What is a rare disease?
Each rare disease affects a small percentage of the population.
There are, however, a large number of rare diseases.
Together, in India, approximately 70 million people (1 in every 20) are affected with rare diseases.
Why are rare and inherited diseases complex to identify?
Often times, complex inherited diseases are diagnosed with their symptoms, while the genetic angle is overlooked. This leads to misdiagnosis and delayed treatments.
Genetic testing can help find answers at the right time for better outcomes
A real story
A young couple married within the same family had recently lost a male child to a disease called Epidermolysis bullosa (EB). They were planning on another pregnancy, but were anxious because of their previous loss.
It was a challenging situation for the couple since genetic testing was not done for the child.
Our genetic counsellors suggested that the couple undergo Strand® Rare Disease Test to identify if they carry the genetic changes responsible for EB, and if the next pregnancy could be at risk.
The test revealed the mother and father to carry a genetic change (carry a copy of the bad gene but remain unaffected) which gave rise to EB in the child. However, parents who are carriers for this genetic change have a 25% chance to pass on bad copies of the gene during a pregnancy.
Based on the test results, the couple were advised to undergo prenatal diagnosis (genetic test of the fetus) for all future pregnancies.
The mother conceived shortly after this. Prenatal testing revealed that the baby was a carrier just like the parents and hence, would not be affected.
Who should be tested?
Genetic testing can be beneficial for
- Identifying inheritance risk when a family member is affected with a genetic disease
- Accurate diagnosis for better management and treatment
- Understanding risks while planning a pregnancy
- Abnormal test results during pregnancy screening