Genetic Testing seeks to analyze and evaluate the DNA of an individual for the purpose of determining the presence of a gene that is responsible for or has the potential of causing an illness. Should there be any indication of such gene, it is also the responsibility of the medical professional performing the Genet test to appraise the risks involved in developing such disease, risks of passing such disease on to the next generation, and the risks of recurrence.
Depending on the type of Gene test given, the application may be used for Diagnostic, Predictive, Carrier, Pre-natal, Pre-implantation, and Newborn.
For Diagnostic purposes, the Gene test given is Diagnostic testing. It is the test needed to confirm or rule out any known or suspected gene that can be a cause for a genetic disorder in symptomatic individuals.
In carrying out such testing, the professional initiating it should remember some points. The Diagnostic test on the DNA may reap information that should be at a lesser risks and lower cost. It can be administered to anybody who is symptomatic and of any age bracket.
In order to successfully establish the diagnosis, the Gene test may require other types of test. After the diagnosis of a genetic condition is confirmed, the medical management of the concerned individual shall change. Among the implications involved are reproductive and psychosocial both for the concerning individual and family members. However, to establish a clinical diagnosis, the Diagnostic testing may not always be the best approach.
For the purpose of prediction of an occurrence of a disease-carrying gene, a Predictive testing may be done. It is normally given to individuals who are asymptomatic of a genetic illness. There two types of Predictive testing, the pre-symptomatic and pre-dispositional. In pre-symptomatic, the development of symptoms is eventual when there is a gene mutation. A sample of a disease that can be distinguished using pre-symptomatic is the Huntington Disease. In pre-dispositional, the development of symptoms is likely but it is not certain whether or not the gene mutation is present.
In carrying out the Predictive testing, the professional may find some pointers to be helpful. For example, the impact of the result of Predictive testing can be life-changing despite not having the medical indications. Also, since the test can have psychosocial implications, the professional conducting the test should practice careful assessment of the individual, counseling and follow-up visits.
There are many laboratories that strictly require informed consent and Genetic counseling; if there are no proofs of these requirements, the test is not carried out. Moreover, if having early diagnosis could help reduce morbidity or mortality, the Predictive testing is medically indicated.
However, for the purpose of establishing a linkage within the family or in an individual, the identification of particular gene mutation should first be accomplished before the Gene test is done. And if the individual to have a Predictive Genetic testing are asymptomatic children whose parents are at risk or have an adult-onset genetic illness, the test is strongly discouraged without medical intervention.
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