Younger generation keen to get their genes tested – To avoid future complications

Craze for genetic testing is on the rise since last 2-3 years, as more and more people are keen to determine their vulnerability towards inherited diseases. Genetic diagnosis identifies the genetic susceptibility to certain kind of abnormalities. This test can identify the changes in the chromosomes, genes and protein structure to identify inherited disorders by analyzing small samples of blood or certain body tissues.

The medical test has now become convenient for people to confirm theirchances of developing or being passed on with certain genetic condition inorder to take precautionary measures.

Genetic testing is useful at younger ageIf the results obtained from the tests reveal negative difference it isa big relief for the patients. But in case if a genetic difference isidentified, the results provide ample time for decision making for preventionof the upcoming condition. The results are helpful in allowing early treatmentoptions which can have large scale implications with respect to the effect onthe quality of life and their life expectancy.''With the availability of newborn genetic screening, many parents are helpedin identifying the abnormal conditions in the new born at an early stage, whichgives better treatment option from start.'' Says CA (Dr) Ruchi Gupta, Founderand CEO, 3hcare.in

Research testing and Clinical testing is designed to find newinformation about genes and genetics, to learn more about a specific disorderin terms of how it affects an individual or a family unit.Genetic Testing during PregnancyAs per the reports obtained from UNICEF 2015-16, the annual mortality rate ofchildren under the age of 5 years in India is the highest in the world,contributing to about 1.4 million cases. More than 10% of the total isattributable to congenital malformations and chromosomal abnormalities.Though genetic testing is primarily carried out as a clinical diagnosis, butthe added benefit includes prognosis and identifying the gene carriers. Womenconceiving after the age of 35 years are at a higher risk of giving birth tochildren with such abnormalities and disorders.Acoording to CA (Dr) Ruchi Gupta, Founder and CEO, 3hcare.in. As the genes areresponsible for influencing the baby’s skin color and texture of hair and eyes,in the same way it also influences various birth defects. Pregnant women arethus advised to undergo all the possible genetic screening tests in the firstand the second trimester itself.This will be helpful for them to evaluate therisk for the potential problems in their developing fetus.The most common defects that are screened for include – Down’s syndrome, splitspine defect, sickle cell anemia, and cystic fibrosis among many others.What are the types of tests?New Born Screening - In order to identify congenital disorders, new born aretested for abnormalities so that they can be provided with early treatment orprevention options.Diagnostic Testing - This is used to rule out specificgenetic or chromosomal condition. Diagnostic testing can be done before birthor any time in life. This is helpful in preventing the condition by makingchanges in the lifestyle habits like diet control, exercise etc. CarrierTesting - This test is done to identify people who carry one copy of a genemutation that, when present in two copies, causes a genetic disorder.Individuals who have a family history of a genetic disorder go through this.Sometimes both parents are tested, this test provides information about acouple's risk of having a child with a genetic condition.Prenatal Testing -This is an important test , done to detect changes in the genes or chromosomesof a fetus before birth. It is tested before pregnancy to check the increasedrisk of baby having genetic or chromosomal disorder. Pre-implantation Testing -It is also called pre-implantation genetic diagnosis (PGD) which is aspecialized technique that can reduce the risk of having a child with aparticular genetic or chromosomal disorder. This test is also very beneficialto detect genetic changes in embryos that were created using assistedreproductive techniques such as in-vitro fertilization. Predictive testing -Predictive testing is done to identify mutations that increase a person's riskof developing disorders with a genetic basis, such as certain types of cancer.Forensictesting - The forensic tests are used to identify an individual for legalpurposes through DNA sequences. This test is used to identify crime orcatastrophe victims, rule out or implicate a crime suspect, or establishbiological relationships between people like paternity. How is genetic testing done?Samples of blood, hair, skin, tissues present in the inside of the cheeks oreven the amniotic fluid that surrounds the fetus in the womb can be tested toobtain the results. The observations need to be monitored by the expert andhighly qualified professionals for optimal results.In case of screening the new born, doctor needs to be careful while performingthe blood test and needs to take parent’s consent.

BY CA (Dr) Ruchi Gupta, Founder and CEO, 3hcare.in


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