Personal genome sequencing is uncharted waters in our society. The benefits and implications of sequencing are likely to be connected, complex, and largely unknowable until years have passed and the consequences are examined across several generations. However, thinking through the issues surrounding personal genomics now, rather than later, may help to avoid potential pitfalls and ensure that the good outweighs the bad.
The benefits of sequencing may be mostly in the medical arena. In the long term, sequencing of many individuals could provide new information on the genetic basis of poorly understood diseases, with the potential to provide new therapies. However, there may also be immediate benefits based on our current understanding of genetics and health. Knowledge of elevated risks for known diseases could allow you to make proactive decisions about your health; visiting the doctor for more frequent check ups or screenings, choosing one type of prescription drug over another based on your metabolism, altering your diet or exercise plan, informing reproductive decisions, or making certain kinds of arrangements for your future medical care are all ways that you might use the information that you learn from your sequence. This individualized avenue of health care is often referred to as “personalized medicine.”
In addition to medical benefits, some believe that the advent of widespread sequencing could foster new connections among different people or groups. For example, people with shared genetic variants and mutations may wish to contact one another in order to discuss their common experiences, just as people living with debilitating diseases do currently (Facebook is host to many groups of people sharing information and seeking support for conditions like Huntington’s Disease, BRCA mutations, and macular degeneration, to name just a few). Click here to read about how one father’s blog played a pivotal role in connecting families whose children turned out to have the same rare (and at the time, undiagnosed) medical condition.
Unintended consequences: privacy
The possibility of benefits also comes with potential for harm, unintended consequences, and the altering of how we think about a number of cultural, personal, and biological issues.
Personal sequencing will likely impact our concept of personal privacy, as the technology may allow for the possible exposure our unique “code” that we leave behind on every surface we touch. In particular, even if databases storing our personal sequences are protected from the public eye, the DNA that one may discard on a used coffee cup could eventually be used to identify an individual’s physical characteristics, including race, height, facial structure, and one’s susceptibility to genetic diseases. This will likely have enormous implications for the criminal justice system, which generally seeks to increase the availability of DNA samples from the population.
Fear of genetic discrimination
In addition, there is a fear that information about your probable health care needs may affect your ability to find employment or insurance. The passage of the Genetic Information Nondiscrimination Act (GINA) in 2008, which forbids the use of genetic information in employment and the ability to obtain and set fees for health insurance, is a major milestone in the United States. The hope is that GINA will not only prevent genetic discrimination but also encourage greater participation in medical research. Click here to watch a video from GINA author, Rep. Louise Slaughter, and then take our online quiz!
Benefits, impacts, and complexities – Spotlight on PGD
Questions abound in the areas of privacy, autonomy, and whether or not government regulation is necessary in the field of personal genetics. Take, for example, the procedure known as preimplantation genetic diagnosis (PGD). Embryos, created via in vitro fertilization (IVF), can now be tested for a number of genetic traits. The results can help prospective parents choose which embryo(s) to implant in a woman’s uterus. Thousands of the children in the United States have already been born as a result of this process. PGD is most commonly used to assess chromosomal characteristics or the presence of a mutation that is linked to an often fatal childhood disease. However, in time, sequencing technology could be used on an embryo as it could be on an adult human, giving prospective parents an enormous amount of information. This information could be a comfort and a relief in some situations but a source of worry for them and their child in other situations.
Questions and conversations for the future
Clearly the scope of these issues is enormous, and one can argue that the potential for harm reaches beyond the ability of our societal structure to guarantee protection of individual rights. As such, it would be wise to step back and examine the big picture before we embark on our journey toward a genomic future: Who has the most to gain and the most to lose? Who bears the most risk? Where do we draw the line? And who exactly gets to draw that line, and with what authority? Genome sequencing has great potential to improve health, create new treatments and bring about cures for disease – so how do we make sure those possibilities can be realized and minimize the risk at the same time? Join the conversation!