Bioinformatics in Healthcare

Bioinformatics plays a vital role in healthcare. Everyday, researchers around the world work to make discoveries to improve human health. They work on discovering new insights about the human body as well as researching treatments for diseases and health conditions. The research process for these activities generate vast amounts of data. Bioinformatics analyses make sense of that data, and pinpoint the insights that can lead to research breakthroughs.

What is bioinformatics?

Bioinformatics combines biology, statistics and computer science. Bioinformaticians use bioinformatics approaches, tools and software to analyse and interpret biological data. In turn, this allows them to discover insights that help us better understand living organisms. Therefore, bioinformatics in healthcare is important to understand the processes at play in ill health and how to develop effect treatments for them.

The Impact of Bioinformatics in Healthcare

Since bioinformatics helps us interpret biological data to understand living organisms, it has played a vital role in advancing our understanding of biology and health. In turn, this has led to significant improvements in healthcare.

The Human Genome Project

Bioinformatics played a crucial role in the completion of the Human Genome Project, a project which has had a profound impact on healthcare.  Running from 1990 to 2003, the Human Genome Project relied on bioinformatics to sequence and analyse the entire human genome. The completion of this project was a huge milestone for life science. In fact, thanks to the project, we now have a complete map of the human genetic code. The process of creating this map included identifying and mapping all the genes in human DNA, so, naturally, it has significantly influenced healthcare.

Some impacts of the Human Genome Project in healthcare include:

Advancing Genetic Disease Research

The Human Genome Project has greatly advanced our knowledge of the genetic basis of diseases. This has helped with the identification of numerous disease-associated genes and potential therapeutic targets. This shows that bioinformatics is helping to advance drug discovery, which will in turn improve healthcare.

Pharmacogenomics

Pharmacogenomics (which studies how an individual’s genes affects their response to drugs) has also benefited greatly. This is because the Human Genome Project paved the way for the development of drugs that are more effective and have fewer side effects based on an individual’s genetic profile. It is therefore clear that thanks to bioinformatics we will see significant improvements in individual healthcare.

Cancer Research

Significant advances have also been made in cancer research thanks to the Human Genome Project. For example, it has helped with the identification of genetic mutations responsible for various forms of cancer.

Beyond the Human Genome Project, bioinformatics still has a significant impact on cancer research in a variety of ways. For example, researchers can use it identify genetic mutations with associations to cancer development, or to tailor personalised cancer treatments based on individual genomic profiles. Also, it can help with predicting survival in cancer patients via signature generation as demonstrated by our sample bioinformatics report, available via the form below:
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This data analysis report details the generation of a breast cancer survival classifier. This classifier was built using patient clinical information in combination with gene expression and copy number variation data from the publicly available METABRIC data set. Three modelling approaches were assessed: elastic net, random forest and XGboost.

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Further Benefits of Bioinformatics in Healthcare

The Human Genome Project is just one example of bioinformatics playing a profound role in healthcare. However, the influence of bioinformatics in healthcare extends far beyond this.

Microbiome Research

Bioinformatics assists greatly with the study of the human microbiome. In fact, bioinformatics was used throughout the Human Microbiome Project to analyse the microbial communities of the human body. Microbiome research has a significant impact on healthcare as it investigates how microorganisms in and on the human body impact our health. For example, there are links between microbiome imbalances and various health conditions, such as gastrointestinal disorders, obesity and even mental health issues.

View an example bioinformatics data analysis report for microbiome research.

Epidemiology and Disease Surveillance

Bioinformatics is very important when it comes to disease surveillance. This is because it enables the analysis and interpretation of biological data such as genomic, clinical and epidemiological data. Therefore, bioinformatics can assist with pathogen identification and tracking, epidemiological analysis, vaccine development and genomic surveillance of drug resistance.
In fact, bioinformatics played a vital role during the COVID-19 pandemic, when it was used to track the transmission and evolution of the SARS-CoV-2 virus. The Nextstrain project, a bioinformatics platform which tracks the virus’s genetic variations, is an example of this.

Functional Genomics and Proteomics

As bioinformatics helps us to understand to understand the function of genes and proteins, it allows us to uncover insights about genes and proteins which can improve healthcare. For example, bioinformatics played a vital role in identifying the BRCA1 and BRCA2 genes, which are associated with an increased risk of hereditary breast and ovarian cancer. Thanks to researchers identifying the genes, genetic tests to identify mutations in these genes are now available. These tests allow people with a family history of breast or ovarian cancer to assess their risk of developing the same cancer, and make more informed decisions about preventative measures.

The Future of Bioinformatics in Healthcare

It is evident that bioinformatics has already had a clear impact on healthcare, and as healthcare research advances, it will continue to do so.

One particular area of healthcare we can expect to advance due to bioinformatics is precision medicine (also known as ‘personalised medicine’). Precision medicine is the customisation of health strategies, including prevention measures as well as treatments, based on an individual’s genes, lifestyle and environment. Precision medicines are already used in healthcare currently. For instance, the drug ‘Imatinib’, for the treatment of chronic myeloid leukemia (CML) is an example of a precision medicine. It targets the Philadelphia chromosome, a genetic abnormality which is often present in CML patients.

However, precision medicine is still an emerging field. We still have much more to learn and many more precision medicines to develop. So it is clear that still bioinformatics still has a role to play in advancing precision medicine. As more research is conducted, bioinformatics will be used to analyse vast amounts of genetic and clinical data. These analyses will play a pivotal role in the future of precision medicine, by analyzing vast amounts of genetic and clinical data to tailor treatments, predict disease risks, and optimize healthcare decisions. In turn, researchers will develop more precision medicines, leading to more effective and personalised healthcare.

Advancing Your Research With Bioinformatics

At Fios Genomics, we have bioinformatics solutions tailored to a variety of fields including drug discovery and development, infections and vaccines, as well as for agricultural and environmental applications. We have 15 years of experience analysing biological data sets of all sizes for clients ranging from large pharma to budget-conscious academic institutions. Our friendly team are always happy to advise on the most suitable bioinformatics analyses to reveal the hidden insights in your research data. So, if you have a question about bioinformatics, a need for bioinformatics analysis or would simply like to learn more about our services, do not hesitate to contact us. We are happy to help!

Author: Breige McBride, Content and Social Media Manager, Fios Genomics
Reviewed by Fios Genomics Bioinformatics Experts to ensure accuracy

See Also:

How to Reduce Animal Testing with Bioinformatics

Bioinformatics and the Pharmaceutical Industry

Examples of Biomarkers and Biomarker Data Analysis

Genetic Variation Analysis



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