Publications

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 In Press

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 In Press

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 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 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 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

Helping patients understand multi-cancer early detection tests: a scoping review

Greene MP, Vassy J

Precision Medicine January 2024

Ready or not, genomic screening of fetuses is already here

Gold NB, Nadel A, Green RC

Genetics in Medicine January 2024

2023

Data from a national survey of United States primary care physicians on genetic risk scores for common disease prevention

Brunette CA, Harris EJ, Antwi AA, Lemke AA, Kerman BJ, Vassy JL

Data in Brief December 2023

Combined population genomic screening for three high-risk conditions in Australia: a modelling study

Lacaze P, Marquina C, Tiller J, Brotchie A, Kang Y, Merritt M, Green RC, Watts GF, Nowak KJ, Manchada R, Canfell K, James P, Winship I, McNeil J, Ademi Z

eClinicalMedicine November 2023

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

A second update on mapping the human genetic architecture of COVID-19

The COVID-19 Host Genetics Initiative, Kanai M, Andrews SJ...Green RC...Bircham S, Liggett S, Patil A

Nature September 2023

The Alzheimer’s Disease Neuroimaging Intitiative in the era of Alzheimer’s disease treatment: A review of ADNI studies from 2021 to 2022

Veitch DP, Weiner, MW, Miller M, Aisen PS, Ashford MA, Beckett LA, Green RC, Harvey D, Jack CR Jr., Jagust W, Landau SM, Morris JC, Nho KT, Nosheny R, Okonkwo O, Perrin RJ, Petersen RC, Rivera Mindt M, Saykin A, Shaw LM, Toga AW, Tosun D for the Alzheimer's Disease Neuroimaging Initiative

The Journal of the Alzheimer's Association August 2023

Phenotypes of undiagnosed adults with actionable OTC and GLA variants

Gold JI, Madhavan S, Park J, Zouk H, Perez E, Strong A, Drivas TG, Karaa A, Yudkoff M, Rader D, Regeneron Genetics Center, Penn Medicine BioBank, Green RC, Gold NB

Human Genetics and Genomics Advances July 2023

Attitudes about pharmacogenomic testing vary by healthcare specialty

Preys CL, Blout Zawatsky CL, Massmann A, Van Heukelom J, Green RC, Hajek C, Hickingbotham MR, Zoltick ES, Schultz A, Christensen KD

Pharmacogenomics July 2023

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

SLCO1B1 gene-based clinical decision support reduces statin associated muscle symptom risk with simvastatin

Massmann A, Van Heukelom J, Green RC, Hajek C, Hickingbotham MR, Larson EA, Lu CY, Wu AC, Zoltick ES, Christensen KD, Schultz A

Pharmacogenomics May 2023

Perspectives of rare disease experts on newborn genome sequencing

Gold NB, Adelson SM, Shah N, Williams S, Bick S, Zoltick ES, Gold J, Strong A, Ganetzky R, Roberts A, Walker M, Holtz AM, Sankaran VG, Delmonte O, Tan W, Holm I, Thiagarajah JR, Kamihara J, Comander J, Place E, Wiggs J, Green RC

JAMA Network Open May 2023

An ethical framework for research using genetic ancestry

Lewis ACF, Molina SJ, Appelbaum PS, Dauda B, Fuentes A, Fullerton SM, Garrison NA, Ghosh N, Green RC, Hammonds EM, Jeff JM, Jones DS, Kenny EE, Kraft P, Mauro M, Ori APS, Panofsky A, Sohail M, Neale BM, Allen DS

Perspectives in Biology and Medicine May 2023

Cardiovascular disease risk assessment using traditional risk factors and polygenic risk scores in the Million Veteran Program

Vassy JL, Posner DC, Ho YL, Gagnon DR, Galloway A, Tanukonda V, Houghton SC, Madduri RK, McMahon BH, Tsao PS, Damrauer SM, O’Donnell CJ, Assimes TL, Casas JP, Gaziano JM,Pencina MJ, Sun YV, Cho K, Wilson PWF

JAMA Cardiology May 2023

Public perspective on medications to delay Alzheimer’s disease symptoms

Rich MB, Blout Zawatsky CL, Botta JJ, Christensen KD

Journal of the National Society of Genetic Counselors March 2023

Return of results in genomic research using large-scale or whole genome sequencing: Toward a new normal

Wolf SM, Green RC

The Annual Review of Genomics and Human Genetics March 2023

Perceived benefits and barriers to implementing precision preventive care: Results of a national physician survey

Vassy JL, Kerman BJ, Harris EJ, Lemke AA, Clayman ML, Antwi AA, MacIsaac K, Yi T, Brunette CA

European Journal of Human Genetics February 2023

Primary care physician use of patient race and polygenic risk scores in medical decision-making

Kerman BJ, Brunette CA, Harris EJ, Antwi AA, Lemke AA, Vassy JL

Genetics in Medicine February 2023

Are we prepared to deliver gene‐targeted therapies for rare diseases?

