Planning a pregnancy is an exciting time, filled with hope and new beginnings. Along with thinking about nutrition, doctor visits, and lifestyle changes, many couples today are also hearing about genetics and genomic testing. While this may sound complex, the idea is simple: genetics can help you understand certain health risks early, so you can make informed choices and give your future child the healthiest possible start.
One of the most useful genetic tools before pregnancy is called carrier screening. A “carrier” is someone who has a change in one copy of a gene but is usually completely healthy and has no symptoms. Many serious genetic conditions are autosomal recessive, which means a child is affected only if they inherit the same non-working gene copy from both parents. If only one parent is a carrier, the child is typically not affected. However, if both parents are carriers for the same condition, there is a higher chance the child could inherit both non-working copies and develop the disorder. Carrier screening helps identify this hidden risk early, often before a pregnancy begins.
Carrier screening is especially important in the Indian context because of consanguinity and endogamy. Consanguinity refers to marriage between close relatives, such as first cousins, which increases the chance that both partners carry the same recessive gene change inherited from a common ancestor. Endogamy refers to marriage within the same community, caste, clan, or geographic group over many generations. Even if the couple is not closely related, endogamy can increase shared genetic variants within a community. Over time, certain genetic changes can become more common in a group due to what scientists call “founder effects,” where a small ancestral population passes on specific variants repeatedly. This is why some genetic disorders may be seen more frequently in particular communities, even if they are rare in the general population.
The best time to consider carrier screening is before pregnancy, because it gives couples the widest range of options and reduces stress during pregnancy. However, it can also be done early in pregnancy if needed. Testing is usually done using a blood or saliva sample. Results may show that one partner is a carrier, which is common and usually not a concern by itself. The key finding is when both partners are carriers for the same condition. In that situation, genetic counseling becomes very valuable to help the couple understand what the risk means and what steps they can take.
If both partners are carriers, there are several possible paths forward depending on the condition, the couple’s values, and medical advice. Some couples may choose prenatal testing during pregnancy to check whether the baby is affected. Others may consider IVF with embryo testing (PGT) to select embryos that are not affected. Some may plan for early diagnosis and treatment after birth, especially for conditions where early care can make a major difference. The goal is not to create fear, but to give families clarity and control.
Genetics supports family planning by helping couples move from uncertainty to informed decision-making. It can reduce unexpected surprises, guide early medical care, and provide reassurance when results show low risk. Most importantly, it helps couples feel prepared and supported as they plan their family.
In summary, genomic testing—especially carrier screening—can be a powerful preventive step for couples, particularly in communities where consanguinity and endogamy increase shared genetic risk. Whole Genome Sequencing (WGS) can be even more useful because it offers comprehensive screening across a wide range of genes in a single test, including rare and community-specific variants that smaller panels may miss. For many couples, WGS can provide a deeper and more complete understanding of genetic risk, helping them plan pregnancy with greater confidence and peace of mind.
