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The Future of Genetic Testing

Last Updated on Jul 05, 2016
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The Future of Genetic Testing

Genetic testing is, indeed, not the final destination. The ultimate goal is to find therapies that zero in on the disease- causing gene and fix it for life


With each passing day, the role of genetics is evolving at a greater pace to involve a larger number of diseases. Specific genes have been attributed to illnesses like cancer, mental illness, heart disease, diabetes, obesity and many other medical problems. Greater understanding, on the role of genes in these diseases, is required.

Gene therapy offers a much-needed panacea for certain genetic maladies. It is being used to treat cystic fibrosis and ADA deficiency but with restricted success. Gene therapy is being considered for disorders such as Sickle cell anemia, thalessemias and other blood disorders. However a complete cure for most of the diseases is still a long way off.

Genetic testing is,indeed, not the final destination. The ultimate goal is to find therapies that zero in on the disease- causing gene and fix it for life. Current research is focussing on the the variations in the genes of people with certain illnesses and how these variations differ from the genes in a normal individual. This will allow drugs and medications to be designed to target the affected genes instead of the current trial and error method.


Stem cell research is another genetic option with several countries opening stem cell banks. The stem cells are got from the blood of a donor, who is injected with a growth hormone five days prior to the transfusion day. Stem cells are amply released into the donor’s blood stream and they are collected and processed for the recipient’s use. The stem cells can also be collected fron cord blood during delivery. Stem cells have great potential to treat several diseases. A US-based organisation has undertaken to create a registry of non embryonic stem cell donors in India this year. This will usher in hope to several indians suffering from haematological diseases like leukemia.

The Human Genome Project, which was completed four years ago, has managed to map all of the genes on the human chromosomes. A part of the ‘Know thyself’ strategy, the genome map is a pointer to the progress made in finding definite cures for several ‘now incurable’ diseases. Despite its limitations, genetic testing has definitely improved the quality of several lives, by illuminating the road of ignorance

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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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