‘There is a lot of good in knowing, but there is also a lot of downs’: public views on ethical considerations in population genomic screening

Smit, Amelia K.; Reyes-Marcelino, Gillian; Keogh, Louise; Cust, Anne E.; Newson, Ainsley J

doi:10.1136/medethics-2019-105934

Cited by 11 publications

(20 citation statements)

References 46 publications

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“…Psychosocial and attitudinal barriers, such as anxiety and worry toward screening and the possibility for negative psychological and emotional impacts, were the most reported individual-level barriers across stakeholders, even though studies to date have demonstrated limited impacts on psychological and emotional outcomes with any adverse responses dissipating over time (Hietaranta-Luoma H.-L. et al, 2015;Hollands et al, 2016;Frieser et al, 2018;Smit et al, 2020). Of the studies that implemented screening programs, all screened for different disease states and half provided prescreen counseling mediated by a healthcare provider.…”

Section: Discussionmentioning

confidence: 99%

Barriers and facilitators for population genetic screening in healthy populations: a systematic review

Shen¹,

Sriniva²,

Passero³

et al. 2022

Preprint

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Studies suggest that 1-3% of the general population in the United States unknowingly carry a genetic risk factor for a common hereditary disease. Knowing this information could help guide improved disease risk management and preventive care. Population-based genetic screening is the process of offering otherwise healthy patients screening for genetic variants that predispose them to certain diseases that are “clinically actionable”, meaning that they can be prevented or mitigated if they are detected early in asymptomatic individuals. Optimizing population genetic screening may significantly reduce morbidity and mortality from these diseases by informing risk-specific prevention or mitigation strategies and facilitating appropriate participation in early detection and screening. To better understand current barriers, facilitators, perceptions, and outcomes related to the implementation of population screening, we conducted a systematic review and searched PubMed, Embase, and Scopus for articles published from date of database inception to May 2020. We included articles that (1) detailed the perspectives of participants in population screening programs and (2) described the barriers, facilitators, perceptions, and outcomes related to population genetic screening programs among patients, healthcare providers, and the public. We excluded articles that (1) focused on direct-to-consumer or risk-based genetic testing and (2) collected data before January 2000. Twenty-nine articles met these criteria. Barriers and facilitators to population genetic screening were organized by the Social Ecological Model and further categorized by themes. We found that research in population genetic screening has focused on stakeholder attitudes about screening with all included studies designed to elucidate individuals’ perceptions. Additionally, inadequate knowledge and perceived limited clinical utility presented a barrier for healthcare provider uptake. There were very few studies that conducted long-term follow-up and analysis of population genetic screening. Our findings suggest that these and other factors, such as prescreen counseling and education, may play a role in the acceptance and implementation of population-based genetic screening. Future studies to investigate macro-level determinants, provider buy-in and education, prescreen counseling, and long-term outcomes of population genetic screening are needed for the effective design and implementation of such programs.

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Section: Discussionmentioning

confidence: 99%

Barriers and facilitators for population genetic screening in healthy populations: a systematic review

Shen¹,

Sriniva²,

Passero³

et al. 2022

Preprint

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show abstract

“…Thirty articles were included. (Shaw and Bassi, 2001;Laskey et al, 2003;Toiviainen et al, 2003;Sanderson et al, 2004Sanderson et al, , 2017Allen et al, 2008;Borry et al, 2008;Neghina and Anghel, 2010;Haga et al, 2011;Hardie, 2011;Henneman et al, 2011;Nielsen and El-Sohemy, 2012;Nusbaum et al, 2013;Haga et al, 2014;Vassy et al, 2014;Hietaranta-Luoma et al, 2015;O'Neill et al, 2015;Shiloh et al, 2015;Godino et al, 2016;Nicholls et al, 2016;Sanderson et al, 2016;Vassy et al, 2017;Fenton et al, 2018;Hay et al, 2018;East et al, 2019;Rego et al, 2019;Rubinsak et al, 2019;Zoltick et al, 2019;Joshi et al, 2020;Smit et al, 2020).…”

Section: Study Characteristicsmentioning

confidence: 99%

“…et al, 2019; Joshi et al, 2020;Smit et al, 2020) and one study did not record information about gender or sex (Joshi et al, 2020).…”

