What medical discoveries, healthcare breakthroughs and disease transparency will be realized through the maturation of DNA and RNA data sequencing technologies? How could harnessing big healthcare data help us better understand and even prevent diseases? What would the experience of truly "personalized medicine" look like in our day-to-day?
Bioinformatics lies at the heart of these big questions, an emerging, interdisciplinary discipline that deploys innovative uses of data science, statistics and quantitative methods to the areas of medicine and biology in order to solve big human and public health challenges. Bioinformatics, also called biomedical informatics, involves the development of software tools, programming, and use of advanced data analysis methodologies to glean insights from biological data, especially complicated or massive data sets. One of the most common applications of bioinformatics, for instance, is in the "omics" fields like genomics, which seeks to study, sequence and map the genetic information of organisms ranging from human beings to bacteria.
With research funding support from the National Library of Medicine, Rice University researchers are proud to offer a leading Ph.D. training program in biomedical informatics and data science. Program Director Dr. Lydia Kavraki offers this perspective on bioinformatics, built upon decades of experience:
Biomedical informatics broadly encompasses the design and implementation of novel methodologies and technologies to solve challenging problems across the entire spectrum of biology and medicine...I cannot imagine dealing with biomedical problems in the future without strong foundations in computer science, statistics and data science.
In this article, we'll consider some applications of bioinformatics, compare and contrast similar disciplines, and review careers related to bioinformatics.
Benefits of Bioinformatics
What is the importance of bioinformatics today? What benefits will society realize by investing time and resources into the study and discipline of bioinformatics?
Between the 1980s and early 2000s, huge strides were made in the Human Genome Project and other genome mapping projects. As these projects sprung up around the world, researchers started to grapple with the massive amounts of valuable and sensitive data -- for example, DNA sequencing data -- that needed to be stored, processed, securely shared, and built upon as a medical research community. Advanced computational tools and processes like programming, massive secure databases and algorithms were required to harness the power of the biological data.
Today, bioinformatics is integral to the advancement of biomedical research, effective medicine, healthcare, and public health worldwide. Bioinformatics has the potential to revolutionize our core understanding of biological processes, with endless applications to improve quality of life.
Let's consider a few of the primary benefits of advancements in bioinformatics. 3 benefits include: 1) Advancement of medical discovery and development of treatments, 2) Disease monitoring and prevention, and 3) Improving the overall effectiveness and precision of clinical medicine.
Benefit 1: Harnessing Big Data for Early Detection and Development of Medical Treatments
In many ways, we're living in a golden age of medicine. Data science methods, big data predictive analytics, and machine learning algorithms are enabling new breakthroughs in health prediction. Equipped with advanced tools, doctors and their medical teams are learning how to identify patterns and anomalies in data, detecting diseases much earlier than was previously possible. These include lung and breast cancer, autoimmune diseases, liver diseases, Zika virus, and more. In many cases, the earlier these diseases are identified, the faster they can be treated and the better the patient's chance of defeating the illness.
Using data science methods and big data tools, Rice University researchers and collaborators seek to develop and implement innovative open source bioinformatics methods, software and pipelines to help ensure extensive banks of metagenomic data are available to organizations wanting to develop novel medical research, treatments and drugs.
Benefit 2: Infectious Disease Prevention through Sophisticated Data Monitoring & Tracking
Consider the tremendous global loss of the Covid-19 pandemic and the need to put measures in place to rapidly identify and suppress future pandemics before they spread. Since the start of the Covid-19 pandemic, there have been 665 million confirmed cases, including almost 7 million deaths worldwide, reported to the World Health Organization as of January 2023.
Genomics and its associated bioinformatics "playbook" can now be applied to future pandemic monitoring and prevention, capturing and analyzing big data to monitor and track the emergence of infectious diseases and prevent future pandemics.
Benefit 3: Fueling the Rise of Personalized, Precision Medicine
With significant advances in DNA and RNA sequencing, popularized by consumer DNA genetic testing, we're on the precipice of a new consumer healthcare experience. In the not too distant future, doctors will practice precision medicine, defined as the tailored treatment of each individual's disease based on the disease's molecular profile.
Bioengineers at Rice University are developing new technologies to help clinicians and other researchers enable and implement personalized, precision medicine.
Data Science, Big Data and Bioinformatics
Bioinformatics is the application of data science techniques and skills to the fast-evolving areas of modern medicine, biology and biotech. Why does data science matter within the field of bioinformatics, or medicine more broadly? A cooperative of Rice University researchers and other members of the medical community explain the relationship between data science, healthcare and medical innovation:
Digital information streaming from innumerable sensors, instruments and simulations is outrunning our capacity to accumulate, organize and analyze it for making healthcare decisions. We need fundamental progress in biomedical informatics to exploit the full wealth of knowledge embedded in genomic, proteomic, genetic, epidemiological, and clinical data and gain a full return on our substantial investments in health information technology.
- Gulf Coast Consortia, one of the largest inter-institutional cooperatives in the world with a focus on biomedical informatics and data science training
In aggregate, this deluge of metagenomic and biological data -- commonly known as "big data" -- is far too large and expansive to process, analyze, share or store via traditional methods or software programs. Advanced computational tools like machine learning algorithms and secure storage of sensitive big data is required to fully realize the potential of this treasure trove of information.
Data science methods can be applied to virtually any research area, industry or sector, so in this case, Data Scientists could work in specialized areas such as:
- Health care/clinical informatics (personalized medicine)
- Translational bioinformatics
- Pandemics and infectious disease monitoring
- Genome bioinformatics (including cancer genomics)
Biotechnology and biomedical engineering
- Investigative toxicology
- Medical innovation and pharma drug discovery
- and more
Bioinformatics Career Paths and Salaries
Bioinformatics and Health Data science is a burgeoning career space. Aspiring data professionals should consider whether they initially want to work on the academic research side or the biotech, medicine and healthcare industry side.
Whether one pursues academia, industry, or both throughout their careers, there are many opportunities to collaborate and to make a difference through research and discovery, development and iterative testing, implementation, or data tracking and monitoring.
Here's a list of sample Bioinformatics and Health Data Scientist job titles, role overviews and approximate salaries.
Differences Between Bioinformatics Job Titles and Salaries
|Bioinformatics Job Titles||Brief Description||Approx. Avg. Annual Salary|
|Bioinformatics Data Scientist (or Health Data Scientist)||Use their analytical, statistical, and programming skills to collect, analyze, and interpret large data sets to improve medicine and healthcare||$136,283|
|Bioinformatics Engineer||Develop software systems and big data solutions to improve outcomes for researchers, doctors, nurses and patients||$134,572|
|Senior/Principal Scientist, Data Analysis||Steward the strategic use of big data and data science methods within an organization to help transform medicine and healthcare||$233,011|
|Machine Learning/AI Scientist, Biotech||Use cutting-edge AI/ML solutions for research and development||$138,094|
|Biostatistician||Conduct evidence-based research and statistical analysis to develop medical treatments and solutions||$96,373|
|Computational Biologist||Design and analyze large-scale genomic and other health datasets to prototype new technologies||$77,546|
|Bioinformatics Programmer / Programmer Analyst - Human Genetics||Developing and implementing algorithms to automate the design of multiple “omics” data types||$62,000-82,000|
|*Sources: Indeed.com, Glassdoor|
Advancing Your Data Science Career with Rice University
Rice University is across the street from the Texas Medical Center, one of the most productive hubs of medical and healthcare innovation in the world. Within Rice's Master of Data Science online program, graduate students will have the opportunity to complete their Capstone course using real-world data sets, including data from healthcare non-profits and governmental institutions.