Hereditary Testing Market Size, Share, Opportunities, And Trends By Disease Type (Hereditary Cancer Testing, Hereditary Non-Cancer Testing), By Technology (Cytogenetic, Biochemical, Molecular Testing), By End-User (Hospitals, Clinics, Others), And By Geography - Forecasts From 2023 To 2028

  • Published : Aug 2023
  • Report Code : KSI061616013
  • Pages : 145

The hereditary testing market was valued at US$1.15 billion in 2021.

Throughout the projection period, it is predicted that the hereditary testing market will grow quickly. Hereditary testing, which has many uses in medicine, changes the type of medical care received by patients. For instance, hereditary testing can diagnose a genetic disorder like Fragile X or reveal the risk of a patient contracting cancer. There are various types of hereditary testing. Genetic test results, which are obtained via a blood or spit sample, are frequently accessible in a few weeks. Since everyone in a family has the same DNA, if one member is found to have a genetic illness, that individual’s family members could also be affected.

Prospects for the hereditary testing market to expand

The rise in the frequency of genetic abnormalities is a major factor that has a direct influence on newborn screening awareness and hereditary testing market growth. For instance, according to the American Association for Clinical Chemistry, newborn screening programmes in the U.S. test newborns for more than 60 diseases. According to previously gathered illness prevalence and incidence statistics, the Department of Health and Human Services in the United States proposed a list of conditions for which screening for certain genetic diseases is required. This list is known as the proposed Uniform Screening Panel (RUSP).

High prevalence of cancer

The forecasted timeframe will see an increase in the prevalence of cancer worldwide as well as increased public knowledge of preventative diagnostics and individualised treatment. The list was produced using data on cancer incidence and death provided by the National Cancer Institute and other sources. The anticipated yearly incidence for 2023 has to be at least 40,000 cases for cancer to be included on the list of common cancers. Breast cancer is the most prevalent kind of cancer on the list, with 300,590 new cases anticipated in the US in 2023. Prostate cancer and lung cancer are the next most prevalent malignancies. Hereditary testing helps to provide information on the risk factors linked to the development of cancer in the future as well as if cancer runs in the family, which is fueling the hereditary testing market.

Rising utilization of pharmacogenomics testing

Clinical decision-makers increasingly rely on pharmacogenomics testing to help them choose the right drugs and prescribe the right dosage for their patients. The Association for Molecular Pathology (AMP) Pharmacogenomics (PGx) has published several publications that support the idea of adding clinical pharmacogenomics assays to create uniformity among labs. The organisation released the design and validation guidelines for clinical NUDT15 and TPMT genotyping assays in August 2022. The recommended alleles for TPMT and NUDT15 genotyping allow labs to screen patients for the possibility of thiopurine poisoning.

Increasing application of next-generation sequencing

The hereditary testing market surge is due to a boost in next-generation sequencing applications, healthcare spending, technical breakthroughs, and genomic mapping programmes. A growing number of genetic abnormalities and various cancer types are being identified and described using DNA sequencing technology. Unique DNA mutations are found by genetic profiling or testing using tumour DNA sequencing. The development of particularly tailored treatment programmes is facilitated by an understanding of genetic abnormalities. As a result, the need for hereditary testing in clinical as well as research settings is being driven by the growth in the prevalence of cancer and genetic illnesses.

Governmental projects are growing

Government-sponsored initiatives that are encouraging are predicted to further boost hereditary testing market development. For instance, the Netherlands' Ministry of Health, Welfare, and Sport stated that in March 2023 beginning on April 1, 2023, all pregnant women in the nation will be able to take the NIPT test. The hereditary testing market growth is anticipated to be greatly aided by this action. The National Comprehensive Cancer Network provides advice on how to handle both single-gene and multiple-gene panels as well as information on a variety of cancer risk factors.

Rising technological advancements

The recent increase in technical development has created several prospects for hereditary testing market growth. The growth in the prevalence of chronic diseases and the development of customised testing kits for specialised treatment sectors are contributing to the hereditary testing market rapid expansion. The increased R&D spending and the large hereditary testing industry presence of major corporations have created a high entry barrier for new entrants. To maintain a competitive advantage in the market, it is essential to innovate in product design, enhance quality, and form solid distribution relationships.

