The first Annual Consumer Genetics Show in Boston last week, reminded me of the First Automobile Show, New York City's Madison Square Garden, November 1900. ‘The Grandmother of all Auto Shows' presented vehicles to a world with no highways or navigation tools. A world with barely any road signs, because people rarely wandered outside of their well known realm. The show organizers built a ramp for cars to climb so as to demonstrate that cars can go uphill, even if no horse powers them. You could call the car manufacturers who presented there dreamers, but such dreamers, fueled by ambition, adventure, a flare for novel ideas and, let's face it, the desire to make a buck, are what pushes the world forward. The world was not ready for those vehicles, and yet, a century later, automobiles prevail, as do highways, roadmaps, and posh British accent GPS devices.
Is our world ready for direct to consumer genetic testing?
My previous posting suggested that consumers may not be properly equipped to know what they are bargaining for. Especially when they seek certainty and clear cut answers, and receive probabilistic risk assessments, which may or may not involve behavioral recommendations.
In past years, the consumer would never be the one to instigate these inquiries. It was the health professional's responsibility to alert you of dangers and to test for various conditions. Consumers, savvy as they might be, cannot navigate through testing results without professional assistance. And even when such assistance is available from testing companies, one needs a physician to order additional testing, to prescribe medication, and to follow-up over the years.
Yet such medical surveillance from one's primary care physician, or even from specialists, paid through one's health insurance, is not necessarily available. .
One of the impediments is legal, even though the genetic safety law, slightly over one year old now, works to ensure that none will be discriminated based upon genetic information. After 13 years of congressional debate, President George W. Bush signed the Genetic Information Nondiscrimination Act (GINA) on May 21st, 2008. The law was initiated by a great concern that insurance companies will demand genetic knowledge, and that employers might wish to base hiring and promotion decisions on such information. The bill had passed the Senate unanimously and the House by a vote of 414 to 1, and guarantees that no American will be thus discriminated by insurers or employers. Lawyers do not know of lawsuits that have been filed so far, yet as long as medical insurance companies can decline to accept you based on preexisting conditions, it may not be wise to disclose to one's doctor anything remotely incriminating, which would go on record.
And this is not the only problem about incorporating physicians in the process of sorting out and acting upon genetic screening results their patients went out and bought. Granted, physicians have long known that genes determine or influence conditions, but, for the most part, this knowledge was partial and seldom had to be acted upon. The technological ability to scan for thousands of genes does not mean all physicians have updated their knowledge. To illustrate, one of the scientists at the conference had presented her genetic mapping and inquired her doctor whether she was homozygote (that is, carrying two identical genes) or heterozygote (carrying two different genes) for a condition. He stared at her blankly and said "let me get back to you on that one."
Determining whether direct to consumer genetic tests are good or bad for you is more complex than it may seem. And it may very well be time dependent. What now seems strange anecdotal, or, to put it more favorably, partially beneficial, may be common practice in the future, when analyses have been made aggregating genetic, behavioral and environmental factors to present a complete picture of risk and its prevention. Sometime in the future consumers will be fully aware of what genetic testing entails, and their doctors will be fully equipped with the knowledge allowing them to integrate testing into scientifically sound practices. Companies, by the way, know this. My talk on research I've been doing regarding breast cancer screening was met with general acceptance, even though I showed that people often misunderstand risk probabilities, and have unrealistic expectations of tests.
Moving forward in time from the Automobile Show, consider the Kevin Costner movie Field of Dreams. He builds the field, and, sure enough, they come, ‘they' being the ghosts of baseball players past. Direct to consumer genetic testing companies are currently building the field, not for ghosts, but for the future. Sure enough, sometime in the future, their consumers, and the entire medical field, will follow.
