MedSeq: Integration of Whole Genome Sequencing into Clinical Medicine

Project Description

Gene_seq2 (320x240)
Clinical Sequencing Research

The MedSeq Project is one of the nine projects funded by the NIH’s Clinical Sequencing Exploratory Research program. MedSeq is exploring and comparing the impact of using whole genome sequencing (WGS) in two distinct clinical settings, primary care and cardiology. This randomized controlled trial is enrolling primary care physicians and their healthy, middle-aged patients, and cardiologists and their patients presenting with cardiomyopathy. Enrolled patients are randomly assigned to either undergo WGS or receive current standard of care.

Major goals of the project include creating standards for genetic variant disclosure to physicians and their patients, a careful examination of the preferences and motivations of physicians and patients enrolled, evaluating the flow and utilization of genomic information within the clinical interactions, and assessing the understanding, behavior, medical consequences and healthcare costs associated with the use of WGS in these models of medical practice.

Supported by: U01HG006500, National Human Genome Research Institute, NIH

Project Personnel

Principal Investigators

Robert Green, M.D., M.P.H., Overall Principal Investigator, Project 3 Co-Principal Investigator
Christine Seidman, M.D., Project 1 Co-Principal Investigator
Mike Murray, M.D., Project 1 Co-Principal Investigator
Isaac Kohane, M.D., Ph.D., Project 2 Co-Principal Investigator
Heidi Rehm, Ph.D., Project 2 Co-Principal Investigator
Amy McGuire, J.D., Ph.D., Project 3 Co-Principal Investigator

Center Project Personnel 

Jennifer Blumenthal-Barby, Ph.D., Co-Investigator
Pamela Diamond, Ph.D., Co-Investigator
Jill Oliver Robinson, M.A., Sr. Project Manager

Publications

Robinson JO, Carroll TM, Feuerman LZ, Perry DL, Hoffman-Andrews L, Walsh RC, Christensen KD, Green RC, McGuire AL. Participants and Study Decliners' Perspectives About the Risks of Participating in a Clinical Trial of Whole Genome Sequencing. J Empir Res Hum Res Ethics, 2016. [Epub ahead of print]

Lupo PJ, Robinson JO, Diamond PM, Jamal L, Danysh HE, Blumenthal-Barby J, Lehmann LS, Vassy JL, Christensen KD, Green RC, McGuire AL. Patients' perceived utility of whole-genome sequencing for their healthcare: findings from the MedSeq project.  Per Med, 13(1), 2016: 13-20.

Christensen KD, Vassy JL, Jamal L, Lehmann LS, Slashinski MJ, Perry DL, Robinson JO, Blumenthal-Barby J, Feuerman LZ, Murray MF, Green RC, McGuire AL. Are Physicians Prepared for Whole Genome Sequencing? A Qualitative AnalysisClin Genet, 89(2), 2016: 228-34.

Vassy JL, Christensen KD, Slashinski MJ, Lautenbach DM, Raghavan S, Robinson JO, Blumenthal-Barby J, Feuerman LZ, Lehmann LS, Murray MF, Green RC, McGuire AL. Someday it will be the norm': physician perspectives on the utility of genome sequencing for patient care in the MedSeq ProjectPer Med, 12(1), 2015: 23-32.

Green RC, Lautenbach D, McGuire AL. GINA, Genetic Discrimination, and Genomic MedicineN Engl J Med, 372(5), 2015: 397-399.

Vassy JL, McLaughlin HL, MacRae CA, Seidman CE, Lautenbach DM, Krier J, Lane WJ, Kohane IS, Murray MF, McGuire AL, Rehm HL, Green RC. A One-Page Summary Report of Genome Sequencing for the Healthy AdultPublic Health Genomics, 18(2), 2015: 123-129.

Blumenthal-Barby JS, McGuire AL, Green RC, Ubel PA. How behavioral economics can help to avoid 'The last mile problem' in whole genome sequencingGenome Med, 7(1), 2015: 13. 

Blumenthal-Barby JS, McGuire AL, Ubel PA. Why Information Alone is Not Enough: Behavioral Economics and the Future of Genomic Medicine. Ann Intern Med, 161(8), 2014: 605-606. 

Vassy JL, Lautenbach DM, McLaughlin HM, Kong SW, Christensen KD, Krier J, Kohane IS, Feuerman LZ, Blumenthal-Barby J, Roberts JS, Lehmann LS, Ho CY, Ubel PA, MacRae CA, Seidman CE, Murray MF, McGuire AL, Rehm HL, Green RC. The MedSeq Project: A Randomized Trial of Integrating Whole Genome Sequencing into Clinical Medicine. Trials, 15(1), 2014: 85.

