Understanding genetic Testing

Genetic testing looks into an individual's genetic material and helps to predict present or future abnormalities and whether these abnormalities can be passed to an offspring. This area of medical science has increased tremendously in the past two decades and is rapidly developing at an unprecedented rate due to the Human Genome Project.

Types of genetic testing

Currently the following areas are focused in genetic testing:

Testing for carrier identifications: Couples from families having history of genetic disorders and who are planning to have children undergo these tests to see if there is a possibility of their children acquiring them. Some of the common tests are for cystic fibrosis and sickle-cell trait.

Prenatal identification: The baby can also be tested for certain genetic disorders before it is born (fetus). For example testing for Down's syndrome is the most common of all such testing.

Newborn screening: This testing is a part of preventing health measure. Tests for phenylketonuria (is an inherited error of metabolism caused by a deficiency of an important enzyme resulting in mental retardation, organ damage, unusual posture).

Testing for late-onset disorders: Genetic testing can predict the predisposition to some adult diseases such as heart disease and cancer.

Susceptibility testing: This kind of testing is done to workers to see their susceptibility to various toxic chemicals, gases, and dusts, that are present in their work environment and whether it may cause them serious disabilities in later life.

Forensic evidence: Genetic testing for parentage (DNA fingerprint) has been used in legal cases to resolve issues of paternity, criminal investigations, or to identify the dead bodies retrieved from major accidents or war.

The pros and cons

Genetic testing is a complex process and depend on both the laboratory procedures and the accurate interpretation of the results. The results are often complex for even trained people and the possibility of false positive or false negative results is very high as well.

It must be kept in mind that though genetic testing can be very useful and life saving in some cases, it has a flip side. Information obtained from genetic testing raises ethical and legal questions about its uses by society. There are a lot of legal, ethical, and social issues that should be considered before consenting for a genetic test. Information from genetic testing can have great implications and can effect the individual's right to insurance and employment as well. One must have the knowledge of the benefits, risks and effectiveness before consenting to any genetic testing.

Further reading

http://www.nlm.nih.gov/medlineplus/genetictesting.html

http://www.quackwatch.org/01QuackeryRelatedTopics/Tests/genomics.html

http://www.ornl.gov/sci/techresources/Human_Genome/medicine/
genetest.shtml#regulate

Compiled by: Indrajit Sinha; Last updated: 28.10.07 © Medhospital Foundation

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