Public attitudes toward genetic risk scoring in medicine and beyond

Zhang, Simone; Johnson, Rebecca A.; Novembre, John; Freeland, Edward P.; Conley, Dalton

doi:10.1016/j.socscimed.2021.113796

Cited by 12 publications

(8 citation statements)

References 22 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…These findings highlight the urgent need for further research to comprehensively inform the public, IVF patients, REIs, and genetic counselors on the potential benefits, limitations, and concerns that surround the use of PES. Given the divide in approval between the public and IVF patients on the one hand and healthcare professionals on the other 22,25,[34][35][36]38 we recommend that stakeholder groups, particularly policymakers, working groups from professional societies, and clinicians, consider the basis of this divide. Finally, approval was significantly different between using PES for health conditions versus traits.…”

Section: Discussionmentioning

confidence: 99%

“…It is thus of primary importance to understand how the public perceives the use of PES for health conditions and an array of polygenic outcomes. Given the recent emergence of this technology, only two short surveys have published results, and these have been limited to gauging U.S. public approval and interest in PES for specific outcomes 34,35 . In the present survey, we examined 24 conditions and traits - informed by qualitative interviews with US-based REIs and IVF patients 36 .…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Polygenic Embryo Screening: High Approval Despite Substantial Concerns from the U.S. Public

Furrer,

Barlevy,

Pereira

et al. 2023

Preprint

View full text Add to dashboard Cite

Polygenic embryo screening (PES) is a novel, yet commercially available, technology that can compute genetic likelihood estimates of polygenic conditions (e.g., diabetes, depression) and traits (e.g., height, cognitive ability) in embryos. Patients undergoing in vitro fertilization (IVF) can use these polygenic scores to select which embryos to transfer for implantation with the goal of having a child. We conducted a survey of the U.S. public to examine attitudes toward PES encompassing acceptance, interest, potential uses, and concerns (n=1435). Our results indicate 72% public approval for PES, with 82% expressing some interest in using PES if already undergoing IVF. Approval for using PES for embryo selection is notably high for physical health (77%) and psychiatric conditions (72%). In contrast, there is minority approval for embryo selection based on PES for behavioral traits (36%) and physical traits (30%). Nevertheless, concerns about PES leading to false expectations, eugenic practices, and stigma are pronounced (54-55% find them very to extremely concerning). In a second sample of participants (n=192), presenting concerns at survey onset (vs. end) reduced approval (-28%) by mostly increasing ambivalence (+24%), and only slightly increasing disapproval (+4%). Given its commercial availability, practical limitations, and ethical concerns among physicians, patients, geneticists, bioethicists, and legal scholars, it is notable that there is such high public approval and interest in using PES. Understanding these attitudes is essential for informing policymakers, healthcare professionals, and researchers about the public's perspectives on this novel biotechnology and debate about the role of medicine in regulating the use of PES.

show abstract

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Polygenic Embryo Screening: High Approval Despite Substantial Concerns from the U.S. Public

Furrer,

Barlevy,

Pereira

et al. 2023

Preprint

View full text Add to dashboard Cite

show abstract

“…We agree with Turley et al on the need for clear and accurate pretest communication; those study participants who received embryo predictions first completed a pretest counseling and consent session with a medical geneticist and then completed a follow-up survey to gauge their understanding and perceived benefit. Despite limitations, emerging evidence suggests public interest in incorporating PRS in embryo screening; a recent survey found 68% of 1,457 US participants believed embryo screening using PRS was reasonable 17 . Further study, through research protocols like ours, can help generate much-needed evidence on utility.…”

Section: Discussionmentioning

confidence: 99%

Whole-genome risk prediction of common diseases in human preimplantation embryos

Kumar

Banjevic

et al. 2022

Nat Med

View full text Add to dashboard Cite

Preimplantation genetic testing (PGT) of in-vitro-fertilized embryos has been proposed as a method to reduce transmission of common disease; however, more comprehensive embryo genetic assessment, combining the effects of common variants and rare variants, remains unavailable. Here, we used a combination of molecular and statistical techniques to reliably infer inherited genome sequence in 110 embryos and model susceptibility across 12 common conditions. We observed a genotype accuracy of 99.0–99.4% at sites relevant to polygenic risk scoring in cases from day-5 embryo biopsies and 97.2–99.1% in cases from day-3 embryo biopsies. Combining rare variants with polygenic risk score (PRS) magnifies predicted differences across sibling embryos. For example, in a couple with a pathogenic BRCA1 variant, we predicted a 15-fold difference in odds ratio (OR) across siblings when combining versus a 4.5-fold or 3-fold difference with BRCA1 or PRS alone. Our findings may inform the discussion of utility and implementation of genome-based PGT in clinical practice.

show abstract

“…Genetic predispositions to diseases represent a complex medical setting, indicating wide human outcomes. 1,2 In a clinical setting, genetic risk information is based on scientific evidence about the nature of individuals' genetic conditions [3][4][5] ; genetic counselling assists patients in understanding the genetic aetiology of disease, assessing the risk for genetic disease and providing support to those who encounter a genetic disorder in themselves or family members. Genetic counselling is a process by which patients or relatives at risk of developing a disorder with a potential hereditary component are advised on the consequences of the disorder, probability of developing or transmitting it and ways in which the risk may be prevented, avoided, or ameliorated.…”

Section: Introductionmentioning

confidence: 99%

“…Genetic predispositions to diseases represent a complex medical setting, indicating wide human outcomes 1,2 …”

Section: Introductionmentioning

confidence: 99%

Patient perspective in perceived comparative genetic mutation risk: An exploratory review

Cilli,

Guerra,

Ranieri

et al. 2024

Clinical Genetics

View full text Add to dashboard Cite

The genetic risk of chronic diseases represents a complex medical setting in which individuals need to adapt to health conditions that manage daily living towards to healthy behaviours. This exploratory review focused on psychological counselling for genetic risk diagnosis. This study aimed to address the psychological management of the impact of genetic risk on chronic diseases. We performed a systematic search of MEDLINE via PubMed, Embase, Web of Science, PsycINFO and Scopus for articles from May 2012 to August 2023. A descriptive analysis of the characteristics of the included studies was conducted. Based on the exclusion/inclusion criteria, the literature search yielded 250 studies. Seventeen full texts were assessed for eligibility and 207 articles were excluded. Observational (n = 15) and randomised clinical trials (n = 2) were examined. Most studies have been conducted on oncological diagnoses; the emotional dimensions examined have been worry, depression, anxiety and stress in most diseases. Psychological measures are based on self‐reports and questionnaires; few studies have investigated the connections between quality of life, psychological traits and emotional dimensions. The complexity of clinics and from daily diagnostic and treatment practices to the everyday experience of those living with the risk of disease might be addressed in counselling settings to improve quality of life in genetic risk, increasing mental adaptation to tailored chronic conditions. Thus, the empowerment of communication of genetic risk information should be part of the general trend towards personalised medicine.

show abstract

Public attitudes toward genetic risk scoring in medicine and beyond

Cited by 12 publications

References 22 publications

Polygenic Embryo Screening: High Approval Despite Substantial Concerns from the U.S. Public

Polygenic Embryo Screening: High Approval Despite Substantial Concerns from the U.S. Public

Whole-genome risk prediction of common diseases in human preimplantation embryos

Patient perspective in perceived comparative genetic mutation risk: An exploratory review

Contact Info

Product

Resources

About