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Carrier Screening

The Ever Changing Landscape of the Carrier Screening Industry

04 February 2022

Carrier screening helps people determine how likely they are to pass on an autosomal or X-linked disorder to their children. Originally designed for single-disease, ancestry-based screening, technology advancements now allow for multi-disease, pan-ethnic carrier screening, also known as "extended carrier screening. The global carrier screening market is expected to increase at a CAGR of 12.67 %, from $1.18 billion in 2020 to $4.47 billion by 2031. The decrease in the cost of sequencing, the increased emphasis on early identification and prevention of complex genetic abnormalities, and the growing maternal age leading to pregnancy problems are projected to fuel the expansion of the carrier screening market. However, major barriers to market growth exist, including regulatory hurdles in the field of carrier screening and a scarcity of high-complexity testing centers.

The carrier screening industry is a new market with a lot of room for expansion. BGI Group, CENTOGENE N.V., Eurofins Scientific, Fulgent Genetics, Inc., Gene by Gene, Ltd., Illumina, Inc., Invitae Corporation, Quest Diagnostics Incorporated, Sema4, Thermo Fisher Scientific Inc., and Yourgene Health Plc, Laboratory Corporation of America Holdings, Myriad Genetics, Inc., Natera, Inc., and OPKO Health are few companies that dominate the current carrier screening market.

1. Benefits of Identifying Carriers

Firstly, the carrier screening programs cover the diagnosis of more critical diseases and could help in improving couples' ability to make informed decisions. Secondly, it helps in generating awareness around carrier screening methods, which could eventually help reduce social stigma. Lastly, wider carrier screening may be more cost-effective than ancestry-based testing for a single illness.

2. Challenges Facing the Carrier Screening Industry

Carrier screening is part of a larger technological, social, and political framework that will continue to face new issues in the future. How carrier screening is implemented in practice will be influenced by the societal norms about reproductive rights and access to health care around the world. The carrier screening programs that screen for more conditions and reach out to people of all ethnic backgrounds hold a lot of promise for improving access to carrier screening services, maximizing reproductive autonomy. They also help reduce the stigma associated with being a carrier and increase the service's efficiency and cost-effectiveness. The vast scope for carrier screening adoption in developing countries is the key opportunity that is going to fuel the growth of the carrier screening market in the future.

3. Conclusion

The successful deployment of carrier screening programs faces substantial hurdles. The general public is unfamiliar with carrier screening and doesn’t understand genetic disorders. They may not believe that they are at risk of being a carrier and may see the benefits of increased carrier screening services as limited. There is a dispute among medical specialists and the general public over who should be provided these treatments and what diseases should be included in a carrier screening program. Some of these services may be considered low priority by health systems. The genetics community will have to deal with the practical issues that come with pre and post-test counseling. Despite these obstacles, carrier screening programs have historically overcome them for individual or limited panels of illnesses. Lessons learned from previous programs can be used to address future problems in extending carrier screening around the world.