Everything to Know About Genetic Carrier Screening

A human has two copies of every gene present in the body. One gene is inherited from the mother, and one is from the father. These genes are responsible for passing the family characteristic from parents to the child, such as eye color, hair color, and they also pass on the diseases and genetic conditions.

The understanding of inheritance and genes has been developed at a high rate over the past few decades. Earlier, scientists used to think that the symptoms of child diseases were an average of the problems their parents had. However, the fact is these diseases are passed from parents’ genes to offspring genes, and they interact in several complex manners.

But now, with the help of technology, one can detect the early threats of health problems that can be passed to the offspring from the parents. With the help of genetic carrier screening, one can check the conditions of parent genes and can better understand the possible chances of transfer of health problems from parents to their offspring.

Genetic carrier screening:

Carrier screening refers to a kind of genetic testing that is done for analyzing deoxyribonucleic acid( DNA)through saliva or blood samples to know the status of several diseases, which can pass from parents’ genes to offspring’s genes.

Nowadays, couples prefer to get the genetic carrier screening test done before deciding to have a child. The test helps decide the chances of genetic conditions getting passed from parents to offspring. When the genetic carrier screening test is done during or before the pregnancy, it allows the person to find the possibilities of offspring getting genetic disorders and take the required steps for the treatments of the same.

It is highly important to understand the basic difference between the diagnosis and screening test. The objective of the screening test is to scan the risk chances, while the objective of the diagnostic test is to establish the absence or presence of diseases.

There can be cases where both parents are carriers, and they both will be passing the genetic mutation to their baby. In such cases, the child ends up having diseases. It is also possible that the person passing the genetic mutation to their child might not have the same condition for themself.

Who is said to be a carrier?

A carrier is referred to as people having changes in their one gene pair, whereas the other pair of genes is working normally. Sometimes, it is also said that the carrier may have a certain disease but no symptoms for the same.

In several families, recessive genes can easily be passed through ages and generations without even getting known by anyone. A recessive type of disease can only take place in the child if both the parents are carriers.

Ways in which genetic carrier screen tests help:

Genetic carrier tests help in providing the parent’s information regarding the possibilities of health issues that can be passed to future offspring. The results of the test can help in reducing the risk of getting severe genetic conditions.

The value of the decision depends on when the person is getting the carrier screening done. It can be highly beneficial if the test is done before pregnancy.

If both parents are found to be carriers before having the child, they still have got several options to reduce the risk and have a biological child. Following are the possible ways:

• Couples can try for conceiving naturally, with the help of their own sperms and eggs, knowing that the chances of a child getting affected are approximately 25%. Couples can also plan to get the genetic test done for the fetus. If there are two copies of the relevant disease variant found in the fetus, then the parents can decide to stop the pregnancy or plan to raise a kid with genetic conditions.
• Couples who are both carriers can get the donor sperm or egg without having similar genetic variants.

Market insight of carrier screening:

The global carrier screening market is growing at a good pace, and the reason behind the growth is the decreasing price of sequencing and increasing complications related to pregnancy.

However, significant challenges such as regular challenges in screening tests and a lack of testing centers are hindering the growth of the market.

As per the report of BIS Research, the global carrier screening market is expected to touch $4,479.0 million by 2031 from $1,187.4 million in 2020, growing at a CAGR of 12.67% during 2021–2031.

North America region holds the maximum share in the screening market. The reason behind its domination is advanced healthcare infrastructures, rising per capita income, and improving reimbursement policies.

Conclusion:

The genetic carrier screening test is expected to provide the couples with better information and reducing the chances of passing genetic conditions to their future offspring. Getting this test done before a conceptioncan facilitate better decision making and further help in reducing the risk chances for the coming child.