Human Genetics Market Research Report—Global Forecast till 2030

Human Genetics Market: Information by Application (Wellness & E-Commerce, Preventive Medicine, Diagnostic & Treatment), by Test (NIPT, Carrier Testing, Pharmacogenomic Testing, Karyotype Testing, Thrombophilia Testing, Septin 9 Biomarker Testing, NGS, Others), and by Country (US, Canada, UK, Germany, Spain, Japan)—Forecast till 2030

ID: MRFR/HC/0243-CR | 169 Pages | Published By Kinjoll Dey on February 2022         

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Human Genetics Market

Human genetics market is expected to cross USD 60,821.20 million by 2030 at a CAGR of 10.80%

By Application Wellness & E-Commerce Preventive Medicine Diagnostic & Treatment
By Test NIPT Carrier Testing Pharmacogenomic Testing Karyotype Testing Thrombophilia Testing Septin 9 Biomarker Testing NGS Others
Key Players
Companies Profiled   Myriad Genetics (US)   Synlab Group (Germany)   Eurofins Megalab S.A (Spain)   Biomarker Technology (US)   Echevarne Laboratory (Spain)   Elabscience Biotechnology Inc (US)   NIMGenetics (Spain)   Sistemas Genómicos (Spain)   FullGenomics (Spain)   GENinCode (UK)   Atrys Health (Spain)
Market Driving Forces   Increasing number of patients with genetic diseases and increasing healthcare expenditure by major economies across the globe
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Human Genetics Market Forecast

The Human Genetics Market is expected to reach USD 60,821.20 million by 2030 at 10.80% CAGR during the forecast period 2022-2030. Human genetics is the study of the transmittance of genes through generations.  Modification in the genome may result in mutation, a small part of which may lead to the disease phenotype. Genetic diseases can be monogenic, multifactorial, and chromosomal are passed down from the parents to the progeny by different inheritance patterns, such as X-linked recessive, autosomal recessive, and autosomal dominant. Growing prevalence of epilepsy amongst the geriatric population act as major driver in the global human genetics market during 2021–2027. However, high cost of genetic testing hinders the growth of the global human genetics market during the forecast period. The growing use of genetic data across healthcare and technological advancement in genetic testing is expected to create an opportunity in the global human genetics market.

COVID-19 Analysis:

The pandemic has affected the business landscape for many organizations around the world. As a result of the pandemic, a number of countries-imposed import and export restrictions. This has also affected the healthcare industry as many countries are dependent on other countries for raw material supply, component supply, system supply, and technology, which particularly hit Spain as it imports the majority of its products. Raw materials required for genetic testing, such as reagents, consumables, and equipment, saw a shortage that hampered the market. Furthermore, in the initial phase of the pandemic, the supply chain of Personal Protective Equipment (PPE) has been completely disrupted kits which also impacted the market as patients and staff need to work in close proximity on a regular basis. However, as the restrictions are lifted as COVID-19 cases decreases, vaccines are made available in different parts of the world, and the trade restrictions are lifted, the supply chain should return to normalcy soon. 

Genetic diseases patients mostly rely on a genetic consultant or a genetic specialist for diagnosis & treatment of genetic disorders such as chromosomal abnormalities, Down syndrome, cystic fibrosis, muscular dystrophy, Huntington's disease, familial cancer & cancer-prone diseases, and others. Due to the COVID-19 restrictions and risk of getting infected by the virus, there was an extreme case of stress on these patients and health workers. With a disruption in clinical genetic counseling across Spain, Face-to-Face (FTF) visits in both primary and secondary care were canceled or limited.

The main target for the companies in this COVID-19 situation would be to provide services to the client base at a minimal price or at least with the same pricing for genetic testing services. This may come as a challenge for the market players as their costs are supposedly rising, especially due to the new talent acquisition they are doing to cope with the rise in demand. In addition, sanitization and hygiene practices in the office and extra benefits are given to the employees keeping in mind the pandemic situation, increasing the cost. Moreover, due to stricter lockdown measures, many genetic testing companies in Spain are offering home sample collection facilities, which further increases the overall cost of the test.

Market Dynamics:

Market Drivers

  • Growing adoption of genetic testing

A genetic test is a type of medical investigation that evaluates for mutations in genes, chromosomes, or proteins. A sample of blood, hair, skin, amniotic fluid, or other tissue is used to undertake genetic tests. Depending on the suspected disease, the sample is submitted to a laboratory where technicians examine for specific alterations in chromosomes, DNA, or proteins. The laboratory sends test results to a doctor or the patient directly if required. In addition, different types of tests are performed to diagnose genetic disorders such as predictive & pre-symptomatic testing, carrier testing, prenatal & neonatal testing, diagnostic testing, pharmacogenomic testing, and other genetic tests can help to determine whether a person has a genetic condition or is at risk of developing one in the future. It also contributes to a variety of aspects, like detecting a genetic condition, initiating treatment, implementing prevention measures, and making life decisions like career choice & family planning.

  • Increasing incidences of genetic diseases and cancer

Market Restraints

  • High cost of genetic testing

The high cost of genetic testing is adversely affecting the market growth in Spain. The genetic test normally costs between USD 100 and USD 2,000, depending on the complexity involved in the test. To get the desired result, more than one test is required, leading to a rise in the cost. Despite several advancements in genetic testing, there has not been a significant decrease in the cost. Furthermore, spending on genetic tests is often not recovered or only partly compensated by most insurance plans, resulting in growing unwillingness among consumers to opt for these tests.

Some genetic testing companies charge separately for sample collection and analysis, which further increases the overall cost of the test. Therefore, the high cost of genetic testing coupled with a lack of insurance cover is likely to hinder the market growth over the forecast duration.

