Clinical application of genomic high-throughput data: Infrastructural, ethical, legal and psychosocial aspects

Umbach, Nadine; Beißbarth, Tim; Bleckmann, Annalen; Duttge, Gunnar; Flatau, Laura; König, Alexander; Kuhn, Jessica; Perera-Bel, Júlia; Roschauer, Julia; Schulze, Thomas G.; Schweda, Mark; Urban, Alexander; Zimmermann, Anja; Sax, Ulrich

doi:10.1016/j.euroneuro.2019.09.008

Cited by 4 publications

(7 citation statements)

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“…Possible scenarios of discrimination resulting from the disclosure of a genetic test result were brought up Committee on Bioethics, 2001;Thomas, 2004) and the handling and security of genetic data was reflected Thomas, 2004). Interestingly, data management and security remained important issues to this day but have left the center of the debate Umbach et al, 2020). The perspectives of more recent publications, in alignment with advancements in genetic testing such as whole genome sequencing, have shifted to more specific questions, such as the handling of incidental findings (Marshall et al, 2019;Houdayer et al, 2019;Umbach et al, 2020).…”

Section: Contextual Challengesmentioning

confidence: 99%

“…Interestingly, data management and security remained important issues to this day but have left the center of the debate Umbach et al, 2020). The perspectives of more recent publications, in alignment with advancements in genetic testing such as whole genome sequencing, have shifted to more specific questions, such as the handling of incidental findings (Marshall et al, 2019;Houdayer et al, 2019;Umbach et al, 2020). The obtainment of incidental findings is closely related to the establishment of new technologies (Umbach et al, 2020).…”

Section: Contextual Challengesmentioning

confidence: 99%

“…The perspectives of more recent publications, in alignment with advancements in genetic testing such as whole genome sequencing, have shifted to more specific questions, such as the handling of incidental findings (Marshall et al, 2019;Houdayer et al, 2019;Umbach et al, 2020). The obtainment of incidental findings is closely related to the establishment of new technologies (Umbach et al, 2020). This raises questions regarding their utility, consent and, thereby, aggravates the appropriate delivery of results (Umbach et al, 2020).…”

Section: Contextual Challengesmentioning

confidence: 99%

“…The obtainment of incidental findings is closely related to the establishment of new technologies (Umbach et al, 2020). This raises questions regarding their utility, consent and, thereby, aggravates the appropriate delivery of results (Umbach et al, 2020). Similarly, the indispensable role of the physician in interpreting and disclosing the results (Nguyen and Charlebois, 2015;Hayeems and Boycott, 2018;Zhytnik et al, 2020) and their relationship to the patient (Lohmann and Klein, 2014;Might and Wilsey, 2014) have gained significance in the literature.…”

Section: Contextual Challengesmentioning

confidence: 99%

See 3 more Smart Citations

Genetic Testing for Rare Diseases: A Systematic Review of Ethical Aspects

Kruse

Mueller²,

Aghdassi

et al. 2022

Front. Genet.

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Genetic testing is associated with many ethical challenges on the individual, organizational and macro level of health care systems. The provision of genetic testing for rare diseases in particular requires a full understanding of the complexity and multiplicity of related ethical aspects. This systematic review presents a detailed overview of ethical aspects relevant to genetic testing for rare diseases as discussed in the literature. The electronic databases Pubmed, Science Direct and Web of Science were searched, resulting in 55 relevant publications. From the latter, a total of 93 different ethical aspects were identified. These ethical aspects were structured into three main categories (process of testing, consequences of the test outcome and contextual challenges) and 20 subcategories highlighting the diversity and complexity of ethical aspects relevant to genetic testing for rare diseases. This review can serve as a starting point for the further in-depth investigation of particular ethical issues, the education of healthcare professionals regarding this matter and for informing international policy development on genetic testing for rare diseases.

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Section: Contextual Challengesmentioning

confidence: 99%

Section: Contextual Challengesmentioning

confidence: 99%

Section: Contextual Challengesmentioning

confidence: 99%

Section: Contextual Challengesmentioning

confidence: 99%

See 2 more Smart Citations

Genetic Testing for Rare Diseases: A Systematic Review of Ethical Aspects

Kruse

Mueller²,

Aghdassi

et al. 2022

Front. Genet.

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“…However, large quantities of data are difficult to process; thus, more and more advanced bioinformatic tools that can keep up with this information will also be needed. The first step toward understanding the newly discovered lncRNAs is to look at the RNAs that are the origin of short non-coding RNAs and whose functions are easier to determine [86]. The sequencing technology can provide valuable information, but it will be difficult to assess a single type of molecular interaction, considering that cancer is a polyfactorial disease.…”

Section: The Clinical Impact For New Biomarker and Therapeutic Targetmentioning

confidence: 99%

The Malignant Role of Exosomes as Nanocarriers of Rare RNA Species

Zimța

Sigurjónsson

Gulei

et al. 2020

IJMS

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Nowadays, advancements in the oncology sector regarding diagnosis methods allow us to specifically detect an increased number of cancer patients, some of them in incipient stages. However, one of the main issues consists of the invasive character of most of the diagnosis protocols or complex medical procedures associated with it, that impedes part of the patients to undergo routine checkups. Therefore, in order to increase the number of cancer cases diagnosed in incipient stages, other minimally invasive alternatives must be considered. The current review paper presents the value of rare RNA species isolated from circulatory exosomes as biomarkers of diagnosis, prognosis or even therapeutic intervention. Rare RNAs are most of the time overlooked in current research in favor of the more abundant RNA species like microRNAs. However, their high degree of stability, low variability and, for most of them, conservation across species could shift the interest toward these types of RNAs. Moreover, due to their low abundance, the variation interval in terms of the number of sequences with differential expression between samples from healthy individuals and cancer patients is significantly diminished and probably easier to interpret in a clinical context.

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