Publications

2026

Genomic newborn screening: A scoping review of the field’s evolution and associated ethical, legal, and social implications

Brown GL, Walker L, Afolabi MA, Bain PA, Bonilha A, Chaudhari BP, Christodoulou J, Dai Z, Friedman JM, Gaviglio A, Green RC, Jagu S, Knoppers BM, Newson AJ, Stark Z, Vears DF, Wilson A, Bombard, Lewis ACF

European Journal of Human Genetics In Press

Genetic findings and healthcare utilization among individuals undergoing population genomic screening for actionable hereditary disorders

Ekstein T, Aguilar S, Russell EM, Ellsworth RE, Christensen KD, Hulick P, Green RC, Nussbaum R, Aradhya S, Garcia J

Genetics in Medicine In Press

Selection of genetic conditions for multi-state genomic newborn screening in BEACONS-NBS

Gold NB, Johnson BA, Somanchi H, Minten T, Coury SA, Blout Zawatsky CL, Begtrup A, Butler E, Langley KG, Zimmerman R, McLaughlin HM, Ellefson T, Kern A, Rehm HL, Bick D, Brenner SE, Kasperaviciute D, Abraham RS, Aksentijevich I, Babinski M, Billington Jr. CJ, Butte MJ, Canna SW, Caron M, Chan YM, Chandrakasan S, Chiang SCC, Delmonte OMM, Diller LR, Downie L, Fleischer J, Fulton A, Ganetzky RD, Gold J, Goldbach-Mansky R, Grunebaum E, Hale RC, Hamosh A, Hildebrandt F, Holtz AM, Jacobsen C, Kan MJ, Kitcharoensakkul M, Kodyte V, Kreienkamp RJ, Lennerz BS, Lin AE, Madduri AV, Majzoub JA, Marsh RA, Miller DT, Milner JD, Mitchell DM, Murray B, Notarangelo LD, Peng XP, Place EM, Platt CD, Plon SE, Plotkin SR, Powell CM, Puck JM, Roberts AE, Sankaran VG, Schwartz DM, Seroogy CM, Srinath S, Strong A, Sullivan KE, Tan W, Tarrant TK, Thiagarajah JR, Walker MA, Wassner AJ, Bolanos HZ, The BEACONS-NBS team, Gaviglio AM, Bonhomme N, Ojodu J, Singh S, Zarbalian G, Pereira S, Goldenberg AJ, Holm IA, Wasserstein MP, Green RC

medRxiv In Press

Designing inclusive newborn sequencing research: Insights from parents in underrepresented communities

Del Rosario MC, Walmsley SA, Harrison BW, Stephens CT, Zettler B, Rivera-Cruz G, Agrawal P, Brower A, Chigbu S, Christensen KD, Genetti CA, Givens R, Gold NB, Reeves IV, Schichter I, Shariat H, Simon S, Smith HS, Uveges M, Green RC, Holm IA, Pereira S

BMC Medical Genetics March 2026

Navigating ethical, legal and social implications in genomic newborn screening

Lewis ACF, Brown G, The GA4GH Working Group on genomic newborn screening, Bombard Y

Nature Reviews Genetics February 2026

Genomic risk model to implement precision prostate cancer screening in clinical care: theProGRESS study

Vassy JL, Dornisch AM, Karunamuni R, Gatzen M, Kachulis CJ, Lennon NJ, Brunette CA, Danowski ME, Hauger RL, Garraway IP, Kibel AS, Lee KM, Lynch JA, Maxwell KN, Ratner D, Rose BS, Teerlink CC, Xu GJ, Hofherr SE, Lafferty KA, Larkin K, Malolepsza E, Patterson CJ, Toledo DM, Donovan JL, Hamdy FC, Martin RM, Neal DE, Turner EL, Andreassen OA, Dale AM, Mills IG, Abraham A, Batra J, Clements J, Cussenot O, Cybulski C, Eeles RA, Fowke JH, Grindedal EM, Grönberg H, Hamilton RJ, Lim J, Lu YJ, MacInnis RJ, Maier C, Mucci LA, Multigner L, Neuhausen SL, Nielsen SF, Parent MÉ, Park JY, Petrovics G, Plym A, Razack A, Rosenstein BS, Schleutker J, Sørensen KD, Townsend PA, Travis RC, Vega A, West CML, Wiklund F, Zheng W, Seibert TM, Profile SteeringCommittee, IMPACT Study Steering Committee and Collaborators, PRACTICAL Consortium, VA Million VeteranProgram, Seiber TM

