I have never really considered pursuing genetic testing before. It sounds interesting, but I personally do not like the idea of sending my DNA to a third-party source for scanning. I realize that that makes me sound like a conspiracy theorist; however, I would not be against changing my view upon further research of the topic.
Large portions of our DNA are the same from person to person; however, there are small variations that exist as a single nucleotide swap at a particular locus. These minute changes are the keys to the genetic code and what make us different from one another. Personal genetic services like 23andMe work by analyzing certain variants in the genome. They determine which version of the genetic variant you have at each position; this process is called genotyping. The human genome consists of nearly 30 million potential variants, so it would be inefficient for a geneticist to sit and examine every single position. Instead they rely on genotyping, which allows them to form groups of variants based on their proximity to one another on the chromosome. 23andMe targets their systems to scan for particular variations that are representative of common groups of variants. Consumer genetic companies run their tests after the purchaser submits a sample. 23andMe requests that participants send in salvia which they then use to extract DNA from the cheek cells contained within. The lab then produces millions of copies the DNA through amplification using a process called a Polymerase Chain Reaction (PCR). PCR tests can be targeted so that researchers eventually have enough DNA of a specific region to genotype. Once the amplified DNA is ready to be analyzed, the lab technicians will “cut” it down to manageable sizes and apply it to a microarray, or DNA chip. The chip is covered in probes that house a bit of DNA that matches the range of genetic variants that the lab tests for. The probes are labeled with fluorescents so that it is obvious which variant is responding to it.
I think the science behind genotyping and genetic research is fascinating and thoroughly sound, but I do not like how expensive and thus inaccessible some of these consumer companies make it. They hype up how important it is for one to know their family history for disease prevention, yet more often it is marketed as a fun activity. While some families have the resources and truly want to learn more about their genes, others feel like they need to pay and participate because services like 23andMe tell them they can provide “genetic insights into [their] ancestry, traits, and health” so they can “make more informed decisions” about their future. I feel that this kind of advertising sends mixed messages to individuals when they are trying to decide if they want to participate. The websites brag about all of these benefits to testing and how empowering it is to know your genome and history, but they subtly post the disclaimer that nothing is firm, and risks are unavoidable. These tests can’t really tell you the whole truth, and what they do tell you might not even be of use.
If I were to participate in one of these programs and I found out that I had a genetic predisposition for premature death, or some other equally devasting news, I don’t think I would change much about my life. First, I would consult a physician, but I would consider doing that no matter what my results were because I think services like these should be used more as a supplement to regular medical care rather than a personal predictor or end-all approach. Which sounds like common sense, however in this modern day and age there are individuals who would rather trust a computer’s analysis and predictions regarding their health than a licensed medical professional.
Ultimately, I think the individual should be able to be in control of their genetic information and who their share it with. If they decide to send their DNA to a company for analysis, then that company should be the only ones to view the information. I do not think it should be shared with insurance providers because merely having the markers for an illness/condition does not necessarily mean that you are afflicted. I think that insurance companies could use this kind of information to manipulate consumer rates and cause havoc in the insurance marketplace. Highly personalized medicine is an interesting future step and I think it could be beneficial for us as a society. That being said, I think participation should be voluntary, but doctors could recommend testing to their patients and then review the analyses together for better formulated healthcare plans.
Kaur, J., Rahat, B., Thakur, S., & Kaur, J. (2017, January 6). Trends in Precision Medicine. Retrieved from https://www.sciencedirect.com/science/article/pii/B9780128094112000155
23andMe. (n.d.). Our Health Ancestry DNA Service. Retrieved from https://www.23andme.com/dna-health-ancestry/?pdp=true
Polymerase chain reaction (PCR) (article). (n.d.). Retrieved from https://www.khanacademy.org/science/biology/biotech-dna-technology/dna-sequencing-pcr-electrophoresis/a/polymerase-chain-reaction-pcr