U.S. Hereditary Genetic Testing Market Overview

The U.S. hereditary genetic testing market was valued at $7.57 billion in 2021 and is expected to grow with a CAGR of 13.09% and reach $29.28 billion by 2032. The growth in the U.S. hereditary genetic testing market is expected to be driven by growing demand for early and preventive care and increasing prevalence and associated disease burden related to various cancer, among others.

Market Lifecycle Stage

The U.S. hereditary genetic testing market appears to be highly dynamic at the moment, with companies focusing on the adoption of advanced technologies in order to cater to the demand of processing large data as well as efforts to make genetic testing reach a larger population.

Market Segmentation

Segment 1: by Product

  1. Services
  2. Kits
  3. Consumables
  4. Others


Among the product segment, the services segment in the U.S. hereditary genetic testing market occupies the largest share of the market and is expected to dominate in the coming years as well. This is because companies are actively providing services to hereditary testing laboratories in addition to providing genetic testing kits and consumables.

Segment 2: by Sample

  1.  Blood
  2. Saliva
  3. Tumor Tissue
  4.  Bone Marrow
  5. Other Sample Types


Among the sample segment, blood samples are majorly used for conducting hereditary genetic testing in the U.S.

Segment 3: by Application Area

  1. Clinical Diagnostics
  2. Academics and Research
  3. Drug Discovery
  4. Monitoring and Screening


Among application area, all the four sub-segments constitute an almost equal share in the U.S. hereditary genetic testing market. However, drug discovery currently occupies a relatively major share, and the share of academics and research is expected to increase in the coming years.

Recent Developments in the U.S. Hereditary Genetic Testing Market

  • On 3 October 2022, Laboratory Corporation of America Holdings concluded the transactions, establishing a long-term laboratory connection with Ascension. This partnership with Ascension boosts access to Laboratory Corporation of America Holdings’ clinical laboratory services, analytics, and laboratory network for the Ascension-served communities, eventually enhancing productivity and healthcare services.
  • On 29 September 2022, Illumina, Inc. announced the launch of the NovaSeq X Series (NovaSeq X and NovaSeq X Plus), the new production-scale sequencers. These production-scale sequencers are designed to enable faster, more powerful, and more sustainable sequencing. With the aid of this technology, the company aims to lead advancing genomic research and clinical understanding, ultimately improving patient lives.
  • On 14 September 2022, Qiagen, N.V. entered into a partnership with Neuron23 in order to provide a companion diagnosis for Neuron23’s brain penetrant leucine-rich repeat kinase (LRRK2) inhibitor for Parkinson’s disease.


Demand Drivers and Restraints

Following are the demand drivers identified for the U.S. hereditary genetic testing market

  • Growing Demand for Early and Preventive Care
  • Increasing Number of New Cases of Cancer Indications and Associated Disease Burden
  • Increasing Technological Advancement Resulting in Improved Outcome
  • Rising Prevalence of Genetic Disorders



The U.S. hereditary genetic testing market is expected to face some challenges due to the following reasons

  • Hesitation Among Patients Toward Genetic Testing
  • High Capital Requirement Hampering the Expansion
  • Lack of Accurate Risk Assessment in Neuromuscular Disorders


How can this report add value to an organization?
Product/Innovation Strategy: The report highlights the approaches being considered for making the test reach a larger population. The companies are incorporating data analytics and various software applications that can help them in fetching a more accurate result from a large genome data bank available to the company. The report also provides an epidemiology forecast of selected cancer indications across different regions of the U.S., which again helps in assessing the expected market opportunity for hereditary genetic testing.

Growth/Marketing Strategy: The several growth strategies identified in the report include increased focus toward technological advancement in making the tests more accurate as well as quick, making the tests more accessible to a broader population either by reducing the price or by getting them approved for reimbursement.

Competitive Strategy: The report provides insight into the existing competition in the U.S. hereditary genetic testing market. The leading players, along with their contributions and market shares, have been identified and profiled in the report. Moreover, a detailed competitive benchmarking of the players operating in the U.S. hereditary genetic testing market has been included to help the reader understand how players stand against each other, presenting a clear market landscape. The report also highlights the key activities the companies were engaged in in the last three years. This will additionally help in evaluating the dynamics of the market with respect to growth and sustainability in the business.

Key Market Players and Competition Synopsis

The companies that are profiled have been selected based on inputs gathered from primary experts and analyzing company coverage, product portfolio, and market penetration.

The U.S. hereditary genetic testing market in 2021 was dominated by the following key players with a total market share of 51.45%:

  1. Laboratory Corporation of America Holdings
  2. Quest Diagnostics Incorporated
  3. F. Hoffmann-La Roche Ltd.


The following companies had a total market share of over 25% in 2021 and were highly active in the U.S. hereditary genetic testing market:

  1. BGI
  2. Illumina, Inc.
  3. Eurofins Scientific SE
  4. Myriad Genetics, Inc.
  5. Natera, Inc.