Gray SW, Martins Y, Feuerman LZ, Bernhardt BA, Biesecker BB, Christensen KD, Joffe S, Rini C, Veenstra D, McGuire AL. Social and Behavioral Research in Genomic Sequencing: Approaches from the Clinical Sequencing Exploratory Research Consortium Outcomes and Measures Working Group. Genetics in Medicine 16(10), 2014: 727-735.

McGuire AL, Joffe S, Koenig BA, Biesecker BB, McCullough LB, Blumenthal-Barby JS, Caulfield T, Terry SF, Green RC. Ethics and Genomic Incidental Findings. Science, 340, 2013: 1047-1048.

Green RC, Berg JS, Grody WW, Kalie SS, Korf BR, Marin CL, McGuire AL, et al. ACMG Recommendations for Reporting of Incidental Findings in Clinical Exome and Genome Sequencing. Genetics in Medicine 15(7), 2013: 565-574.

McGuire AL, McCullough LB, Evans JP. The Indispensable Role of Professional Judgment in Genomic Medicine. JAMA, 309, 2013: 1465-1466.

Lewis MH, Scheurer ME, Green RC, McGuire AL. Research Results: Preserving Newborn Blood Samples. Science Translational Medicine, 4(159), 2012: 159cm12.

Green RC, Berg JS, Berry GT, Biesecker LG, Dimmock D, Evans JP, Grody WW, Hegde M, Kalia S, Korf BR, Krantz I, McGuire AL, Miller DT, Murray MF, Nussbaum R, Plon SE, Rehm HL, Jacob HJ. Exploring Concordance and Discordance for Return of Incidental Findings from Clinical Sequencing. Genetics in Medicine, 14(4), 2012: 405-410.

Presentations

Christensen KD, Lupo P, Robinson JO, Blumenthal-Barby J, Vassy JL, Lehmann LS, Ubel PA, Roberts JS, Green RC, McGuire AL. Patient Perceptions about the Utility of Family History Review during Whole Genome Sequencing: Initial Findings from the MedSeq Study. The American Society of Human Genetics Annual Meeting, San Diego, CA. October 2014.

Vassy JL, Davis K, Robinson JO, Blumenthal-Barby J, Christensen KD, Green RC, McGuire AL, Ubel PA for the MedSeq Project. Contextualization and Recommendation: How Doctors and Patients Discuss Whole-Genome Sequencing and Results. The American Society of Human Genetics Annual Meeting, San Diego, CA. October 2014.

Jamal L, Robinson JO, Lupo P, Blumenthal-Barby J, Feuerman LZ, Vassy JL, Christensen KD, Slashinski MJ, Wycliff J, Green RC, McGuire AL for the MedSeq Project. Patients’ Perceptions of Whole Genome Sequencing Results and Plans to Use Non-Actionable Findings. The American Society of Human Genetics Annual Meeting, San Diego, CA. October 2014. The American Society for Bioethics and Humanities Annual Meeting, San Diego, CA. October 2014. The National Society of Genetic Counselors Annual Education Conference, New Orleans, LA. September 2014. 

McGuire A, Henderson G, Gray S, Rini C, Bernhardt B. Whole Genome/Exome Sequencing: Patient Expectations, Literacy, and Preferences for Genome Information. The American Society of Human Genetics Annual Meeting, San Diego, CA. October 2014.

Vassy JL, Christensen KD, Slashinski MJ, Lautenbach D, Robinson JO, Blumenthal-Barby J, Feuerman LZ, Green RC, McGuire AL. "Someday it will be the Norm:" Physician Perceptions of the Clinical Utility of Whole Genome Sequencing. Society of General Internal Medicine National Meeting, San Diego, CA. April 2014.

Carroll T, Robinson JO, Feuerman LZ, Lautenbach DM, Green RC, McGuire AL. ELSI Concerns of Participants and Decliners in the MedSeq Project: A Randomized Trial of Whole Genome Sequencing. The National Conference on Undergraduate Research, Lexington, KY. April 2014. The American College of Medical Genetics Annual Meeting, Nashville, TN. March 2014.

Christensen KD, Green RC, Vassy JL, Murray MF, McGuire AL. "Somebody Translate this Information for Me:" Physician Perceptions of their Preparedness to Disclose Full Genome Sequencing Results. The American College of Medical Genetics Annual Meeting, Nashville, TN. March 2014.