By DRS. DAVID NIESEL AND NORBERT HERZOG
The invention of biology itself was revolutionary, and the field has undergone several revolutions in the past two centuries. Now, advances in biomedical science have us on the verge of the next game-changer: precision medicine, a personalized approach to medicine that accounts for a person’s individualized variation in their genes and genomic sequence, environment and lifestyle.
The long-term goal of President Barack Obama’s Precision Medicine Initiative will be to create a group of more than 1 million Americans who will provide access to their genetic data, biological specimens and lifestyles that will be linked to their electronic medical records. This will lead to physicians selecting the right drug and dose for each patient and identifying new treatments and prevention techniques.
There are a few elements driving the push for personalized medicine. First, this amount of data is staggering, and until recently we did not have the software to make sense of this scale of data. Routine and accessible software tools are now available for this type of analysis to a large number of research and medical groups.
Second, we have developed a detailed view of the human genome from its first version in the early 2000s. We now understand how some of the variations in our genes distinguish us as individuals. These genomic changes also could explain why some people develop cancer and others do not. Such small variations in gene sequences also explain why drugs are more effective in different people.
A third factor that has made precision medicine possible is the reduction in the cost of sequencing an entire human genome. While the initial effort of sequencing the human genome required $1 billion and 10 years of work by many scientists, today a person’s genome can be sequenced in one day by a single lab for as little as $1,000.
Fourth, the development of electronic medical records, or EMR, has had an incredible impact on our ability to identify disease. An extensive EMR combined with genomic sequencing has allowed us to identify specific changes in the sequence of a gene and its relationship to a disease state. As a result, we have become more precise in describing a disease. For example, a few years ago, we described cystic fibrosis as a single disease. Now we know it results from more than 1,000 different mutations, which can be grouped into eight different disease groups.
Finally, there has been a quantum shift in America’s attitude toward individual medical data collection. The Genetic Information Nondiscrimination Act of 2008 prevents most types of discrimination against someone based on the information in their genome, and in 2013 the U.S. Supreme Court ruled that natural DNA cannot be patented, keeping the market for genome collection and sequencing open. Citizen science has emerged, where individuals contribute their medical or genetic data to these large projects and share in the information that is gleamed from their participation.
Thanks to precision medicine, in the future the quality of care will increase as it is individualized for each person.
Medical Discovery News is a weekly radio and print broadcast highlighting medical and scientific breakthroughs hosted by professor emeritus Norbert Herzog and professor David Niesel, biomedical scientists at the University of Texas Medical Branch at Galveston. Learn more at www.medicaldiscoverynews.com.