Direct to Consumer Genetic Testing, Essay Example

The goal of science, especially the science of medicine, has always been to improve the quality of human life. The federal Human Genome Project (HGP), which was begun in 1990 and completed in 2003, has given scientists an incredible amount of information regarding the human genome and its role in health and disease. Many had hoped that this information would result in an end to disease as we know it. The hope was that through the examination of a persons genome, researchers would be able to detect the signs that a person would eventually contract a disease, such as cancer or Alzheimer’s. While this goal is lofty and admirable, it is, as of today, still far beyond the ability of science. As it turns out, genes and their relationship to disease is far more complex than was ever imagined. While it is possible to find connections between disease and genetic mutations, whether or not a person will eventually contract the disease depends on a host of other interactions, many of which are still a mystery to scientists. Despite the shortcomings of the science of genetic testing, this has not stopped independent companies from springing up literally overnight to offer their genetic testing services to whomever has the money to pay for it.  There are a number of ethical questions that have arisen with the advent of personalized medicine and personal genome mapping and it is clear that while there may be many benefits of personal genome mapping in the future, the businesses that thrive off of it today are not necessarily giving patients their money’s worth.

The public is all too often unaware of the limits of genome mapping. When in 2003 researchers announced that the human genome had been mapped, there was a false sense of security that nature’s mysteries would soon be solved and the human genome soon give up all its secrets on life and death. Sadly, this is not the case and in fact, mapping the human genome has in some cases given rise to more mysteries than answers. This is because of the notion that by comparing a persons genome to a standardized genome would allow scientist to see which diseases a person was predisposed to based on mutations in their genes. While a human genome can be mapped and variations noted, the results of genetic tests can vary widely when it comes to risk prediction, even though each is based on reputable science (Clemmitt, 51).” The results of a single persons genome can be widely interpreted depending on the lab that is interpreting it.

Another issue that arises from genome mapping is how individuals will deal with the information that their genes hint that they are predisposed to debilitating diseases. If a person orders a personal genome mapping from a biotech company, there is the possibility they will discover at least one or two deadly diseases that they are predisposed to. According to Dr. Quake on WebMD, “It is all bad news….After all, there is no genetic basis for happiness or athleticism. It’s all about things that make you uncomfortable and ill. You have to have a strong stomach (DeNoon, 1).” The fact that an individual carries genetic variants that are associated with risk of a diseases does not mean that they will necessarily contract the disease over their lifetime. However, the knowledge could cause a person undue stress and worry. Alternatively, not showing genetic variants associated with a disease may give the individual a sense of false security, giving them an excuse to engage in habits and activities that may allow them to contract the disease anyway.

Due to the confusion that can arise from the interpretation of personal genome mapping, scientists such as Dr. Stephen Quake of Stanford University feel that it is necessary for an individual to have the results of their personal genome mapping interpreted by a physician so that the individual can be counseled on what they mean to that individuals health and lifestyle. However, according to WebMD, “Right now there are no requirements for companies that offer gene sequencing to provide…counseling (DeNoon, 2).” While some companies do provide counseling, “no matter what counseling is provided, sometimes [the results of genome mapping] leaves individuals with a  ‘misguided sense of genetic determinism’…and in those cases where individuals, on the basis of a genome profile, discard advice that could improve their health, such testing ‘could have a malign influence (Fox, 1107).”

Also worrisome is the huge amounts of money that are being spent on promoting personal genome mapping despite its limitations in actually predicting disease. Genetic testing for specific genetic diseases, such as Tay Sachs, Cystic Fibrosis and others, are important for pre-natal screening and have proven tract records regarding their effectiveness. However, the big bucks backing up personal genome mapping, such as the companies Navigenics and 23andMe, contend that their services are in fact beneficial and can bring benefit not only to individual’s but can also help to further scientific understanding on disease and its relation to the human genome. The price for personal genome mapping is a key factor as to who and who will not get it. Currently, the price of genome mapping ranges widely depending on the depth of the analysis and services, from just $399 for a simple service form 23andMe to $350,000 for a complete Illlumina genome sequencing platform service from Knome (Fox, 1106). Some genome mapping services require annual fees to keep their services active, “Navigenics not only charges users $2,500 for the initial screen, but also $250 a year for ‘continuous service’ to keep their subscription active (Fox, 1106).” While costs may be high currently, companies are working at drastically lowering the costs, making them affordable to a wider client base. According to Jorge Conde, the CEO of Knome, “In the future, as costs come down and there is new information [to use in interpreting the data], we will reach and intersection in which this service will be more broadly accessible (Fox, 1107).” However, whether or not the interpretation of the data will become more precise in the future remains to be seen.

Currently, there is little government oversight and regulation on the labs in which genome mapping takes place. “While the government mandates that genetic tests be preformed in certified labs, not all are, and there’s little to no oversight of a given test’s accuracy or clinical usefulness (Kalb, 1).” Michael Watson of the American College of Medical Genetics has said that he is “very concerned about the trivialization of genetics (Kalb, 1).” Part of the lure of genome mapping is the desire for control. If we know that we are predisposed to a disease, it gives us a heads up to stop it from occurring, or such is the common reasoning. However, the best science tells us that it is not possible to determine whether or not a person will get a disease based on the information gained from genome mapping, at least not at this point in time. However, smart businessmen have seen the lucrative opportunity to cash in on the public’s desire to control their health through personal genome mapping. The business of genome mapping, it seems, is ahead of the actual science itself.

While in the future genome mapping may be able to give us pertinent and life changing information regarding our health, today the science is still in its infancy and cannot tell us as much as we would like it to. However, this has not stopped profit driven businesses from wanting to cash in on the misunderstanding between genome mapping and disease prevention. Even when counseling is coupled with personal genome mapping results, the implications to the individual can still be negative, causing more harm, at times, than good. While science continues work towards achieving the ability to precisely predict disease based on the results of personal genome mapping, at least to “some extent, hype and hope have surged ahead of understanding (Clemmitt, 52).”  The many ethical implications of personal genome mapping that need to be understood and addressed in order that personal genome mapping become a tool to help an individual develop a healthier lifestyle. While today the science has not caught up with the hype, in the future this is sure to change. Scientists and researchers are devoting lifetimes to unraveling the secrets of the human genome and its role in the lifetime health of individuals and it is assured that the genome will not be able to hide its secrets forever.

Works Cited

Clemmitt, Marcia. “Genes and health” CQ Researcher 21.3 (January 2011): 49-72.  Web. 30 January 2011 <http://www.dnapolicy.org/resources/Kaufman_CQResearcher1.11.pdf>

DeNoon, Daniel J. “$1,000 Personal Genome Coming: Are We Ready?” WebMD. Web. 30 January 2011. <http://www.webmd.com/news/20100429/1000-dollar-personal-genome-coming-are-we-ready>

Fox, Jeffrey L. “What price personal genome exploration?.” Nature Biotechnology 26.10 (2008): 1105-1108. MEDLINE. EBSCO. 29 Jan. 2011. Web

Kalb, Claudia, and Tina Peng. “May We Scan Your Genome?” Newsweek 151.16 (2008): 44. Web 28 Jan. 2011. <http://www.newsweek.com/2008/04/12/may-we-scan-your-genome.html>