The MedSeq Project – Genomes to People

Genome sequencing services are increasingly being utilized by physicians and their patients in both research and clinical settings. Developing standards and procedures for the use of sequencing information in clinical medicine is an urgent need with numerous obstacles to integrity and storage of sequencing data, interpretation, and responsible clinical integration. The MedSeq Project, funded by … Continued

Publications

2021

Behavioral and psychological impact of genome sequencing: A pilot randomized trial of primary care and cardiology patients

Christensen KD, Schonman EF, Robinson JO, Roberts S, Diamond PM, Lee KB, Green RC, McGuire AL

npj Genomic Medicine | PMID: 34429410 Aug 2021

A framework for automated gene selection in genomic sequencing

Lazo de la Vega L, Yu W, Machini K, Austin-Tse CA, Hao L, Blout Zawatsky CL, Mason-Suares H, Green RC, Rehm HL, Lebo MS

Genetics in Medicine | PMID: 34113001 Jun 2021

2020

Multiple GYPB gene deletions associated with the U− phenotype in those of African Ancestry

Lane WJ, Gleadall NS, Aechlimann J, Vege S, Sanchis-Juan A, Stephens J, Sullivan JC, Mah HH, Aguad M, Smeland-Wagman R, Lebo MS, Kumar PKV, Kaufman RM, Green RC, Ouwehand WH, Westhoff CM

Transfusion | PMID: 32473076 May 2020

2019

The case for implementing sustainable routine, population-level genomic reanalysis

Lu CY, Hendricks-Sturrup RM, Mazor KM, McGuire AL, Green RC, Rehm HL

Genetics in Medicine | PMID: 31831882 Dec 2019

Analyzing and reanalyzing the genome: Findings from the MedSeq project

Machini K, Ceyhan-Birsoy O, Azzariti DR, Sharma H, Rossetti P, Mahanta L, Hutchinson L, McLaughlin H, Green RC, Lebo M, Rehm HL

American Journal of Human Genetics | PMID: 31256874 Jun 2019

Reconciling opportunistic and population screening in clinical genomics

Brothers KB, Vassy JL, Green RC

Mayo Clinic Proceedings | PMID: 30611438 Jan 2019

2018

A whole genome approach for discovering the genetic basis of blood group antigens: Independent confirmation for P1 and Xg(a)

Lane WJ, Aguad M, Smeland-Wagman R, Vege S, Mah HH, Joseph A, Blout CL, Nguyen TT, Lebo MS, Sidhu M, Lomas-France C, Kaufman RM, Rehm HL, Silberstein LE, Green RC, Mesthoff CM

Transfusion | PMID: 30592300 Dec 2018

Cost analyses of genomic sequencing: Lessons learned from the MedSeq Project

Christensen KD, Phillips KA, Green RC, Dukhovny D

Value In Health | PMID: 30224109 Sep 2018

Automated typing of red blood cell and platelet antigens: A whole-genome sequencing study

Lane WJ, Westhoff CM, Gleadall NS, Aguad M, Smeland-Wagman R, Vege S, Simmons DP, Mah HH, Lebo MS, Walter K, Soranzo N, Angelantonio ED, Danesh J, Roberts DJ, Watkins NA, Ouwehand WH, Butterworth AS, KaufmanRM, Rehm HL, Silberstein LE, Green RC

The Lancet Haematology | PMID: 29780001 May 2018

Short-term costs of integrating whole-genome sequencing into primary care and cardiology settings: A pilot randomized trial

Christensen KD, Vassy JL, Phillips KA, Blout CL, Azzariti DR, Lu CY, Robinson JO, Lee K, Douglas MP, Yeh JM, Machini K, Stout NK, Rehm HL, McGuire AL, Green RC, Dukhovny DD

Genetics in Medicine | PMID: 29565423 Mar 2018

Why patients decline genomic sequencing studies: Experiences from the CSER Consortium

Amendola LM, Robinson JO, Hart R, Biswas S, Lee K, Bernhardt BA, East K, Gilmore MJ, Kauffman TL, Lewis KL, Roche M, Scollon S, Wynn J, Blout C.

