The Role of Big Data in Genomics

 

In recent years, the healthcare system has changed from a disease-centered model to a patient-centered model; and big data analytics (BDA) is playing a leading role in that transformation (Batko & Ślęzak, 2022). The healthcare system generates huge amounts of data, from the introduction of electronic medical records, medical images, genomic data, and related behavioral reports. Proper analysis of this data allows the healthcare organizations to offer better support of: disease surveillance, public health management, clinical decision making, and personal genomics. In the healthcare industry, big data consists of the following types of data:

·        Clinical data obtained from medical records, data derived from hospital information systems, image centers, pharmacies, laboratories, and outside organizations that provide patient generate health data, health services, genomic data, physician’s free-text notes, and physiological monitoring data.

·        Biometric data from multiple different types of monitors that collect blood pressure, weight, glucose levels, etc.

·        Financial data to include a full record of patient and insurance billing

·        Scientific research data such as: research results, new methods of treatment, and medical device designs.

·        Patient provided data including their list of preferences, information from self-monitoring systems that detects exercise, meals, sleep, and level of satisfaction.

·        Social media data

One of the most fascinating areas where BDA is making an impact in the healthcare industry is in genomics. According to the National Human Genome Research Institute, genomics is the overall study of a person’s genes (the genome), including the interactions of those genes with each other and the person’s environment. A genome is an organisms complete set of DNA. Every single cell in the human body contains a complete copy of an estimated 3 billion DNA based pairs that make up the human genome. The precision public health (PPH) field has emerged as a response to the increasing availability of genomics, biobanks and other sources of healthcare and public health data. Through this emergence, the genomic field has evolved to include many practical applications such as pathogen genomics that help address public health (Khoury et al., 2020).

According to Khoury et al., 2020, there are many current, or near tem applications of genomics and BDA in the precision public health field, to include the development of:

·        Targeted interventions to implement more effective interventions helping to improve overall health and to reduce health disparities

·        A focus on modernizing public health care surveillance

·        The use of machine learning in public health, and special applications of pathogen genomics in public health response to infectious diseases

Genomics and big data analytics rely on the integration of individual genomic information with large knowledge data sets or databases that contain certain genome-type phenotype correlations and genomic and clinical associations from large populations of individuals (Mattick et al., 2014). Well curated, purposely built evidence based data sets of human genotype-phenotype are being collected and are urgently needed, along with new computational tools to automatically interrogate this data as it always increases in volume. Through this data collection and interrogation, clinicians and public healthcare providers are able to interrogate the patient’s genomic sequence against clinical decision support data sets to produce a very informative clinical report (Mattick et al., 2014).

 

References

Batko, K., & Ślęzak, A. (2022, January 6). The use of Big Data Analytics in Healthcare - Journal of Big Data. SpringerOpen. Retrieved January 30, 2023, from https://journalofbigdata.springeropen.com/articles/10.1186/s40537-021-00553-4#:~:text=Big%20Data%20Analytics%20can%20provide,potential%20%5B3%2C%2062%5D.

Khoury, M. J., Armstrong, G. L., Bunnell, R. E., Cyril, J., & Lademarco, M. F. (2020, October 29). The intersection of Genomics and big data with public health: Opportunities for precision public health. PLOS Medicine. Retrieved January 30, 2023, from https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7595300/

Mattick, J. S., Dziadek, M. A., Terrill, B. N., Kaplan, W., Spigelman, A. D., Bowling, F. G., & Dinger, M. E. (2014, July 7). The impact of genomics on the future of Medicine and Health. The Medical Journal of Australia. Retrieved January 30, 2023, from https://www.mja.com.au/journal/2014/201/1/impact-genomics-future-medicine-and-health

The National Human Genome Research Institute. (n.d.). A brief guide to genomics. Genome.gov. Retrieved January 30, 2023, from https://www.genome.gov/about-genomics/fact-sheets/A-Brief-Guide-to-Genomics