Advances in genome sequencing and big data have ushered in a new era of personalized, or precision, medicine. Yet the challenge of this new era lies in bringing data to the point of care to make precision medicine, and eventually, precision health, a reality for all patients.
Health systems play a key role. By facilitating the delivery of genomic data, they have the power to lead the healthcare transformation that’s sure to come. But what’s needed to advance precision health? And what exactly does the future of healthcare look like?
Two new white papers from Quest Diagnostics explore these topics, examining where we’ve been, and where we need to go. From Precision Diagnostics to Precision Medicine to Precision Health assesses what can be done to realize the promise of precision health, while From Genomic Data to Bioinformatics: Accelerating Knowing discussess the types of bioinformatics solutions needed to help health systems stay ahead.
Precision medicine: its past and present
Despite its recent media attention, the application of genetics to medicine is not new, dating back to as early as 1902. Yet it wasn’t until the 1980s that scientists began to hone in on genomics, culminating in the 13-year Human Genome Project. The results of this work laid the foundation for what we now know as precision medicine. The term “precision medicine” was coined in a 2011 report by the National Research Council, which fueled President Obama’s Precision Medicine Initiative in 2015.
Precision medicine has led to vast improvements in patient care—and health—through the development and use of pharmacogenomics, companion diagnostics, cancer treatment and genomics, molecular diagnostics, the study of microbiomes, and noninvasive prenatal testing.
A vision for the future: precision health
Beyond precision medicine is what many are calling precision health. Instead of curing disease after the fact, the goal of precision health is to prevent disease before it even appears.
For health systems, shifting from precision medicine to precision health will require broader thinking and loftier goals. It will also require data that’s actionable—to help optimize patient care. Download the Precision Health white paper.
Harnessing the power of genomic data
Over the past 15 years, next-generation sequencing (NGS) technologies have created an avalanche of genomic data. Today’s labs can sequence a whole human genome in mere days for roughly $1,000. As a result, one study has predicted that by the year 2025, genomics could represent the biggest of big data fields, even larger than that of Twitter or YouTube.
All of this data has immense power, aiding in the identification of disease factors and informing treatment decisions and prevention strategies. Genomic data has led to the development of drug treatment that targets patients based on their DNA sequence—making the greatest strides in cancer treatment—which enables clinicians to provide patients with more effective treatment, sooner.
Bioinformatics infrastructures are essential
Though genomic data provides numerous opportunities, its size and scope present perhaps just as many challenges—from data storage to sharing to developing ways to leverage this data for use in clinical practice. Once genomic data is stored and shared, how can clinicians use it at the point of care to make better testing decisions, make more accurate diagnoses, and prescribe more targeted treatments for their patients?
Bioinformatics is one answer, and solutions are urgently needed. It’s imperative for health systems to invest in new workflows, informatics, and data-analysis techniques. With the right infrastructure in place, the number of clinically useful variants could grow into the thousands, reshaping clinical care, improving diagnosis and treatment, and eventually, keeping more people healthy. Find out how. Download the Bioinformatics white paper.