Nature Cancer January 2026

Opportunistic genomic screening for familial hypercholesterolemia to improve low-density lipoprotein cholesterol – A randomized clinical trial

Vassy JL, Brunette CA, Yi T, Assimes TL, Christensen KD, Knowles JW, Sturm AC, Sun YV, Alexander N, Cardellino MP, Harrison A, Gerety HL, Pyatt M, Vered R, Wilson PWF, Natarajan P, Whitbourne SB, Gaziano JM, Muralidhar S, Danowski ME

JAMA January 2026

Feasibility and outcomes of the DNA Screen nationwide adult genomic screening pilot

Lacaze P, Tiller J, Brotchie A, Nguyen-Dumont T, Steen J, Belluccio D, Young M, Willis A, Mitchell LA, Nowak KJ, Burns B, Horton AE, Nicholls SJ, Ademi Z, Green RC, Manchanda R, Thompson BA, Thomas D, Milne RL, Bruinsma Delatycki MB, Pang J, Watts GF, Macrae F, Oiolawski N, Kirk J, Tucker K, Andrews L, Wallis M, Rusman R, Pachter N, Sullivan D, Ragunathan A, James P, Zalcberg J, McNeil JJ, Southey MC, Winship I

Nature Health January 2026

2025

Racial and socioeconomic disparities in genetic evaluation and testing in the adult patient population

Gold JI, Elkaim Y, Gold NB, Asher S, Raper A, Condit C, Bogus Z, Elysee I, Hennessy L, Kennedy E, Briere LC, Sweetser DA, Kripke C, Verma A, Salmasian H, Landry L, Nathanson KL, Kallish S, Drivas TG

AJHG December 2025

Genetics and context for precision health in Greater Boston

Natarajan P, Koyama S, Wang Y, Paruchuri K, Uddin MM, Cho SM, Urbut S, Sui Y, Fahed A, Kamineni H, Haidermota S, Hornsby W, Green RC, Daly M, Neale B, Ellinor P, Smoller J, Slaugenhaupt S, Lebo M, Karlson E, Martin A

Nature Communications November 2025

A lack of information about family health history motivates adopted individuals to pursue elective genomic testing

Hickingbotham MR, Bell M, Zoltick ES, Platt D, Leonhard JR, Hajek C, Green RC, Smith HS, Christensen KD

American Journal of Medical Genetics November 2025

Operationalizing the Wilson-Jungner principles for the genomics era: Consensus recommendations from the International Consortium on Newborn Sequencing

Downie L, Yeo J, Minten T, Heald R, Ansel D, Baker M, Balciuniene J, Berg JS, Boemer F, Chung WK, Cope HL, Eckstein DJ, Encina N, Faivre L, Ferlini A, García-Villoria J, Gelb MH, Aledo-Castillo, JMG Golden-Grant K, Parad RB, Shah N, Stark Z, Sund KL, Tsipouras P, To M, Bick D, Green RC, ICONS, Gold NB

Genetics in Medicine October 2025

Governance strategies for biological AI: Beyond the dual-use dilemma

Lu AB, Lewis AFC

Trends in Biotechnology October 2025

Are inherited metabolic disorders more common and less predictable than we thought?

Gold NB, Strong A, Somanchi H, Gold J

Journal of Inherited Metabolic Diseases September 2025

Primary care providers’ perspectives on receiving opportunistic genomic results from a national study: The Million Veteran Program Return Of Actionable Results (MVP-ROAR) Study

Johannsen AL, Danowski ME, Sitter KE, Preys CL, Gerety HL, Brunette CA, Christensen KD, Gaziano JM, Knowles JW, Muralidhar S, Sturm AC, Sun YV, Whitbourne SB, Yi T, The VA Million Veteran Program, Vassy J

Genetics in Medicine June 2025

Data-driven consideration of genetic disorders for global genomic newborn screening programs

Minten T, Bick S, Adelson S, Gehlenborg N, Amendola LM, Boemer F, Coffey AJ, Encina N, Ferlini A, Kirschner J, Russell BE, Servais L, Sund KL, Taft RJ, Tsipouras P, Zouk H, ICoNS Gene List Contributors, Bick D, the International Consortium on Newborn Sequencing (ICoNS), Green RC, Gold NB

Genetics in Medicine May 2025

Nonadherence to guidelines for genetic testing in families with ovarian cancer shows racial bias

Omorodion JO, Nathan A, Lipsitz S, Koyama S, Perez E, Green RC, Natarajan P, Gold NB

