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Frequently Asked Questions

FAQ

Your Genetics Questions Answered

1. What is DNA?

DNA is the hereditary material carried by an individual. This DNA resides in every cell of the individual's body and encodes all the information needed for life.

2. What is a gene?

A gene is the functional unit of an individual's DNA. There are about 22,000–25,000 coding genes in the human DNA. These genes code for important proteins that help as building blocks for growth, development, reproduction, and body metabolism.

3. Who is a Clinical Geneticist?

A Clinical Geneticist is a trained professional who evaluates patients or their families for possible hereditary diseases, analyzes clinical history, elicits a complete family tree, formulates treatment plans, and helps understand the risk to other family members.

4. Are these disorders very rare?

Individually they may be rare (<1:2000 per EU definition), but as a group, nearly one in every 13 persons will live with a rare disease at some point in their life. India shares nearly one-fourth of the world's rare disease burden — approximately 9–10 crore individuals.

5. I have an autistic child. Will my subsequent children be autistic as well?

Autism can be due to various causes: structural brain disease, metabolic derangements, infections, exposure to toxins, genetic causes, etc. A consultation with a geneticist will aim at evaluating the child for an underlying genetic cause. This will help understand the risk of recurrence and available options for future pregnancies.

6. What is the cause for recurrent miscarriages?

One of the causes for recurrent miscarriages is an underlying chromosomal problem in either partner. Other causes include issues in the uterine cavity, metabolic variations (like diabetes), thyroid dysfunction, and bleeding/clotting issues.

7. Am I at fault if my child has a genetic disease?

No parent is ever at fault. When someone carries a genetic variation, there is often no way to know until they undergo genetic testing. Many parents are silent carriers for generations before having a child who is affected. Your genes are something you are born with and cannot change.

8. What is Genetic counseling?

Genetic counseling is the process of educating families about the nature of the condition, its inheritance pattern, implications on the health of the family, and strategies to cope or minimize risks for the future. It is a vital, non-directive service provided by genetic specialists.