Genetic data sharing and artificial intelligence in the era of personalized medicine based on a cross‐sectional analysis of the Saudi human genome program

Alrefaei, Abdulmajeed F.; Hawsawi, Yousef M.; Almaleki, Deyab; Alafif, Tarik; Alzahrani, Faisal; Bakhrebah, Muhammed A

doi:10.1038/s41598-022-05296-7

Cited by 32 publications

(17 citation statements)

References 37 publications

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“…We should agree with foreign authors in that medical confidentiality is a subject for disputes, as it is necessary to protect a patient's privacy and, at the same time, bear responsibility for preserving other people's health (Raimundo, Grando, Machado, Oliveira, Cabar, 2022). The regime of personal data protection is of particular concern due to their vulnerability, probable illegal actions, discrimination, and unethical illegal use (Alrefaei, A.F., Hawsawi, Y.M., Almaleki, D. et al, 2022). At the same time, the polls on personalized medicine held in Pennsylvania (USA) and Bavaria (Germany) showed that most of the respondents were concerned about misuse of genetic data (Kichko, K., Marschall, P.&Flessa, S., 2016).…”

Section: Personal Data: Conceptmentioning

confidence: 98%

Patients’ Personal Data, Including Biometrics, as Objects of Criminal Law Protection

Shutova¹

2022

IJLCW

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The article is devoted to the issues of criminal-legal regulation of patients’ personal data constituting medical secrecy. The research objective is to assess the level of legal regulation of public relations, at which criminal encroachments are performed, during the personal data processing, and to improve the Russian criminal law in this sphere. It was determined that the level of criminal-legal protection of personal data requires improving. Illegal trafficking of personal data, including biometric ones, entails a threat to public relations. Biometric personal data are a valuable resource and may entail commitment of such unlawful actions as manufacturing and marketing of fake models of biometric personal data. The author proposes measures to improve the components of crime, stipulating criminal liability for the violation of privacy and of the Russian legislation on personal data (Art. 137 of the Russian Criminal Code). The author asserts the feasibility of establishing criminal liability for unlawful processing of personal data which infringed substantial harm on the rights and legal interests of a person. Taking into account a high public danger of the deeds which can be committed using biometric personal data and their value, we consider it necessary to criminalize the components of crime consisting in manufacturing and (or) marketing of fake models of biometric personal data.

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Section: Personal Data: Conceptmentioning

confidence: 98%

Patients’ Personal Data, Including Biometrics, as Objects of Criminal Law Protection

Shutova¹

2022

IJLCW

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“…Technology advancements have made it clear that numerous genes, including BRCA1/2 and BARD1, play a crucial role in hereditary and familial breast cancer and ovarian cancer [18,19]. Research has identified BARD1's function in the BRCA1dependent pathway as an anti-breast cancer agent [20].…”

Section: Bard1 As a Tumor-suppressor Gene And Oncogenementioning

confidence: 99%

The Fundamental Role of BARD1 Mutations and Their Applications as a Prognostic Biomarker for Cancer Treatment

Hawsawi¹,

Shams²

2023

BRCA1 and BRCA2 Mutations - Diagnostic and Therapeutic Implications

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BRCA1-associated RING domain 1 (BARD1) constitutes a heterodimeric complex with BRAC1 that triggers several essential biological functions that regulate gene transcription and DNA double-stranded break repair mechanism. BARD1 gene was discovered in 1996 to interact with BRCA1 directly and encodes a 777-aa protein. Interestingly, the BARD1 has a dual role in breast cancer development and progression. It acts as a tumor suppressor and oncogene; therefore, it is included on panels of clinical genes as a prognostic marker. Structurally, BARD1 has homologous domains to BRCA1 that aid their heterodimer interaction to inhibit the progression of different cancers, including breast and ovarian cancers. In addition to the BRCA1-independent pathway, other pathways are involved in tumor suppression, such as the TP53-dependent apoptotic signaling pathway. However, there are abundant BARD1 isoforms that are different from full-length BARD1 due to nonsense and frameshift mutations and deletions associated with susceptibility to cancer, such as neuroblastoma, lung cancer, cervical cancer, and breast cancer. In the current chapter, we shed light on the spectrum of BARD1 full-length genes and isoform mutations and their associated risk with breast cancer. The chapter also highlights the role of BARD1 as an oncogene in breast cancer patients and its uses as a prognostic biomarker for cancer susceptibility testing and treatment

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“…Many genetic programmes are hailed for delivering medical breakthroughs via personalised medicine and the diagnosis of hereditary diseases. For instance, the Saudi Human Genome Program (SHGP), launched by the Saudi King in 2013, was announced with such aims (Alrefaei et al 2022). Research showed that "90.7% of [Saudi] participants agreed that AI could be used in the SHGP" (ibid).…”

Section: Case 2: Genetic Privacymentioning

confidence: 99%

Privacy

Stahl

Schroeder²,

Rodrigues³

2022

Ethics of Artificial Intelligence

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Privacy and data protection are concerns raised about most digital technologies. The advance of artificial intelligence (AI) has given even higher levels of prominence to these concerns. Three cases are presented as examples to highlight the way in which AI can affect or exacerbate privacy concerns. The first deals with the use of private data in authoritarian regimes. The second looks at the implications of AI use of genetic data. The third concerns problems linked to biometric surveillance. Then follows a description of how privacy concerns are currently addressed via data protection regulation and a discussion of where AI may raise new challenges to existing data protection regimes. Current European data protection law requires data protection impact assessment. This chapter suggests that a broader AI impact assessment could broaden the remit of such an assessment to offer more comprehensive coverage of possible privacy concerns linked to AI.

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Genetic data sharing and artificial intelligence in the era of personalized medicine based on a cross‐sectional analysis of the Saudi human genome program

Cited by 32 publications

References 37 publications

Patients’ Personal Data, Including Biometrics, as Objects of Criminal Law Protection

Patients’ Personal Data, Including Biometrics, as Objects of Criminal Law Protection

The Fundamental Role of BARD1 Mutations and Their Applications as a Prognostic Biomarker for Cancer Treatment

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