Section: Study Characteristicsmentioning

confidence: 99%

Barriers and Facilitators for Population Genetic Screening in Healthy Populations: A Systematic Review

et al. 2022

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Studies suggest that 1–3% of the general population in the United States unknowingly carry a genetic risk factor for a common hereditary disease. Population genetic screening is the process of offering otherwise healthy patients in the general population testing for genomic variants that predispose them to diseases that are clinically actionable, meaning that they can be prevented or mitigated if they are detected early. Population genetic screening may significantly reduce morbidity and mortality from these diseases by informing risk-specific prevention or treatment strategies and facilitating appropriate participation in early detection. To better understand current barriers, facilitators, perceptions, and outcomes related to the implementation of population genetic screening, we conducted a systematic review and searched PubMed, Embase, and Scopus for articles published from date of database inception to May 2020. We included articles that 1) detailed the perspectives of participants in population genetic screening programs and 2) described the barriers, facilitators, perceptions, and outcomes related to population genetic screening programs among patients, healthcare providers, and the public. We excluded articles that 1) focused on direct-to-consumer or risk-based genetic testing and 2) were published before January 2000. Thirty articles met these criteria. Barriers and facilitators to population genetic screening were organized by the Social Ecological Model and further categorized by themes. We found that research in population genetic screening has focused on stakeholder attitudes with all included studies designed to elucidate individuals’ perceptions. Additionally, inadequate knowledge and perceived limited clinical utility presented a barrier for healthcare provider uptake. There were very few studies that conducted long-term follow-up and evaluation of population genetic screening. Our findings suggest that these and other factors, such as prescreen counseling and education, may play a role in the adoption and implementation of population genetic screening. Future studies to investigate macro-level determinants, strategies to increase provider buy-in and knowledge, delivery models for prescreen counseling, and long-term outcomes of population genetic screening are needed for the effective design and implementation of such programs.Systematic Review Registration: https://www.crd.york.ac.uk/prospero/display_record.php?ID=CRD42020198198

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“…To understand this problem, it is useful to bear in mind that the variants of a gene may or may not be pathogenic and that, if they are pathogenic, the severity of the illness may be difficult to determine. 19,201 In 21 explored social views and attitudes towards possible future provision of personalised genomic risk information to populations, using semi-structured interviews. The participants in their study did not identify clinical uncertainty, nor the possibility of false positives or false negatives as an ethical problem.…”

Section: Overdiagnosis Overtreatment and Incidental Findingsmentioning

confidence: 99%

“…In 21 explored social views and attitudes towards possible future provision of personalised genomic risk information to populations, using semi‐structured interviews. The participants in their study did not identify clinical uncertainty, nor the possibility of false positives or false negatives as an ethical problem.…”

Section: Overdiagnosis Overtreatment and Incidental Findingsmentioning

confidence: 99%

Ethical questions concerning newborn genetic screening

Esquerda

Palau

Lorenzo³

et al. 2020

Clinical Genetics

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Newborn screening is a public health strategy used to identify certain diseases in the first days of life and, therefore, facilitate early treatment before the onset of symptoms. The decision of which diseases should be included in a screening goes beyond the medical perspective, including reasons for public health and health economics. There are a number of characteristics to include a disease in the screening, such as that the disorder must be a significant health problem, the natural history of the disease must be well known, a feasible and accurate test must be available, there must be a treatment that is most effective when applied before the onset of clinical symptoms and a health system must be in place that is capable of performing the procedure and subsequent monitoring. Currently, newborn screening programs are currently based on the use of biochemical markers that detect metabolites, hormones or proteins, but recently, the availability of new technology has allowed the possibility of a genetic screening. In addition to technical problems, the possibility of neonatal screening also presents a number of ethical problems. We identified and discussed six areas of particular concern: type of illness, overdiagnosis or overtreatment, information management and informed consent, data confidentiality and protection, justice and legal regulation.

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‘There is a lot of good in knowing, but there is also a lot of downs’: public views on ethical considerations in population genomic screening

Cited by 11 publications

References 46 publications

Barriers and facilitators for population genetic screening in healthy populations: a systematic review

Barriers and facilitators for population genetic screening in healthy populations: a systematic review

Barriers and Facilitators for Population Genetic Screening in Healthy Populations: A Systematic Review

Ethical questions concerning newborn genetic screening

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