Hope For the Future:
Amid Concerns Over Security, Biobanks Are Valuable Resources In the Search For Cures
With the advancement of research on the human genome in recent years, it isn’t surprising that people would like to use the newfound gene sequence to help others by finding out which parts of it cause disease when mutated. This has led to the creation of biobanks, or databases of DNA, tissue, and health information by both governments and private companies. Among the largest biobanks is Iceland’s biobank, run by deCODE Genetics. All citizens are included in this bank unless they file a special opt-out request form, and while this originally sparked concerns (mainly from outside of the country), now 95% of the population from 1703 AD to the present is represented (Lewis 13). Other biobanks include CARTaGENE in Canada, The Estonian Genome Foundation, GenomeEUtwin in Europe (this biobank documents sets of twins), and the UK Biobank (Lewis 13).
Biobanks are unique in that they hold both medical records and tissue and DNA samples, creating a mix that could lead researchers to find genetic causes for disease. They could also link it to environmental factors that were identified in an initial questionnaire, or discover that it is caused by both genetic and environmental factors, and then have the ability to identify which factors these are. There is also a potential for disease-specific biobanks, which would hold samples of people affected by a certain disease like AIDS or breast cancer, and could accelerate the discovery of both causes and cures. There is, however, a potential for abuse as well. Biobanks are not created to be government databases in which to search for DNA that matches what was found at a crime scene. The Swedish government, who created a biobank in 1975, used a loophole to gain access to the un-anonymous sample of a 25 year old Swedish Serb, whose DNA matched that on the knife used to kill Swedish foreign minister Anna Lindh. This is an example of why there is growing criticism of the privacy policies of biobanks, and more people are questioning their legitimacy. (“Medicine’s New” 28-30).
Biobanks can be effective in determining environmental factors that play a role in disease, but only if they have 5,000 or more cases of the disease to study for each effect that they want to test. Ideally, they would have 10,000 to narrow down the chance of error (Smith 1492). Genetic causes would be found by comparing the DNA sequences of each participant for similarities, and looking into those similarities. However, large numbers can cover up smaller factors or less common contributors to disease, so biobanks can not be effective in finding all possible variations that could lead to a disease. Smaller cross-sectional studies would have to be used to determine rare variants because only a few cases would show these variants in a comparison; not nearly enough to be considered similar to the thousands of other cases that did not vary in the same way. (Foster 119-120).
After pinpointing the most common genetic factors in disease, biobank researchers would take that particular gene and find out which protein it codes for. They would then find out what the biological function of the protein is and how it interacts with other proteins to cause the phenotype that is seen with a particular disease. Upon discovering the protein and the disease pathway, researchers have both a key protein to target with drugs, or they can follow the proteins along the disease’s pathway if a way to target the main protein cannot be found. So far, deCODE Genetics (the company that is responsible for Iceland’s biobank) has found 27 loci (particular places on a strand of DNA) that contribute to diseases- both physical and psychological- and one locus for longevity. They have isolated 12 of the genes so that they can determine which protein they code for, and eventually make a drug to target. Of these 12, seven have drugs that have been discovered and developed to help fight the disease. These seven are peripheral arterial disease, myocardial infarction, stroke, asthma, schizophrenia, non-insulin-dependent diabetes, and obesity; there are more that are certain to follow. (“deCODE’s Population”).
Despite their positive consequences, biobanks are encountering opposition because a person’s DNA contains their future and their past. Due to such revealing things, people are calling for stricter privacy practices in the use and storage of this information. Paternity and family ties as well as future health problems are certain in a person’s DNA, and if the information found from it was leaked, it could lead to a bigger problem than if a medical record from a doctor’s visit was leaked. To quell opposition, biobanks commonly use practices such as informed consent on what information is taken and how it is used, the right to keep their information confidential or anonymous, and the right to withdraw their information. (Salter 715-716, 721). Patients will not be told if there are any abnormal findings because biobank workers are not trained to give counseling about information and telling participants that there is something wrong with them without telling them what to do could cause them to panic. If the participant has unusually high or low blood pressure or a decreased lung function, they will only tell him or her to go to their general practitioner about it. (Collins).
Biobanks are still viewed as a valuable resource, despite the security concerns they bring up, and they will continue to be used for decades, which is how long they were designed to follow populations. New loci and genes are being found and isolated all the time, and they are contributing to the development of drugs that could seriously help society for the better, and particularly with biobanks working on things like AIDS and breast cancer. There is still a potential for government abuse of biobanks, but there are people working to persuade the government to change laws to step up security of biobanks, due in part because of the highly sensitive material that DNA records can disclose- a person’s past and future. Large numbers of samples are needed in order to determine environmental contributions to disease- at least 5,000, but preferably 10,000 to lower the risk of error. Biobank researchers look for similarities in a population’s genes to determine specific places on a strand of DNA that a problem can arise; this place is called a locus. They then isolate the gene that the locus is on, and find out which protein it codes for. After studying the biological effects of that protein and how it leads a disease to progress, scientists can work to find a drug that will target that particular protein, and if that fails, to target proteins along a disease’s pathway. So far, 28 loci have been identified, 27 of which are for diseases, and the other for longevity. Twelve have had the gene responsible isolated, and seven have had drugs for treatment discovered and developed or have them in development. The large amount of people in each biobank can cause researchers to overlook less common causes of a disease, while only isolating the common ones, which requires cross-sectional studies to be performed in order to help alleviate this problem. While biobank workers will not tell participants if there is something wrong with them when they are screened for inclusion, the information that they get from the participants’ DNA and medical records will be certain to help future generations live with fewer diseases that cripple or kill.
