Polygenic risk scores

What a Polygenic Risk Score Can and Can’t Tell You

Harvard Medicine |

August 2024

Press

“Scientists have made great strides in predicting the genetic risk of common diseases. Figuring out what to do with that information may be just as hard.” In this piece from Harvard Medicine, Robert Green, MD, MPH discusses the clinical utility of polygenic risk scores, drawing on his experience returning these results to patients in the … Continued

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

G2P June Newsletter 2024

G2P News |

June 2024

G2P News

Our June newsletter highlights the upcoming International Conference on Newborn Sequencing and several stories from recent trainees! Other updates include two new publications from G2P team members, Sophia Adelson and Anna Lewis. Finally, we give a shout out to the members of our team who will be Running4Research at the upcoming 10K in Boston.

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

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

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

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

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

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 | PMID: 37214512 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

Prioritizing the detection of rare pathogenic variants in population screening

Lacaze P, Manchanda R, Green RC

Nature Reviews Genetics | PMID: 36639513 January 2023

Patient and provider perspectives on polygenic risk scores: Implications for clinical reporting and utilization

Lewis ACF, Perez EF, Prince AER, Flaxman HR, Gomez L, Brockman DG, Chandler PD, Kerman BJ, Lebo MS, Smoller JW, Weiss ST, Zawatsky CLB, Meigs JB, Green RC, Vassy JL, Karlson EW

Genome Medicine October 2022

Performance of EHR classifiers for patient eligibility in a clinical trial of precision medicine

Alexander NVJ, Brunette CA, Guardino ET, Yi T, Kerman BJ, MacIsaac K, Harris EJ, Antwi AA, Vassy JL

Contemporary Clinical Trials September 2022

Atria Institute Vanguard Symposia: The Path to Preventive Genomics

Atria |

May 2022

Video

“In this episode, leading medical geneticist Dr. Robert Green guides listeners through the transformative potential of genomics for personalized medicine, exploring the shift from diagnosing rare conditions to predicting common diseases. He discusses the rise of preventive genomics clinics and how detailed genetic insights can guide medical decisions, including medication selection and dosage. Dr. Green … Continued

Development of clinical polygenic risk score assay and report

Hao L, Kraft P, Berriz G, Hynes ED, Koch C, Kumar PKV, Parpattedar SS, Steeves M, Yu W, Antwi AA, Brunette CA, Danowski M, Gala MK, Green RC, Jones NE, Lewis ACF, Lubitz SA, Natarajan P, Vassy JL, Lebo MS

Nature Medicine | PMID: 35437332 April 2022

The role of SLCO1B1 genotyping in lowering cardiovascular risk

Brunette CA, Vassy JL

Pharmacogenomics July 2021

Polygenic risk scores in the clinic: Translating risk into action

Lewis ACF, Green RC, Vassy JL

Human Genetics and Genomics July 2021

Polygenic risk scores in the clinic: New perspectives needed on familiar ethical issues

Lewis ACF, Green RC

Genome Medicine January 2021

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

Diet and exercise changes following direct-to-consumer personal genomic testing

Nielsen DE, Carere DA, Wang C, Roberts JS, Green RC

BMC Medical Genomics May 2017

Personal genomic testing for cancer risk: Results from the impact of personal genomics (PGen) study

Gray SW, Gollust SE, Carere DA, Chen CA, Cronin A, Kalia SS, Rana HQ, Ruffin MT IV, Wang C, Roberts JS, Green RC

Journal of Clinical Oncology February 2017

A randomized trial examining the impact of communicating genetic and lifestyle risks for obesity

Wang C, Gordon E, Norkunas T, Wawak L, Liu C-T, Winter M, Kasper RS, Christman MF, Green RC, Bowen DJ.

Obesity 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

Genomic sequencing in clinical practice: Applications, challenges and opportunities

Krier JB, Kalia SS, Green RC

Dialogues in Clinical Neuroscience | PMID: 27757064 September 2016

Implications of personal genomic testing for health behaviors: The case of smoking

Olfson E, Hartz S, Carere D, Green RC, Roberts JS, Bierut L.

Nicotine & Tobacco Research July 2016

Consumer perceptions of interactions with primary care providers after direct-to-consumer personal genomic testing

van der Wouden CH, Carere DA, Maitland-van der Zee AH, Ruffin MT, Roberts JS, Green RC for the PGen Study Group.

Annals of Internal Medicine April 2016

Consumers report lower confidence in their genetics knowledge following direct-to-consumer personal genomic testing

Carere DA, Kraft P, Kaphingst KA, Roberts JS, Green RC for the PGen Study Group.

Genetics in Medicine March 2016

Incorporating a genetic risk score into coronary heart disease risk estimates: Effect on LDL cholesterol levels (the MIGENES Clinical Trial)

Kullo I, Jouni H, Austin E, Brown S-A, Kruisselbrink T, Isseh I, Haddad R, Marroush T, Shameer K, Olson J, Broeckel U, Green RC, Schaid D, Montori V, Bailey K.

Circulation February 2016

Reclassification of genetic-based risk predictions as GWAS data accumulate

Krier J, Barfield R, Green RC, Kraft P

Genome Medicine | PMID: 26884246 February 2016

The impact of direct-to-consumer personal genomic testing on perceived risk of breast, prostate, colorectal, and lung cancer: Findings from the PGen study

Carere DA, VanderWeele T, Moreno TA, Mountain JL, Roberts JS, Kraft P, Green RC.

BMC Medical Genomics October 2015

Explaining, not just predicting, drives interest in personal genomics

Meisel SF, Carere DA, Wardle J, Kalia SS, Moreno TA, Mountain JL, Roberts JS, Green RC.

Genome Medicine August 2015

How well do customers of direct-to-consumer personal genomic testing services comprehend genetic test results? Findings from the Impact of Personal Genomics Study

Ostergren JE, Gornick MC, Carere DA, Kalia SS, Uhlmann WR, Ruffin MT, Mountain JL, Green RC, Roberts JS

Public Health Genomics June 2015

Disclosing genetic risk for coronary heart disease: Effects on perceived personal control and genetic counseling satisfaction

Robinson CL, Jouni H, Kruisselbrink TM, Austin EE, Christensen KD, Green RC, Kullo IJ.

Clinical Genetics February 2016

Design, methods, and participant characteristics of the Impact of Personal Genomics (PGen) Study, a prospective cohort study of personal genomics testing customers

Carere DA, Couper MP, Crawford SD, Duggan JR, Moreno TA, Mountain JL, Roberts JS, Green RC.

Genome Medicine December 2014