So many headlines announce the latest trends and decree what is no longer in style. It is reassuring to know that someone will let me know that my favorite things, such as a beloved garment or the hairstyle that I finally mastered, are no longer stylish.
Even in science, we have headlines announcing the latest and greatest technology. Recently, Nature put out an article about what technologies to watch in 2018 (Powell, 2018). One particularly trendy technology was the use of mass spectrometry and cryo-electron microscopy to connect changes in genotype with the corresponding physical manifestations (a.k.a. phenotypes). The article asserted that using mass spectrometry to measure proteins (the smallest manifestations of our phenotypes) is the key to better understanding the problems caused by disease. Fortunately, we not need to rely solely on difficult mass spectrometry technology to measure the proteins circulating through us.
Case in point: An international team recently published results from using the SOMAscan platform to link genotype to phenotype (Sun et al., 2018). This unprecedented achievement easily allowed the researchers to investigate the links between genetic variation and protein output. Their work suggested that if a direct genetic control exists for deciding protein concentration, it is likely due to regulation of messenger RNA. However, the authors could not entirely rule out other biological processes that could contribute to the changes in protein levels. They also found that if a genetic variation coincided with many protein abundance changes, it could be indicative of a biological pathway that linked them all.
Overall, connecting genotypes to phenotypes is a wonderful way to begin to better understand our biological Rube Goldberg machines and may very well lead to medical breakthroughs that help some individuals live a better life. But given the mind-blowing complexity of the genetic code, how transferable will this approach be to improving the health of the masses? Those who want to link genotype to phenotype to disease may not have chosen the most direct or simplest route to the summit of Mt. Improved Diagnostics.
The simplest route might just be to focus on proteins and avoid the complexity introduced by genomics. Do we need to wait till some headline says that proteomics is super trendy before it becomes the “omic” of choice? I think not. It is reassuring to know that others are not waiting to be told either, and are embarking on the use of proteomics in bettering the understanding of disease and improving medical treatment or diagnosis.
Powell, K. (2018). Technology to watch in 2018. Nature, 553(7689), 531-534. doi:10.1038/d41586-018-01021-5
Sun, B. B., Maranville, J. C., Peters, J. E., Stacey, D., Staley, J. R., Blackshaw, J., . . . Butterworth, A. S. (2018). Genomic atlas of the human plasma proteome. Nature, 558(7708), 73-79. doi:10.1038/s41586-018-0175-2