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What Is Genetics?

Published on Sep 13, 2019 and last reviewed on Aug 11, 2022   -  3 min read

Abstract

Genetics is the study of how certain traits and risk for diseases are passed to children from their parents. Learn about genetic disorders and available genetic testing options.

What Is Genetics?

Introduction:

Genetics is a novel and rapidly growing field of medicine. Genetic disorders were previously considered rare and not worth looking for. However, in a country like India with 130 crore population, we are expected to see more patients with genetic disorders than any other country in the world. The need of the hour is that we clinicians should actively look for the markers of genetic disease and start diagnosing and treating patients accordingly.

Who Needs Genetic Evaluation?

Steps of Genetic Evaluation, Counseling, and Management:

For Strategizing Next Pregnancy or Prevention:

When to Refer or Evaluate a Family with a Genetic Disorder?

Testing Options:

The genetic testing options available are as follows:

All these tests are available in various labs across India and internationally, and most of these tests are done now at affordable pricing. The clinician’s responsibility is to motivate the family, making them realize the importance of these testing, giving them adequate time to save money and do these confirmatory tests. The selection of the test, reliability of the lab, and the interpretation of the results are the key factors in successful genetic testing and diagnosis.

Conclusion:

Genetic disorders are not very uncommon in day to day pediatric practice. They carry a significant risk of recurrence too. Finding out the exact cause by proper testing helps the physician in providing effective management and anticipatory guidance. Screening of parents and family members, risk assessment for next pregnancy, and preventive strategies also help.

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Last reviewed at:
11 Aug 2022  -  3 min read

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