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U.S. Genetic Testing Market Size, Share & COVID-19 Impact Analysis, By Technique (PCR, DNA Sequencing, Microarrays, and Others), By Application (Cardiology, Oncology, Pharmacogenomics, Cognitive Dysfunction, Pathogenomics, and Others), By Payer (Public Health Insurance, Private Health Insurance, and Out-of-Pocket), By End-User (Hospitals, and Independent Laboratories) & Forecast, 2020-2027

Last Updated: May 06, 2024 | Format: PDF | Report ID: FBI105034



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The U.S. genetic testing market size was USD 4.11 billion in 2019. The impact of COVID-19 has been unprecedented and staggering, with genetic testing witnessing a negative impact on demand amid the pandemic. Based on our analysis, the market exhibited a lower growth of 6.7% in 2020 as compared to the average year-on-year growth during 2016-2019. The market is projected to grow from USD 4.38 billion in 2020 to USD 10.29 billion in 2027 at a CAGR of 13.0% during the 2020-2027 period. The rise in CAGR is attributable to this market’s demand and growth, returning to pre-pandemic levels once the pandemic is over.

Based on diagnostics in modern healthcare, genetic testing possesses a greater degree of technological superiority, which ensures its reliability, and accuracy. Furthermore, the adoption is anticipated to witness a strong surge as the testing application areas widen across the healthcare sector. In the current scenario, it covers chronic ailments such as cardiovascular conditions, along with cancer to other genetic diseases. In the U.S. particularly, which has a strong healthcare expenditure, an increasing proportion of the populace is opting for such testing procedures. A greater need for early and preventive care, coupled with increased awareness, is likely to propel the industry growth in the forthcoming years.

Cancellation of Non-Essential Diagnostics Amid COVID-19 to Exert an Adverse Impact

The results have been mixed in terms of the nature of the healthcare system in the United States amid the COVID-19 pandemic. While some segments in the healthcare industry witnessed a strong positive impact, the other segments witnessed pronounced negative impacts. The cause of these negative impacts includes a nationwide lockdown imposed in the various states of the U.S that restricts the movement of the people. This has further led to a sharp decline in hospital and clinic visits for non-essential or non-critical diagnostic procedures. Hence, several elective genetic testing procedures, such as the cancer screening panels or the testing for hereditary diseases, have either been postponed or canceled. A significant disruption in the availability of hospitals or independent laboratories for sample analysis is expected to exert a negative impact.


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Favorable Reimbursement Policies to Augment Growth

One of the most critical trends in the U.S. genetic testing market is the significant and consistent increase in the insurance coverage of genetic tests for various types by major insurance companies. Several insurance companies are extending their insurance coverage to test the efficacy of psychiatric drugs. Psychiatric drugs are known to be hard to match the symptoms of the patient. This has led numerous patients using psychiatric drugs to resort to a trial and error system in a bid to determine which medication suits them efficiently. For instance, UnitedHealthcare, the largest insurer in the U.S., began extending insurance coverage for the genetic tests from October 1, 2019, for over 27 million individual and group plans. This decision regarding insurance coverage is expected to lead other insurance companies to further extend coverage for the tests to maintain competitiveness in the marketplace.

These favorable reimbursement trends have numerous benefits. These include a significant reduction in the prolonged search for healthcare professionals for the optimal treatment procedures and enable the insurance companies to reduce expenditure on ineffective drugs. Such trends are expected to significantly contribute to market growth.


Strong Demand for Early and Preventive Care to Aid Growth

One of the critical drivers for the U.S. genetic testing market growth is the strong demand for early and preventive care. The growing economic burden for the treatment of diseases is leading to a stronger focus of healthcare providers and governing bodies towards the early diagnosis and screening for health risks. According to the Centers for Disease Control and Prevention (CDC), chronic diseases such as cardiovascular in the U.S. healthcare system account for an estimated USD 320 billion annually, in direct and indirect costs.

Genetic tests are increasingly used for the detection or prevention of serious diseases and medical problems before they become more life-threatening. Hence, these tests have become a vital part of preventive care as a majority of the private healthcare payers have included these tests in the reimbursement policies. Furthermore, many individuals are opting for these testing procedures for rare genetic disorders. Therefore, the increasing coverage and favorable reimbursement policies for preventative genetic testing are expected to drive the growth of the market during the forecast period.

