Key Publications

DNA sequencing in newborns reveals years of actionable findings for infants and families

Brigham and Women's Hospital |

June 2023

Press Release

“By screening apparently healthy newborns, entire families were alerted for the first time that dangerous but treatable genetic variants were present,” said corresponding author Robert C. Green, MD, MPH, a physician-scientist at Brigham and Women’s Hospital and professor of genetics at Harvard Medical School, who leads the BabySeq Project. “We were stunned to see that … Continued

Actionability of unanticipated monogenic disease risks in newborn genomic screening: Findings from the BabySeq Project

Green RC, Shah N, Genetti CA, Yu T, Zettler B, Uveges MK, Ceyhan-Birsoy O, Lebo MS, Pereira S, Agrawal PB, Parad RB, McGuire AL, Christensen KD, Schwartz TS, Rehm HL, Holm IA, Beggs AH for the BabySeq Project

American Journal of Human Genetics June 2023

Mass General Brigham-led study finds experts support DNA sequencing in newborns

Mass General Brigham |

May 2023

Press Release

“Findings from a new study led by researchers at Mass General Brigham suggest that rare disease experts are now in favor of more expansive newborn testing. In a study published today in JAMA Network Open, 88 percent of rare disease experts agreed that DNA sequencing to screen for treatable childhood disorders should be made available … Continued

Returning actionable genomic results in a research biobank: Analytic validity, clinical implementation and resource utilization

Blout Zawatsky CL, Shah N, Machini K, Perez E, Christensen KD, Zouk H, Steeves M, Koch C, Uveges M, Shea J, Gold N, Krier J, Boutin N, Mahanta L, Rehm HL, Weiss ST, Karlson EW, Smoller JW, Lebo MS, Green RC

American Journal of Human Genetics November 2021

Polygenic risk scores in the clinic: Translating risk into action

Lewis ACF, Green RC, Vassy JL

Human Genetics and Genomics July 2021

Molecular cancer screening: In search of evidence

Raoof S, Kennedy CJ, Wallach DA, Bitton A, Green RC

Nature Medicine July 2021

Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: A large multi-center cohort study

Haverfield EV, Esplin E, Aguilar S, Hatchell K, Ormond K, Hanson-Kahn A, Atwal P, Macklin-Mantia S, Hines S, Sak C, Tucker S, Bleyl S, Hulick P, Gordon O, Velsher L, Gu J, Weissman S, Kruisselbrink T, Abel C, Kettles M, Slavotinek A, Mendelsohn B, Green RC, Aradhya S, Nussbaum R

BMC Medicine August 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 June 2021

Psychosocial effect of newborn genomic sequencing on families in the BabySeq Project

Pereira S, Smith HS, Frankel LA, Christensen KD, Islam R, Robinson JO, Genetti CA, Zawatsky CLB, Zettler B, Parad RB, Waisbren SE, Beggs AH, Green RC, Holm IA, McGuire AL, BabySeq Project Team

JAMA Pediatrics August 2021

Universal newborn genetic screening for pediatric cancer predisposition syndromes: Model-based insights

Yeh JM, Stout NK, Chaudhry A, Christensen KD, Gooch M, McMahon PM, O'Brien G, Rehman N, Zawatsky CLB, Green RC, Lu CY, Rehm HL, Williams MS, Diller L, Wu AC

Genetics in Medicine March 2021

Airmen and healthcare providers’ attitudes toward the use of genomic sequencing in the US Air Force: Findings from the MilSeq Project

Pereira S, Hsu RL, Islam R, Robinson JO, Ramapriyan R, Sirotich E, Maxwell MD, Majumder M, Blout C, Christensen KD, Mehlman M, Parasidis E, Gardner CL, Killian JM, De Castro M, Green RC, McGuire AL

Genetics in Medicine August 2020

Quantifying downstream health care utilization in studies of genomic testing

Mackay Z, Dukhovny D, Phillips KA, Beggs AH, Green RC, Parad RB, Christensen KD

Value in Health March 2020

Predictive and precision medicine with genomic data

Baudhuin LM, Biesecker LG, Burke W, Green ED, Green RC

Clinical Chemistry January 2020

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 June 2019

Physicians and patient holding roadmap with DNA helix

Genetic testing, insurance discrimination, and medical research: What the US can learn from peer countries

Bélisle-Pipon JC, Vayena E, Green RC, Cohen IG

Nature Medicine August 2019

Parental interest in genomic sequencing of newborns: Enrollment experience from the BabySeq Project

Genetti CA, Schwartz TS, Robinson JO, VanNoy GE, Petersen D, Pereira S, Fayer S, Peoples HA, Agrawal PB, Betting WB, Holm IA, McGuire AL, Waisbren SE, Yu TW, Green RC, Beggs AH, Parad RB

Genetics in Medicine March 2018

Predispositional genome sequencing in healthy adults: Design, participant characteristics, and early outcomes of the PeopleSeq Consortium

Zoltick ES, Linderman MD, McGinniss MA, Ramos E, Ball MP, Church GM, Leonard DGB, Pereira S, McGuire AL, Caskey T, Sanderson SC, Schadt EE, Nielsen DE, Crawford SC, Green RC

Genome Medicine February 2019

Perceived benefits, risks, and utility of newborn genomic sequencing in the BabySeq Project