The European hereditary testing market is anticipated to grow

Europe is anticipated to have the greatest revenue share and is probably going to keep leading over the projected period. This may be ascribed to the existence of major businesses offering hereditary testing, the widespread use of cutting-edge therapies, and suggestions made by government organisations to guarantee the calibre of hereditary testing services. The approval and marketing of tests in the worldwide hereditary testing industry have been profoundly influenced by regional variations in regulatory frameworks relating to hereditary testing.

Growth strategies by key market players

Research and development in this hereditary testing industry have advanced tremendously as a result of a growing understanding of how genetic mutations contribute to illness. Key diagnostic developers, including Quest Diagnostics, have entered the hereditary testing market as a result of numerous retrospective investigations being conducted to understand the significance of inherited mutations in disease pathology. Governmental licencing and approval of hereditary testing on an ongoing basis are anticipated to fuel operating firms' organic revenue development. Additionally, the increased product portfolio is an indication of the hereditary testing market's increasing competitiveness. Every business is putting in a concentrated effort to provide products with a competitive advantage.

Market Key Developments

  • In February 2023, In India, MedGenome introduced their genetic test for detecting facioscapulohumeral muscular dystrophy.
  • In June 2022, Prenetic Group Limited introduced ColoClear which is a non-invasive at-home screening test used to identify colorectal cancer.
  • In March 2022, Illumina unveiled a cancer test which can detect multiple tumour genes in a single tissue sample, which can help assist patients in finding appropriate treatments.


  • By Disease Type
    • Hereditary Cancer Testing
    • Hereditary Non-Cancer Testing
  • By Technology
    • Cytogenetic
    • Biochemical
    • Molecular Testing
  • By End-User
    • Hospitals
    • Clinics
    • Others
  • By Geography
    • North America
      • United States
      • Canada
      • Mexico
    • South America
      • Brazil
      • Argentina
      • Others
    • Europe
      • United Kingdom
      • Germany
      • France
      • Spain
      • Others
    • Middle East and Africa
      • Saudi Arabia
      • UAE
      • Israel
      • Others
    • Asia Pacific
      • Japan
      • China
      • India
      • South Korea
      • Indonesia
      • Thailand
      • Others


1.1. Market Overview

1.2. Market Definition

1.3. Scope of the Study

1.4. Market Segmentation

1.5. Currency

1.6. Assumptions

1.7. Base, and Forecast Years Timeline


2.1. Research Data

2.2. Assumptions


3.1. Research Highlights


4.1. Market Drivers

4.2. Market Restraints

4.3. Porter’s Five Force Analysis

4.3.1. Bargaining Power of Suppliers

4.3.2. Bargaining Power of Buyers

4.3.3. Threat of New Entrants

4.3.4. Threat of Substitutes

4.3.5. Competitive Rivalry in the Industry

4.4. Industry Value Chain Analysis


5.1. Introduction

5.2. Hereditary Cancer Testing

5.3. Hereditary Non-Cancer Testing


6.1. Introduction

6.2. Cytogenetic

6.3. Biochemical

6.4. Molecular Testing


7.1. Introduction

7.2. Hospitals

7.3. Clinics

7.4. Others


8.1. Introduction

8.2. North America

8.2.1. United States

8.2.2. Canada

8.2.3. Mexico

8.3. South America

8.3.1. Brazil

8.3.2. Argentina

8.3.3. Others

8.4. Europe

8.4.1. United Kingdom

8.4.2. Germany

8.4.3. France

8.4.4. Spain

8.4.5. Others

8.5. The Middle East and Africa

8.5.1. Saudi Arabia

8.5.2. UAE

8.5.3. Israel

8.5.4. Others

8.6. Asia Pacific

8.6.1. Japan

8.6.2. China

8.6.3. India

8.6.4. South Korea

8.6.5. Indonesia

8.6.6. Thailand

8.6.7. Others


9.1. Major Players and Strategy Analysis

9.2. Market Share Analysis

9.3. Mergers, Acquisitions, Agreements, and Collaborations

9.4. Vendor Competitiveness Matrix


10.1. MedGenome

10.2. Myriad Genome

10.3. Mapmygenome

10.4. Invitae

10.5. Ambry Genetics

10.6. 23andMe

10.7. ARUP Laboratories

10.8. GeneDx

10.9. Criver

10.10. Medline Plus

10.11. Mayo Clinic


Myriad Genome



Ambry Genetics


ARUP Laboratories



Medline Plus

Mayo Clinic