Over the last two decade, the field of genomics has advanced tremendously due to the improvement of DNA sequencing technology. The first DNA sequence took fifteen years and three billion dollars to produce, while nowadays a sequence can be obtained in four days for less than $1000. Traditionally, medical research has aimed to provide “one size fits all” drugs that are able to treat any person. However, complex diseases such as cancer have shown that such methods can have significant downsides, and that personalized treatments are needed. Decreasing sequencing costs brings the ideal vision of personalized medicine closer than ever before, as doctors will be able to use the DNA sequences of their patients to provide more specific treatments. However, as these technologies become more widely used in research and medicine, many ethical questions will arise about their use. The following is a discussion of two of these questions: should research participants receive their sequencing results? And should their relatives be involved?
Should research participants receive sequencing results?
When the three billion base-pair human DNA is sequenced, the results are produced in the form of large text files that are incomprehensible without analysis. Within these results, sensitive information about the subject’s normal genomic variation as well as disease risk factors are contained. For sequencing results to be useful, proper analysis in a laboratory setting would be required; however, this process is expensive and subject to misinterpretation even with scientific training. In the case of a participant with a deterministic mutation, a mutation that will definitely cause a disease, such as Huntington’s disease, the answer may be clear: to disclose the results if requested. However, DNA mutations are rarely deterministic. More often than not, multiple gene mutations along with certain environmental factors are required to cause a certain disease. This view is not presented by the media whenever genomic discoveries are reported, where it is often stated that scientists have discovered a gene “for” intelligence, obesity, diabetes…etc. Thus, presenting these results to research participants may not be appropriate, given the lack of certainty for the majority of the data. Such results could also have serious long lasting effects on a participant’s or patient’s quality of life. If a patient’s DNA has risk factors that are associated with cancer, his or her doctor may recommend MRI, CT, and other types of scans every six months. To the patient, this may seem like a definite truth: that he or she will definitely get cancer at some point in the future, and the only possible choice is more screening to prevent it. However, a person’s DNA can contain multiple cancer risk factors without causing any sort of tumors. For deterministic mutations, a person’s quality of life can be effected simply by knowledge of their existence. If a person had the mutation for Huntington’s disease, decisions about every aspect of his or her life may be dramatically influenced based on that knowledge. When his genome was sequenced, James Watson, who is widely considered the father of molecular biology and one of the discoverers of the DNA structure, chose not to learn whether he is at risk of Alzheimer’s or other late onset neurodegenerative disorders.
As the costs of sequencing decreases, its commercial use will also spread. One of the earliest companies to provide sequencing to the public was 23andMe. Just by providing saliva samples, consumers were able to obtain their DNA sequence, annotated with explanations only at functionally known areas of the genome. This service was stopped by the FDA in 2013, claiming that 23andMe’s annotation was not validated properly. This is an extension of the same problem discussed above, even with analysis from 23andMe, their results were not appropriately conveyed to the consumers. This is drastically different from medical tests, where errors of interpretations are much rarer. Regardless of the accuracy of their results, 23andMe required consumers to sign a consent form that allows for the anonymous disclosure of their DNA sequences to research databases.
Should relatives of participants be involved?
Due to the inherited nature of DNA, relatives of research participants can be effected by sequencing. Should they then be involved in the research process? Currently, relatives are not considered to be research subjects of studies and their consent is not requested. However, while relatives cannot be personally identified by the participant’s DNA, many of their physical characteristics and inherited diseases can be predicted. It may be the case that the researchers who sequence that DNA only use the results for their intended purposes. However, sequences can be used in the future to measure characteristics which neither the participant nor relatives agreed to, such as intelligence or personality traits. Currently any DNA sequence that is used for research purposes is anonymously incorporated in online databases. But as the field of genetics advances, predicting relatives’ DNA sequence and identifying them through the participant’s DNA may become possible, stripping the anonymity from those sequences. This can be exploited by employers as well as insurance companies, which can raise ethical and legal issues for the relatives as well as the participant. For example: insurance companies may force those with deterministic mutations to pay excessively high premiums, knowing that they will be inflicted with a disease at some point in their lives.
DNA sequencing is the most revolutionary medical tool since the invention of antibiotics, and its effects will be much more far reaching. Questions about privacy, informed consent, and sharing of DNA sequencing results will continue to arise, as these aspects directly affect participants or patients and indirectly effect their relatives. Moreover, this technology will heavily influence preventative medical care by promoting more testing for those with disease risk factors and decreasing testing for those without. Current sequencing techniques produce massive amounts of data, of which only a fraction is understood. Regardless of the context, clinical or research, the solutions to the ethical problems that arise will be of great importance in setting standards for the future use of this technology.