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What Is Genetics?

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What Is Genetics?

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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.

Medically reviewed by

Dr. Sneha Kannan

Published At September 13, 2019
Reviewed AtJuly 31, 2023


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?

  • Couples with previously affected children.

  • Genetic problems in parents.

  • Parents known carrier for a genetic disorder.

  • Family history of genetic problems.

  • Anomaly in an ongoing pregnancy.

  • Positive screening test for Trisomy.

  • Multiple pregnancy losses.

  • Advanced maternal age.

  • Infertility.

  • Teratogen exposure, that is, drugs, radiation, or evidence of viral infections like chickenpox.

  • Family history of recurrent or rare cancers or childhood cancers.

Steps of Genetic Evaluation, Counseling, and Management:

  • Giving empathy and support to the unfortunate families.

  • Attempt to confirm a genetic diagnosis - Proper history, examination, clinical evaluation, narrowing down to probable and closer clinical diagnosis, followed by genetic testing.

  • Treatment – Curative or supportive.

  • Anticipatory guidance - The genetic disorder or the syndrome can have various evolving complications related to other organ systems; this can be looked for and managed early.

  • Risk prediction for next pregnancy or at-risk family member.

  • Identifying preventive strategies.

  • Possibility of prenatal diagnosis by chorionic villous sampling or amniocentesis or by pre-implantation genetic diagnosis.

  • Postnatal evaluation, and if needed, to do tests for the newborn.

  • Follow-up of the child after birth.

  • Offering reproductive options.

  • Offer solutions and support through parental support groups, governmental schemes, and charity organizations.

For Strategizing Next Pregnancy or Prevention:

  • Risk determination.

  • Carrier screening for the parents.

  • Discussing the preventive options available.

  • Attempting early identification during pregnancy by testing or antenatal ultrasound.

  • Planning prevention by prenatal diagnosis.

  • Preimplantation genetic diagnosis.

  • Donor options based on the carrier status.

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

  • Pregnancy period - Ideal time, because it gives us enough time to analyze the problem and arrive at a diagnosis, proper planning, and monitoring of pregnancy and do interventions at the right time.

  • Ongoing pregnancy - For anomalies found in antenatal ultrasound, yes! But, if in case of an index child with an abnormality is referred for evaluation during the current pregnancy, it will give us very little time for testing the affected child and proceeding with the prenatal testing of the fetus.

  • Post-delivery - Abnormality found postnatally.

  • Premarital – Significant family history is suggestive of genetic disorders, particularly in close relatives.

Testing Options:

The genetic testing options available are as follows:

  • Karyotyping.

  • FISH (Fluorescence in situ hybridization).

  • CGH (Comparative genomic hybridization) microarray.

  • qPCR (Qualitative polymerase chain reaction).

  • MLPA (Multiplex ligation-dependent probe amplification).

  • Sanger sequencing or next-generation sequencing.

  • Clinical or whole-exome sequencing.

  • Whole-genome sequencing.

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.


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.

Frequently Asked Questions


What Are the Three Major Classifications of Genetics?

Genetics can be classified into
- Single genes.
- Chromosomal.
- Multifactorial.


What Are the Different Kinds of Genes?

The two different types of genes are
- Dominant genes.
- Recessive genes.


What Leads to Genetic Illness?

Genetic anomalies are conditions brought on by changes to the chromosomes or genes. Gene mutations are the root cause of inherited disorders, and they can be in one gene, multiple genes, or a combination of gene mutations.


How Does Genetics Affect Human Growth?

Major growth genes and minor growth genes are both involved in human growth. Major growth genes influence human growth fundamentally, and when these genes are mutated, growth failure occurs, which is recognized as a single-gene disorder.


What Exactly Are Genetic Disorders?

A genetic disorder is a condition brought about by mutation in a person’s DNA sequence. Apert syndrome, Charcot Marie tooth disease, ankylosing spondylitis l, albinism, Angelman syndrome l, congenital adrenal hyperplasia, ankylosing spondylitis, and other diseases are examples of genetic disorders.


How Are Genes Constructed?

DNA is the component of genes. Some genes serve as blueprints for the synthesis of proteins. Many genes do not. A few hundred DNA bases to more than two million bases make up a gene in a human.


Can Genetic Conditions Be Treated?

Gene changes that are essentially present in every cell in the body cause many genetic disorders. These disorders consequently frequently impact multiple bodily systems, and the majority cannot be treated.


What Is the Most Prevalent Genetic Disorder?

People with ancestry from a specific region are more likely to develop certain genetic disorders. The most prevalent, fatal genetic disease in the US is cystic fibrosis (CF).


Can Genetics Be Improved?

Food and nutrition are important because they have an impact on both the body and the mind. Changes may be triggered by stress. The best genes will be activated by an active lifestyle. Adapt your surroundings.


What Can Be Done to Combat Genetic Diseases?

The majority of genetic treatment plans do not affect the underlying genetic mutation. However, a few disorders have been treated with gene therapy. The goal of this experimental method is to prevent or treat disease by altering a person’s genes.


Can Genetic Diseases Cause Death?

Several of the most prevalent genetic disorders cause infant mortality. Trisomy 21 (nine percent), spinal muscular atrophy (five percent), 22q11 deletion syndrome (four percent), trisomy 18 (four percent), CHARGE syndrome (three percent), and trisomy 13 (two percent) were the most frequent genetic causes of death.


What Genes Are Inherited Only From the Father?

All males receive a Y chromosome from their father, so all characteristics that can only be found on the Y chromosome were passed down from father to son. There is a distinct paternal lineage for Y-linked traits.


Who Has More Genetic Strength, the Mother or the Father?

In terms of genes, everyone has more maternal genes. The mitochondria, which are tiny organelles found inside your cells and which one can get from their mother, are to blame for this.


Is Intelligence Inherited?

The majority of human behavior and cognition are complex traits that are influenced by both genetic and environmental factors, as is the case with intelligence. More than any other trait, intelligence is highly heritable and best predicts significant outcomes in terms of education, employment, and health.
Dr. M. Pradeep Kumar
Dr. M. Pradeep Kumar

Clinical Genetics


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