Models of communication for polygenic scores and associated psychosocial and behavioral effects on recipients: A systematic review

Published:November 02, 2022DOI:



      This study aimed to systematically review current models for communicating polygenic scores (PGS) and psycho-behavioral outcomes of receiving PGSs.


      Original research on communicating PGSs and reporting on psycho-behavioral outcomes was included. Search terms were applied to 5 databases and were limited by date (2009-2021).


      In total, 28 articles, representing 17 studies in several disease settings were identified. There was limited consistency in PGS communication and evaluation/reporting of outcomes. Most studies (n = 14) presented risk in multiple ways (ie, numerically, verbally, and/or visually). Three studies provided personalized lifestyle advice and additional resources. Only 1 of 17 studies reported using behavior change theory to inform their PGS intervention. A total of 8 studies found no evidence of long-term negative psychosocial effects up to 12 months post result. Of 14 studies reporting on behavior, 9 found at least 1 favorable change after PGS receipt. When stratified by risk, 7 out of 9 studies found high PGS was associated with favorable changes including lifestyle, medication, and screening. Low-risk PGS was not associated with maladaptive behaviors (n = 4).


      PGS has the potential to benefit health behavior. High variability among studies emphasizes the need for developing standardized guidelines for communicating PGSs and evaluating psycho-behavioral outcomes. Our findings call for development of best communication practices and evidence-based interventions informed by behavior change theories.


      To read this article in full you will need to make a payment

      Purchase one-time access:

      Academic & Personal: 24 hour online accessCorporate R&D Professionals: 24 hour online access
      One-time access price info
      • For academic or personal research use, select 'Academic and Personal'
      • For corporate R&D use, select 'Corporate R&D Professionals'

      ACMG Member Login

      Are you an ACMG Member? Sign in for online access.


      Subscribe to Genetics in Medicine
      Already a print subscriber? Claim online access
      Already an online subscriber? Sign in
      Institutional Access: Sign in to ScienceDirect


        • Yanes T.
        • McInerney-Leo A.M.
        • Law M.H.
        • Cummings S.
        The emerging field of polygenic risk scores and perspective for use in clinical care.
        Hum Mol Genet. 2020; 29: R165-R176
        • Wand H.
        • Lambert S.A.
        • Tamburro C.
        • et al.
        Improving reporting standards for polygenic scores in risk prediction studies.
        Nature. 2021; 591: 211-219
        • Polygenic Risk Score Task Force of the International Common Disease Alliance
        Responsible use of polygenic risk scores in the clinic: potential benefits, risks and gaps.
        Nat Med. 2021; 27: 1876-1884
        • Brockman D.G.
        • Petronio L.
        • Dron J.S.
        • et al.
        Design and user experience testing of a polygenic score report: a qualitative study of prospective users.
        BMC Med Genomics. 2021; 14: 238
      1. Lee A, Mavaddat N, Wilcox AN, et al. BOADICEA: a comprehensive breast cancer risk prediction model incorporating genetic and nongenetic risk factors. Genet Med. 2019;21(8):1708-1718. Published correction appears in Genet Med. 2019;21(6):1462.

