Genetics and Healthcare
AI is a major point of debate in the world at this time. It is supposed to be a tool for the betterment of humanity but has raised some moral and ethical questions, especially in healthcare. It can be valuable when solving genetic cases but can cause the loss of doctor-patient relationships and jobs. Either way, I believe that AI may be able to make genetic testing better.
AI, specifically AI-MARRVEL, is useful in evaluating genetic data to come to a diagnosis. I must admit that when I first heard this, I thought we finally did it: we finally made Vision from the Marvel Universe. I was disappointed, however, when I discovered that this was not the case. But it does have some extremely exciting capabilities. According to Speeding the Diagnosis of Rare Genetic Disorders with the Help of Artificial Intelligence by Dr. Monica M. Bertagnolli on NIH (.gov), “only about 30% of people with a rare genetic disorder get a definitive diagnosis, and on average, it takes 6 years from symptom onset to diagnosis.” This is because of the time-consuming process of evaluating and finding the gene that is responsible for the presumed health condition. But AI-MARRVEL could help with this. To see how well this new AI tool worked, scientists decided to put it to the test by giving it unsolved cases. Out of 871 cases, the AI correctly diagnosed 57%, with a 98% precision rate. This shows that AI-MARRVEL can be a helpful and lifesaving tool when tasked with solving rare diagnosable cases.
AI can harm patients and the healthcare workforce in many ways, including the loss of patient-doctor relationships and jobs. Dalmacito Cordero Jr, in his article The Downsides of Artificial Intelligence in Healthcare on the National Library of Medicine (.gov), states that “AI must help humans to at least minimize errors, if not eliminate them, and not complicate or cause more problems.” I agree with this statement because, while AI can be a tool, it can also cause many problems. A major issue with AI’s involvement in healthcare is the lack of an emotional bond with patients. This relationship is the cornerstone of successful care, both physically and mentally. If a patient trusts a doctor, they will be more willing to confide their issues in the doctor. AI can also lead to the loss of jobs for multiple individuals in the healthcare workforce. Some jobs, “such as medical coding and basic diagnostic tasks” (Reddy at HIMSS, 2024) may be taken over by artificial intelligence. This loss of jobs could worsen poverty throughout the United States, making it harder for these healthcare workers to financially sustain themselves.
AI may be able to give us more information from our genetic testing and make it more efficient. According to News-Medical, AI can quickly and accurately sift through DNA to make a diagnosis. This is important because it diminishes the risk of getting a wrong diagnosis and the wait time for getting that diagnosis back. AI needs only 20 hours to reach a conclusive diagnosis, while the fastest physical approach is 48 hours (Collins, 2019). I would like to see this improve as we continue developing AI. Maybe one day in the future, we will be able to receive a reading on our genetic information almost instantly.
To conclude, AI can harm humanity in more ways than one, but it can also help us significantly. It can process and diagnose rare genetic disorders and speed up readings, but it can also cause a loss of jobs. In the end, AI is a tool to be used, just like a hammer. It is only as bad or as good as the person holding it. This is why I think that AI is a new and exciting topic in science, but it should be treated with caution and ethical reasoning. AI has a grip on the future, but humans have control over it.
References:
1. Bertagnolli, Monica M. “Speeding the Diagnosis of Rare Genetic Disorders with the Help of Artificial Intelligence.” NIH Director’s Blog, 16 May 2024, directorsblog.nih.gov/2024/05/16/speeding-the-diagnosis-of-rare-genetic-disorders-with-the-help-of-artificial-intelligence/.
2. Cordero, Dalmacito. “The Downsides of Artificial Intelligence in Healthcare.” The Korean Journal of Pain, vol. 37, no. 1, 14 Dec. 2023, pp. 87–88, www.ncbi.nlm.nih.gov/pmc/articles/PMC10764219/, https://doi.org/10.3344/kjp.23312.
3. Rege, Manjeet, and Dan Yarmoluk. “Artificial Intelligence and Its Impact on Jobs.” St. Thomas Newsroom, 19 Nov. 2020, news.stthomas.edu/artificial-intelligence-and-its-impact-on-jobs/.
4. Infante, Deliana. “AI-Powered Genomic Analysis: Revolutionizing the Detection of Genetic Mutations.” News-Medical.net, 8 Nov. 2023, www.news-medical.net/health/AI-Powered-Genomic-Analysis-Revolutionizing-the-Detection-of-Genetic-Mutations.aspx.
5. “Whole-Genome Sequencing plus AI Yields Same-Day Genetic Diagnoses.” NIH Director’s Blog, 7 May 2019, directorsblog.nih.gov/2019/05/07/whole-genome-sequencing-and-ai-yields-same-day-genetic-diagnoses
