AccScience Publishing / GPD / Online First / DOI: 10.36922/gpd.4128
PERSPECTIVE ARTICLE

Exploring the frontiers of genetics and genomics in the digital era

Marco Crimi1,2* Francesca Ronzoni1 Alison Masiel Magne Jimenes1 Emil Byberg2
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1 Biomed Research Office, Kaleidos SCS, Bergamo, Italy
2 R&D Office, Net-Medicare SRL, Bergamo, Italy
Submitted: 2 July 2024 | Accepted: 29 July 2024 | Published: 10 September 2024
© 2024 by the Author(s). This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution 4.0 International License ( https://creativecommons.org/licenses/by/4.0/ )
Abstract

Genetics provides a vital tool for primary health-care practitioners, aiding in targeted medication therapy, managing multifactorial illness risks, and addressing hereditary reproductive hazards. Discovering genomic variations linked to diseases enhances our understanding of these medical conditions, facilitating the development of personalized treatments and influencing health-care decisions. It has been predicted that advancing technologies and research will improve clinical practices. For instance, the post-COVID-19 era saw the increasing fusion of genetic approaches with digital health tools, marked by the incorporation of genetic data into electronic medical records, which helps advance the maturation of precision medicine. However, challenges such as managing large datasets and limited resource accessibility hinder the full potential of genetic data. Standardizing data formats and integrating genetic data with health-care systems remains problematic and unfeasible for collaboration. The rise of telemedicine and remote monitoring has paved the way for more expanded genetic counseling access, whereas artificial intelligence provides a promising tool for revolutionizing precision medicine through extensive genomic data analysis. Nonetheless, privacy, standardization, and ethical concerns persist, calling for more secure data management practices in genomic health care. Ensuring compliance with the General Data Protection Regulation and Health Insurance Portability and Accountability Act is crucial for ethical data handling. Moreover, a shortage of trained professionals limits access to specialized care, especially in underserved areas. This study reviews digital health applications in genetics and genomics, assessing their impact on health-care delivery and patient outcomes. Addressing these challenges is critical for fostering effective, equitable health-care solutions, a prerequisite for promoting a precise, patient-centered approach to medicine.

Keywords
Digital genomics
Genetic medicine
Rare diseases
Telemedicine
Genetic counselling
Funding
We extend our heartfelt gratitude to Tavola Valdese for their invaluable support in our projects focused on digital genetic counseling, made possible through “Otto per Mille” funds (grant ID OPM/2023/39346).
Conflict of interest
Marco Crimi is a stock owner on Net-Medicare SRL but has no known competing financial interests or personal relationships that could have influenced the work reported in this paper. Other authors declared that they have no known competing interests.
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Gene & Protein in Disease, Electronic ISSN: 2811-003X Published by AccScience Publishing