Privacy and ethical challenges in next-generation sequencing

Martinez-Martin, Nicole; Magnus, David

doi:10.1080/23808993.2019.1599685

Cited by 35 publications

(27 citation statements)

References 78 publications

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“…However, reporting incidental findings of unknown clinical significance to the patient carries significant ethical and legal implications [ 18 ]. Except for the challenge to implement a complex procedure that generates such massive amount of data into laboratories that routinely perform low-throughput testing, management and storage of big data derived from NGS creates significant bioethics dilemmas related to the protection of patient privacy [ 61 ].…”

Section: Discussionmentioning

confidence: 99%

Molecular Profiling of Malignant Pleural Effusions with Next Generation Sequencing (NGS): Evidence that Supports Its Role in Cancer Management

Grigoriadou

Esagian

Ryu

et al. 2020

JPM

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Malignant pleural effusions (MPEs) often develop in advanced cancer patients and confer significant morbidity and mortality. In this review, we evaluated whether molecular profiling of MPEs with next generation sequencing (NGS) could have a role in cancer management, focusing on lung cancer. We reviewed and compared the diagnostic performance of pleural fluid liquid biopsy with other types of samples. When applied in MPEs, NGS may have comparable performance with corresponding tissue biopsies, yield higher DNA amount, and detect more genetic aberrations than blood-derived liquid biopsies. NGS in MPEs may also be preferable to plasma liquid biopsy in advanced cancer patients with a MPE and a paucicellular or it could be difficult to obtain tissue/fine-needle aspiration biopsy. Of interest, post-centrifuge supernatant NGS may exhibit superior results compared to cell pellet, cell block or other materials. NGS in MPEs can also guide clinicians in tailoring established therapies and identifying therapy resistance. Evidence is still premature regarding the role of NGS in MPEs from patients with cancers other than lung. We concluded that MPE processing could provide useful prognostic and theranostic information, besides its diagnostic role.

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Section: Discussionmentioning

confidence: 99%

Molecular Profiling of Malignant Pleural Effusions with Next Generation Sequencing (NGS): Evidence that Supports Its Role in Cancer Management

Grigoriadou

Esagian

Ryu

et al. 2020

JPM

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“…32 Uncertain and incidental (or secondary) results in clinical care should be considered in the context of existing slippages of fiduciary obligations-such as clinician biases and/or patient mistrust-that emerging tests may or may not be able to compensate for. 33 The NHGRI has called for greater diversity among the genomic scientist workforce. 4 In order to contain immediate risks around uncertainty of results and focus resources, is there a case for tiered approaches?…”

Section: Ethics Spotlight 1: Can Genome Sequencing Improve the Uncertainty Of Results And Return Of Clinical Results?mentioning

confidence: 99%

Opportunities and challenges for the computational interpretation of rare variation in clinically important genes

McInnes

Sharo

Koleske

et al. 2021

The American Journal of Human Genetics

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Summary Genome sequencing is enabling precision medicine—tailoring treatment to the unique constellation of variants in an individual’s genome. The impact of recurrent pathogenic variants is often understood, however there is a long tail of rare genetic variants that are uncharacterized. The problem of uncharacterized rare variation is especially acute when it occurs in genes of known clinical importance with functionally consequential variants and associated mechanisms. Variants of uncertain significance (VUSs) in these genes are discovered at a rate that outpaces current ability to classify them with databases of previous cases, experimental evaluation, and computational predictors. Clinicians are thus left without guidance about the significance of variants that may have actionable consequences. Computational prediction of the impact of rare genetic variation is increasingly becoming an important capability. In this paper, we review the technical and ethical challenges of interpreting the function of rare variants in two settings: inborn errors of metabolism in newborns and pharmacogenomics. We propose a framework for a genomic learning healthcare system with an initial focus on early-onset treatable disease in newborns and actionable pharmacogenomics. We argue that (1) a genomic learning healthcare system must allow for continuous collection and assessment of rare variants, (2) emerging machine learning methods will enable algorithms to predict the clinical impact of rare variants on protein function, and (3) ethical considerations must inform the construction and deployment of all rare-variation triage strategies, particularly with respect to health disparities arising from unbalanced ancestry representation.

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“…Similar concerns were raised with the advent of next-generation sequencing (NGS), involving large-scale whole-exome sequencing (WES) and whole-genome sequencing (WGS), which enabled the third-party gathering of large amounts of patient data. 31 Sensitive medical information, when made available to a third party without proper deidentification, could potentially have negative repercussions for a person in terms of future insurance, employment, or health care opportunities. As an example, patient WGS findings have been used by heart and lung transplantation teams to decide whether to list an individual as an organ recipient.…”

Section: Stigma Of Diagnosismentioning

confidence: 99%

Artificial Intelligence in Medical Imaging and its Impact on the Rare Disease Community: Threats, Challenges and Opportunities

et al. 2022

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Privacy and ethical challenges in next-generation sequencing

Cited by 35 publications

References 78 publications

Molecular Profiling of Malignant Pleural Effusions with Next Generation Sequencing (NGS): Evidence that Supports Its Role in Cancer Management

Molecular Profiling of Malignant Pleural Effusions with Next Generation Sequencing (NGS): Evidence that Supports Its Role in Cancer Management

Opportunities and challenges for the computational interpretation of rare variation in clinically important genes

Artificial Intelligence in Medical Imaging and its Impact on the Rare Disease Community: Threats, Challenges and Opportunities

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