Rising Utilization of Expanded Carrier Screening Panels for Genetic Disorders

Published: Oct 2023

The global carrier screening market is anticipated to grow at a CAGR of 17.1% during the forecast period (2023-2030). Preconception, prenatal and population-based carrier screening are available to provide prospective and current parents with information about the risk of passing on genetic conditions to their offspring. Direct-to-Consumer (DTC) tests offer individuals an alternative to going through healthcare providers to obtain carrier screening results. High-risk populations or ethnic groups with a higher incidence of specific genetic disorders may be recommended to undergo screening. Furthermore, the market’s growth is attributed to high carrier reliability and disease prevalence across the globe. Autosomal recessive conditions and X-linked conditions with carrier frequencies greater than 1/200 and disease prevalence greater than 1/40,000, respectively, have been selected for the panel due to their potential effects on public health, making it applicable to a variety of patients. For instance, in February 2023, Fulgent Genetics, Inc. launched the immediate availability of their new Beacon787 expanded carrier screening panel. Beacon787 is a gene panel that includes 787 genes associated with autosomal recessive and X-linked conditions. It includes all the American College of Medical Genetics and Genomics (ACMG) tier 3 genes recommended as a pan-ethnic screening approach for pregnant patients and those planning a pregnancy. This panel has genes with carrier frequency of >1/200 for autosomal recessive conditions and disease prevalence of >1/40,000 for X-linked conditions.

Browse the full report description of “Carrier Screening Market Size, Share & Trends Analysis Report by Type (Expanded Carrier Screening, and Targeted Disease Carrier Screening), by Medical Condition (Hematological, Pulmonary, Neurological, and Others), by Technology (DNA Sequencing, Polymerase Chain Reaction (PCR), Microarrays, and Others), and by End User (Hospitals and Clinics, Reference Laboratories, Government and Public Health Programs, and Others) Forecast Period (2023-2030)” at https://www.omrglobal.com/industry-reports/carrier-screening-market

Furthermore, there is an increase in the number of individuals and couples who are interested in assessing their genetic risks for a variety of conditions in order to make informed decisions about family planning. in April 2019, SOFIVA GENOMICS, launched the new SOFIVA Carrier Scan Providing couples with technology to test for genetic diseases using next-generation sequencing and capillary electrophoresis. More than any other test now in use in the industry, SOFIVA Carrier Scan can screen for as numerous as 333 different diseases in a single test, including prevalent genetic diseases including Thalassemia, Spinal Muscular Atrophy, Fragile X Syndrome, and Glucose-6-Phosphate Dehydrogenase Deficiency.

Market Coverage

The market number available for – 2022-2030

Base year- 2022

Forecast period- 2023-2030

Segment Covered- 

o By Type

o By Medical Condition

o By Technology

o By End User

Regions Covered-

o North America

o Europe

o Asia-Pacific

o Rest of the World

Competitive Landscape- includes Congenica Ltd, Illumina, Inc., Invitae Corp., Myriad Genetics, Inc., and Natera Inc., among others.

Key questions addressed by the report

What is the market growth rate?

Which segment and region dominate the market in the base year?

Which segment and region will project the fastest growth in the market?

Who is the leader in the market?

How are players addressing challenges to sustain growth?

Where is the investment opportunity?

Global Carrier Screening Market Report Segment

By Type 

  • Expanded Carrier Screening
  • Targeted Disease Carrier Screening

By Medical Condition

  • Hematological 
  • Pulmonary 
  • Neurological 
  • Others (Familial Mediterranean Fever (FMF), and Fragile X Syndrome)

By Technology

  • DNA Sequencing
  • Polymerase Chain Reaction (PCR)
  • Microarrays
  • Others (Next-Generation Sequencing (NGS), Screened Conditions, and Direct-to-Consumer Testing)

By End User

  • Hospitals and clinics
  • Reference Laboratories
  • Government and Public Health Programs
  • Others (Pharmaceutical and Biotechnology Companies)

Global Carrier Screening Market Report Segment by Region

North America

United States

Canada

Europe

UK

Germany

Italy

Spain

France

Rest of Europe 

Asia-Pacific

China

India

Japan

South Korea

Rest of Asia-Pacific 

Rest of the World

Latin America 

Middle East & Africa


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