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.
Unfortunately, the same cannot be said about the number of qualified individuals who will be expected to put this vast data into everyday practice. Just when the field of medical genetics is needed the most, professional interest has waned. At “Banbury Summit,” a gathering of concerned professionals in October 2004, participants reported that the number of physicians choosing to enter the field of medical genetics is small and dwindling. Certifications for medical doctors in clinical genetics have fallen to fewer than 100 each year, and more than half of the available positions for medical geneticists remain unfilled.
There are compelling reasons why the business, clinical, and academic communities should share a concern over this surprising trend. Experts trained in interpreting genetic information and advancing the science of genomics are a vital link in the evolutionary cycle of healthcare. Today’s medical geneticists are the standard-bearers who will help educate the rest of the medical community and pave the way for widespread clinical and cultural adoption. This, in turn, will encourage the business community to continue to invest in this burgeoning field, develop ever-advanced technologies, and bring new genetics-based therapies to life.
Medical geneticists will be called upon to help interpret and navigate genetic diseases much differently than is done today. Within the scientific community, there is compelling evidence that there are few, if any, true single-gene disorders. In the future, all diseases will be understood, appreciated, and treated as multisystem genetic disorders. As such, a dual role will emerge for medical geneticists—as practitioners who see patients with genetic disorders and as the reservoirs of knowledge and experience who oversee the deployment of this approach to the medical community.
To cultivate the next generation of medical geneticists—and to accelerate the era of personalized medicine—the collaborative efforts of government, academe, and industry will be required. At the Harvard Medical School-Partners Healthcare Center for Genetics and Genomics, we realize that this takes more than simply a commitment to train future scientists. We must also inspire.
We believe in training a new generation of medical geneticists and are calling on others in the field to help us in that mission. We must strengthen the medical genetics training programs with adequate support to recruit the best in the profession. Each of the programs must be rigorous and provide training in all aspects of genetics including the increasingly important adult genetics. We must promote joint training programs such as those between genetics and pediatrics or internal medicine or pathology. In addition to programs leading to Board certification, it is important to develop methods to provide intensive training for residents in different specialties who might be interested in genetics.
A follow-up to the “Banbury Summit” took place last year to develop workable solutions to the crisis in medical genetics. These include encouraging greater participation in the field, strengthening the core training of medical genetics, and actively partnering with other medical specialties.
By shining a light on the major role that medical genetics plays in this new era, the biomedical community can recognize the changing face of the field. But more importantly, we can inspire future generations of physicians and scientists to push our knowledge even further, improve on today’s advancements, and usher in the next revolution.