Reasons why patients decline whole genome sequencing in the MedSeq Project. D. M. Lautenbach1, J. L. Vassy2, K. D. Christensen3, A. L. McGuire4, H. L. Rehm5, M. F. Murray6, C. Y. Ho7, C. A. MacRae3,7, C. E. Seidman3,7, R. M. Miller1, C. Liu1, R. C. Green1,3 1) Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Boston , MA; 2) VA Boston Healthcare System, Boston, MA; 3) Harvard Medical School, Boston, MA; 4) Baylor College of Medicine Center for Ethics and Health Policy, Houston, TX; 5) Laboratory for Molecular Medicine, Partners Center for Personalized Genetic Medicine, Boston, MA; 6) Genomic Medicine Institute, Geisinger Health System, Danville, PA; 7) Division of Cardiology, Department of Medicine, Brigham and Womens Hospital, Boston, MA.
Background: As whole genome sequencing (WGS) becomes more accessible, it is important to understand why some patients who are interested in WGS ultimately decide not to pursue it. The MedSeq Project is a randomized clinical trial exploring how physicians and patients interpret, understand and utilize WGS results in primary care and cardiology settings. MedSeq Project patients are randomized to receive either usual care or usual care plus WGS. Reports with the genome results are placed in the patients electronic medical record. Methods: Enrolled physician-participants from primary care and cardiology recruit patients from their own practice and refer interested patients to the study staff who review the risks, benefits and limitations of WGS first by phone and then in-person during the informed consent. Reasons why these well-informed and initially-interested patients declined participation were recorded by study staff and coded by consensus. Results: During the first 6 months of recruitment, 113 patients were referred from primary care and 38 patients from cardiology. Twenty patients from primary care (17.7%) and 6 from cardiology (15.8%) declined participation. In total, 24 patients provided 25 reasons for declining study participation (1 patient gave 2 reasons and 2 gave no reason). Nineteen of 25 reasons (76%) were related to a potential negative impact: 12 patients were concerned about potential insurance discrimination with their results placed in their medical record, 6 did not wish to learn specific results, and 1 was concerned about privacy in regard to his/her sequencing data being shared with the scientific community. Six of 25 reasons (24%) were logistical: 6 patients were concerned about the time commitments of participating. Three of these 6 desired WGS but did not want to commit because the randomized study design meant that they might not receive WGS. Conclusions: Preliminary data suggests that some patients interested in WGS decline such testing due to concerns about a potential negative personal impact of having these results available and placed in their medical record. Others declined WGS simply because they did not want to commit their time to the research visits, surveys and interviews. Some were so enthusiastic about WGS that they did not wish to contribute their time to the study if not guaranteed WGS. We will continue to collect reasons for decline as recruitment progresses.
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