The study of genetics is one of the most promising scientific fields for understanding familial history, diagnosing fatal diseases, and determining reproductive potential. In the past years, there have been countless advancements that have taken genetic testing from a profound act of laboratory science to a highly accessible profiling tool that is right at the fingertips of the consumer. While most people blindly embrace the explosion of innovation and welcome all advancements in the genetic field, there is a serious lack of recognition to the potential dangers of careless genetic testing. Genetic testing involves documenting the most intimate and telling information about a person and the power of this information makes it a coveted asset. Not only is genetic information pertinent to the recipient of the data, it can also bear consequence to the individual’s entire family, spouse, and future children. The weight of responsibility to protect the information and inform the public about the risks associated with genetic testing falls on law makers, medical professionals, and private genetic testing companies. As it stands right now, the state of information security and public education is far from adequate. With the emergence of new technologies, the sheer volume of genetic information and the access to it is increasing at an alarming rate. Genetic information is a powerful tool but if the scientific community continues without the proper regulation and understanding, people will continue to lose their privacy, receive grave information they can’t control, and make misinformed life-altering decisions. Additionally, with the continued privatization of genetic testing, public laboratories and health care providers are facing serious obstacles obtaining genetic information for research. The vast potential for genetic testing is currently teetering on either taking science to a new level of understanding or destroying citizen’s privacy and preventing the proper usage of valuable information. Without more regulation, we will live in a world where private companies own all genetic information and take advantage of consumers. Genetic testing needs to be more carefully managed and the public needs to be more carefully informed about the negative implications.

Before one can understand the risks of genetic testing, it is important to have a general understanding of what genetic testing is. Genetics are incredibly complicated but for the sake of understanding the underlying risks of testing, only basic knowledge is required. In Jean F. Jenkins and Dale Halsey Lea’s book, “Nursing Care in the Genomic Era A Case-Based Approach” there is a concise explanation of what we know about the human genome and how it relates to genetic testing. The book states, “The totality of the approximately 30,000 genes that humans have in their genetic makeup is called a genome. Genes are contained in chromosomes, and chromosomes are located within the cell nucleus. There are 46 chromosomes in all human cells of the body, and these occur in pairs…The makeup of each gene in the human body, as well as factors determining gene expression, is specified in the DNA of the 46 chromosomes. Each individual gene is made up of a segment of DNA. DNA is a chemical that contains genetic instructions for making proteins needed for proper body functioning.” (Jenkins 7). The way scientists can deduct information about your health is by looking for mutations in genes. When a gene is mutated it means that the DNA instructions are skewed which leads to faulty protein production and therefore faulty cell functions (Caplan 6). Faulty cell functions lead to the development of disease in the body. Geneticists can take a sample of someone’s DNA (usually saliva) and identify which genes are mutated and the probability of the mutation developing into a disease in the patient (Kraves). 

Another important aspect to understand about the risks of genetic testing is the type of legislation that attempts to regulate the access to genetic information and how the information can be used. The most stringent federal law for protecting genetic privacy and preventing genetic discrimination is the “Genetic Information Nondiscrimination Act of 2008”. The law stipulates that no employer or insurer can discriminate based on genetics. (Genetic). The law may seem ideal at first glance but after reading through the actual bill, it is clear that there are numerous loop holes for private businesses and incomplete regulations for insurance agencies. With employers already having access to private medical records and genetic testing becoming more widely available, there are developing issues with employers discriminating in the workplace. Additionally, the law does not cover life insurance, disability insurance, and longtime care insurance (Genetic). There is a clear gap in legislation that dictates what people can do with genetic information which leaves room for potential discrimination. Unfortunately, there is an even larger gap with who can view or use genetic information for research. A Huffington Post article states, “If you go to a clinic or a hospital to have your blood drawn for a diagnostic test or tissue removed, many will keep that bio specimen, and put it or the data derived from it into a “bio-“ or “data bank” for future research. If future research with your specimen or associated data doesn’t include any information that links it back to you (like your name), researchers don’t need your consent to do their work.” (US) While it may seem like there is no harm in citizens having your genetic information without your name, researchers still gather other information (age, gender, ethnicity, etc.) to profile your genes. If a facility that has your genetic information receives federal funding, they are obligated to share the information with numerous genetic data banking organizations that distribute the information to even more researchers (US).  Having all this information floating around in the virtual world and not protected by HIPPA regulations like other personal medical information poses a threat to individual’s privacy. We are living in a technological world and it is becoming easier and easier for hackers to access all information and use it for nefarious purposes. With so much genetic information being collected, it makes it that much easier for genetic information to fall in to the wrong hands. 

