All things genetics? Yes, please! My current career goal is to become a genetic counselor, so talking about genetics, genetic testing, and the ethics surrounding it, is all right up my alley of interest. This is actually the topic that I chose to focus my term paper on as well. I guess you could say that this is something I am invested in.
Chapter 15 in Medical Ethics is all about the ethical issues in pre-symptomatic testing for genetic disease, and discusses two main themes: (1) is it wise to test in advance for genetic diseases, and (2) can at-risk people do anything to avoid genetic diseases (Pence 362)?
The chapter opens with the stories of Angelina Jolie and her testing positive for a BRCA mutation and Nancy Wexler and her research on Huntington's disease. Both stories offer interesting perspectives on genetic testing and semi-opposing views--is it more important to have pre-symptomatic testing done in order to prepare for what's coming and take potential preventative action or should we be advocating against testing and taking a stance against it? Is personal genetic information life-altering in positive or negative ways? And who gets to decide? The third case presented is that of Maria Lopez, a woman living in East Harlem who had Type 2 diabetes in 2006. In this case, the author brings up the question of responsibility and whether or not knowledge of a disease will change a person's actions and whether or not they can be expected to alter their routines to accommodate a new diagnosis/new information. The last case discusses testing for Alzheimer's disease and the risks associated with inheriting the ApoE4 gene. This case is difficult mainly because of a lack of knowledge of how to prevent Alzheimer's (Pence 369).
A large and dark chapter in genetics history is the eugenics movement. Not to say that it's completely over, there are still advocates of its beliefs that are around today. The classic eugenics movement hoped to improve hereditary characteristics through voluntary, selective breeding (Pence 365). In Charles Darwin's original work he talked about "survival of the fittest", and by this meant "best adapted" or an organism's fit to its environment. This was misinterpreted by social Darwinists who applied this concept to social ideology, and from there it became a white, elitist movement. It caught on and stuck so well because of widespread bigotry, and flourished in the US from 1905-1935 (Pence 365). Eugenics included the sterilization of people characterized as "mental defectives" in Nazi Germany, and the "retarded and criminally insane" in America. Several large-scale cases and legislative acts reflected some of the inhumane tragedies that were allowed during this time period and the few decades that followed (e.g. Buck v. Bell) (Pence 366).
Like the title of this post suggests, timing can be everything. And how do we know if we are ready to receive potentially life-altering information? Will we ever really be ready?
There are many ethical issues raised by genetic testing. The first one listed in this chapter is preventing disease. Regardless of prevention measures taken, some people will still develop the disease associated with the genetic mutation/disorder they have. So, is pre-testing worth it? Or will people simply develop a fatalistic attitude and give up on goals and future achievements? It is also interesting to consider testing as a self-interest or only when looking for good news. Knowing your personal genetic information could be highly beneficial and allow you to take preventative measures, but is the knowledge and possibility of earlier preventative measures worth the weight of the knowledge? And what happens when you get an unexpected result and/or are unable to handle such difficult news? What about your family? A genetic test isn't only for you, any results that you receive also have indications for your family, both immediate and extended. So, is it important to be tested for your family's sake; do you all get tested together? Or does nobody get tested? Can one parent test a child in order to find out if the other parent is affected? Should children be tested at all? Should people be allowed to have testing done in order to determine paternity or find "long-lost" siblings or other family members? And coming back to an earlier question that I touched on, what about personal responsibility for diseases and/or acquiring a "sick" identity after receiving a positive test result? At what point (if at all) do the positives outweigh the negatives?
It's important to note here that genetic testing really should only be offered and available to the public when good genetic counseling accompanies it. That is the main issue with direct to consumer (DTC) genetic testing, like 23andMe or other similar companies. If a positive result with major implications is found, the patient has nobody to talk to or work through the news with--someone who understands the science, the medical implications of the positive result, and has psychosocial training to help de-escalate the situation and provide proper counseling. Ordering a DTC test is a relatively popular thing to do, they're common as gifts or as something to do with family. The phrase that best fits this action though, is "be careful what you wish for". I guess this is my little plug for my (hopefully) future career--always talk to a genetic counselor when it comes to genetic testing. There is a reason there are professionals in the field, and it's not to direct or convince people to have testing done or to take certain measures, it's to help patients by providing non-directive counseling and assist them in understanding what's really going on.
A couple other ethical considerations brought up in this chapter involve the future of genetic research and genetics in general. For 11 years (2002-2013), Myriad Genetics had a patent on the BRCA gene and charged up to $3,000 for genetic testing. The U.S. Supreme Court overturned a decision by the Patent Office on this matter though, and genetic testing has exploded outward since then. Looking forward, someday geneticists and physicians hope to have some type of personalized medicine system in place where a patient's genetics will benefit them in all areas of health. Recent research has also allowed for mitochondrial donation therapy, where a mitochondrial donor is able to replace the mitochondrial genes (37 total) that can cause devastating heritable diseases. This also raises the question of genetic engineering and "designer babies" alongside the potentially helpful gene therapy and embryo repair. Where are the lines drawn? Will new lines need to be drawn as research moves forward and more is discovered and/or made possible through new technology? How will we know what questions to ask and where to regulate experimentation and where to encourage it?
Genetics is a complicated issue, albeit one I'm very interested in and passionate about. As with many other ethical issues, it raises a multitude of questions I don't have complete answers for. I am hopeful that my future training and experiences will help to decode some of these, but for now I'll remain fascinated and dedicated to learning as much as I can about the building blocks of life as we know it.
Textbook reference:
Pence, Gregory. Medical Ethics: Accounts of Ground-Breaking Cases. 9th ed., McGraw Hill, 2021.
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