Why is Performing Carrier Screening Important for Parents Before they Have their First Child?

Genetic abnormalities and disorders are increasingly prevalent, and hence they account for nearly about 2%-5% of all live births across the globe, contributing to approximately 30% paediatric hospital admissions. In addition, these genetic disorders and congenital abnormalities nearly 50% of childhood death in industrialized countries across the globe. Hence, carrier screening comes out as an effective method among parents to remarkably detect the genetic disorders in their body and rate the potential chances of it being inherited to their child. There can be a number of reasons for the high prevalence of such disorders among children such as the increasing rate of cultural and traditional consanguineous marriages, that subsequently increases the risk of contracting perilous autosomal recessive disorders such as sickle cell anaemia, cystic fibrosis, tay-sachs disease, and many more.

A relatively high occurrence of haemoglobinopathies and glucose-6-phosphate dehydrogenase deficiencies in various countries across the globe can also lead to the detrimental disorders. In addition, the ever-rising population and increasing prevalence of large family sizes may subsequently surge the number of affected children in families having autosomal recessive conditions. In spite of stimulating initiatives taken by the government on rising paediatric problems, pertinent control of congenial abnormalities, and genetic disorders does not get enough importance and recognition in countries of the Eastern Mediterranean Region (EMR). Thus, the unavailability of proper public health measures directed towards formidable precautions against genetically determined diseases seems to be an alarming problem. Lack of productive genetic services along the ignorance of adequate health care before and during pregnancy also seems to be a distressing issue that adversely contributes to the rising cases of such disorders. According to the report published by Research Dive, the global carrier screening market is expected to garner a revenue of $7,157.60 million by 2028, growing exponentially at a CAGR of 16.20% during the forecast period.

What are the Most Frequent and Extensively Contracted Genetic Diseases Across the Globe?

Genetic carrier screening test is a genetic diagnosis test that is capable of detecting and identifying if either of the parents is a carrier of any kind of genetic disease, and hence rate the chances of child inheriting those genetic disorder from either of the parents. Some of the most commonly contracted genetic diseases are given below.

1. Cystic Fibrosis

It is a genetic disorder that adversely affects lungs, clogging the airways and trapping the bacteria because of thick and excessive mucus. Its long-term complications might include difficulty in breathing as a result of persistent lung infections. It usually influences the lungs but without proper care it can also affect kidneys, intestines, pancreas, and liver.

2. Sickle Cell Disease

It is a group of red blood cell disorders that adversely alters the haemoglobin levels of an individual. Healthy red blood cells are usually round and disc-shaped, but if a person has SCD, their red blood cells become C-shaped similar to farming tool called sickle, and hence the name. This leads to the reduction of red blood cells or anaemia.

3. Tay-Sachs Disease

It is a type of genetic disorder that caused a creation of fatty substances in the brain that leads to the obliteration of nerve cells in spinal cord and brain. Its leads to both mental and physical problems in babies when they are around three to six months of age, making it difficult for them to crawl, sit, or turn over.

4. Down Syndrome

It is a genetic disorder that is caused when a person has an extra genetic material from chromosome 21 due to abnormal division of cell. A person with down syndrome evidently has a distinct facial appearance, and might also experience developmental delays along with intellectual disability.

The Way Ahead for Carrier Screening in the Coming Years

The demand for carrier screening is exponentially increasing due to the rising prevalence of genetic disorders across the globe. Increasing awareness and subsequent surge in the initiatives taken by the government of various countries regarding paediatric disorders is further expected to bolster the demand for carrier screening. In addition, appreciable advancements in healthcare infrastructure and extensive availability of specialized healthcare professionals have enabled pregnant women to increasingly adopt and perform carrier screening. Moreover, rising demand for NGS (Next-Generation Sequencing) technology in carrier screening is further expected to create tremendous opportunities for growth of the global carrier screening market in the coming years.

About the Author(s)

Princy A. J

Princy holds a bachelor’s degree in Civil Engineering from the prestigious Tamil Nadu Dr. M.G.R. University at Chennai, India. After a successful academic record, she pursued her passion for writing. A thorough professional and enthusiastic writer, she enjoys writing on various categories and advancements in the global industries. She plays an instrumental role in writing about current updates, news, blogs, and trends.