A slight mutation in the matched nucleotides can lead to chromosomal aberrations and unintentional genetic rearrangement. (Photo credit: Wikipedia)
With the completion of the Human Genome Project in 2003, the over 20,000 genes of the human genome were sequenced and made available to researchers for discovering the function of those genes. Thousands of genes involved in human diseases have been discovered to date. This new information has created a new field called genomics, the study of genes and their function. Genomics has had a significan impact on how diseases are understood, how they are treated, the discover of medications that affect certain genes involved in disease, and in early detection of diseases. For example, researchers discovered that when either the BRCA-1 or BRCA-2 genes has a harmful mutation in the DNA sequence, that increases a woman’s risk for breast and ovarian cancer. Women may be tested for the gene mutation, providing them with information about their higher risk, even before they have any signs of cancer. That knowledge allows them to be tested for the disease more often and to make important life-style changes to prevent cancer.
Additionally, a recent study concluded that some breast cancer patients may be spared the devastating effects of chemotherapy following breast cancer surgery because of a genetic test that predicts likelyhood of metastasis (Medical News Today, .2012). In these cases, according to the article, the women’s chances of survival are not increased with chemotherapy; therefore, avoiding the damaging effects of chemotherapy, which would have been given as a precaution in the past.
The Human Genome Project and Genomics have created new fields in medical care, diagnosis, treatment, and disease prevention, among other fields. Learning how genes work and affect health have significantly changed the way patients are treated in health care these days. Doctors and nurses will need to keep up with this information to continue learning how to help their patients. New areas of medicine and research will likely continue to be created in health care as researchers discover more links between genes, disease, and drug effects. For example, the New England Journal of Medicine article, Genomics, Health Care, and Society states that one of the most promising areas of genomic medicine “is the ability to match an individual’s genetic profile to the likely effect of particular drugs” (Hudson, 2012, http://www.nejm.org/doi/full/10.1056/NEJMra1010517)
To read more about the Human Genome Project, here are two good links:
For more information on gene testing, see the Department of Energy’s (Office of the Sciences) web site about the Human Genome Project: http://www.ornl.gov/sci/techresources/Human_Genome/medicine/genetest.shtml
ECCO-the European CanCer Organisation. “Some Breast Cancer Patients Spared Chemotherapy By New Genomic Test.” Medical News Today. MediLexicon, Intl. 23 Mar. 2012. Web. Apr. 2012. http://www.medicalnewstoday.com/releases/243251.php