Medicine has changed dramatically since the first vaccine. And yet, it has stayed remarkable the same. Since the dawn of medicine, scared and sick patients have sought out doctors and nurses to give them hope and medicines to cure their diseases. In the last 20 – 30 years, the ability of doctors and nurses to help their patients has increased significantly. The development of genetic cloning, mapping, and sequencing has forever changed the landscape of medicine. These initial endeavors have led to some of the major benefits of genetic analysis: 1.) prenatal and infant genetic screening, 2.) gene therapy, 3.) genome sequencing, and 4.) epigenetics.
Prenatal and Infant Genetic Testing
It was not uncommon fifty or 100 years ago for babies to be born with what we now know to be genetic abnormalities. According to the Centers for Disease Control’s (CDC) Morbidity and Mortality Weekly Report (MMWR) (2008), 3% of those born in the United States suffer from birth defects. Unfortunately, in 20% of those cases, the infant dies (Matthews, MacDorman, Thoma, 2015). The mysteries that have been uncovered using genetics and genomics have been applied to the testing of this most vulnerable part of the population.
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Trisomy 13 (Patau syndrome), trisomy 18 (Edwards syndrome), and trisomy 21 (Down syndrome) are examples of horrendous genetic-based birth defects. In these cases, the infant has three copies of the chromosome rather than two (Stanford Children’s Health, 2016). However, thanks to advances made in genetics, prenatal and infant screenings can be done to assess for these conditions. An amniocentesis, where amniotic fluid is drawn from the pregnant woman, can be tested for these chromosomal abnormalities. Ultrasounds can also be used, however, this method is not infallible. After birth, infants can also be checked using a simple blood draw (Stanford Children’s Health, 2016). Other genetic-based problems such as brain or neural tube defects can be identified with a simple blood draw while the woman is pregnant (Dungan, 2016). Since the fetus’s DNA escapes into the mother’s bloodstream, a blood test on the mother can indicate if the fetus is genetically robust (cell-free fetal nucleic acid testing) (Dungan, 2016). Such a blood test can also screen for proteinaceous markers associated with genetic maladies such as neural tube defects (Dungan, 2016). The idea that a simple blood test could yield such monumental results would have been virtually inconceivable 100 years ago.
Gene Therapy
Finding a genetic defect is only half the battle. The other half is being able to change the diagnosis by altering the faulty DNA. There are several different procedures to affect such changes. One of the first ways to correct problematic genes was through gene therapy. This procedure introduces a gene into the patient that is correct and can produce a usable protein for the patient. One of the most popularized uses of this was for diabetic patients. According to Clinical Trials.gov, there are currently 1688 open studies dealing with gene therapy. Some of the diseases these trials contend with include sickle cell anemia, diabetes, cancer, hemophilia, HIV, and Parkinson’s disease. Gene therapy is currently only allowed for patients with incurable diseases (NIH, 2016). Because of this, the advances in genetics which produced this technique could save lives that previously could not be saved in any other way.
Genome Sequencing
In 2001, the sequencing project for the human genome was completed (Venter). It was hoped by those in the scientific community that once sequencing was complete, an array of new cures would follow along with a novel, deeper understanding of our own genetics and how our genes affect us (Venter, 2001). Unfortunately, this project did not quite yield all that everyone expected. However, because of this data, certain diseases caused by single gene mutations were found and now have the possibility of a cure (Venter, 2001). In fact, this opened the door to other such project including the Pediatric Cancer Genome Project (PCGP) (Lulla, Saratsis, Hashizume, 2016) and the Cancer Genome Atlas (TCGA). Both of these new projects endeavor to map the genome of various types of tumors as a way to find a cure.
The PCGP is using newly discovered somatic mutations to generate new treatments, including those that affect the epigenetic regulators of difficult cancers such as brain tumors (Lulla, 2016). The TCGA is another way new genetic information is being used. Started in 2005, it set out to sequence the tumors associated with lung, brain, and ovarian cancer (Hampton, 2006). By 2013, TCGA was able to generate data comparing 12 different types of tumors and delineating their similarities and differences (Weinstein, 2013). For example, it is now understood that not all breast cancers are the same; their genetic basis can be different. Because of this, different treatments can be used to suit the particular genetic nature of the cancer. For instance, a BRAF mutation-based cancer can be treated differently than a HER2-based cancer (Weinstein, 2013). Thanks to projects such as this, it is now accepted by the medical establishment that cancers are genetic diseases, and thus, can have increasingly novel gene-based therapies (Weinstein, 2013).
Epigenetics
Epigenetics has exploded on the scientific scene as a new and growing area as well. Epigenetics, essentially, deals with how genes are expressed, rather than what the genes specifically are. Epigenetics was first implemented in cancer research and the discoveries there regarding methylation and acetylation spurred its spread into other research areas (Conway, 2016). In fact, epigenetics has helped lead the way for personalized medicine (Yan, 2016). By noting the differences in the tumor’s DNA methylation, markers have been found which are sensitive to various drugs (Yan, 2016). This type of specific treatment for individual tumors is only going to become more refined and targeted in the future, all due to the advances in genetics and genomics.
How Can Nurses Individually and Collectively Influence the Issue?
Nurses are at the front lines of the medical profession. They are the first ones a patient sees, and they typically provide the most consistent and frequent interaction with the patient. Nurses also help calm nervous and scared patients and can help explain frightening procedures and sometimes, options a patient may have, or refer them back to the doctor, when necessary. As such a primary point of contact for patients, the influence nurses can have with regard to how a patient perceives genetics and genetic therapies, is great. The way a nurse feels about, and how much they know about, genetic advances and treatments can color the way a patient views such topics.
Not only can nurses affect how patients understand genetic issues and treatments, but they can affect the issue on a larger scale as well. Since nurses are in the weeds, so to speak, they will be one of the first ones to know when something isn’t right. If a procedure isn’t working, if a patient is having a poor reaction, if another nurse or doctor is inappropriately using or explaining a treatment. They will be one of the first ones who can let a doctor or hospital administration know that there is a problem. This would be infinitely better than waiting for a catastrophe to occur with a patient before saying something. To be the watchdog of such new procedures and techniques, however, nurses must ensure they are well-versed in current advances.
Outside of the hospital, nurses can also affect policy for new and controversial treatments and procedures on a political level. Collectively, nurses can speak out regarding what is going right, or wrong when trying something new or perhaps ethically dubious. Nurses make up a large portion of health professionals, and can make a difference, if they make their informed opinions known.
- Conway, S. W. (2016, January 29). Epigenetics: Novel Therapeutics Targeting Epigenetics. J Med Chem, 59(4), 1247-8.
- Dungan, J. (2016). Merck Manual. Retrieved April 20, 2016, from Prenatal Diagnostic Testing: https://www.merckmanuals.com/home/women’s-health-issues/detection-of-genetic-disorders/prenatal-diagnostic-testing
- Hampton, T. (2006, October 25). Cancer Genome Atlas. JAMA, 296(16), 1958.
- Lulla, R. S. (2016, March 18). Mutations in Chromatin Machinery and Pediatric High-Grade Glioma. Science Advances, 2(3).
- Lucile Packard Children’s Hospital, Stanford. (2016). Stanford Children’s Health. Retrieved April 20, 2016, from Stanford Children’s Health Web site: http://www.stanfordchildrens.org/en/topic/default?id=trisomy-18-and-13-90-P02419
