Genetic testing methods and applications

Genetic testing is a term used to refer to some type of medical test carried out to identify changes in genes, chromosomes or proteins. It is also known as DNA testing as it helps to detect changes in chromosome structure or DNA sequence. Over the past few decades, this biotechnology has become more popular to an extent that various genetic tests have emerged and expanded. Despite its popularity, genetic testing is associated with some risks and limitations including physical risks. Consequently, numerous arguments have been raised to support and disapprove the use of this biotechnology. This paper examines reasons for and against the use of this technology and provides a position statement.
Background of Genetic Testing
Genetic tests have become popular as they help to identify abnormalities linked to an inherited disorder. These tests are carried out in different ways though they require easily obtained blood specimens and entail distinctive considerations. Genetic tests help to predict an individual’s vulnerability to certain diseases and are used for the establishment of suitable preventive measures or for preventive medicine (Glick, 2016). Despite their role in preventive medicine, genetic testing has been characterized by issues of reliability and validity. These issues have raised controversies, especially with the advent of commercially available, direct-to-consumer genetic tests. The increased availability of these tests to patients and people in the community has raised questions that have generated arguments in favor and against it.
Summary of Reasons for Use of Genetic Testing
Genetic testing is beneficial because of the role it plays in preventive medicine as it helps to identify people’s vulnerability to certain health conditions. Through these tests, researchers can identify certain genetic variants for a specific disease or population (Zimmern & Kroese, 2007). The results of such tests can then be utilized to develop appropriate preventive measures that promote the health and wellbeing of the individual or population. Additionally, genetic testing is a beneficial technology as it enhances diagnostic certainty in clinical medicine. As a by-product of improvements in sequencing technology, the results of genetic tests generate improve diagnostic certainty with significant therapeutic and prognostic implications (DeFilippis et al., 2018).
Summary of Reasons Against Use of Genetic Testing
While genetic testing has been characterized by scientific advances and changes in molecular biology, its use is associated with major risks and limitations. There is limited evidence on patient experiences with genetic testing and their response to subsequent test results (Bertolotti, 2015). These issues exist despite the uniqueness of genetic testing processes and interpretation of results. Moreover, some of the existing types of genetic tests lack scientific validity while some test results require full medical evaluation to be deemed meaningful. Advances in genetic tests has not been complemented by systems and procedures to assess the tests in a formal and appropriate way to determine their clinical validity and utility.
Position Statement
Despite issues surrounding its use, I believe that genetic testing is beneficial in clinical medicine. This technology still remains beneficial for preventive medicine and would help address some of the major health issues facing individuals and populations. Therefore, the use of this biotechnology in clinical medicine should increase while measures to enhance its clinical validity and utility established. Researchers and other professionals in genetics and medicine should work collaboratively to create systems and processes for improving the reliability and validity of genetic tests, especially direct-to-consumer genetic tests.
References
Bertolotti, M. (2015, October). Opportunities, Risks, and Limitations of Genetic Testing: Looking to the Future from Patients’ Point of View. Mayo Clinic Proceedings, 90(10), 1311-1313.
DeFilippis, E.M., Rehm, H., Cirino, A.L. & Lakdawala, N.K. (2018, September). The Lifespan of Genetic Testing. The American Journal of Medicine, 131(9), 991-992.
Glick, M. (2016, March). Genetic Testing. The Journal of the American Dental Association, 147(3), 157-159.
Zimmern, R.L. & Kroese, M. (2007, September). The Evaluation of Genetic Tests. Journal of Public Health, 29(3), 246-250.