It’s all in the genes
CHENNAI: As parents, we take several precautionary steps to ensure that our little one is safe and healthy. While parents of this generation go above and beyond to educate themselves about various medical frontiers to secure the future of their child, there are still a few areas that remain grey. One of them being the importance of genetic testing and its role in treating childhood on-set disorders.
In urban areas, congenital malformations and genetic disorders are the third most common cause of mortality in newborns. With a very large population and high birth rate, and consanguineous marriage (marriage between close relatives) favoured in many communities, prevalence of genetic disorders is high in India. Dr Prakash Gambhir, chief medical scientist, LifeCell, lists five key points about genetic testing to help parents provide a healthy future for their child.
What is genetic disorder?
Genetic disorder is any disease caused by a change in the DNA sequence either in parts or whole. Some people carry genes of genetic illnesses and might not show any signs themselves. Symptoms are caused only if two of the problem gene are inherited. In the case of babies with genetic disorders, a problematic gene is passed onto the baby by each parent. Some of the common genetic disorders among children are thalassemia, sickle cell disease, cystic fibrosis, spinal muscular atrophy, fragileX, hemophilia, and autism.
What is genetic testing?
It is a simple blood test that examines your DNA to check for alterations in your genes that may lead to illnesses. The test can help doctors identify defective genes and recommend diagnosis/treatment effectively.
- Early detection and cure
In the case of most genetic disorders, early diagnosis and intervention play a critical role. This means early genetic testing will help to prevent, treat, or improve the quality of life for patients through medication, dietary modifications, or other therapies. A recent study showcased that it takes more than seven physicians and four years to diagnose such rare disorders. A simple blood test during the course of the pregnancy can help your doctor intervene with the right treatment plan. - Birth defect
If you are parents of a child with birth defect, it is important to understand the root cause and be prepared for your second child. Not all birth defects are genetic problems and it could be due toseveral other causes such physical trauma before birth, infection or exposure to toxins. Genetic testing will help in identifying the likelihood of inheriting a genetic disorder. - Inherited illness
Do you know a close relative with inherited genetic disorder? It is vital for parents in this case to undergo a genetic testing to avoid/eliminate any doubts. This precautionary step will help doctors understand your family history in detail and be prepared to fight for the safety of your child. - Identify responsiveness
to medications Early genetic testing for newborn can also help understand how baby will respond to a medication or certain treatments. Pharmacogenomics is the tailoring of drug treatments to people’s genetic makeup, a form of ‘personalised medicine - Expanded coverage of conditions
Standard newborn screening can only screen for limited number of conditions and the results are also dependent on various internal and external factors. Newborn genetic testing goes beyond the limited number of conditions and being a DNA-based test, the results are not influenced by any factors.