Henry Ford, who pioneered the assembly line mass production manufacturing system, once said that a customer who bought his Model T car could have it “painted any colour that he wants so long as it is black.”
Today, of course, Ford cars come in a variety of colors and with an extensive range of options beyond Henry Ford’s wildest dreams.
People are not standardized. Walk down the street in most major cities in the U.S. and you’ll see a rainbow of different color, sizes, and shapes.
Businesses recognize this. The hottest trend in restaurants these days is the fast, casual places like Chipotle where you can customize the meal to your taste with hundreds of thousands of combinations.
Yet somehow, when it comes to medicine, differences among people were largely ignored until very recently. Medicine is standardized and doctors follow best practices, at least initially, for everyone. But, since humans are varied, too often the standards of care results in pure trial and error, adding to the time and expense of treatment.
Since the mapping of the human genome in 2003, medicine has been adapting to new knowledge. We now have the ability to analyze an individual’s genetic makeup and customize an appropriate medical treatment. Of course, it is rarely as simple as identifying one specific gene that causes a particular illness. Instead, using pharmacogenomics, researchers can determine how genes affect the body’s reaction to specific conditions and medicines. We know that people with certain chromosomes do better with a particular drug and have no reaction (or a negative one) with another.
According to Nature, the top ten most-used medical drugs only help between a quarter to 0.04 percent of those who use them. Consequently, doctors are increasingly using genetic tests before prescribing medicine. This helps them find more effective treatments with fewer unexpected side effects.
New research is being developed that considers differences among patients and uses genetics to determine the best treatment. This is especially true for cancer and AIDS patients who benefit from better screening, diagnosis, and therapy.
For instance, the Federal $215-million national Precision Medicine Initiative (PMI) will conduct a longitudinal study to create a database of the genetic information on a million volunteers that could be used to customize medicine by determining what types of people react best to individual medicines. This will be especially helpful at helping those with cancer.
Personalized medicine tailors treatment to your disease risks, your genome, and lifestyle habits. As a result of the Human Genome Project, scientists have identified over 1,800 genes that affect diseases and developed 2,000 tests.
Sequencing for Everyone
If your doctor knew more about your individual genetic makeup and your genetic tendency to develop certain conditions, s/he could better advise you on changes to your lifestyle and even prescribe medication to advert harmful conditions.
While sequencing once was very expensive, a company called Illumina has developed a $1,000 sequencing service. As with most new technology, one can expect the price will decrease over time and with greater volume. And, since this is bleeding edge technology, more regulation and oversight is needed to ensure quality service and interpretation of results.
For these reasons, I think we need a government program to sequence everybody’s genetic makeup and link it to one’s medical history. This would build on the PMI program while providing more information for doctors. Big data techniques could then enable doctors to practice better personalized medicine by finding what solutions helped people with similar genetics to their current patient.
Since one’s genetics do not change over time, it makes sense to do this sequencing early in life so the map can guide care through child and adulthood. Knowing more about genetics could help people avoid events that could trigger genes with negative effects.
Of course, there are dangers. Society would need strict rules about privacy to prevent insurance companies from using this data to determine who to insure or to set higher rates for people with certain genes. The 2008 Genetic Information Nondiscrimination Act (GINA) was a good start, limiting employers’ and insurers’ access to genetic information, but more needs to be done to prevent “voluntary”’ release of this data by imposing exorbitant rates on people who do not surrender it.
We would also need strict rules to prevent people from using this data for non-medical purposes, such as profiling people with a genetic predilection towards criminal behavior. There’s also the potential to misuse genetic data to discourage people with certain genes from reproducing.
Still, despite these problems, there are strong advantages to universal sequencing. Big data techniques grow more effective with larger pools of data, so more entries will allow better matches to an individual’s profile. Universal sequencing will lower costs and avoid the problem of another medical advance that only benefits the rich. And society will benefit when doctors have more information on potential medical issues that could enable patients to avoid costly medical procedures in the future.
Lloyd Marino is founder and CEO of AVETTA Global, an international big data advisory firm. Follow me for more insight on big data opportunities for businesses of all sizes at @lloydmarino. http://lloydmarino.com