        • Horne J.
        • Madill J.
        • O’Connor C.
        • Shelley J.
        • Gilliland J.
        A systematic review of genetic testing and lifestyle behaviour change: are we using high-quality genetic interventions and considering behaviour change theory?.
        Lifestyle Genomics. 2018; 11: 49-63
        • Michie S.
        • van Stralen M.M.
        • West R.
        The COM-B model of behaviour. Social Change UK. Published 2019.
        • Michie S.
        • van Stralen M.M.
        • West R.
        The behaviour change wheel: a new method for characterising and designing behaviour change interventions.
        Implement Sci. 2011; 6: 42
        • Yanes T.
        • Willis A.M.
        • Meiser B.
        • Tucker K.M.
        • Best M.
        Psychosocial and behavioral outcomes of genomic testing in cancer: a systematic review.
        Eur J Hum Genet. 2019; 27: 28-35
        • Tricco A.C.
        • Lillie E.
        • Zarin W.
        • et al.
        PRISMA extension for scoping reviews (PRISMA-ScR): checklist and explanation.
        Ann Intern Med. 2018; 169: 467-473
        • Evans D.M.
        • Visscher P.M.
        • Wray N.R.
        Harnessing the information contained within genome-wide association studies to improve individual prediction of complex disease risk.
        Hum Mol Genet. 2009; 18: 3525-3531
        • Kmet L.M.
        • Lee R.C.
        • Cook L.S.
        HTA initiative #13. Standard quality assessment criteria for evaluating primary research papers from a variety of fields.
        Alberta Heritage Foundation for Medical Research (AHFMR), 2004
        • Rodgers M.
        • Sowden A.
        • Petticrew M.
        • et al.
        Testing methodological guidance on the conduct of narrative synthesis in systematic reviews: effectiveness of interventions to promote smoke alarm ownership and function.
        Evaluation. 2009; 15: 49-73
        • Smit A.K.
        • Espinoza D.
        • Newson A.J.
        • et al.
        A pilot randomized controlled trial of the feasibility, acceptability, and impact of giving information on personalized genomic risk of melanoma to the public.
        Cancer Epidemiol Biomarkers Prev. 2017; 26: 212-221
        • Smit A.K.
        • Allen M.
        • Beswick B.
        • et al.
        Impact of personal genomic risk information on melanoma prevention behaviors and psychological outcomes: a randomized controlled trial.
        Genet Med. 2021; 23: 2394-2403
        • Yanes T.
        • Meiser B.
        • Kaur R.
        • et al.
        Breast cancer polygenic risk scores: a 12-month prospective study of patient reported outcomes and risk management behavior.
        Genet Med. 2021; 23: 2316-2323
        • Young M.A.
        • Forrest L.E.
        • Rasmussen V.M.
        • et al.
        Making sense of SNPs: women’s understanding and experiences of receiving a personalized profile of their breast cancer risks.
        J Genet Couns. 2018; 27: 702-708
        • Widén E.
        • Junna N.
        • Ruotsalainen S.
        • et al.
        How communicating polygenic and clinical risk for atherosclerotic cardiovascular disease impacts health behavior: an observational follow-up study.
        Circ Genom Precis Med. 2022; 15e003459
        • Bancroft E.K.
        • Castro E.
        • Ardern-Jones A.
        • et al.
        “It’s all very well reading the letters in the genome, but it’s a long way to being able to write”: men’s interpretations of undergoing genetic profiling to determine future risk of prostate cancer.
        Fam Cancer. 2014; 13: 625-635
        • Hartz S.M.
        • Olfson E.
        • Culverhouse R.
        • et al.
        Return of individual genetic results in a high-risk sample: enthusiasm and positive behavioral change.
        Genet Med. 2015; 17: 374-379
        • Godino J.G.
        • van Sluijs E.M.F.
        • Marteau T.M.
        • Sutton S.
        • Sharp S.J.
        • Griffin S.J.
        Lifestyle advice combined with personalized estimates of genetic or phenotypic risk of type 2 diabetes, and objectively measured physical activity: a randomized controlled trial.
        PLoS Med. 2016; 13e1002185
        • Kullo I.J.
        • Jouni H.
        • Austin E.E.
        • et al.
        Incorporating a genetic risk score into coronary heart disease risk estimates: effect on low-density lipoprotein cholesterol levels (the MI-GENES Clinical Trial).
        Circulation. 2016; 133: 1181-1188
        • Knowles J.W.
        • Zarafshar S.
        • Pavlovic A.
        • et al.
        Impact of a genetic risk score for coronary artery disease on reducing cardiovascular risk: A pilot randomized controlled study.
        Front Cardiovasc Med. 2017; 4: 53
        • Putt S.
        • Yanes T.
        • Meiser B.
        • et al.
        Exploration of experiences with and understanding of polygenic risk scores for bipolar disorder.
        J Affect Disord. 2020; 265: 342-350
        • Yanes T.
        • Kaur R.
        • Meiser B.
        • et al.
        Women’s responses and understanding of polygenic breast cancer risk information.
        Fam Cancer. 2020; 19: 297-306
        • Carere D.A.
        • VanderWeele T.
        • Moreno T.A.
        • et al.
        The impact of direct-to-consumer personal genomic testing on perceived risk of breast, prostate, colorectal, and lung cancer: findings from the PGen study.
        BMC Med Genomics. 2015; 8: 63
        • Nielsen D.E.
        • Carere D.A.
        • Wang C.
        • Roberts J.S.
        • Green R.C.
        • PGen Study Group
        Diet and exercise changes following direct-to-consumer personal genomic testing.
        BMC Med Genomics. 2017; 10: 24
        • Gray S.W.
        • Gollust S.E.
        • Carere D.A.
        • et al.
        Personal genomic testing for cancer risk: results from the impact of personal genomics study.
        J Clin Oncol. 2017; 35: 636-644
        • Peck L.
        • Borle K.
        • Folkersen L.
        • Austin J.
        Why do people seek out polygenic risk scores for complex disorders, and how do they understand and react to results?.
