Key Publications

The BabySeq Project: A clinical trial of genome sequencing in a diverse cohort of infants

Smith HS, Zettler B, Genetti CA, Hickingbotham MR, Coleman TF, Lebo M, Nagy A, Zouk H, Mahanta L, Christensen KD, Pereira S, Shah ND, Gold NB, Walmsley S, Edwards S, Homayouni R, Krasan GP, Hakonarson H, Horowitz CR, Gelb BD, Korf BR, McGuire AL, Holm IA, Green RC

American Journal of Human Genetics September 2024  

The GenoVA study: Equitable implementation of a pragmatic randomized trial of polygenic-risk scoring in primary care

Vassy JL, Brunette CA, Lebo MS, MacIsaac K, Yi T, Danowski ME, Alexander NVJ, Cardellino MP, Christensen KD, Gala M, Green RC, Harris E, Jones NE, Kerman BJ, Kraft P, Kulkarni P, Lewis ACF, Lubitz SA, Natarajan P, Antwi AA

The American Journal of Human Genetics November 2023  

Five Year Follow-Up to BabySeq Project

PMNET Forum |

October 2023

Video

The 2023 Precision Medicine Network (PMNET) Forum was held on October 12-13, 2023 in Riga, Latvia. PMNET’s mission is to improve patient care and outcomes by promoting development and adoption of Precision Medicine. Robert Green gave a talk about the five year follow-up of the BabySeq Project.

The Path to Universal Genomic Medicine

PMNET Forum |

October 2023

Video

The 2023 Precision Medicine Network (PMNET) Forum was held on October 12-13, 2023 in Riga, Latvia. PMNET’s mission is to improve patient care and outcomes by promoting development and adoption of Precision Medicine. Robert Green shared a keynote talk during the introduction of the Forum entitled The Path to Universal Genomic Medicine.

G2P September Newsletter 2023

September 2023

G2P News

This newsletter highlights the International Conference on Newborn Sequencing (ICoNS) that is just around the corner on October 5-6, 2023 in London, UK. It’s not too late to register! Other G2P updates include media coverage of BabySeq1 publications, a new publication from the Sanford Imagenetics team about pharmacogenomics in primary care, and a blog post … Continued

G2P July Newsletter 2023

July 2023

G2P News

In this newsletter we’re excited to announce that the Precision Population Health initiative (PPH) is working with the South Central Foundation (SCF) on a new clinical genomic screening program to improve the health of the Alaska Native population. We are also thrilled to share that registration for the Second Annual International Conference on Newborn Sequencing … Continued

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 | PMID: 37279760 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 | PMID: 34752750 November 2021  

Re-evaluating the “right not to know” in genomics research

Gold NB, Green RC

Genetics in Medicine | PMID: 34906468 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 | PMID: 34113001 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 | PMID: 31256874 June 2019  

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 | PMID: 30224109 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 | PMID: 30133189 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 | PMID: 30600270 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 | PMID: 29565423 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 | PMID: 29300387 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 | PMID: 28654958 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 | 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  

Newborn sequencing in genomic medicine and public health

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