What are genetic testing consequences?

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Genetic Testing

With the advancement in genetic technologies, the potential to transform how doctors diagnose a disease and treat it has increased significantly. Though the capability to repair faulty genes remains in the distant future, genetic testing can help individuals to determine the probability of passing on or inheriting certain disorders today.

One of the major impacts of human genome sequencing has been the capacity to recognize disease and the risk of disease through genetic testing. The traditional consideration on diseases has now moved towards the risk of illness. This kind of evolution may make it possible for scientists to understand, prevent or even treat some of the severe genetic diseases. In the present time, genetic tests are available for almost 1000 diseases and the number will increase rapidly over time. however, some genetic testing consequences are attached with individuals which may include ethical, legal and social issues.

What Does Genetic Testing Aim to Accomplish?

Genetic diseases are caused by the alteration of some specific genes responsible for controlling certain traits, for example, eye color and skin color. Mutations that take place in germ cells will be present in every cell of the organism descended from the cell in question. If an individual is carrying altered genes, then it will transmit to all the descendants. With the advancement of molecular biology, it is now possible to detect altered genes by means of a variety of cytogenetic and molecular genetic techniques. These genetic testing techniques can either be used on individuals or members of a particular family.

Following are the reasons for genetic testing:

  • Conformational diagnosis of a symptomatic individual
  • Presymptomatic testing for predicting disease
  • Presymptomatic testing for estimating risk-developing disease
  • Newborn screening
  • Carrier screening
  • Paternal testing
  • Preimplantation genetic diagnosis
  • Parental diagnostic screening
  • Forensic testing

In addition to testing, there are several genetic testing consequences associated with individuals who have gone through the testing. Since genetic testing is accompanied by certain limitations, it is imperative to ensure that before undertaking the test, genetic counseling appropriate to the tests and their implications is available. The main aim of genetic counseling is to notify persons who are faced with the option of whether or not to go through the test, to offer them support before, during, and after the test, and to communicate the results in terms, which enable people to understand them and to encourage free and independent decisions.

Results obtained from genetic testing may affect the lives of individuals, and family members are likely to be affected as well. Some potential risks and limitations of genetic testing include uncertainty in the actual level of risk of cancer. Mutation carriers have been found to have considerably higher levels of psychological distress and carriers stayed more distressed than non-carriers at follow-up. In addition to individual, family issues and psychological issues, genetic testing may have inferences for employment and insurance. It is crucial to handle the information carefully. Some of the critical issues include privacy, informed approval and confidentiality.


(Web): A CAUTIONARY TALE ON GENETIC TESTING: The Case of Foster and Pre-Adoptive Children – https://www.mccormack.umb.edu/research/download/CautionaryTalesGeneticTesting.pdf

(Web): Factors Influencing Intention to Obtain a Genetic Test for Prostate Cancer Risk: A Structural Equation Modeling Approach – https://idea.library.drexel.edu/bitstream/1860/298/9/wayne_melissa_thesis.pdf