Individualized Medicine: The Ethical Debate
Personalized medicine is a rapidly-growing field, but is not without its dangers. The following section will summarize some of the ethical concerns surrounding personalized medicine, including:
- Direct-to-consumer genetic testing and its place in the healthcare system
- The perception and reality of ‘designer babies’
- Pharmacogenomic regulation
From mass data storage to designer babies, there will always be concerns surrounding the ethics of individualized medicine. Since the human genome was sequenced in 2003, fears have emerged regarding whether future research will lead to further discrimination, drug companies taking advantages of vulnerable populations, and the necessary consent to partake in research. As prices for a full genomic sequence decrease, individualized medicine may no longer be the healthcare of the rich and well-financed; it will likely become available for the general population to receive and benefit from.
Personalized medicine and pharmacogenomics have the potential to reclassify disease, avoid drug reactions, and give patients a sense of competency when discussing their healthcare, but these benefits are not without question or cost.
Privacy, personal information, and direct-to-consumer testing
A genome may just be a series of letters, but the space required to store it is massive. If in the next decade the newborn child protocol moves from a smaller-scale genetic test to a full screening, that data would also have to move around to wherever that child gets care. A vital part of moving this data is keeping it secure: genetic testing isn’t just personal; it includes data from a person’s entire family. It’s paramount to work with patients and families to understand the ramifications of receiving this testing.
Companies like 23andMe offer direct-to-consumer testing, but this data cannot or will not be used by physicians who would prefer in-house testing over a private company with disparate regulations.
"To the best of my understanding, any clinician would order their own genetic tests and would not use any direct-to-consumer information," said Dr. Kelsey Metzger, assistant professor of biology at the University of Minnesota-Rochester. "You can get [this information], but how useful is that for people? I would say for the most part it’s not actually that useful, it’s more gimmicky or for fun. If you want to know more about your health or predispositions it’s not the route to go.”
Although there might not be a problem in ordering these tests if one wants to know more about their health, there’s always the potential for false positives and genetic markers to get flagged for an unknown condition that could severely affect someone down the road. Although knowing a genetic predisposition might give someone comfort in their daily life, Dr. Metzger suggested it could lead to over-treatment or just general stress. Genetic markers and predictions are no true test if one will present the condition or not, but that these tests are not going away.
Everyone is different at a genetic level, and as this diversity becomes more and more apparent the protections that need to be taken to prevent people from taking advantage of this diversity will increase. The Genetic Information Nondiscrimination Act of 2008 sought to mitigate these problems from the start as lawmakers perceived some of the potential problems that consumer-grade genetic sequencing might cause. It would be incredibly problematic if insurance providers refused coverage or charged higher premiums for certain sequences in someone’s genetic code, which as previously mentioned are only potentiates for developing a condition, not an absolute confirmation. Workplaces and labor organizations are also banned from discriminating based on genetic markers.
How far is too far? The designer baby question
Genetic screening is no longer for those with specific conditions to treat, and people are getting screened to improve their overall health. Although scientists like Dr. Metzger suggest that the benefits aren’t really there, nutritionists and personal trainers could learn to use the data to make a healthy person even healthier with personalized diet and exercise plans based on genomic markers. With every high-profile scientific advancement, there will be a discussion regarding the limits of the research and future applications.
The words “designer baby” get thrown around a lot to criticize the advances of genomic medicine as a hypothetical absurdity, but a world that allows parents to select their children’s attributes is coming ever-closer. Although trying to make a child smarter or more athletic seems far-off, genetic medicine could alter a genome to prevent severe diseases from emerging later in life. If we have the ability to screen for a disease like cystic fibrosis or Tay Sachs, we also have the ability to screen for other things. We might choose eye color and hair color, and maybe even height.
Dr. Aaron Kostko, a bioethicist teaching at University of Minnesota Rochester, elaborated on this: “We think of that overbearing parent who manipulates the environment too much. And we don’t think that its necessarily good for the child and might be infringing on the child’s autonomy. You run up to that same kind of concern when you’re doing it through genetic manipulation as well. In general, manipulating environments and genes to bring about desirable traits is a worthwhile goal, but you might be sacrificing too much to the point where you are sacrificing the autonomy of the child.”
Whether or not the medical industry chooses to permit further genetic modification and prenatal manipulation, it will remain a hotly-debated topic.
Pharmacogenomics and the pharmaceutical industry
Although individualized medicine is a broad topic, much of the research and public banter surrounding the field is about one specific subset: pharmacogenomics. Dr. Wang, a researcher professor at Mayo Clinic, explained the basic ideas behind this field:
“We want to understand why and how genetic variation might result in different functions of those genes in these critical pathways, either pathways that determine the concentration of the drug in your body or determine how a drug might execute its functional action in your body, and how these together might determine the response to a drug.”
As Kelsey Metzger stated, there are so many genetic variants that it would be impossible to fit a drug to every single expression of a disease, but pharmacogenomics can help identify common patterns and sequences to improve drugs for subsets of the population that might not respond to current prescriptions.
Dr. Caer Vitek, education operations manager for the Mayo Clinic Center for Individualized Medicine, used antidepressants as an example: “only 40 percent of people respond to the antidepressant they’ve been given. So, that means that people are taking medications for a long time, they’re not responding, they’re not feeling better… its sort of a trial and error thing. If we can help people feel better, sooner, wouldn’t that be awesome?”
Kostko highlighted an interesting potential buried in this statistic:
“We might learn how bad our former diagnostic classifications are. Once we split something like schizophrenia into different subtypes (based on drug response) it makes sense why some people didn’t respond to current drugs. “
This disease reclassification or “gerrymandering” as Kostko describes it, stems from psychiatric drug response rates themselves, instead of symptoms. If two people had completely different responses to a drug despite having the same condition, they might not have had the same thing after all. Treatments could become more efficient without the agonizing waiting period to find a drug that works.
Sub-classifying diseases based on drug response or treatment, like every other topic discussed in this section, is not without risk or abuse. The Orphan Drug Act provides special up- and downstream benefits for drug companies producing treatments for a disease population under 200,000 people. This may result in arbitrary classifications on behalf of drug companies, resulting in ‘specified’ drugs that may still work on the larger disease groups, that would have priority through the FDA and seven years of market monopoly.
Despite the potential risks and abuse of the orphan drug system, the potential for disease reclassification that could help alleviate the burden of trial and error in psychiatry and other fields cannot be ignored.
Ariel Skow is a senior at the University of Minnesota Rochester. After graduation, she wants to pursue an advanced degree in health communications.
Cover photo courtesy Mayo Clinic