GVR Report cover Hereditary Testing Market Size, Share & Trends Report

Hereditary Testing Market Size, Share & Trends Analysis Report By Disease Type (Hereditary Cancer Testing, Hereditary Non-cancer Testing), By Region (North America, Europe, APAC, LATAM, MEA), And Segment Forecasts, 2020 - 2026

  • Published Date: Feb, 2020
  • Base Year for Estimate: 2019
  • Report ID: GVR-4-68038-999-9
  • Format: Electronic (PDF)
  • Historical Data: 2016 - 2018
  • Number of Pages: 276

Report Overview

The global hereditary testing market size was valued at USD 5.8 billion in 2019 and is projected to register at a CAGR of 6.3% during the forecast period. The expanding reproductive genetic health space is one of the key market drivers. Key players, such as Natera, have reported a continuous increase in test volumes in women’s health genetic testing for inherited conditions. This reflects the growing acceptance of hereditary tests among the population, thereby accelerating revenue growth.

U.K. hereditary testing market size

Furthermore, a consistent rise in demand for newborn screening has led to an increase in sales of DNA testing kits. For instance, in November 2019, the Division of Consolidated Laboratory Services (DCLS) of the Virginia Department of General Services screened 7,868 newborns for nearly 31 hereditary and metabolic disorders. Increasing penetration of newborn screening across the globe is further aiding in revenue growth.

Reforms in genetic testing guidelines have led to inclusion of multigene panel testing for hereditary cancer into clinical practice. The National Comprehensive Cancer Network (NCCN) Clinical Practice Guidelines in Oncology (NCCN Guidelines) for breast, ovarian, and colorectal cancers offers information on some of the cancer risk factors and management recommendations for single and multiple gene panels.

Gradual developments in the distribution model is likely to benefit the genetic testing market. Technology providers are playing a crucial role in market growth by improving their distribution service and increasing the efficiency of technology. Companies are using a cloud-based distribution model to make bioinformatics technology available for use by other laboratories. As of March 2019, around 14 licensees were using Constellation software commercially for the marketing of Non-invasive Prenatal Testing (NIPT) products.

Although these hereditary tests have huge advantages over conventional tests, several industry experts cited the cost and security concerns faced by consumers pertaining to the test. Moreover, the lack of effective regulation of the tests is another key area that demands focused efforts. Despite these challenges, the genetic testing market is constantly expanding owing to the advantages of these innovative tests along with improved healthcare outcomes.

Disease Type Insights

Product and service offerings with regard to various hereditary cancer testing continue to expand. Entry of major players, such as Quest, in this segment in the recent past, has significantly driven the hereditary testing market. Considering breast cancer genetic testing as a lucrative source of revenue, companies are focusing on business strategies to enhance their presence in this segment.

One of the strategies is offering hereditary tests at a price lower than that offered by competitors. For instance, Color Genomics began selling its product for USD 259, whereas similar products offered by Myriad cost around USD 4,000. The increasing affordability of the tests is one of the key drivers of this segment. Furthermore, BRCA1 carriers have an 80% risk of developing breast cancer, which has also accelerated the developments in hereditary cancer testing market.

Global hereditary testing market share

On the other hand, lung cancer is one of the major cancer forms that has a relatively few number of products. This is because most cases of lung cancer are not related to inherited genetic mutations. Similarly, for cervical cancer, most of the cases are caused by Human Papilloma Virus (HPV) and not genetic mutations. Lack of effective evidence over heritability of cervical cancer are driving the research activities in this market.

Prenatal testing, irrespective of the associated risks, is increasingly gaining popularity. The cell-free DNA (cfDNA)-based NIPT testing is considered medically necessary by Anthem Blue Cross and Blue Shield of California. Previously, these players promoted cfDNA-based NIPT testing for trisomy’s 21, 18, and 13 only in high-risk pregnancies, as determined by maternal age and other factors.

Regional Insights

Variations in regulatory frameworks pertaining to genetic tests across the world have significantly impacted the approval and commercialization of tests in the global market. Currently, a wide variety of genetic tests are being provided by several key companies in the U.S. as well as several countries in Europe, Asia Pacific, and other regions.

Europe accounted for the largest share in terms of revenue in 2019 and is likely to continue its dominance during the forecast period. This can be attributed to the presence of key players providing genetic tests, high adoption of advanced treatments, and recommendations provided by government agencies to ensure the quality of hereditary testing services.