Genetics In Medicine April 2025

Advancing precision care in pregnancy through a treatable fetal findings list

Cohen JL, Duyzend M, Adelson SM, Yeo J, Fleming M, Ganetzky R, Hale R, Mitchell DM, Morton SU, Reimers R, Roberts A, Strong A, Tan W, Thiagarajah JR, Walker MA, Green RC, Gold NB

American Journal of Human Genetics April 2025

Preferences of parents from diverse backgrounds on genomic screening of apparently healthy newborns

Gold NB, Omorodion JO, del Rosario MC, Rivera-Cruz G, Hsu CY, Ziniel SI, Holm IA

Journal of Genetic Counseling April 2025

Critical bottlenecks in rare disease research and care: A community perspective

McMurry J, Sizer A, Allaway R, Boerkoel C, Chen AJ, Colquitt J, Cummings J, Dutta A, Fitter N, Green RC, Hanson A, Harker E, Harris N, Hovinga C, Kahn A, Keil H, Kessler R, Lange L, Loaiza-Bonilla A, Luchkina N, Luellen E, Movaghar A, Pastinen T, Rountree E, Rudrapatna V, Sand A, Schmolly K, Short P, Sirota M, Siwo G, Tatonetti N, Vidra N, Vij F, Volchenboum S, Walden A, Walls RL, Washington P, Wenzlau D, Wenzlau M, Wheeler M, Son Rigby C, Haendel M

Zenodo February 2025

Longitudinal evaluation of genetic hypertrophic cardiomyopathy penetrance and transition to disease in an academic biobank

Shin JY, Small A, Blout Zawatsky CL, Fifer M, Tower-Rader A, Green RC, Lebo M, Natarajan P

JACC: Advances January 2025

2024

Family genetic risk communication and cascade testing in the BabySeq Project

Uveges MK, Smith HS, Pereira S, Genetti C, McGuire AL, Beggs AH, Green RC, Holm IA

Genetics in Medicine December 2024

Overview of Alzheimer’s Disease Neuroimaging Initiative and future clinical trials

Weiner MW, Kanoria S, Miller MJ, Aisen PS, Beckett LA, Conti C, Diaz A, Flenniken D, Green RC, Harvey DJ, Jack CR, Jagust W, Lee EB, Morris JC, Nho K, Nosheny R, Okonkwo OC, Perrin PJ, Petersen RC, Rivera-Mindt M, Saykin AJ, Shaw LM, Toga AW, Tosun D, Veitch DP, for the Alzheimer's Disease Neuroimaging Intitiative

Alzheimer's and Dementia December 2024

Long-term health outcomes of individuals with pseudodeficiency alleles in IDUA may inform newborn screening practices for mucopolysaccharidosis type I

O'Grady L, Zoltick ES, Zouk H, He W, Perez E, Clarke L, Gold J, Strong A, Sahai I, Green RC, Karaa Amel, Gold NB

American Journal of Medical Genetics: Part A November 2024

The ADNI Administrative Core: Ensuring ADNI’s success and informing future AD clinical trials

Nosheny RL, Miller M, Conti C, Flenniken D, Ashford M, Diaz A, Fockler J, Truran D, Kwang W, Kanoria S, Veitch D, Green RC, Weiner MW for the Alzheimer's Disease Neuroimaging Initiative

Alzheimer's and Dementia November 2024

Genomic analysis of intracranial and subcortical brain volumes yields polygenic scores accounting for variation across ancestries

Garcia-Marin LM, Campos AI, Diaz-Torres S, .....Green RC....Satizabal CL, Medland SE, Renteria ME

Nature Genetics October 2024

Estimating the sensitivity of genomic newborn screening for treatable inherited metabolic disorders

Bick SL, Nathan A, Park H, Green RC, Wojcik MH, Gold N

Genetics in Medicine September 2024

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

Defining and pursuing diversity in human genetic studies

Raven-Adams MC, Hernandez-Boussard T, Joly Y, Knoppers BM, Chandrasekharan S, Thorogood A, Kumuthini J, Loon Ho CW, Gonzalez A, Nelson SC, Bombard Y, Thaldar D, Liu H, Costa A, Muralidharan V, Henriques S, Nasir J, Lumaka A, Kaiser B, Jamuar SS, Lewis ACF

Nature Genetics September 2024

Genetic counselors’ perspectives on genomic screening of apparently healthy newborns

del Rosario MC, Swenson KB, Coury S, Schwab J, Green RC, Gold NB

Genetics in Medicine Open August 2024

Primary care providers’ experiences with an active elective genetic testing program

