A 39-year-old woman visits her doctor with a lump on her breast and a family history of breast cancer. After a biopsy, she is diagnosed with stage 2 breast cancer. The medical community names her: "Welcome, Ms. Stage 2 Breast Cancer, please have a seat in the waiting room." Ms. Stage 2 Breast Cancer undergoes a full mastectomy, chemotherapy, and then radiation.
Unfortunately for this patient, she also has a deletion in the tp53 gene—a tumor-suppressing gene—that will cause her to develop ovarian cancer two years later, leukemia three years after that, and lead to her death before age 45. Regular full-body scans may have significantly increased the length of her life. Doctors could have treated the other cancers sooner. But no one knew. After all, her disease had a name, and with a name, comes a course of treatment.
When we name diseases, we can do unintended harm to sick people. And it’s not just because of the stigma that comes from having a disease like HIV or breast cancer. Naming a disease places the sick individual in the hands of a medical system that knows how to treat said disease based solely on its name. The patient becomes a "non-small cell lung cancer" patient or a "relapsing-remitting multiple sclerosis" patient. Treatment ensues based on that diagnosis—all too often with blinders on.
All the while, the biotechnology industry has undergone a tremendous upheaval in technology development that is unparalleled in human history. The price to sequence a single letter—or "base"—of DNA has fallen 100 million-fold since the heyday of the Human Genome Project, the U.S. government-coordinated effort to identify all of the 20,000-plus genes in human DNA that was completed in 2003. This rapid pace of progress is a million times faster than Moore's Law, the famous prediction that the storage capability of integrated circuits used in the electronics industry doubles about every two years.
Whereas it took nearly 15 years and $3.8 billion to sequence the human genome during the Human Genome Project, gene-sequencing companies now can perform the same feat in a week for less than $10,000, and costs are still rapidly falling.
This cheaper, faster way of sequencing human genomes used to be done mainly in research labs, but now is beginning to transform modern medicine. Take the example of Alexis and Noah Beery, the now 14-year-old twins who were diagnosed with "cerebral palsy" at age 2, indicating a future of abnormal muscle tone, twisted reflexes, unsteady gait, intellectual disabilities and chronic pain—with no hope for a cure. The medical community named them "children with cerebral palsy."
As the Beery twins grew older, their parents sensed that the symptoms didn’t match the diagnosis. So they decided to order up a whole-genome sequencing of the twins. What they found was stunning. The brother and sister had a series of mutations in a gene responsible for producing serotonin, a rare condition known as dopa responsive dystonia. Placed on a serotonin precursor drug—a relatively simple treatment—the children, once condemned to a life of profound disability, are effectively normal.
Virtually no one has heard of the disease the twins have; its name doesn’t conjure up images like Down's syndrome or cancer. It is described, treated, and effectively cured only by understanding specific alterations of their genomes.
There are about 1,200 clinics across the United States that perform genetic tests today for over 2,300 inherited diseases. Each one of these clinics examines a tiny portion of the genome—just a fraction of one percent—to see if a specific genetic change is present or absent. These genetic diagnostic tests represent approximately $3 billion in health-care costs, informing and driving about 50 percent of all treatment decisions in the $5.5 trillion global health-care market. Typical tests range from several hundred to many thousands of dollars.
Now imagine for a moment that your entire genome had been sequenced. Suddenly, every one of these genetic tests can be performed simply as a query in a software application. Today, genome sequencing costs less than $10,000, but some experts predict the price soon will drop below $1,000.
How will this change medicine in a few years? As the cost of sequencing an entire genome drops to about $1,000—roughly the cost of a typical MRI exam today—suddenly the test will become affordable for millions of people. Genomic information will become a universal diagnostic, as much a part of your medical record as an electrocardiogram, chest X-ray or blood panel. In the hands of an educated clinical geneticist, pathologist, or oncologist, the technology can finally be used to make health care predictive, preventive, personalized and participatory.
This personalized approach means that patients with very different forms of a disease—or not even the same disease—will no longer be lumped together under one name (i.e. "Ms. Breast Cancer Patient," or "Mr. Alzheimer’s Patient"). Patients will become individuals, with more control over their own medical destiny.
If you or anyone you know is diagnosed with a disease of a certain name, you may want to think about what your ailment should really be called.
Richard Resnick is CEO of Genome Quest, a Westborough, Massachusetts, sequence data management company that helps life science organizations realize the full promise of genomics.
[Image: Flickr user net_efekt]