Journal of Genetic Counseling | PMID: 29497922 Mar 2018

How primary care providers talk to patients about genome sequencing results: Risk, rationale, and recommendation

Vassy JL, Davis JK, Kirby C, Richardson IJ, Green RC, McGuire AL, Ubel PA.

JGIM | PMID: 29374360 Jan 2018

Patient understanding of, satisfaction with, and perceived utility of whole-genome sequencing: Findings from the MedSeq Project

Roberts JS, Robinson JO, Diamond PM, Bharadwaj A, Christensen KD, Lee KB, Green RC and McGuire AL

Genetics in Medicine | PMID: 29300387 Jan 2018

2017

A comparison of whole genome sequencing to multigene panel testing in hypertrophic cardiomyopathy patients

Cirino AL, Lakdawala NK, Mcdonough B, Conner L, Adler D, Weinfeld M, O'Gara P, Rehm HL, Machini K, Lebo M, Blout C, Green RC, MacRae CA, Weidman CE, Ho CY

Circulation: Cardiovascular Genetics | PMID: 29030401 Oct 2017

Communication challenges for non geneticist physicians relaying clinical genomic results

Arora NS, Davis JK, Kirby C, McGuire AL, Green RC, Blumenthal-Barby JS, Ubel PA.

Personalized Medicine | PMID: 29181085 Sep 2017

Navigating the research-clinical interface in genomic medicine: Analysis from the CSER Consortium

Wolf SM, Amendola LM, Berg JS, Chung WK, Clayton EW, Green RC, Harris-Wai J, Henderson GE, Jarvik GP, Koenig BA, Lehmann LS, McGuire AL, O'Rourke P, Somkin C, Wilfond BS and Burke W.

Genetics in Medicine | PMID: 28858330 Aug 2017

The impact of whole-genome sequencing on the primary care and outcomes of healthy adult patients

Vassy JL, Christensen KD, Schonman EF, Blout CL, Robinson JO, Krier JB, Diamond PM, Lebo M, Machini K, Azzariti DR, Dukhovny D, Bates DW, MacRae CA, Murray MF, Rehm HL, McGuire AL, Green RC

Annals of Internal Medicine | PMID: 28654958 Jun 2017

The price of whole-genome sequencing may be decreasing, but who will be sequenced?

Marshall DA, MacDonald KV, Robinson JO, Barcellos LF, Gianfrancesco M, Helm M, McGuire A, Green RC, Douglas MP, Goldman MA, Phillips KA

Personalized Medicine | PMID: 28993792 May 2017

A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories

O’Daniel JM, McLaughlin HM, Amendola LM, Bale SJ, Berg JS, Bick D, Bowling KM, Chao EC, Chung WK, Conlin LK, Cooper GM, Das S, Deignan JL, Dorschner MO, Evans JP, Ghazani AA, Goddard KA, Gornick M, Farwell Hagman KD, Hambuch T, Hegde M, Hindorff LA, Holm IA, Jarvik GP, Knight Johnson A, Mighion L, Morra M, Plon SE, Punj S, Richards CS, Santani A, Shirts BH, Spinner NB, Tang S, Weck KE, Wolf SM, Yang Y, Rehm HL

Genetics In Medicine | PMID: 27811861 May 2017

When bins blur: Patient perspectives on categories of results from clinical whole genome sequencing

Jamal L, Robinson JO, Christensen KD, Blumenthal-Barby J, Slashinski MJ, Lautenbach Perry D, Vassy JL, Wycliff J, Green RC, McGuire AL.

American Journal of Bioethics | PMID: 28949844 Jan 2017

2016

Comprehensive red blood cell and platelet antigen prediction from whole genome sequencing: Proof of principle

Lane WJ, Westhoff CM, Boehler S, Uy JM, Aguad M, Smeland-Wagman R, Kaufman RM, Rehm HL, Green RC, Silberstein LE.

