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Gene & Protein in Disease Next gen (omics)

thus impeding collaboration and innovation. For digital Despite its potential, the use of genetic data raises
health interventions in genetics to thrive, access to high- privacy concerns, highlighting the need for secure and
quality genetic testing is imperative. Unfortunately, such ethical data use. Standardization is crucial for advancing
accessibility may not be universally available or financially research and innovation, whereas data integration/
viable for all patients. Consequently, the limited reach of interoperability measures (Figure 1) help understand the
eHealth solutions exacerbates disparities in access to care. complex interactions between genetics, environment,
and disease. Machine learning and AI will play essential
Moreover, the utilization of genetic data raises a myriad
of ethical considerations, encompassing issues surrounding roles in genomic data analysis, facilitating access to health
care while simultaneously reducing costs through disease
informed consent (IC), data ownership, and the potential prevention, early diagnosis, and personalized treatments.
for genetic information-based discrimination. For instance,
there is widespread concern regarding the possibility of a Acknowledgments
breach in genetic data security. Some companies have
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been criticized for inadequately safeguarding genetic None.
information, leaving it susceptible to leaks through research Funding
publications or secondary channels such as social media.
Such breaches may inadvertently expose individuals, even We extend our heartfelt gratitude to Tavola Valdese for
in cases where direct identification by name or personal their invaluable support in our projects focused on digital
identifier is improbable. Hence, it is crucial to acknowledge genetic counseling, made possible through “Otto per
that the utilization of genetic data needs to be subjected Mille” funds (grant ID OPM/2023/39346).
to a spectrum of policies and intellectual property rights.
Navigating these regulatory landscapes can prove intricate Conflict of interest
and time-consuming, and it creates a barrier to the Marco Crimi is a stock owner on Net-Medicare SRL but
development and integration of digital health interventions has no known competing financial interests or personal
into clinical routines for individuals afflicted by genetic relationships that could have influenced the work reported
conditions. Therefore, ensuring privacy in AI-driven in this paper. Other authors declared that they have no
genetic research and health care is essential due to the known competing interests.
sensitive nature of genetic data, with key strategies such
as data anonymization and pseudonymization to protect Author contributions
identities while allowing data use. Robust encryption Conceptualization: Marco Crimi
protocols secure data during transmission and storage, Writing – original draft: All authors
ensuring protection even if intercepted. Writing – review & editing: Marco Crimi, Emil Byberg
To obtain IC from patients is fundamental, which
can also be managed “dynamically” (Figure 1) with Ethics approval and consent to participate
clear explanations of data use and storage. Dynamic-IC Not applicable.
is an advanced approach that incorporates ongoing
communication with participants, allowing them to stay Consent for publication
informed about how their genetic data are used and to adjust Not applicable.
their consent preferences as research progresses. Adhering to
regulations such as the General Data Protection Regulation Availability of data
and Health Insurance Portability and Accountability Act Not applicable.
ensures legal compliance and responsible data handling.
Ethical frameworks also address the moral implications of References
genetic data use, considering issues such as data ownership
and discrimination. Transparency and public engagement 1. Brancato V, Esposito G, Coppola L, et al. Standardizing
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digital biobanks: Integrating imaging, genomic, and clinical
build trust and align research with societal values. These data for precision medicine. J Transl Med. 2024;22(1):136.
strategies mitigate privacy risks and safeguard sensitive
genetic information in AI-driven initiatives. doi: 10.1186/s12967-024-04891-8
2. Bombard Y, Ginsburg GS, Sturm AC, Zhou AY, Lemke AA.
5. Conclusion and future remarks Digital health-enabled genomics: Opportunities and

The field of genomics, empowered with new digital challenges. Am J Hum Genet. 2022;109(7):1190-1198.
tools, enhances personalized and patient-centric care. doi: 10.1016/j.ajhg.2022.05.001

Volume 3 Issue 3 (2024) 5 doi: 10.36922/gpd.4128