Role of the geneticist / genetic counselor
A geneticist is a specialist in medical genetics and counseling who helps to provide a better understanding of a genetic disease and its implications.
Most often, interpretation of the results of genetic testing is complicated even for trained health- care professionals. Specific training is required to assess the results of genetic testing to counsel the affected individuals and their families appropriately.
If you have been recommended for genetic testing or, if you have been diagnosed with a genetic disorder, your doctor should refer you to a genetic counselor who is a medical geneticist. With specialized backgrounds in medical genetics and counseling, they work alongside medical personnel and engage in the following -
- Confirm the diagnosis of the genetic disorder
- Provide information regarding the disorder and help to provide an understanding of the disease, its present and future implications.
- Provide information regarding the degree of risk involved
- Provide information about passing on the disease to the next generation
- Answer querries that the individual or the family members may have related to the disease.
- Offer psycho-social support to the affected individuals and close family
- Offer information on the medical management of the disease
A genetics expert can provide details regarding the benefits, the limitations and the risks involved in taking a genetic test.
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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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