Transfusion | PMID: 26634332 Dec 2016

Who decides and what are people willing-to-pay for whole genome sequencing information?

Marshall DA, Gonzalez JM, Johnson FR, MacDonald KV, Pugh A, Douglas MP, Phillips KA

Genetics In Medicine | PMID: 27253734 Dec 2016

RHD zygosity determination from whole genome sequencing data

Baronas J, Westhoff CM, Vege S, Mah H, Aguad M, Smeland-Wagman R, Kaufman RM, Rehm HL, Silberstein LE, Green RC, Lane WJ, for the MedSeq Project.

Journal of Blood Disorders & Transfusion Sep 2016

Genomic sequencing in clinical practice: Applications, challenges and opportunities

Krier JB, Kalia SS, Green RC

Dialogues in Clinical Neuroscience | PMID: 27757064 Sep 2016

Clinical Sequencing Exploratory Research Consortium: Accelerating the evidence-based practice of genomic medicine

Green RC, Goddard KAB, Jarvik GP, Amendola LM, Appelbaum PS, Berg J S, Bernhardt Biesecker LG, Biswas S, Blout CL, Bowling KM, BrOther KB, Burke W, Caga-anan CF, Chinnaiyan AM, Chung WK, Clayton EW, Cooper GM, East K, Evans JP, Fullerton SM, Garraway LA, Garrett JR, Gray SW, Henderson GE, Hindorff LA, Holm IA, Huckaby Lewis M, Hutter CM, Janne PA, Joffe S, Kaufman D, Knoppers BM, Koenig BA, Krantz ID, et al

American Journal of Human Genetics | PMID: 27181682 Jun 2016

Performance of ACMG/AMP variant interpretation guidelines among nine laboratories in the Clinical Sequencing Exploratory Research consortium

Amendola LM, Jarvik GP, Leo MC, McLaughlin HM, Akkari Y, Amaral MD, Berg JS, Biswas S, Bowling KM, Conlin LK, Cooper GM, Dorschner MO, Dulik MC, Ghazani AA, Ghosh R, Green RC, Hart R, Horton C, Johnston JJ, Lebo MS, Milosavljevic A, Ou J, Pak CM, Patel RY, Punj S, Richards CS, Salama J, Strande NT, Yang Y, Plon SE, Biesecker LG, Rehm HL.

American Journal of Human Genetics | PMID: 27181684 Jun 2016

Commentary: Appropriateness: A key to enabling the use of genomics in clinical practice?

Vassy JL, Bates DW, Murray MF.

American Journal of Medicine | PMID: 26965302 Jun 2016

Patients’ perceived utility of whole-genome sequencing for their healthcare: Findings from the MedSeq Project

Lupo PJ, Robinson JO, Diamond PM, Jamal L, Danysh HE, Blumenthal-Barby J, Lehmann LS, Vassy JL, Christensen KD, Green RC, McGuire AL for the MedSeq Project.

Personalized Medicine | PMID: 27019659 Mar 2016

Participant and study decliners perspectives about the risks of participating in a clinical trial of whole genome sequencing

Robinson JO, Carroll TM, Feuerman LZ, Perry DL, Hoffman-Andrews L, Walsh RC, Christensen KD, Green RC, McGuire AL, for the MedSeq Project.

