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

Wallingford, Courtney K.; Kovilpillai, Hannah; Jacobs, Chris; Turbitt, Erin; Primiero, Clare A.; Young, Mary‐Anne; Brockman, Deanna; Soyer, H. Peter; McInerney-Leo, Aideen; Yanes, Tatiane

doi:10.1016/j.gim.2022.09.008

Cited by 12 publications

(9 citation statements)

References 51 publications

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“…Concerns have now also been raised about psychosocial harms following PGS, although evidence is again limited (Fenton et al, 2018;Forrest et al, 2019;Wallingford et al, 2022;Young et al, 2017). Research to date demonstrates that testing for PGS offered in clinical practice or population health has a high uptake, is generally acceptable to providers and recipients, and aligns well with the general conception of heritability in the population that expects inherited features to reflect a genetic contribution from both parents (Marteau & Richards, 1996;Willis et al, 2021;Young et al, 2017).…”

Section: Psychosocial Implications Of Genetic Informationmentioning

confidence: 99%

“…In many applications PGS will be combined with information about other risk factors, adding to the complexity of counseling by requiring appropriate contextualization of different risk factors, their contribution and potential for modification. Scalable models are required that balance patient communication needs and preferences with effective health service delivery (Wallingford et al, 2022). Triaged approaches have been proposed that vary the level of PGS information and risk management recommendations, depending on an individual's level of risk (Smit et al, 2020).…”

Section: Education and Communication Needs For Pgs Implementationmentioning

confidence: 99%

“…Several studies have now evaluated the impact of communicating PGS on health behavior, with mixed results (Wallingford et al, 2022). Compared to individuals with a low PGS, those with a high PGS have reported improvements in sun protection behaviors and skin examinations (Lacson et al, 2021; Saya et al, 2020), and increased uptake of risk-reducing medication for cardiovascular disease, resulting in lowered LDL-cholesterol levels (Muse et al, 2022).…”

Section: Behavioral Response To Pgs Testingmentioning

confidence: 99%

“…The development of practice guidelines, risk prediction tools, decision support and online point-of-care risk communication tools and resources will be key in supporting PGS integration into clinical practice and population health (Smit et al, 2019; Wallingford et al, 2022). Evidence from international settings where PGS-based tests are more available have found reluctance to utilize these tests due to common concerns about the absence of such clinical guidelines, as well as insufficient evidence of clinical utility and inequity for patients from non-European backgrounds (McGuinness et al, 2021).…”

Section: Education and Communication Needs For Pgs Implementationmentioning

confidence: 99%

“…An extensive literature exists around effective communication of genetic risk information for monogenic conditions. This evidence suggests that genetic counseling, lifestyle counseling, and written patient information can also improve patient understanding of polygenic risk information (Fenton et al, 2018; Kaur et al, 2019; Wallingford et al, 2022; Yanes, Kaur, et al, 2020). Patient understanding is also linked to a clinician’s own familiarity with the field, with evidence for significantly higher comprehension in patients who had PGS explained by a trained health professional (Haga et al, 2014).…”

Section: Education and Communication Needs For Pgs Implementationmentioning

confidence: 99%

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Human Genetics Society of Australasia Position Statement: Use of Polygenic Scores in Clinical Practice and Population Health

et al. 2023

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Considerable progress continues to be made with regards to the value and use of disease associated polygenic scores (PGS). PGS aim to capture a person’s genetic liability to a condition, disease, or a trait, combining information across many risk variants and incorporating their effect sizes. They are already available for clinicians and consumers to order in Australasia. However, debate is ongoing over the readiness of this information for integration into clinical practice and population health. This position statement provides the viewpoint of the Human Genetics Society of Australasia (HGSA) regarding the clinical application of disease-associated PGS in both individual patients and population health. The statement details how PGS are calculated, highlights their breadth of possible application, and examines their current challenges and limitations. We consider fundamental lessons from Mendelian genetics and their continuing relevance to PGS, while also acknowledging the distinct elements of PGS. Use of PGS in practice should be evidence based, and the evidence for the associated benefit, while rapidly emerging, remains limited. Given that clinicians and consumers can already order PGS, their current limitations and key issues warrant consideration. PGS can be developed for most complex conditions and traits and can be used across multiple clinical settings and for population health. The HGSA’s view is that further evaluation, including regulatory, implementation and health system evaluation are required before PGS can be routinely implemented in the Australasian healthcare system.

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Section: Psychosocial Implications Of Genetic Informationmentioning

confidence: 99%

Section: Education and Communication Needs For Pgs Implementationmentioning

confidence: 99%

Section: Behavioral Response To Pgs Testingmentioning

confidence: 99%

Section: Education and Communication Needs For Pgs Implementationmentioning

confidence: 99%

Section: Education and Communication Needs For Pgs Implementationmentioning

confidence: 99%

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Human Genetics Society of Australasia Position Statement: Use of Polygenic Scores in Clinical Practice and Population Health

et al. 2023

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The role of polygenic risk scores in breast cancer risk perception and decision-making

et al. 2023

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Polygenic risk scores (PRS) have the potential to improve the accuracy of clinical risk assessments, yet questions about their clinical validity and readiness for clinical implementation persist. Understanding how individuals integrate and act on the information provided by PRS is critical for their effective integration into routine clinical care, yet few studies have examined how individuals respond to the receipt of polygenic risk information. We conducted an embedded Ethical, Legal, and Social Implications (ELSI) study to examine if and how unaffected participants in a US population breast cancer screening trial understood and utilized PRS, as part of a multifactorial risk score combining traditional risk factors with a genetic risk assessment, to make screening and risk-reduction decisions. Semi-structured qualitative interviews were conducted with 24 trial participants who were designated at elevated risk for breast cancer due to their combined risk score. Interviews were analyzed using a grounded theory approach. Participants understood PRS conceptually and accepted it as one of many risk factors to consider, yet the value and meaning they ascribed to this risk estimate varied. Most participants reported financial and insurance barriers to enhanced screening with MRI and were not interested in taking risk-reducing medications. These findings contribute to our understanding of how PRS may be best translated from research to clinical care. Furthermore, they illuminate ethical concerns about identifying risk and making recommendations based on polygenic risk in a population screening context where many may have trouble accessing appropriate care.

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Cost-effectiveness of population-wide genomic screening for Lynch Syndrome and polygenic risk scores to inform colorectal cancer screening

Jiang,

Guzauskas,

Garbett

et al. 2025

Genetics in Medicine

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

Cited by 12 publications

References 51 publications

Human Genetics Society of Australasia Position Statement: Use of Polygenic Scores in Clinical Practice and Population Health

Human Genetics Society of Australasia Position Statement: Use of Polygenic Scores in Clinical Practice and Population Health

The role of polygenic risk scores in breast cancer risk perception and decision-making

Cost-effectiveness of population-wide genomic screening for Lynch Syndrome and polygenic risk scores to inform colorectal cancer screening

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