Pereira S, Robinson JO, Gutierrez AM, Petersen DK, Hsu RL, Lee CH, Schwartz TS, Holm IA, Beggs AH, Green RC, McGuire AL

Pediatrics January 2019

Interpretation of genomic sequencing results in healthy and ill newborns: Results from the BabySeq Project

Ceyhan-Birsoy O, Murry JB, Machini K, Lebo MS, Yu TW, Fayer S, Genetti CA, Schwartz TS, Agrawal PB, Parad RB, Holm IA, McGuire AL, Green RC, Rehm HL, Beggs AH

American Journal of Human Genetics January 2019

The Integrating Pharmacogenetics in Clinical Care (I-PICC) Study: Protocol for a point-of-care randomized controlled trial of statin pharmacogenetics in primary care

Vassy JL, Brunette CA, Majahalme N, Advani S, MacMullen L, Hau C, Zimolzak AJ, Miller SJ

Contemporary Clinical Trials October 2018

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

Christensen KD, Phillips KA, Green RC, Dukhovny D

Value In Health September 2018

Approaches to carrier testing and results disclosure in translational genomics research: The clinical sequencing exploratory research consortium experience

Porter KM, Kauffman TL, Koenig BA, Lewis KL, Rehm HL, Richards CS, Strande NT, Tabor HK, Wolf SM, Yang Y, Amendola LM, Azzariti DR, Berg JS, Bergstrom, Biesecker LG, Biswas S, Bowling KM, Chung WK, Clayton EW, Conlin LK, Cooper GM, Dulik MC, Garraway LA, Ghazani AA, Green RC, Hiatt SM, Jamal SM, Jarvik GP, Goddard KAB, Wilfond BS

Molecular Genetics & Genomic Medicine August 2018

A collaborative translational research framework for evaluating and implementing the appropriate use of human genome sequencing to improve health

Khoury MJ, Feero WG, Chambers DA, Brody LE, Aziz N, Green RC, Janssens ACJW, Murray MF, Rodriguez LL, Rutter JL, Schully SD, Winn Dm, Mensah GA

PLoS Medicine August 2018

Returning a genomic result for an adult-onset condition to the parents of a newborn: Insights from the BabySeq Project

Holm IA, McGuire AL, Pereira S, Rehm HL, Green RC, Beggs AH

Pediatrics January 2019

The BabySeq Project: Implementing genomic sequencing in newborns

Holm IA, Agrawal PB, Ceyhan-Birsoy O, Christensen KD, Fayer S, Frankel LA, Genetti CA, Krier JB, LaMay RC, Levy HL, McGuire AL, Parad RB, Park PJ, Pereira S, Rehm HL, Schwartz TS, Waisbren SE, Yu TW, The BabySeq Project Team, Green RC and Beggs AH

BMC Pediatrics July 2018

Clinical genome sequencing

Green RC, Rehm H, Kohane I: in Ginsburg G, Willard H (eds)

Genomic and Personalized Medicine November 2012

Prenatal DNA sequencing: Clinical, counseling, and diagnostic laboratory considerations

Abou Tayoun AN, Spinner NB, Rehm HL, Green RC, Bianchi DW

Prenatal Diagnostics April 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 March 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 January 2018

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 June 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 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 May 2017

Newborn sequencing in genomic medicine and public health (NSIGHT)

Berg JS, Agrawal PB, Bailey DB, Beggs AH, Brenner SE, Brower AM, Butler I, Caciki J, Birsoy O, Chan K, Chen F, Currier RJ, Duchovny D, Green RC, Harris-Wai J, Holm IA, Iglesias B, Joseph G, Kingsmore SF, Koenig BA, Kwok P, Lantos J, Leeder J, Lewis MA, McGuire AL, Milko LV, Mooney SD, Veeraraghaven N, Parad RB, Pereira S, Petrikin J, Powell BC, Powell CM, Puck JM, Rehm HL, Risch N, Roche M, Shieh JT, Watson MS, Willig L, Yu TW, Urv T, Wise AL

Pediatrics February 2017

A taxonomy of medical uncertainties in clinical genome sequencing

Han PKJ, Umstead KL, Bernhardt BA, Green RC, Joffe S, Koenig B, Krantz I, Waterston LB, Biesecker LG, Biesecker BB

Genetics in Medicine January 2017

A curated gene list for reporting results in newborn genomic sequencing

Ceyhan-Birsoy O, Machini K, Lebo MS, Yu TW, Agrawal PB, Parad RB, Holm IA, McGuire A, Green RC, Beggs AH, Rehm HL, for the BabySeq Project

Genetics in Medicine January 2017

Aggregate penetrance of genomic variants for actionable disorders in European and African Americans

Natarajan P, Gold NB, Bick AG, McLaughlin H, Kraft P, Rehm HL, Peloso GM, Wilson JG, Correa A, Seidman JG, Seidman CE, Kathiresan S, Green RC

Science Translational Medicine November 2016

The impact of personal genomics on risk perceptions and medical decision-making

Krieger JL, Murray F, Roberts JS, Green RC

Nature Biotechnology September 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 June 2016

Personal genome sequencing in ostensibly healthy individuals and the PeopleSeq Consortium

Linderman MD, Nielsen DE, Green RC

Journal of Personalized Medicine March 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 February 2016

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