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Risks involved in Genetic Testing

Last Updated on Jul 05, 2016
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Risks involved in Genetic Testing

It is imperative for a person who is considering genetic testing to weigh the pros and cons before making a decision.


One of the serious drawbacks of genetic testing is the difficulty in interpreting the results. The tests are not designed to determine-

  • if a person will develop the symptoms of a disorder
  • The severity of the symptoms
  • The order of progress.

A person who is positive for a mutation may never develop the disease. Scientists say that environmental factors or other unknown mutations may be required to actually trigger its onset.

Genetic tests for late-onset disorders such as Alzheime's disease have been highly commercialized and are the topic of discussions. These tests are carried out on healthy and presymptomatic people some of whom are identified as being susceptible due to a family history. The tests give only a probability for developing the disorder, and interpreting this probability is a topic of debate.


Genetic testing is prone to provoke a considerable amount of anxiety especially when asymptomatic people test positive and also due to the fact that genetic diseases can only be managed and not cured. It may increase the level of stress and strain family relationships.

Another limitation of genetic testing is the possibility for laboratory errors, probably due to sample misidentification, contamination of the chemicals used for testing, or other factors. This is, of course, a risk inherent to all laboratory procedures.

Physical risks of genetic testing include the methodology employed in prenatal diagnosis like amniocentesis and chorionic villi sampling. Although risks are reduced to the barest minimum at the hands of experts, there is an element of risk for miscarriage involved.

Genetic testing may also increase the risk for discrimination and social stigmatization. Genetic discrimination at work place and by insurance companies is another area of concern.

Despite its drawback, genetic testing can be considered a revolutionary scientific technology that has changed the way a disease can be diagnosed and managed.

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One of my relative's son has low biotinidise enzyme. He was born 2 weeks ago in USA and is using biotin 5MG tablets now. They are in USA and want to come to Chennai - in 3 months from now [2-June-2015]. They were told that a blood sample needs to be tested for biotin every 6 months to adjust the dosage of Biotin prescribed for the baby. Is Biotin tablets for infants available in Chennai? Is there medical centers/labs/doctors at Chennai who treats such biotin related gene disorder? Any early response is greatly appreciated. Thanks !


Dear Doctor, My daughter is suffering from CAH and she need a genital corrective surgery. She is under AIIMS treatment. I do not know if where CAH is being treated. Due to a long waiting time I wish to have an alternate opinion. Please suggest me. Thanks a lot.


Hello Doctor, can you please suggest the best place in India for genetic counseling. My daughter who is now 5 1/5 years old had long segment hirschsprungs diseases at birth which was treated with pull through surgery. Both me and my husband are not aware of any family history of hirschsprungs in our family. Now I am planning for another kid but before that want to be sure of the underlying reason for my daughter's condition and the chances of recurrence in future pregnancies. Any advice on this will be very much appreciated. Thank you!


The best genetic counselor in India by popular consensus is Dr.Ashok Prasad who is a professor also holding a genetic counseling masters from Brandeis University. He works only on a charitable basis in Gorakhpur but am sure could be persuaded to advise you


Hello doctor, we had a child who was effected by spinal muscullar attrophy[type one]. Now we are planning for our next baby. doctor told us to go for CVS testing. but I want to know whether there is any other ideal option for us.Pleas give me suggestions. Subhajit bhowmick


helllo doctor,my wife is a pregnant our doctor is prefre to amniocentesis so plz tell me where i do in delhi,india and how much it cost

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