Publication Date: January 1, 2015
The Human Genome Project, completed in April of 2003, forever altered the future of medicine and human health applications. The project mapped the sequence of base pairs in a human genome and brought technology and disease treatment to a new level using the A-C-T-G code of life. With a greater understanding of the genetic factors that play into one’s health and development, scientists have developed biotechnology that murkily predicts the future for medical specialists and ordinary individuals alike; however, the power that comes with these predictions and knowledge must be used wisely in this new age of human health and disease treatment.
Before researchers understood the function of BRCA1/2 genes, physical examinations and less-than-reliable mammograms were the only ways to detect breast cancer.1 Before scientists knew of the ApoE gene, Alzheimer’s was not detected until an individual already began to suffer memory loss.2 Now, with increased knowledge of the roles genes play in health conditions, one can assess one’s own risk factors and begin prevention far in advance, paving the way to reducing the prevalence of common diseases from which many suffer. Human genomic information will allow specialists to diagnose patients effectively and personalize their medical treatments, increasing efficiency and effectiveness in treating the many patients who seek medical care every day.
Scientific and biotechnological advancements have also kept pace with the growing benefits brought about by whole-genome sequencing. With the improvement of rapid genome sequencing, companies such as 23andMe have brought genetic innovations to the general populace, searching the genes of hundreds of thousands of people for certain targeted SNPs that increase or decrease risk for certain diseases and show carrier status. Non-invasive whole genome sequencing for fetuses, a way to use maternal plasma to explore the genetic information of one still in the womb, has recently been developed.3
With the new knowledge the Human Genome Project introduced comes great responsibility, ushering in new and complex issues that scientists and society have to deal with. Despite the growth in genetic knowledge, the capacity and conclusiveness of genetics is easily overstated; beyond the impact of lifestyle and other environmental factors, the expression of genes coding for certain traits and characteristics still varies from person to person. A recent study found that one suffering from a genetically linked disease could have the same disease-causing variants in his genome as another healthy, fit individual.4 The explanation to such occurrences lies in the “junk” DNA—the non-coding regions that, until recently, have not been much studied. In these regions, certain sequences are associated with protein coding and transcription factor binding, which are necessary for the expression of a gene and the development of a genetic disease.5
Until scientists further investigate non-coding DNA, allowing our current limited knowledge of genes to control decisions is dangerous. As scientists improve noninvasive sequencing of fetal genomes, more expectant parents will be eager to take a look at what they believe is the blueprint of their child’s life. Suppose a fetus is aborted after parents learn that the child carries a Tay-Sachs variation, but the individual would have actually been born healthy due to its regulatory sequences? The parents would have made a premature, irreversible choice from insufficient information. Suppose a fetus is aborted because parents are dissatisfied at its projected hair color, stature, weight? We would edge closer to eugenics, forcibly reducing variety in the human gene pool and practicing genetic engineering upon subsequent generations.
Additionally, with the growing amount of generated genomic information, new questions have arisen: What happens to this information? Who sees it? Who gets to use it? While easy and steadily improving access to individuals’ genomic information greatly aids in examining and solving problems in human health and medicine, it also poses new questions that must be addressed quickly before science and technology continue to progress. Otherwise, we may see a society that uses its understanding of the human genome not to improve the detection and eradication of diseases, but to take the future into its own hands and attempt to control that which it still does not fully understand.
Welcsh, Piri L, and King, Mary-Claire. “BRCA1 and BRCA2 and the genetics of breast and ovarian cancer.” Hum. Mol. Genet. 2001; 10 (7):705-713. doi: 10.1093/hmg/10.7.705
Corder EH, Saunders AM, Strittmatter WJ, Schmechel DE, Gaskell PC, Small GW, Roses AD, Haines JL, and Pericak-Vance MA. “Gene dose of apolipoprotein E type 4 allele and the risk of Alzheimer’s disease in late onset families.” Science. 1993 Aug 13; 261 (5123):921-923. doi :10.1126/science.8346443
Kitzman JO, Snyder MW, Ventura M, Lewis AP, Qiu R, Simmons LE, Gammill HS, Rubens CE, Santillan DA, Murray JC, Tabor HK, Bamshad MJ, Eichler EE, Shendure J. “Noninvasive whole-genome sequencing of a human fetus.” Sci Transl Med. 2012 Jun 6; 4 (137):137-76. doi: 10.1126/scitranslmed.3004323
Xue Y, Chen Y, Ayub Q, Huang N, Ball EV, Mort M, Phillips AD, Shaw K, Stenson PD, Cooper DN, Tyler-Smith C; 1000 Genomes Project Consortium. “Deleterious- and disease-allele prevalence in healthy individuals: insights from current predictions, mutation databases, and population-scale resequencing.” Am J Hum Genet. 2012 Dec 7; 91 (6):1022-32. doi: 10.1016/j.ajhg.2012.10.015
ENCODE Project Consortium, Dunham I, Kundaje A, Aldred SF, Collins PJ, Davis CA, Doyle F, Epstein CB, Frietze S, Harrow J, Kaul R, Khatun J, Lajoie BR, Landt SG, Lee BK, Pauli F, Rosenbloom KR, Sabo P, Safi A, Sanyal A, Shoresh N, Simon JM, Song L, Trinklein ND, Altshuler RC, Birney E, Brown JB, Cheng C, Djebali S, Dong X, et al. “An integrated encyclopedia of DNA elements in the human genome.” Nature. 2012 Sep 6; 489 (7414):57-74. doi: 10.1038/nature11247.
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