The volume of genetic information not only creates a threat from hackers, it also presents an opportunity for people to take advantage of it. The amount of genetic information collected from individuals has grown due to private companies being able to compete in a consumer driven market. Thirty years ago, when scientists were beginning to better understand genetics, the United States government began to issue patents for researchers to own specific rights to human genes. In Tania Simoncellia’s Ted Talk, she explains how the ability to patent a gene was allowing a small amount of genetics companies to monopolize research rights. Being an assistant director of the ACLU, Tania was one of the leading figures in building a case against gene patents. In 2009, A federal court judge in the southern district of New York found that it was illegal for companies to own rights on a gene because it was a product of nature. While this was initially celebrated as a bioethics victory that would free up information to all, people did not realize there would be adverse effects to the ruling. Once there was no ownership for genetic research or gene synthesizing, private companies went to work at collecting as much genetic information that they could via private genetic tests. The companies acquired the information by advertising their tests as a surefire way to know your future medical ailments. Since private organizations aren’t as restricted as public organizations, they do most of the genetic testing. Private companies own a large quantity of genetic information and they aren’t sharing it without a price. It was stated in a Huffington Post Article that, “23andMe (a large, private genetic testing company) recently announced that the drug company Genetech offered to pay up to US$60 million to use its database to conduct Parkinson’s research.” (US). It is much cheaper for private companies to do mass genetic testing because they have less privacy loops to navigate through. The case that ACLU filed against genetic patents may have dismantled one monopoly but it inadvertently created an even larger one. Making gene use available to everyone made genetic information a commodity in a skewed market. Since private organizations have an advantage in collecting genetic information, they are able to monopolize the market over public organizations and sell the information to the highest bidder. The market structure is very flawed and not only poses a threat to patient privacy, but also impedes many well-intentioned research organizations from attaining the genetic information they need. The lack of regulation on genetic information is causing private companies to take advantage of the current system and monopolize the market. If we continue on the same path there will be grave consequences for scientist’s ability to make advancements and the safety of genetic information will be jeopardized. 

One of the more unsettling truths is that the rules of the medical field like patient-doctor confidentiality don’t apply to private genetic testing companies. With the market for consumer genetic testing growing, private companies are receiving exponentially larger amounts of genetic information from paying customers who unknowingly sign away the rights to their information. Once the private company’s data bank the information, they are legally allowed to sell the anonymous information to whomever they want. Additionally, “The company can also sell deidentified individual-level data if you sign the research consent document - which 80 percent of consumers do.” (US). It is alarming to know that there are so many misinformed consumers who are throwing their most personal information in to the ether, all to receive information that could be very troubling but offer no solution.

There are thousands of genetic mutations and scientists are discovering more and more about how the mutations affect the development of diseases but, there is a major discrepancy of knowledge that holds potentially horrible consequences. With a recent spike in the amount of private companies offering home genetic tests, there is an increasingly competitive market for which providers can give the most information to the consumer. Full genetic screening is becoming more and more popular because companies can charge more for it and consumers are enamored with the idea of knowing their future health condition. When a full genetic screen is done, administrators test for any known genetic mutations and give all that information to the recipient. This is where people run in to issues. People who receive these types of tests often end up discovering they have a high risk of developing a disease, but their physicians have no recommendations of how to help them. A real-life example of this type of catastrophe is illustrated in a New York times article, “Jennifer was 39 and perfectly healthy, but her grandmother had died young from breast cancer, so she decided to be tested for mutations in two genes known to increase risk for the disease. When a genetic counselor offered additional tests for 20 other genes linked to various cancers, Jennifer said yes. The more information, the better, she thought. The results, she said, were “surreal.” She did not have mutations in the breast cancer genes, but did have one linked to a high risk of stomach cancer. In people with a family history of the disease, that mutation is considered so risky that patients who are not even sick are often advised to have their stomachs removed. But no one knows what the finding might mean in someone like Jennifer, whose family has not had the disease. It was a troubling result that her doctors have no idea how to interpret.” (Grady). The practice of full genetic screening is a product of private companies trying to make more money without considering the risks. Without proper genetic counseling, this type of information can be extremely troubling and life altering for individuals. It is a clear example of how genetic testing has developed past its utility. There is no use in discovering you have a condition that scientists cannot cure. In a report written about the future risks of genetic testing by researchers with the human genome project, they clearly stated, “Health professionals, an interested public, and policy makers will need to be well informed to move forward with thoughtful and judicious decision making in this area…

We addressed the need for better professional training of health professionals and of human and medical geneticists. Many genetic tests will be ordered and interpreted by primary care health practitioners, and not only by geneticists or genetic counselors…The regulation of laboratories sufficiently expert to carry out genetic testing as well as quality control of testing takes on great importance” (Genetic). With the proper education to the public about the potential risks of knowing too much about your genetics and more regulation of how private genetic companies conduct business, serious issues like this could be eliminated.

The current state of genetic information is deeply troubling. When you examine the current legislation in place, it is clear that the federal laws in place are not geared towards protecting or educating individuals in the future. With more and more genetic information being collected every day, society needs to be proactive in who we allow to collect and use genetic information. If we continue to enact vague incomplete laws, disregard individual’s privacy, neglect genetic counseling to test recipients, and allow the private sector to dominate the genetic test market, there will be very serious consequences. If we do not update our legislation, genetic information could be used with greedy or malicious intent which would be detrimental to our society. There is no denying that the study of genetics will play an enormous roll in the future of medicine. With the right precautions, the use of genetic profiling holds great potential for curing diseases while still protecting the privacy of patients. Primary care providers and scientists should have access to genetic information but only if it is entirely consensual and not purchased from a monopolized industry. Additionally, people should be advised and counseled about the risks of receiving results of a private genetic test. It is difficult to see past and scrutinize a scientific practice that has done so much good for people but it is imperative to preserving the future of genetic research. 