        Eur J Hum Genet. 2022; 30: 81-87
        • Grant R.W.
        • O’Brien K.E.
        • Waxler J.L.
        • et al.
        Personalized genetic risk counseling to motivate diabetes prevention: a randomized trial.
        Diabetes Care. 2013; 36: 13-19
        • Smit A.K.
        • Keogh L.A.
        • Newson A.J.
        • et al.
        Does personalized melanoma genomic risk information trigger conversations about skin cancer prevention and skin examination with family, friends and health professionals?.
        Br J Dermatol. 2017; 177: 779-790
        • Olfson E.
        • Hartz S.
        • Carere D.A.
        • et al.
        Implications of personal genomic testing for health behaviors: the case of smoking.
        Nicotine Tob Res. 2016; 18: 2273-2277
        • Smit A.K.
        • Newson A.J.
        • Best M.
        • et al.
        Distress, uncertainty, and positive experiences associated with receiving information on personal genomic risk of melanoma.
        Eur J Hum Genet. 2018; 26: 1094-1100
        • Fenton G.L.
        • Smit A.K.
        • Freeman L.
        • et al.
        Development and evaluation of a telephone communication protocol for the delivery of personalized melanoma genomic risk to the general population.
        J Genet Couns. 2018; 27: 370-380
        • Jouni H.
        • Haddad R.A.
        • Marroush T.S.
        • et al.
        Shared decision-making following disclosure of coronary heart disease genetic risk: results from a randomized clinical trial.
        J Investig Med. 2017; 65: 681-688
        • Robinson C.L.
        • Jouni H.
        • Kruisselbrink T.M.
        • et al.
        Disclosing genetic risk for coronary heart disease: effects on perceived personal control and genetic counseling satisfaction.
        Clin Genet. 2016; 89: 251-257
        • Willis A.M.
        • Smith S.K.
        • Meiser B.
        • et al.
        Influence of lived experience on risk perception among women who received a breast cancer polygenic risk score: ‘another piece of the pie.’.
        J Genet Couns. 2021; 30: 849-860
        • Forrest L.E.
        • Sawyer S.D.
        • Hallowell N.
        • James P.A.
        • Young M.A.
        High-risk women’s risk perception after receiving personalized polygenic breast cancer risk information.
        J Community Genet. 2019; 10: 197-206
        • Fenton G.L.
        • Smit A.K.
        • Keogh L.
        • Cust A.E.
        Exploring the emotional and behavioural reactions to receiving personalized melanoma genomic risk information: a qualitative study.
        Br J Dermatol. 2019; 180: 1390-1396
        • Smit A.K.
        • Reyes-Marcelino G.
        • Keogh L.
        • Dunlop K.
        • Newson A.J.
        • Cust A.E.
        Implementation considerations for offering personal genomic risk information to the public: A qualitative study.
        BMC Public Health. 2020; 20: 1028
        • Bancroft E.K.
        • Castro E.
        • Bancroft G.A.
        • et al.
        The psychological impact of undergoing genetic-risk profiling in men with a family history of prostate cancer.
        Psychooncology. 2015; 24: 1492-1499
        • Yanes T.
        • Young M.A.
        • Meiser B.
        • James P.A.
        Clinical applications of polygenic breast cancer risk: a critical review and perspectives of an emerging field.
        Breast Cancer Res. 2020; 22: 21
        • Das Gupta K.
        • Gregory G.
        • Meiser B.
        • et al.
        Communicating polygenic risk scores in the familial breast cancer clinic.
        Patient Educ Couns. 2021; 104: 2512-2521
        • Edwards A.
        • Gray J.
        • Clarke A.
        • et al.
        Interventions to improve risk communication in clinical genetics: systematic review.
        Patient Educ Couns. 2008; 71: 4-25
        • Zipkin D.A.
        • Umscheid C.A.
        • Keating N.L.
        • et al.
        Evidence-based risk communication: A systematic review.
        Ann Intern Med. 2014; 161: 270-280
        • Lautenbach D.M.
        • Christensen K.D.
        • Sparks J.A.
        • Green R.C.
        Communicating genetic risk information for common disorders in the era of genomic medicine.
        Annu Rev Genomics Hum Genet. 2013; 14: 491-513
        • Davis K.W.
        • Roter D.L.
        • Schmidlen T.
        • Scheinfeldt L.B.
        • Klein W.M.P.
        Testing a best practices risk result format to communicate genetic risks.
        Patient Educ Couns. 2021; 104: 936-943
        • Kohler J.N.
        • Turbitt E.
        • Lewis K.L.
        • et al.
        Defining personal utility in genomics: a Delphi study.
        Clin Genet. 2017; 92: 290-297
        • Semaka A.
        • Austin J.
        Patient perspectives on the process and outcomes of psychiatric genetic counseling: an “Empowering Encounter”.
        J Genet Couns. 2019; 28: 856-868
        • Li M.
        • Bennette C.S.
        • Amendola L.M.
        • et al.
        The feelings about genomiC testing results (FACToR) questionnaire: development and preliminary validation.
        J Genet Couns. 2019; 28: 477-490
        • Cella D.
        • Hughes C.
        • Peterman A.
        • et al.
        A brief assessment of concerns associated with genetic testing for cancer: the Multidimensional Impact of Cancer Risk Assessment (MICRA) questionnaire.
        Health Psychol. 2002; 21: 564-572
      2. Mcallister M, Wood AM, Dunn G, Shiloh S, Todd C. The Genetic Counseling Outcome Scale: a new patient-reported outcome measure for clinical genetics services. Clin Genet. 2011;79(5):413-424. Published correction appears in Clin Genet. 2011;80(1):99.

        • Athens B.A.
        • Caldwell S.L.
        • Umstead K.L.
        • Connors P.D.
        • Brenna E.
        • Biesecker B.B.
        A systematic review of randomized controlled trials to assess outcomes of genetic counseling.
        J Genet Couns. 2017; 26: 902-933
        • Arlinghaus K.R.
        • Johnston C.A.
        Advocating for behavior change with education.
        Am J Lifestyle Med. 2017; 12: 113-116