The Benefits of Genetic Screening

[1]

35 years ago, the discovery of genetic screening helped diagnose and prevent mental retardation in newborns, proving its success. Due to its achievements, we have been able to apply this process to other genetic disorders. A study has discovered that genetic screening could diagnose children at rates of 15-50% who could potentially have a previously non-diagnosable disease (1). The study focuses on diseases where the environment plays a factor. The genetic sequencing of newborns could identify a disease that the child has, thus allowing the child to be treated. This results in a reduced mortality rate with respect to newborn diseases. Therefore, genetic sequencing is beneficial for newborns.

Genetic sequencing is defined as the analyzation of a segment of DNA in order to determine the nucleotide sequence within the segment (2). It helps doctors note distinct mutations in the DNA of newborns and young adults which can help decipher the specific diseases newborns may have. A way doctors analyze the DNA segment is through genetic screening. This is a test which allows doctors to discover any genetic mutations and differences that may prove to be pathological. For a newborn genetic screening test, the doctor pricks at the newborn’s heel in order to obtain a blood sample and sends it to a laboratory. After receiving the results, the doctor compares the segment of the DNA with other segments to check for any disorders. The next step of treatment will be taken if the result of the test concludes in a discovery of a disorder.

To begin with, genetic screening is beneficial not only to newborns, but also to young adults and adults. Several genes discovered are known to be associated with certain diseases. These new-found discoveries will help lead to an increasing number of genetic tests that can be added on to the previous tests for newborns. Implementing the genetic test in newborns will allow doctors to discover the genetic variants and mutations that can lead to certain diseases. Once this is figured out, the doctor can then proceed to the next step of treatment; helping the newborn overcome and treat the disease. As a result, the chances of detecting a disease in a newborn will increase dramatically.

The authors also point out that despite some diseases, like cancer, which cannot be detected at birth since environmental factors play a role, newer tests that detect genetic variants can reduce mortality in individuals with those diseases. Therefore, the implementation of genetic sequencing will be beneficial to newborns as well as adults (1). Since genetic screening can also be informative about diseases like cancer and other environmentally related diseases, it is crucial that doctors begin the screening process in newborns in order to simultaneously help young adults and adults.

Building upon the benefits genetic screening provides for all ages, genetic screening also increases life expectancy. Genetic screening and early detection in newborns can increase their likelihood of survival significantly. By detecting the disease in newborns early, specific treatment can have a larger and more beneficial impact on the newborn. Through the newer tests that detect genetic variants, any found mutations in young adults can be treated earlier. Genetic testing can also predict whom drug therapy will have the most positive and effective outcome on. Thus, the implementation of genetic screening is advantageous for diagnosing an array of disorders in newborns and adults.

Furthermore, an inevitable concern for parents and patients are the ethics and legality of genetic screening for newborns. Since undoubtedly, sequencing an infant can be doubtful for parents, investigators will work with doctors and parents simultaneously to help make informed decisions. This way the doctors will gain knowledgeable information while assuring the parents and patients of the benefits and security of genetic sequencing. A main controversy is the possibility of misreading the results. Without professional guidance, people can misinterpret the information and become apprehensive about their health. Another main controversy is the emotional and social risk associated with genetic tests. Inevitably, emotions for that person and within a family can drastically change once the results are viewed. Also, the lack of treatment for many disorders is a negative aspect of genetic testing; however, with the ethical and legality as a working progress, the application of this process can prove its successfulness in predicting future illnesses in newborns by the GSNSD program. Indeed, early detection will undoubtedly help immensely in newborns (2).

Despite the controversial concerns about genetic screening in newborns, previously stated, the benefits of the screening are high and are increasing as more people start to understand it. Specifically, parental consent is a large portion in getting the screening done for newborns. Through valid arguments on both sides, a compromised solution was developed: diseases that have solutions and immediate benefits will be tested upon birth, however, diseases that have no immediate benefit will need parental consent. Therefore, this article lays out the basics of what is concluded and asserts that although genetic screening is recommended, doctors still pay attention to the ethics (3).

Works Cited

(1).Yoon, Paula, and Bin Chen. Genetics in Medicine, "Public health impact of genetic tests at the end of the 20th century." Last modified September 06, 2001. Accessed February 3, 2014. http://www.nature.com/gim/journal/v3/n6/full/gim200178a.html.

(2). Collins, Francis. The JAMA Network, "Genetics Moves into the Medical Mainstream." Last modified November 14, 2001. Accessed February 3, 2014. http://jama.jamanetwork.com/article.aspx?articleid=1149670.

(3). Levy, Paul. OvidSP, "An Overview of Newborn Screening." Last modified September 2010. Accessed February 3, 2014. http://journals.lww.com/jrnldbp/Abstract/2010/09000/An_Overview_of_Newborn


Photo Credits

[1].  Photo By: Polygon Medical Animation