A Short Guide for Carrier Screening Technology: Definition, Working, and Benefits

Since the past two years, the Covid-19 pandemic has brought the subject of infectious diseases and their transmission into limelight. In these two years, the medical world is almost completely focused on tackling the pandemic and developing antibiotics and vaccines. Though infectious diseases form a major chunk of the ailments, there are many such disorders which, even though non-communicable, have garnered equal attention from the medical experts. These diseases include lifestyle diseases like cancer, diabetes, heart diseases, etc. and genetic disorders like Turner Syndrome, Down Syndrome, Klinefelter Syndrome, etc.

Genetic disorders are those diseases which are caused due to abnormalities in genome sequence due to mutation in single or multiple genes. Genetic disorders can be caused due to three main reasons:

• Spontaneous occurrence of mutation before development of the embryo,
• Inherited from the faulty recessive genes of the two parents, or
• Directly inherited from a parent who has a genetic disorder.

While the second phenomenon is known as autosomal recessive inheritance, the third one is called as autosomal dominant inheritance. Genetic diseases have long been thought to be untraceable and untreatable. However, stunning innovations and technological advances in the medical world have helped in overcoming both these aspects. Genetic diseases can now be diagnosed and treated.

How Carrier Screening Works?

Carrier screening is one such way in which genetic disorders can be diagnosed. It is a type of genetic test which, generally performed before pregnancy, allows the couple to find out if either of the partners are the carriers of a recessive genetic disease and whether it will be transmitted to the offspring. Thus, it diagnoses the chances of autosomal recessive inheritance.

Carrier screening tests involve minimal physical risks as a simple blood sample is the most common requirement. Generally, in these screening tests one to five genes are tested so as to assess their carrier status. But the scope of these tests can be enlarged in order to cover and test the carrier status of more than 500 genes.

Benefits of Carrier Screening

The global carrier screening market is one of the fast-growing markets in the world and is predicted to continue on this path in the next decade. This growth is on the account of the numerous benefits that carrier screening technique offers. Some of these benefits are mentioned here:

1. Carrier screening allows couples to plan their pregnancy as the technique evaluates the possibility of a transmission of a genetic disorder to the offspring, if conceived.
2. If indeed the tests show a possibility of a transmission, the couple can avail the route of other options like sperm or egg donation or even adoption.
3. The screening tests can also help the couple in deciding whether to opt for specialized care during pregnancy and delivery.
4. Carrier screening tests also help the couple in arranging for the treatment and rehabilitation of the affected child, if the child is indeed born with some genetic disorder.

Future of Carrier Screening

As newer genetic disorders are getting discovered, the utility of carrier screening techniques has increased manifold. Along with this, advanced medical technologies like next-generation sequencing are extensively helping in expanding the scope of carrier screening techniques. Medical experts point out the fact that identifying carriers of different genetic conditions across larger populations will help in getting insights about the nature of genetic disorders. As a result, many researchers have been voicing their opinion in the favor of conducting carrier screening tests on a much larger scale globally.

About the Author(s)

Akhilesh Prabhugaonkar

Akhilesh Prabhugaonkar holds a bachelor’s degree in Electronics Engineering from the reputed Vishwakarma Institute of Technology. He has a special interest in the field of forensics, world history, international relations and foreign policy, sports, agriculture, astronomy, security and oceanography. An ardent bibliophile and melophile, Akhilesh loves to write on topics of his interest and various other societal issues. This love for writing made him enter the professional world of content writing and pursue his career in this direction.