Platt DM, Blout Zawatsky CL, Christensen KD, Green RC, Hajek CH, Hickingbotham MR, Hutchinson AM, LeBlanc JL, Zoltick ES, Jamal L

Journal of Health Education and Behavior | PMID: 39081055 July 2024

Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program

Verma A, Huffman JE, Rodriguez A, Conery M, Liu M, Ho Y, Kim Y, Heise DA, Guare L, Panickan VA, Garcon H, Linares F, Costa L, Goethert I, Tipton R, Honerlaw J, Davies L, Whitebourne S, Cohen J, Posner DC, Sangar R, Murrary M, Wang X, Dochtermann DR, Devineni P, Shi Y, Nandi TN, Assimes TL, Brunette CA, Carroll RJ, Clifford R, Duvall S, Gelernter J, Hung A, Iyengar SK, Joseph J, Kember R, Kranzler H, Kripke CM, Levey D, Luoh S, Merritt VC, Overstreet C, Deak JD, Grant SFA, Polimanti R, Roussos P, Shakt G, Sun YV, Tsao N, Venkatesh S, Voloudakis G, Justice A, Begoli E, Ramoni R, Tourassi G, Pyarajan S, Tsao P, O'Donnell CJ, Muralidhar S, Moser J, Casas JP, Bick AG, Zhou W, Cai T, Voight BF, Cho K, Gaziano JM, Madduri RK, Damrauer S, Liao KP

Science July 2024

Attitudes, knowledge, and risk perceptions of patients who received elective genomic testing as a clinical service

Zoltick ES, Bell M, Hickingbotham MR, Wu AC, Galbraith LN, LeBlanc JL, Lu CY, Leonhard JR, Platt DM, Smith HS, Green RC, Hajek C, Christensen KD

Genetics in Medicine | PMID: 38943480 June 2024

Health-literate care organizations for precision health

Vassy JL, Scheuner MT, Clayman ML

Genetics in Medicine | PMID: 38907621 June 2024

Managing differential performance of polygenic risk scores across groups: real-world experience of the eMERGE Network

Lewis ACF, Chisholm RL, Connolly JJ, Esplin ED, Glessner J, Gordon A, Green RC, Hakonarson H, Harr M, Holm IA, Jarvik GP, Karlson B, Kenny EE, Kottyan L, Lennon N, Linder JE, Luo Y, Martin L, Perez E, Puckelwartz MJ, Rasmussen-Torvik LJ, Sabatello M, Sharp RR, Smoller JW, Sterling R, Terek S, Wei W, Fullerton SM

The American Journal of Human Genetics June 2024

Evaluating the utility of multi-gene, multi-disease population-based panel testing accounting for uncertainty in penetrance estimates

Liang JW, Christensen KD, Green RC, Kraft P

npj Genomic Medicine May 2024

Familial communication and cascade testing following elective genomic testing

Adelson SM, Blout Zawatsky CL, Hickingbotham MR, Bell ME, Platt DM, Leonhard JR, Zoltick ES, Hajek CA, Green RC, Christensen KD

Journal of Genetic Counseling | PMID: 38757439 May 2024

Development and utility of a clinical research informatics application for participant recruitment and workflow management for a return of results pilot trial in familial hypercholesterolemia in the Million Veteran Program

Brunette CA, Yi T, Danowski ME, Cardellino M, Harrison A, Assimes TL, Knowles JW, Christensen KD, Sturm AC, Sun YV, Hui Q, Pyarajan S, Shi Y, Whitbourne SB, Gaziano JM, Muralidhar S, Vassy JL

Journal of the American Medical Informatics Association | PMID: 38464744 March 2024

Clinical impact of preemptive pharmacogenomic testing on antiplatelet therapy in a real-world setting

Massmann A, Christensen KD, Van Heukelom J, Schultz A, Shaukat MHS, Hajek C, Weaver M, Green RC, Wu AC, Hickingbotham MR, Zoltick ES, Stys A, Stys TP

European Journal of Human Genetics | PMID: 38424298 February 2024

Processes and outcomes from a clinical genetics e-consultation service managed by a primary care physician champion

Kerman J, Zawatsky CBL, Fieg E, Frank NY, Donnelly RS, Green RC, Kennedy JC, Lakdawala Neal, Licurse AM, Perez EF, Preys CL, Krier JB, Rana HQ, Zettler B, Vassy JL

Genetics in Medicine Open February 2024

2026

2025

2024

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