Is there a “pandemic effect” on individuals’ willingness to take genetic tests?

Deruelle, Thibaud; Kalouguina, Veronika; Trein, Philipp; Wagner, Joël

doi:10.1038/s41431-022-01223-6

Cited by 4 publications

(3 citation statements)

References 23 publications

(27 reference statements)

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“…Genetic testing has proved to be a cost‐effective way to diagnose conditions and direct medical resources toward appropriate therapies, surveillance, or treatment, though many barriers and limitations remain implementation of such testing (Muth et al., 2019 ; O'Brien et al., 2021 ; Serrano et al., 2023 ). The COVID‐19 pandemic both exposed these access disparities and eased some barriers by increasing the uptake of telemedicine in genetics clinics, willingness to share genetic information, and to undergoing genetic testing (Deruelle et al., 2023 ; Macalino et al., 2023 ). However, some challenges were exacerbated such as the exclusion of patients without reliable access to the internet or technological literacy to utilize telemedicine (Mann et al., 2021 ).…”

Section: Discussionmentioning

confidence: 99%

Novel hemizygous single‐nucleotide duplication in RPGR in a patient with retinal dystrophy and sensorineural hearing loss

German,

Vuocolo,

Vossaert

et al. 2024

Molec Gen & Gen Med

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BackgroundThe RPGR gene has been associated with X‐linked cone‐rod dystrophy. This report describes a variant in RPGR detected with exome sequencing (ES). Genes like RPGR have not always been included in panel‐based testing and thus genome‐wide tests such as ES may be required for accurate diagnosis.MethodsThe Texome Project is studying the impact of ES in medically underserved patients who are in need of genomic testing to guide diagnosis and medical management. The hypothesis is that ES could uncover diagnoses not made by standard medical care.ResultsA 58‐year‐old male presented with retinitis pigmentosa, sensorineural hearing loss, and a family history of retinal diseases. A previous targeted gene panel for retinal disorders had not identified a molecular cause. ES through the Texome Project identified a novel, hemizygous variant in RPGR (NM_000328.3: c.1302dup, p.L435Sfs*18) that explained the ocular phenotype.ConclusionsContinued genetics evaluation can help to end diagnostic odysseys of patients. Careful consideration of genes represented when utilizing gene panels is crucial to ensure an accurate diagnosis. Medically underserved populations are less likely to receive comprehensive genetic testing in their diagnostic workup. Our report is an example of the medical impact of genomic medicine implementation.

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Section: Discussionmentioning

confidence: 99%

Novel hemizygous single‐nucleotide duplication in RPGR in a patient with retinal dystrophy and sensorineural hearing loss

German,

Vuocolo,

Vossaert

et al. 2024

Molec Gen & Gen Med

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“…Two thirds (67%) of the sample is comprised of Swiss Germans and the remaining 33% are from Switzerland's French-speaking region. The data does not take into account the Italian- and the Romansh-speaking regions, representing 8% and less than 1% of the population respectively (Deruelle et al, 2022).…”

Section: Method: Cross-sectional Survey Experimentsmentioning

confidence: 99%

Designing privacy in personalized health: An empirical analysis

et al. 2023

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A crucial challenge for personalized health is the handling of individuals’ data and specifically the protection of their privacy. Secure storage of personal health data is of paramount importance to convince citizens to collect personal health data. In this survey experiment, we test individuals’ willingness to produce and store personal health data, based on different storage options and whether this data is presented as common good or private good. In this paper, we focus on the nonmedical context with two means to self-produce data: connected devices that record physical activity and genetic tests that appraise risks of diseases. We use data from a survey experiment fielded in Switzerland in March 2020 and perform regression analyses on a representative sample of Swiss citizens in the French- and German-speaking cantons. Our analysis shows that respondents are more likely to use both apps and tests when their data is framed as a private good to be stored by individuals themselves. Our results demonstrate that concerns regarding the privacy of personal heath data storage trumps any other variable when it comes to the willingness to use personalized health technologies. Individuals prefer a data storage format where they retain control over the data. Ultimately, this study presents results susceptible to inform decision-makers in designing privacy in personalized health initiatives.

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“…These concerns are not unfounded, and it is important to address them. 4 Another concern is the accuracy and reliability of genetic testing. Some individuals may be skeptical about the utility of genetic testing, questioning the implications of such information or the reliability of the results.…”

mentioning

confidence: 99%

Attitude and awareness of the public toward genetic testing in Al-Madinah Al-Munawwara, Saudi Arabia

Alnefaie,

Makhlouta,

Alahmadi

et al. 2023

Int J Community Med Public Health

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Background: Genetic testing is a growing field that can provide valuable information about an individual's health, ancestry, and potential risks for various health conditions. While some people are aware of its potential benefits, others have concerns about the privacy of their genetic data, limitations of the testing, ethical issues, and disparities in access to testing and interpretation services. While genetic testing has the potential to provide valuable information, there are valid concerns about privacy, accuracy, and ethical issues. The public's attitudes toward genetic testing is shaped by various factors, including accessibility, cost, accuracy, and reliability of the testing and ethical and privacy concerns. A survey-based methodology was used to investigate the attitudes and awareness of the public toward genetic testing and identify the factors that influence these attitudes and awareness. Our study aimed to study the attitude and awareness of Saudi medical and non-medical students toward gene testing across different Universities in Al Madinah, Saudi Arabia. Methods: A cross-sectional study was conducted on 274 participants. The data were analyzed descriptively using statistical package for the social sciences (SPSS). Results: Across the 274 participants, the majority have agreed on the importance of gene studying especially in facilitating the marriage process and assuring healthier generations, while there was also a concern about the security and confidentiality of gene mapping and banking, screening for cancer, and cardiac disorder were on top of interest among the participants to use gene screening in. Conclusions: In conclusion, genetic testing is essential for diagnosing genetic diseases, but predictive genetic tests have limited benefits due to gene-environment interactions. Advances in genome technologies have produced large amounts of sensitive genetic data. Genetic education is necessary to promote informed decision-making, reduce genetic essentialism, and improve genomics literacy. Most study participants acknowledged the significance of genetic disorder screening before marriage to improve their health and their offspring's health.

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Is there a “pandemic effect” on individuals’ willingness to take genetic tests?

Cited by 4 publications

References 23 publications

Novel hemizygous single‐nucleotide duplication in RPGR in a patient with retinal dystrophy and sensorineural hearing loss

Novel hemizygous single‐nucleotide duplication in RPGR in a patient with retinal dystrophy and sensorineural hearing loss

Designing privacy in personalized health: An empirical analysis

Attitude and awareness of the public toward genetic testing in Al-Madinah Al-Munawwara, Saudi Arabia

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