In September 2019, Blueprint Genetics, a Finnish company, partnered with ARCHIMEDlife, a rare disease diagnostics company, to provide biochemical testing for rare diseases in North America. Through this partnership, both firms planned to diversify their range of genetic disease testing services to serve the customers better. Such initiatives are expected to strengthen the genetic testing scenario for hereditary disorders in North America, thereby accelerating regional revenue generation.

Hereditary Testing Market Share Insights

Understanding the role of genetic mutation in disease occurrence has significantly accelerated the R&D in this market. Various retrospective studies are being carried out to understand the role of inherited mutations in disease pathology, which has led to key diagnostic developers, such as Quest Diagnostics, enter the market. Continuous authorizations and approvals of genetic tests by the government is expected to propel the organic revenue growth of operating companies.

Some of the key players engaged in offering services and products in this market are Myriad Genetics, Inc.; Invitae Corporation; Illumina, Inc.; Natera, Inc.; Laboratory Corporation of America Holdings; F. Hoffmann-La Roche Ltd; Quest Diagnostics Incorporated; CooperSurgical, Inc.; Agilent Technologies, Inc.; Thermo Fisher Scientific, Inc.; Twist Bioscience; Sophia Genetics; Fulgent Genetic, Inc.; Medgenome; and CENTOGENE N.V.

Furthermore, the expanding product portfolio is indicative of growing competition in the market. Each company is making focused efforts to offer products with a competitive advantage. For example, cross-selling efforts by Natera helped the company witness lucrative revenue generation over the past years. The company promotes collective use of Horizon and Panorama products for women who have not undergone carrier screening tests in their first trimester.

Hereditary Testing Market Report Scope

Report Attribute


Market size value in 2020

USD 6.2 billion

Revenue forecast in 2026

USD 8.9 billion

Growth Rate

CAGR of 6.3% from 2020 to 2026

Base year for estimation


Historical data

2015 - 2018

Forecast period

2020 - 2026

Quantitative units

Revenue in USD Million and CAGR from 2020 to 2026

Report coverage

Revenue forecast; company share; competitive landscape; growth factors and trends

Segments covered

Disease type, region

Regional scope

North America; Europe; Asia Pacific; Latin America; MEA

Country scope

U.S.; Canada; Germany; U.K.; France; Spain; Italy; Netherlands; China; Japan; India; South Korea; Singapore; Australia; South East Asia; Brazil; South Africa

Key companies profiled

Myriad Genetics, Inc.; Invitae Corporation; Illumina, Inc.; Natera, Inc.; Laboratory Corporation of America Holdings; F. Hoffmann-La Roche Ltd; Quest Diagnostics Incorporated; CooperSurgical, Inc.; Agilent Technologies, Inc.; Thermo Fisher Scientific, Inc.

Customization scope

Free report customization (equivalent up to 8 analysts working days) with purchase. Addition or alteration to country; regional & segment scope.

Pricing and purchase options

Avail customized purchase options to meet your exact research needs. Explore purchase options

Covered in the Report

This report forecasts revenue growth at global, regional, and country levels and provides an analysis of the latest industry trends in each of the sub-segments from 2015 to 2026. For the purpose of this study, Grand View Research has segmented the global hereditary testing market report on the basis of disease type and region:

  • Disease Type Outlook (Revenue, USD Million, 2015 - 2026)

    • Hereditary Cancer Testing

      • Lung Cancer

      • Breast Cancer

      • Colorectal Cancer

      • Cervical Cancer

      • Ovarian Cancer

      • Prostate Cancer

      • Stomach/Gastric Cancer

      • Melanoma

      • Sarcoma

      • Uterine Cancer

      • Pancreatic Cancer

      • Others

    • Hereditary Non-cancer Testing

      • Genetic Tests

        • Cardiac Diseases

        • Rare Diseases

        • Other Diseases

      • Newborn Genetic Screening

      • Preimplantation Genetic Diagnosis & Screening

      • Non-invasive Prenatal Testing (NIPT) & Carrier Screening Tests

  • Regional Outlook (Revenue, USD Million, 2015 - 2026)

    • North America

      • The U.S.

      • Canada

    • Europe

      • The U.K.

      • Germany

      • France

      • Spain

      • Italy

      • Netherlands

    • Asia Pacific

      • China

      • Japan

      • India

      • South Korea

      • Australia

      • Singapore

      • South-East Asia

    • Latin America

      • Brazil

    • Middle East & Africa

      • South Africa

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