Examining DNA, the chemical database that contains instructions for a patient’s body’s functioning is a component of genetic testing. Genes may have changed (mutated), which could result in sickness or illness, according to genetic testing (Macha & McDonough, 2011). There are limitations to genetic testing, despite the fact that it can offer crucial information for diagnosing, treating, and avoiding illness. For instance, a positive genetic test result does not always indicate that a healthy individual would eventually get a disease (McLean, 2020). On the other hand, a negative outcome in some circumstances does not ensure that a patient will not have a specific condition.
The emotional, social, or financial repercussions of the test results are a large portion of the hazards connected with genetic testing. Regarding their outcomes, people may feel irate, unhappy, nervous, or guilty (McLean, 2020). Because the findings of genetic testing can expose information about family members besides the test subject, there are times when this causes conflict within a family. Another issue is the potential for genetic discrimination in insurance or the workplace.
Although ethical concerns about genetic testing have been known for a while, they are now more urgent due to the field’s rapid advancements following the accomplishment of the Human Genome Project. The initiative used American scientists to complete a high-priority objective quickly, but it also raised several ethical issues. Congress included the requirement for the creation of publicly sponsored programs to address ethical, legal, and social challenges in the legislation enabling the federally funded Human Genome Project because it understood that ethical dilemmas would arise from the project’s technical triumphs.
Genetic testing done in my agency is genome sequencing. A comprehensive test that can identify almost every DNA variation in a genome is called genome sequencing, often known as whole genome sequencing (Macha & McDonough, 2011). The majority of diseases for which the genetic basis is currently understood can be diagnosed via sequencing. These include multiple endocrine neoplasia, familial hypercholesterolemia, hemophilia A, Lynch syndrome, Duchenne muscular dystrophy, and cystic fibrosis. The majority of diagnoses are singularly uncommon or ultrarare, making them less likely to be anticipated beforehand. Although this list is not exhaustive, patients may appear with uncommon combinations of traits or common conditions, including dementia, cancer, schizophrenia, cardiomyopathy, congenital heart disease, epilepsy, or autism spectrum disorder.
Sequencing is a safe process, but there could be unfavorable effects depending on how the data are used and presented. First, genome sequencing may be perceived as a cure for all diagnostic problems. For the purpose of interpreting the findings, accurate clinical data and family history are still crucial. A negative test may not necessarily disprove a genetic component or invalidate a clear-cut clinical diagnosis, while a positive result may not fully explain all of the patient’s symptoms (Logsdon et al., 2020). Second, as more data become available, the classification of a genetic variant may alter over time. There is still a chance that misinterpretation may occur for some ethnic groups since they are underrepresented in the extensive reference databases of genetic variation used to assist interpretation (Logsdon et al., 2020). Third, the results of genetic tests may provide surprising information about a person, their family, or their connections (Logsdon et al., 2020). These factors emphasize the value of thorough pre-and post-test counseling as well as the requirement for qualified genetics practitioners.
It is projected that among children and adults with suspected genetic disorders and high genetic heterogeneity, genome sequencing will become first-tier research. This will end the customary practice of sequentially ordering several genetic testing and shorten numerous diagnostic odysseys. Pharmacogenetic profiles, reproductive carrier status data, and genetic risk profiles for illnesses with later onset may also be included in the results given to patients (Logsdon et al., 2020). However, it is still unclear how genome sequencing can be used to avoid illness in people who appear to be in good health.
References
Logsdon, G. A., Vollger, M. R., & Eichler, E. E. (2020). Long-read human genome sequencing and its applications. Nature Reviews Genetics, 21(10), 597-614. Web.
Macha, K., & McDonough, J. (Eds.). (2011). Epidemiology for advanced nursing practice. Jones & Bartlett Publishers.
McLean, S. A. (2020). The genetic testing of children: some legal and ethical concerns. In A. Clarke (Ed.) The Genetic Testing of Children (pp. 17-26). Garland Science.