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J Genet Couns. 2018 Apr;27(2):349-357. doi: 10.1007/s10897-017-0179-3. Epub 2017 Nov 21.

Clinician-Stakeholders' Perspectives on Using Patient Portals to Return Lynch Syndrome Screening Results.

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Department of Biomedical Informatics and Medical Education, University of Washington, Seattle, WA, USA.
Department of Bioethics and Humanities, University of Washington, Seattle, WA, USA.


Test results for genetic conditions, such as Lynch Syndrome (LS), have traditionally been returned by genetic counselors or other providers who can explain results implications and provide psychosocial support. Returning genetic results through an Electronic Health Record's patient portal may increase the efficiency of returning results and could activate patient follow-up; however, stakeholder input is necessary to determine acceptability and appropriate implementation for LS. Twenty interviews were conducted with clinicians from six specialties involved in LS screening that represent a range of settings. Data were analyzed using directed content analysis and thematic analysis across content categories. Participants felt that patient portals could supplement personal calls, but the potential sensitive nature of LS screening results indicated the need for caution. Others felt that LS results could be returned through portals if there were clear explanations of the result, reputable additional information available within the portal, urging follow up confirmatory testing, and a referral to a genetics specialist. Patient portals were seen as helpful for prompting patient follow-up and providing resources to notify at-risk family members. There is potential for patient portals to return LS screening and other genetic results, however we raise several issues to resolve before implementation is warranted.


Ethics; Genetic testing; Hereditary nonpolyposis colorectal cancer; Implementation science; Lynch syndrome; Patient portals; Precision medicine; Return of results

[Available on 2019-04-01]

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