As the National Human Genome Research Institute describes it, the Human Genome Project “was one of the great feats of exploration in history.”
Completed in 2003 by the U.S. Department of Energy and the National Institutes of Health in partnership with international organizations, the Human Genome Project set out to sequence the three billion units of DNA that make up a human genome and to identify all genes located within that enormous dataset.
The project was a tremendous success, completed two years ahead of schedule and under budget. It yielded a treasure trove of data that has the potential to completely revolutionize medicine, and it has already significantly changed the way clinicians approach treatments for certain conditions.
Initially, researchers hoped to identify specific genes that caused common diseases, but they found that the answer may be more complex — that diseases develop when multiple genes interact. And while there are no simple answers, the project expanded the body of medical knowledge exponentially.
The task now is for life sciences professionals and healthcare decision-makers to access this rich vein of data to conduct their own feats of exploration, using information from the Human Genome Project and other sources of pertinent data to innovate, make more informed decisions and demonstrate value to key stakeholders. Such feats of exploration are already well underway, and many experts consider genome-based medicine — also known as personalized medicine — the future of healthcare.
It is a logical progression now that data has yielded insight into how human genetics influence disease and wellness. In the past, treatment was largely driven by efficacy for the whole population. Studies that were designed to determine which treatments produced the best results for the population drove treatment standards. But while standards of care remain the dominant model for delivering treatment, the ability to tailor care to individuals is overturning traditional notions of what is possible.
People who aren’t involved in the life sciences field are typically unaware of the significance of the Human Genome Project and the evolution of personalized medicine, but awareness is gradually increasing. Of course, genetic testing has been commonplace for years. Patients routinely undergo genetic tests to identify their risk for developing or passing on a tendency to develop conditions like breast cancer or Huntington’s disease. Now life sciences organizations are using a personalized medicine approach to design drug therapies for patients with specific conditions.
Medications to treat clinical depression are just one example: Patients with clinical depression react to medications very differently — side effects, efficacy, etc., can vary widely among individuals. Data from the Human Genome Project can help clinicians identify factors within patients’ individual genetic makeup that indicate which medications have the best chance of making a positive difference. It all begins with a simple cheek swab.
When clinicians understand the gene mutation behind a patient’s condition, that can help guide the treatment plan too, offering clues that suggest which types of drug therapy might be the most effective or whether medication may be a better option than surgery. For example, different types of lung cancer respond to therapies based on the molecular structure of the disease. Thanks to innovations by life sciences companies, patients now have access to genetically targeted medications.
But despite the advances in personalized medicine to date, the field is still in its infancy. As the industry evolves and life sciences companies develop more treatments that are as individualized as the diseases they target, organizations must integrate and manage ever-increasing volumes of relevant data. Today, that dataset may include genomic information, patient records, data from clinical trials, research partner data and information flowing in from sources like wearables and social media.
Many organizations are finding that an outsourcing approach to data integration and data management allows their in-house data experts to focus on generating insight and deriving value from data. When integration and management tasks are delivered as a managed service and high-quality data is accessible via a platform that facilitates collaboration, life sciences companies can focus on exploring personalized medicine options that the Human Genome Project and other research make possible.
In the coming years, inspired by genomic and other types of data, life sciences companies will identify new opportunities and develop more lifesaving treatment options that are tailored to individual patients. Treatment standards will evolve to accommodate these new options. And information will continue to play a central role in this revolution in medicine as researchers translate data to better treat disease.
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