Guest blog by Keyan Salari, PhD Candidate at Department of Genetics, Stanford University School of Medicine and MD Candidate at Stanford Medical School
“It’s far more important to know what person the disease has than what disease the person has.”
The importance of personalized medicine has long been understood in the medical profession. Physicians routinely take into account a patient’s environmental, behavioral, and genetic factors of disease and drug response in their clinical practice, but until recently the granularity at which genetic risk has typically been assessed has been the family history and ethnicity. However, in the near future high-throughput genotyping and DNA sequencing technologies may dramatically change the way physicians assess genetic risk, and give personalized medicine a new meaning.
In an article published this month in Nature Biotechnology, Stanford engineering professor Stephen R. Quake described the decoding of his own genome for less than $50,000 using a machine built by a company he founded, Helicos Biosciences. Dr. Quake noted that steadily declining costs of DNA sequencing “will democratize access to the fruits of the genome revolution” by enabling many labs and hospitals to decode whole human genomes. Similarly, in June of this year, genomics technology company Illumina announced the launch of a $48,000 genome sequencing service at the Consumer Genetics Conference in Boston. However, unlike most consumer genomics companies, Illumina’s service will require a physician’s prescription. While the price tag is still out of reach for most consumers or healthcare payers, the cost of DNA sequencing is falling faster than that of computing power. This means that the much-discussed goal of the $1,000 genome could be attained within two or three years. Provided the cheaper and better technologies translate to new clinically relevant findings, physicians may soon see a new array of gene-based tests, or perhaps even whole genome sequencing, become reimbursable clinical tests.
Today, companies like 23andMe, among others, are offering direct-to-consumer testing for common genetic variants. The advent of consumer genomics will certainly increase the demand for genomics-savvy physicians. But more importantly, clinicians stand to greatly benefit from the incorporation of genomics and pharmacogenomics into their own clinical practice. Already, studies showing how specific genetic variants can alter a patient’s response to drugs have led the US Food and Drug Administration to change the label of warfarin and clopidogrel (Plavix). The labels now suggest that a patient’s genetic variants should be taken into account when dosing the drugs for optimal safety and efficacy. While the potential for genomics to influence clinical practice is huge, the benefits will only be realized if physicians are poised to take advantage of them. To that end, medical education needs to be revamped.
For three years, I have served as a teaching assistant for the human genetics course required of all first-year students at Stanford Medical School. Birthplace to the DNA microarray, among other genomic technologies, I imagined Stanford would be an ideal place for medical students to learn about such paradigm-shifting technologies and their impact on clinical medicine. But despite their juxtaposition just two floors below the Department of Genetics, medical students have been lectured on basic principles of genetics with little mention of advances made over the past two decades. Hearing similar anecdotes from colleagues at several other US medical schools led me to the medical education literature, where I learned that this gap in medical education is widespread and must be addressed.
Several organizations have begun to develop learning objectives and competencies in genetics for all health professionals, as highlighted in the article I just wrote for PLoS Medicine. I argue further that physicians should have several additional competencies to fully realize the potential of genetic information in advancing personalized medicine. To in part address this need, I have been working with several faculty members across the School of Medicine to design and implement a new course for medical students on personalized medicine. The course will focus on recent advances in genomics and pharmacogenomics, and how to incorporate genetics into clinical practice. We hope the course, among the first of its kind in US medical schools, will encourage other medical schools around the world to follow suit and help close this gap in medical education.