Carrier Screening Test: Benefits and Role in Genetic Testing

Carrier screening is a genetic test that detects whether the person carries a specific genetic disorder in the genes or not. It is done for those suspected of inheriting a normal and an abnormal allele associated with the gene.

North America holds the largest market base in the global career screening market, while the Asia-Pacific is expected to grow at the fastest CAGR during 2021-2031.

With the availability of advanced screening technologies, better investment for capitalization, and reimbursement of bottleneck policies related to genetic coverage, the numbers may surpass the estimations.

What is a carrier screening test?

Every person receives two genes, one from the father and the other from the mother. If the allele of genes of any one of the parents carries a disorder, the person is called a ‘carrier’ of that disorder. However, if both the genes received contribute to the same disorder, the person gets the disorder.

A carrier screening test is utilized for this purpose. It is performed to identify if the person is a carrier. Generally, the test detects the recessive genetic disorder inherited from the parents. The test is essential because a ‘carrier’ has either never shown or may show mild symptoms of a genetic disorder.

When is the carrier screening test done?

Usually, carrier screening tests are done either before or during pregnancy. These tests are done to check if the offspring will be affected by any sort of genetic disorder.

Doing the test before getting pregnant (preconception carrier screening) gives you better options because during the pregnancy, the possibilities are only two depending upon the consultation of the doctor, either keep the prenatal fetal or abort it.

Some of the tests done under carrier screening are:

- Cystic Fibrosis (CF)
- Down’s Syndrome
- Fragile X Syndrome
- Sickle Cell Anemia

A carrier screening test is vital for:

- Patients having a family history of a genetic disorder
- Patients belonging to a particular race or ethnicity that have higher chances of catching the strain
- Patients showing mild symptoms of a certain genetic disorder

However, these are generic and do not apply only to the selected groups. Every person should get tested before resorting to impregnation as well as during pregnancy.

How is carrier screening done?

Methods available to perform the test are:

● Targeted Carrier Screening:
Targeted carrier screening implies to those who wish to test the genetic disorders with which they either have a family history or belong to an ethnic/race strata that sports high chances of a certain genetic disorder.

● Expanded Carrier Screening:
In expanded carrier screening, tests are done for various genetic diseases from the same sample irrespective of personal health backgrounds.

● Sequential Carrier Screening:
When one of the parents comes out to be a carrier, the spouse/partner is also tested. If both test positive, there are high chances that the child will be affected with the recessive disorder.

Sometimes, even the family members are tested in some instances; this is called cascade testing.

The test sample includes the saliva or blood of the person to be tested. While the doctor can take the sample and send it to the lab, carrier screening at home is also possible by taking the test via a home kit and then sending it to labs.

Preconception carrier screening paired with cascade testing shows at least 90% of people being carriers even without a prior family history of genetic disorders.

The Global Carrier Screening Market: Overview

The global carrier screening market is an emerging market with tremendous growth opportunities. Recent technological advancements are facilitating the adoption of the technology at a rapid pace.

The global carrier screening market is projected to reach $4,479.0 million by 2031, growing from $1,187.4 million in 2020, at a CAGR of 12.67% during the forecast period 2021-2031.

Factors influencing the global carrier screening market include a rise in personalized medicines and interest in the early detection of genetic disorders. The advent of COVID-19 has accelerated the demand even further.

Further, targeted carrier screening is expected to boost this market. Targeted carrier screening applies to multiple conditions such as spinal muscular atrophy, which is a type of genetic disorder that involves the deterioration of the nerve tissue in the spine muscles.

Emerging applications of preconception carrier testing are likely to increase the demand for preconception carrier testing during the forecast period 2021-2031.

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