Human genetics has experienced two revolutions. One was the recognition that much of human health and disease has a genetic basis. The second revolution, which came through the efforts to map and sequence the human and other genomes, was the technology to rapidly identify genes that are important for many diseases. These modern advances have helped us understand the genetic basis for many cancers, and advances continue to be made to identify genes involved in such vexing diseases as Parkinson’s, Alzheimer’s, and also in mental disorders.
A third revolution, currently underway, is the use of genetic and genomic information for diagnosis, prognosis, and treatment. This is the personalized medicine revolution, or the use of genetic testing in making clinical decisions.
Life science companies and media often focus on the technologies that enable us to practice personalized medicine. But often left out of the dialog is the human capital that will truly allow these advancements to be put into practice. What good are all these technological advances if there is no one to put them into clinical use?
The decreasing number of professionals entering the field of medical genetics is cause for collective concern across the biomedical community. Without a qualified cadre of experts, we could be building an armada only to find that no one knows how to sail. Failure to address this shortage will have financial, scientific, and clinical implications.
While personalized medicine is sometimes characterized as a future endeavor, it is having an impact on disease management and the healthcare marketplace today. In the business sector, large pharmaceutical companies are experiencing the pains of patent expiration and safety issues associated with the blockbuster model of drug making. Meanwhile, traditional genomics companies seeking investors are realizing that the potential of new discoveries is not as compelling as the provision of products. This mandate is leading each to consider new types of partnerships and diagnostic–therapeutic collaborative business models.
Already, there is substantial growth of the business of genetic medicine. Large pharmaceutical companies continue to invest in biotech endeavors and at earlier stages of clinical testing. The promise of genetic medicine has fueled unparalleled levels of pharma-biotech partnerships, as well as the emergence of bio-bio partnerships, speaking to the maturity of the biotech sector.
Without question, the biomedical community has entered an era in which genetic information has become integral to the diagnosis and treatment of a range of diseases. The healthcare profession is transforming to include the vast amount of information that genetics and genomics can yield for use in a clinical setting.
That amount of information is staggering and keeps getting larger. As of a year ago, the members of the International Nucleotide Sequence Database Collaboration had together collected and disseminated 100 gigabases of genomic sequence data—about the same as the number of neurons in an adult brain. Simultaneously, the price to sequence a human genome has fallen one hundred-fold in a few years. As sequencing costs continue to decrease, the amount of available data is certain to skyrocket.