowledge for their children [ 153 ].…”

“…However, some studies identified negative or mixed emotions from receiving IRR [ 174 – 178 , 182 , 196 , 202 ]. A study of 10 women who had participated in the Australian Ovarian Cancer Study to determine prevalence of BRCA1 and BRCA2 mutations and 15 next of kin showed that interviewees had mixed responses to receiving feedback; many of the relatives were initially distressed, particularly if they had not realised their mother had participated in the study [ 196 ].…”

Ethical conflicts in translational genetic research: lessons learned from the eMERGE-III experience

“…Yet eMERGE-III was intrinsically limited in its ability to achieve these goals for a host of reasons. As we have reported elsewhere, 16,17 the participants' personal clinicians-the very ones who, once the tests were incorporated into routine care, presumably would order these tests themselves or would refer patients to other physicians for testing-often were not prepared or willing to deal with these results. Thus, eMERGE investigators in these studies often had to return results themselves, even though they typically did not have a personal relationship with participants as they would have with their own patients.…”

“…A clinical staff with adequate training and infrastructure to respond to individual participants’ questions and concerns about results is essential. This will be a challenge, given how little many participants understand about genomic results 17 and the scale of these projects. Another required element is humility in relying on such research studies to inform practice, since translational research inherently will not replicate the broad and variably resourced clinical domain in which these tests are to be used.…”

An electronic health record (EHR) log analysis shows limited clinician engagement with unsolicited genetic test results

“…Further study is needed into user characteristics, their role-specific informational and workflow needs, and the factors that influence their engagement with clinical and genomic data presented in the EHR. This information will inform the design of EHR data displays and clinical-decision support tools that are accessible, easy-to-consume, usable across diverse practice settings, 32 , 34 and effective in promoting clinicians’ engagement and utilization of the genomic data.…”