Journal of Empirical Research on Human Research Ethics | PMID: 26928896 Feb 2016

Toward clinical genomics in everyday medicine: Perspectives and recommendations

Delaney SK, Hultner ML, Jacob HJ, Ledbetter DH, McCarthy JJ, Ball M, Beckman KB, Belmont JW, Bloss CS, Christman MF, Cosgrove A, Damiani SA, Danis T, Delledonne M, Dougherty MJ, Dudley JT, Faucett WA, Friedman JR, Haase DH, Hays TS, Heilsberg S, Huber J, Kaminsky L, Ledbetter N, Lee WH, Levin E, Libiger O, Linderman M, Love RL, Magnus DC, Martland A, McClure SL, Megill SE, Messier H, Nussbaum RL, Palaniappan L, Patay BA, Popovich BW, Quackenbush JF, Savant MJ, Su MM, Terry SF, Tucker S, Wong WT, Green RC

Expert Review of Molecular Diagnostics | PMID: 26810587 Feb 2016

Reclassification of genetic-based risk predictions as GWAS data accumulate

Krier J, Barfield R, Green RC, Kraft P

Genome Medicine | PMID: 26884246 Feb 2016

The changing landscape of molecular diagnostic testing: Implications for academic medical centers

Rehm HL, Hynes E, Funke BH

Journal of Personalized Medicine | PMID: 26828522 Jan 2016

2015

Assessing the costs and cost-effectiveness of genomic sequencing

Christensen KD, Dukhovny D, Siebert U, Green RC

Journal of Personalized Medicine | PMID: 26690481 Dec 2015

‘Someday it will be the norm’: Physician perspectives on the utility of genome sequencing for patient care

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

Personalized Medicine | PMID: 25642274 Nov 2015

Are physicians prepared for whole genome sequencing? A qualitative analysis

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, MedSeq Project Team

Clinical Genetics | PMID: 26080898 Jul 2015

How to know when physicians are ready for genomic medicine

Vassy JL, Korf BR, Green RC

Science Translational Medicine | PMID: 25971999 May 2015

GINA, genetic discrimination, and genomic medicine

Green RC, Lautenbach D, McGuire AL

New England Journal of Medicine | PMID: 25629736 Jan 2015

How behavioral economics can help to avoid ‘The last mile problem’ in whole genome sequencing

Blumenthal-Barby J, McGuire AL, Green RC, Ubel PA.

Genome Medicine | PMID: 25614766 Jan 2015

A one-page summary report of genome sequencing for the healthy adult

Vassy JL, McLaughlin HL, MacRae CA, Seidman CE, Lautenbach D, Krier JB, Lane WJ, Kohane IS, Murray MF, McGuire AL, Rehm HL, Green RC

Public Health Genomics | PMID: 25612602 Jan 2015

2014

A systematic approach to the reporting of medically relevant findings from whole genome sequencing

McLaughlin HM, Ceyhan-Birsoy O, Christensen KD, Kohane IS, Krier JK, Lane WJ, Lautenbach D, Lebo MS, Machini K, MacRae C, Metterville D, Murray MF, Seidman CE, Vassy JL, Green RC, Rehm HL

BMC Medical Genetics | PMID: 25714468 Dec 2014

Summarizing polygenic risks for complex disease in a clinical whole genome report

Kong SW, Lee I-H, Leschiner I, Krier J, Kraft P, Rehm HL, Green RC, Kohane IS, MacRae CA

Genetics in Medicine | PMID: 25341114 Oct 2014

The MedSeq Project: A randomized trial of integrating whole genome sequencing into clinical medicine

Vassy JL, Lautenbach DM, McLaughlin HM, Kong SW, Christensen KD, Krier J, Kohane IS, LZ Feuerman, Blumenthal-Barby J, Roberts JS, Lehmann LS, Ho CY, Ubel PA, MacRae CA, Seidman CE, Murray MF, McGuire AL, Rehm HL, Green RC

Trials | PMID: 24645908 Mar 2014

2013

Processes and preliminary outputs for identification of actionable genes as incidental findings in genomic sequence data in the Clinical Sequencing Exploratory Research Consortium

Berg JS, Amendola LM, Eng C, Van Allen E, Gray SW, Wagle N, Rehm HL, DeChene ET, Dulik MC, Hisama FM, Burke W, Spinner NB, Garraway L, Green RC, Plon S, Evans JP, Jarvik GP, and members of the CSER Actionability and Return of Results Working Group

Genetics in Medicine | PMID: 24195999 Oct 2013