Increased and Improved Awareness to Drive Growth

Another important factor that is expected to lead to the growth of the market is the increased and developing awareness amongst various healthcare professionals regarding the efficacy of these diagnostics. This is particularly relevant as genetic and genomic testing are experiencing an expansion across several medical specialties and have witnessed strong testing volume being ordered and managed by non-geneticists.

This increasing pattern of greater awareness amongst healthcare professionals, especially doctors and physicians towards these diagnostics, is further expected to strongly boost the testing volumes across several medical specialties. Furthermore, the increasing awareness regarding various technological advancements is expected to further improve testing accuracy.


Data Privacy Concerns to Hamper Growth

Despite the numerous advantages of these procedures such as the ability to opt for early and preventive treatment, conduct genetic tests at the convenience of one’s homecare setting, etc., some factors are hindering the market growth. One of the most critical growth restraining factors for the market is the concern and scrutiny regarding the privacy of the patient’s genetic data such as DNA information. This is particularly critical as a significant proportion of the genetic testing clients lose discretion and control over their genetic material and the associated information obtained from that genetic material derived from testing procedures. Such factors are expected to limit the adoption of these diagnostics in the U.S., thus, restraining the market growth during the forecast period.

Report Scope & Segmentation

U.S. Genetic Testing Market Report Scope

Report Coverage


Forecast Period:

2020 to 2027

Forecast Period 2020 to 2027 CAGR:


2027 Value Projection:

USD 10.29 Billion

Base Year:


Market Size in 2019:

USD 4.11 Billion

Historical Data for:

2016 to 2018

No. of Pages:


Tables, Charts & Figures:


Segments covered:

Technique, Application and End User

Growth Drivers:

Strong Demand for Early and Preventive Care to Aid Growth

Increased and Improved Awareness to Drive Growth

Pitfalls & Challenges:

Data Privacy Concerns to Hamper Growth


By Technique Analysis

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DNA Sequencing Segment to Grow at Faster Pace

Based on type, the market can be segmented into PCR, DNA sequencing, microarrays, and others.

The DNA sequencing segment is estimated to be the largest segment during the forecast period. The dominance of this segment is attributed to the high adoption of this technique in genetic tests. Moreover, the technological superiority associated with this technique such as faster turnaround times, and the recent trend of decreasing costs of next-generation sequencing (NGS) will drive the segmental growth.

The polymerase chain reaction (PCR) segment is expected to account for the second-largest position owing to the presence of a large number of genetic tests that are based upon this technique.

The microarrays segment is projected to register a comparatively higher CAGR in the foreseeable years. This is attributed to the increasing usage of this technique in the detection of mutation in genes which is an important component of oncology genetic testing.

The others segment is anticipated to lose a significant proportion of the market share due to the increasing transition of genetic tests towards the usage of advanced techniques such as next-generation sequencing, and protein and DNA microarrays.

By Application Analysis

Oncology Segment Dominated the Market in 2019

The application segment can be segmented into cardiology, oncology, pharmacogenomics, cognitive dysfunction, pathogenomics, and others.

The oncology segment is projected to account for the highest share in the market during the forecast period. The launch of new and technologically advanced oncology genetic tests by key players such as Myriad Genetics and Ambry Genetics is expected to contribute to the segment’s dominance.

The pharmacogenomics segment is expected to hold the second position during the forecast period owing to the increasing number of product launches, coupled with favorable reimbursement policies.

The cardiology segment is anticipated to gain considerable growth due to the strong and consistent increase in the prevalence of cardiovascular diseases in the U.S.

The cognitive dysfunction segment is expected to account as an important segment due to the increasing demand for these diagnostics due to the higher prevalence of diseases such as Parkinson’s and Alzheimer’s.

The pathogenomics segment is anticipated to account for a lower proportion of the market share during the forecast period due to the comparative lesser adoption of these products during the forecast period.

By Payer Analysis

Private Health Insurance to Register Highest CAGR

Based on the payer, the market is segmented into public health insurance, private health insurance, and out-of-pocket.

The private health insurance segment is projected to register the highest share in the market. The dominance is attributable to the strong dependence of the U.S. populace on private health insurance due to the Affordable Care Act (ACA).

The public health insurance segment is expected to hold the second position during the forecast period, as a substantial patient population base is still dependent on this as a source of reimbursement.

The out-of-pocket segment is expected to account for a lower market share due to the relatively lesser usage of out-of-pocket as a source of payment.