Yu TW, Kingsmore SF, Green RC, MacKenzie T, Wasserstein M, Caggana M, Gold NB, Kennedy A, Kishnani PS, Might M, Brooks PJ, Morris JA, Parisi MA, Urv TK

American Journal of Medical Genetics Part C: Seminars in Medical Genetics January 2023

Physicians and patient holding roadmap with DNA helix

Navigating the uncertainty of precision cancer screening: The role of shared decision-making

Gallagher JH, Vassy JL, Clayman ML

Patient Education and Counseling Innovation January 2023

Ancestry: How researchers use it and what they mean by it

Dauda B, Molina SJ, Allen DS, Fuentes A, Ghosh N, Mauro M, Neale BM, Panofsky A, Sohail M, Zhang SR, Lewis ACF

Frontiers in Genetics January 2023

Prioritizing the detection of rare pathogenic variants in population screening

Lacaze P, Manchanda R, Green RC

Nature Reviews Genetics January 2023

Scientist writing on futuristic Smartboard

The evolving role of medical geneticists in the era of gene therapy: An urgency to prepare

Vockley J, Brunetti-Pierri N, Chung WK, Gold N, Green RC, Kagan S, Moroz T, Schaaf CP, Schulz M, De Baere E

Genetics in Medicine January 2023

Awareness and utilization of genetic testing among Hispanic and Latino adults living in the US: The Hispanic Community Health Study/Study of Latinos

Christensen KD, Zhang M, Galbraith LN, Granot-Hershkovitz E, Nelson SC, Gonzalez S, Argos M, Perreira KM, Daviglus ML, Isasi CR, Cai J, Talavera GA, Blout Zawatsky CL, Green RC, Isasi R, Kaplan R, Sofer T

Human Genetics and Genomics Advances January 2023

Returning integrated genomic risk and clinical recommendations: The eMERGE study

Linder JE, Allworth A, Bland HT, Caraballo PJ, Chisholm RL, Clayton EW, Crosslin DR, Dikilitas O, DiVietro A, Esplin ED, Forman S, Freimuth RR, Gordon AS, Green R, Harden MV, Holm IA, Jarvik GP, Karlson EW, Labrecque S, Lennon NJ, Limdi NA, Mittendorf KF, Murphy SN, Orlando L, Prows CA, Rasmussen LV, Rasmussen-Torvik L, Rowley R, Sawicki KT, Schmidlen T, Terek S, Veenstra D, Velez Edwards DR, Absher D, Abul-Husn NS, Alsip J, Bangash H, Beasley M, Below JE, Berner ES, Booth J, Chung WK, Cimino JJ, Connolly J, Davis P, Devine B, Fullerton SM, Guiducci C, Habrat ML, Hain H, Hakonarson H, Harr M, Haverfield E, Hernandez V, Hoell C, Horike-Pyne M, Hripcsak G, Irvin MR, Kachulis C, Karavite D, Kenny EE, Khan A, Kiryluk K, Korf B, Kottyan L, Kullo IJ, Larkin K, Liu C, Malolepsza E, Manolio TA, May T, McNally EM, Mentch F, Miller A, Mooney SD, Murali P, Mutai B, Muthu N, Namjou B, Perez EF, Puckelwartz MJ, Rakhra-Burris T, Roden DM, Rosenthal EA, Saadatagah S, Sabatello M, Schaid DJ, Schultz B, Seabolt L, Shaibi GQ, Sharp RR, Shirts B, Smith ME, Smoller JW, Sterling R, Suckiel SA, Thayer J, Tiwari HK, Trinidad SB, Walunas T, Wei WQ, Wells QS, Weng C, Wiesner GL, Wiley K, eMERGE Consortium, Peterson JF

Genetics in Medicine January 2023

Elective genomic testing: Practice resource of the National Society of Genetic Counselors

Zawatsky CLB, Bick D, Bier L, Funke B, Lebo M, Lewis KL, Orlova E, Qian E, Ryan L, Schwartz MLB, Soper ER

Journal of Genetic Counseling January 2023

Moving away from one disease at a time: Screening, trial design, and regulatory implications of novel platform technologies

Lekstrom-Himes J, Brooks PJ, Koeberl DD, Brower A, Goldenberg A, Green RC, Morris JA, Orsini JJ, Yu TW, Augustine EF

American Journal of Medical Genetics January 2023

2022

Parents’ decision-making regarding whether to receive adult-onset only genetic findings for their children: Findings from the BabySeq Project

Pereira S, Gutierrez AM, Robinson JO, Christensen KD, Genetti CA, Zawatsky CLB, Hsu RL, Zettler B, Uveges MK, Parad RB, Beggs AH, Holm IA, Green RC, McGuire AL for The BabySeq Project Team

Genetics in Medicine December 2022

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2023

2022

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