Exploring the frontiers of genetics and genomics in the digital era
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.
- Brancato V, Esposito G, Coppola L, et al. Standardizing digital biobanks: Integrating imaging, genomic, and clinical data for precision medicine. J Transl Med. 2024;22(1):136. doi: 10.1186/s12967-024-04891-8
- Bombard Y, Ginsburg GS, Sturm AC, Zhou AY, Lemke AA. Digital health-enabled genomics: Opportunities and challenges. Am J Hum Genet. 2022;109(7):1190-1198. doi: 10.1016/j.ajhg.2022.05.001
- Schork NJ. The big data revolution and human genetics. Hum Mol Genet. 2018;27(R1):R1. doi: 10.1093/hmg/ddy123
- Cazzaniga A, Plebani M, Crimi M. Genome access and other web-based IT solutions: Genetic counseling in the digital era. Front Public Health. 2022;10:1035316. doi: 10.3389/fpubh.2022.1035316
- Dasho E, Kuneshka L, Toci E. Information technology in health-care systems and primary health care. Open Access Maced J Med Sci. 2022;10(E):1919-1926. doi: 10.3889/oamjms.2022.11380
- Brennan J, McElligott A, Power N. National Health models and the adoption of E-health and E-prescribing in primary care - New evidence from Europe. J Innov Health Inform. 2015;22(4):399-408. doi: 10.14236/jhi.v22i4.97
- Reale R, Biasin E, Scardovi A, Toro S. The design and implementation of a national AI platform for public healthcare in Italy: Implications for semantics and interoperability. arXiv [Preprint]. 2023. doi: 10.48550/arxiv.2304.11893
- Andersson D, Kebede FT, Escobar M, Österlund T, Ståhlberg A. Principles of digital sequencing using unique molecular identifiers. Mol Aspects Med. 2024;96:101253. doi: 10.1016/j.mam.2024.101253
- Abdallah S, Sharifa M, Almadhoun MKI, et al. The impact of artificial intelligence on optimizing diagnosis and treatment plans for rare genetic disorders. Cureus. 2023;15(10):e46860. doi: 10.7759/cureus.46860
- Miao BY, Sushil M, Xu A, et al. Characterisation of digital therapeutic clinical trials: A systematic review with natural language processing. Lancet Digit Health. 2024;6(3):e222-e229. doi: 10.1016/s2589-7500(23)00244-3
- Naik H, Palaniappan L, Ashley EA, Scott SA. Digital health applications for pharmacogenetic clinical trials. Genes (Basel). 2020;11(11):1261. doi: 10.3390/genes11111261
- Stein DJ, Giordano J. Global mental health and neuroethics. BMC Med. 2015;13(1):44. doi: 10.1186/s12916-015-0274-y
- Koido K, Traks T, Balõtšev R, et al. Associations between LSAMP gene polymorphisms and major depressive disorder and panic disorder. Transl Psychiatry. 2012;2(8):e152. doi: 10.1038/tp.2012.74
- Ho XD, Phung P, Le VQ, et al. Whole transcriptome analysis identifies differentially regulated networks between osteosarcoma and normal bone samples. Exp Biol Med (Maywood). 2017;242(18):1802-1811. doi: 10.1177/1535370217736512
- Bandrés‐Ciga S, Ahmed S, Sabir MS, et al. The genetic architecture of Parkinson disease in Spain: Characterizing population‐specific risk, differential haplotype structures, and providing etiologic insight. Mov Disord. 2019;34(12):1851-1863. doi: 10.1002/mds.27864
- Smith CE, Fullerton SM, Dookeran KA, et al. Using genetic technologies to reduce, rather than widen, health disparities. Health Aff (Millwood). 2016;35(8):1367-1373. doi: 10.1377/hlthaff.2015.1476
- Belani S, Tiarks GC, Mookerjee N, Rajput V. “I agree to disagree”: Comparative ethical and legal analysis of big data and genomics for privacy, consent, and ownership. Cureus. 2021;13(10):e18736. doi: 10.7759/cureus.18736
- Karabekmez ME. Data ethics in digital health and genomics. New Bioeth. 2021;27(4):320-333. doi: 10.1080/20502877.2021.1996965