Seven years ago this month, scientists revealed the map of the entire human genome—the genetic material contained in human cells which provide the “instructions” for creating a human being. Since then the promise of genomics has outpaced what its practitioners could realistically deliver.
In 2007, however, the field witnessed a number of notable developments. In February, the Food and Drug Administration (FDA) approved MammaPrint—a test manufactured by Agendia which surveys 70 genes in the tumor cells of breast cancer patients and determines if those genes are turned on or off. Doctors then use this information to determine if the cancer is likely to spread and decide whether the patient needs to undergo more chemotherapy or surgery. (If universally applied, Agendia claims 60,000 women would avoid unnecessary chemotherapy every year.)
In September, the FDA allowed genetic testing to help patients gauge the best dosage for warfarin (Coumadin) based on the presence of two individual genes. The result is that patients will be able to use the drug more effectively by minimizing the risk that the drug—which is used to prevent clotting—could cause their blood to get too thin and result in bleeding problems.
Progress in the field was not merely limited to the identification of individual genes related to certain diseases or risk factors. In July, 454 LifeScience sequenced James Watson’s (one of the scientists who worked out the structure of DNA molecules) entire genome, and in September, Craig Venter, the founder of Celera, published his entire individual genetic sequence and invited the world to look at it over the Internet.
Later still, a new start-up, Knome, announced it would begin offering to sequence a person’s genome and have a group of specialists analyze the results (for a mere $350,000). And in December, Nanosphere went public and saw an initial spike to its stock price based in large part on news that the company’s new molecular diagnostic testing technology could rapidly and inexpensively test for certain genetic markers.
In spite of these advances and other breakthroughs—genetic testing, for instance, is very effective at identifying cystic fibrosis—the field is still in its infancy.
The problem with most genetic information is that its predictive value is relatively weak at this time. Only rarely do single genes cause certain diseases. More often, multiple genes—if not hundreds and possibly even thousands—are working together in yet unknown ways to influence a person’s health. To add to this confusion, environmental factors and personal lifestyle choices also play a strong role in many diseases. Even armed with new information—such as the role single-nucleotide polymorphisms (SNPs) play in individual disease—and lower cost, faster and more effective diagnostic testing technology, sorting out all this new genetic information will be a laborious process.
The problem can be illuminated with a simple example. Some companies now claim that possessing the gene, TCF7L2, doubles a person’s risk of contracting Type 2 diabetes (from 7% to 14%). This is good information to know, especially if you lead a lifestyle that favors the onset of Type 2 diabetes. However, a comprehensive study of over 1000 people with the gene found that 80% of the people with the gene didn’t get Type 2 diabetes. To further muddy the waters, 40% of people who develop Type 2 diabetes don’t possess the gene.
And therein lays both genomics promise and its peril. In certain situations, genetic information can lead people to take preemptive action. In other situations, though, it is not clear what action—if any—a person should take based on the information. The trick is in determining when action should be taken. And unless people have a good understanding of statistics, probability and risk analysis; the findings can be exploited in ways that generate a great deal of confusion as well as cause unnecessary concern.
The situation is likely to get much worse before it gets better. In 2007, a handful of companies including decode Genomic, 23andMe and Navigenic, all began providing genome-wide DNA analysis to the general public.
This coming flood of genetic information is one reason why the U.S. Government Accounting Office (GAO) felt compelled to issue a study last fall warning Congress and the American public about how consumers were being misled into believing that they were at greater risk of suffering from a variety diseases based on genetic information. In one case, the GAO audit found customers being sold “nutrigenomic” supplements for $1200 (to counteract diseases for which they were already at low risk) which they could have purchased off-the-shelf for $35.
The bottom-line is that genetic information is getting better and the field is rapidly maturing, but the widespread commercialization of truly effective genetic testing is premature at this time. Health care professionals can expect to continue to hear a good deal more about genomic tests and their immense potential in the year ahead, but I’d caution readers to take most of the information with a healthy dose of salt.
The learning curve before both genomic companies and consumers is vast and it is likely that the federal government will get more involved in the coming years in a regulatory role in an effort to keep companies from over promising results and to keep consumers from taking costly actions which may lead to only negligible improvements in health.
In this way the situation is not unlike the Wild West of the mid-19th century. There are legitimate pioneers seeking to settle the land—and they will in time. But in the rush to settle this fertile territory it will be difficult to keep people from rushing willy-nilly into the area in hopes of discovering better health as well as to keep out snake-oil salesmen from pitching their products to those same people. The government will provide some minimal protection but, for the time being, individuals are really on their own and need to exercise extreme caution before wading too deep into the field.
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Jack Uldrich is a writer, futurist, public speaker and host of jumpthecurve.net. He is the author of seven books, including Jump the Curve and The Next Big Thing is Really Small: How Nanotechnology Will Change the Future of Your Business. He is also a frequent speaker on future technology and future trends, nanotechnology, innovation, change management and executive leadership to a variety of businesses, industries and non-profit organizations and trade associations.