By End-User Analysis

Independent Laboratories to Be the Largest Segment during the Forecast Period

Based on end-user, the market can be segmented into hospitals and independent laboratories.

The independent laboratories segment is projected to account for the highest share in the market during the forecast period. The reason for the stronger growth is the collaborations and partnerships of independent laboratories with the key genetic testing companies.

The hospitals segment is expected to account for a lower market share due to the relatively lesser demand of these end-user settings for these diagnostics.


Technologically Advanced Testing Portfolio of Quest Diagnostics and Myriad Genetics to Help Them Dominate Market

In terms of the competitive scenario, the landscape depicts the presence of established and emerging players. Quest Diagnostics and Myriad Genetics were the two companies that led the market in 2019. These two companies accounted for a dominant revenue share.

Quest Diagnostics dominates the market owing to its comprehensive genetic testing portfolio comprising diverse application areas such as autoimmune diseases, various diseases, and cardiovascular conditions. Myriad Genetics is projected to be the second-largest company in terms of the market revenue share owing to the presence of technologically advanced products. Some of the prominent product offerings of Myriad Genetics include MyRisk and EndoPredict.

Other companies such as Invitae Corporation, Ambry Genetics, and BioReference Laboratories are striving to maintain their position backed by novel product offerings across a wide range of applications such as oncology and cardiology. Furthermore, robust R&D initiatives due to strong investment activities are expected to lead to the emergence of new players in this market during the forecast period.


  • Invitae Corporation (San Francisco, U.S.)

  • Ambry Genetics (Aliso Viejo, U.S.)

  • BioReference Laboratories, Inc. (Elmwood Park, U.S.)

  • Progenity, Inc. (San Diego, U.S.)

  • Quest Diagnostics Incorporated (Secaucus, U.S.)

  • Myriad Genetics, Inc. (Salt Lake City, U.S.)

  • Fulgent Genetics (Temple City, U.S.)

  • Burning Rock Biotech Limited (Guangzhou, China)


  • April 2021 – Invitae Corporation announced that their sponsored genetic testing is available for patients at risk of developing some common adult neurodegenerative conditions in the region of U.S., Canada, Australia and Brazil. This availability of this program will be free of cost and will help at-risk individuals having difficult to diagnose conditions

  • April 2021 – Invitae Corporation announced that they will join the eMERGE network, a national effort organized and funded by National Genome Research Institute. As a part of this partnership Invitae will provide genetic testing for all the 25,000 patients.

  • March 2021 – GI OnDEMAND announced a partnership with Ambry Genetics to integrate the online genetic counseling and testing services into their nationwide gastroenterology practices. The partnership was made to identify hereditary GI cancer syndromes to guide through potentially life altering healthcare decisions.


An Infographic Representation of U.S. Genetic Testing Market

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The U.S. genetic testing market research report provides a detailed analysis of the market and focuses on key aspects. The report offers a detailed overview on regulatory overview, funding raised by start-up companies, key industry developments such as mergers, acquisitions, and partnerships, porter’s five forces analysis, SWOT analysis, the impact of COVID-19 pandemic on the market. It further offers insights into the personalized medicine market size (USD billion), U.S., 2019, and reimbursement scenario. Besides this, the report offers insights into the key market trends and highlights key industry dynamics. In addition to the aforementioned factors, it encompasses several factors that have contributed to the growth of the market over recent years.


By Technique

  • PCR

  • DNA Sequencing

  • Microarrays

  • Others

By Application

  • Cardiology

  • Oncology

  • Pharmacogenomics

  • Cognitive Dysfunction

  • Pathogenomics

  • Others

By Payer

  • Public Health Insurance

  • Private Health Insurance

  • Out-of-Pocket

By End-User

  • Hospitals

  • Independent Laboratories

Frequently Asked Questions

Fortune Business Insights says that the market size was USD 4.11 Billion in 2019 and is projected to reach USD 10.29 Billion by 2027.

In 2019, the market stood at USD 4.11 Billion

Registering a CAGR of 13.0%, the market will exhibit steady growth in the forecast period (2020-2027).

The DNA sequencing segment is expected to lead this market during the forecast period.

The increasing demand for these diagnostics, product advancement and robust demand for early and preventive healthcare are major factors driving the growth of the market.

Quest Diagnostics and Myriad Genetics are the major players in this market.

The growing demand for preventive care and personalized medicine, and new product launches, coupled with newer application areas, are expected to drive the adoption.

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