Market Opportunities

  • Growing use of genetic data across healthcare and technological advancement in genetic testing

Genetic testing involves several kinds of tests, such as Noninvasive Prenatal Testing (NIPT), carrier testing, pharmacogenomic testing, karyotype testing, thrombophilia testing, predictive testing, ancestry & relationship testing, and others. These tests are gaining traction across Spain. To make an informed decision, data collected from these tests are being used to study the history of diseases. In addition, personalized data collected through genetic testing helps consumers in becoming more proactive about their health, which provides a lucrative opportunity for the growth of the market.

Global Human Genetics Market Share, by Application, 2020 (%)Global Human Genetics Market Share by Application 2020Source: MRFR Analysis

Value Chain Analysis/Technology Analysis/Regulatory Implications

 The global human genetics market is growing at a significant rate and is expected to continue growing at the same rate in the near future. This is due to the growing contribution of existing players to make the product available to the public, the growing adoption of genetic testing, and the increasing incidences of genetic diseases and cancer. The value chain analysis for the human genetics market comprises four major components: research and product development, manufacturing, distribution & sales, and post-sales monitoring.

In the research and product development stage, new techniques and research are undertaken to make the products better and unique. R&D is a brainstorming process and requires high knowledge and skills. The product development process starts with conceptualization, followed by the design of the product, then the development, and finally, the testing. The R&D team works on improving techniques that focus on customer needs.

In this stage, the product strategies are ready, and the manufacturing process of the product starts. The manufacturing process begins with the assembling of raw materials. Sourcing of raw material is the initial phase in manufacturing genetic tests or genetic testing consumables & products. This is a crucial part of the manufacturing of the products. Raw materials, including cryopreservation solutions, culture media, and other chemicals, are extensively utilized in manufacturing genetic tests or genetic testing consumables & products.

Distribution is an integral part of any industry. In the global human genetics market, the distribution includes intermediaries, direct selling, online channels, and others. For this, the company's marketing and sales strategies play a crucial role in understanding the characteristics of the industry in which one is competing. Many players sponsor seminars, knowledge sessions, and other activities, including checking for potential interactions and providing advice, each expected to guarantee the patient gets the awareness, full advantage, and value from the products.

Post-sales monitoring plays a vital role in this market. As the global human genetics market is competitive and patient-centric, post-sales monitoring is a necessary element of the process. Thus, post-sales monitoring and reviews are crucial to understanding the changing market and meet full customer satisfaction. Post-marketing monitoring involves monitoring the efficiency of genetic testing. Some companies perform different surveys to generate post-sale reviews to identify the positive and negative points of genetic testing.

Segment Overview

The global human genetics market has been divided based on application, test.

By Application

  • Wellness & E-Commerce

Health and wellness have gained a lot of recognition in consumer conscience in the era of customization, where consumers can personalize every aspect of their lives. Increasing demand for integrating personalization into medical, nutrition, & wellness services owing to the growing consumer shift from the traditional one-size-fits-all approach towards health, nutrition, & wellness, is aiding segment growth. In addition, increasing utilization of genetic testing for creating diet & fitness plans for consumers based on their genetic profiles and rising adoption of online channels for purchasing test reports owing to the convenience offered is further bolstering segment adoption.

  • Preventive Medicine

Healthcare is witnessing a significant transition from treatment to prevention owing to the rising awareness regarding genetic testing among consumers. Genetic screening is the future of preventative medicine in the primary care setting and is an important medical tool for assessing various inheritable diseases, conditions, and cancers. Increasing adoption of genetic testing is enabling healthcare providers to prevent the disease by diagnosing the patient before the onset of any symptom or by lessening the severity of symptoms, thereby promoting quality of life.

  • Diagnostic & Treatment

Genetic testing enables doctors to determine underlying genetic conditions, which, in turn, supports in providing better diagnostics and treatment. In addition, they are also utilized in confirming a diagnosis in a symptomatic individual or used to monitor the prognosis of a disease or response to treatment. For instance, predictive or predispositional genetic testing supports in identifying individuals that are at risk of getting a disease before the onset of symptoms. Technological advancements in assessing genetic conditions coupled with increasing consumer awareness and understanding of human genetics have enabled segment adoption.

By Test

On the basis of the test, the market is divided into NIPT, carrier testing, pharmacogenomic testing, karyotype testing, thrombophilia testing, septin 9 biomarker testing, NGS, others.

  • NIPT

Non-Invasive Prenatal Testing (NIPT) supports screening maternal plasma for fetal aneuploidies by using cell-free 'fetal' DNA (cffDNA) produced from placental apoptosis. In addition, it is also offered as an alternative to traditional invasive testing procedures (amniocentesis/chorionic villus sampling) for avoiding procedure-related miscarriage risks. High accuracy coupled with low false-positive rates offered by NIPT for detecting Trisomy 18, 13, and 21 have further revolutionized the prenatal screening landscape.

  • Carrier Testing

Carrier screening is a genetic test that determines whether a healthy individual is a carrier of a recessive genetic condition such as tay-sachs disease, cystic fibrosis, sickle cell disease, hemophilia, alpha-thalassemia, and fragile X syndrome. As per the data published by Cystic Fibrosis Foundation, more than 30,000 in the US and 70,000 worldwide children and adults are affected by CF. In addition, carrier testing also offers life-lasting information regarding an individual's reproductive risk and chances of having a child with a genetic disease.

  • Pharmacogenomic Testing

Pharmacogenetics, also known as pharmacogenomics, is the study of how genes influence the body's response to certain medicines and aims to improve medication safety and dosing by incorporating patients' genetic information into treatment decisions. Benefits offered by this testing, such as improving safety by lowering the occurrence of adverse drug reactions and improving the chances of therapeutic efficacy is bolstering the segment growth. The rise in the number of companies offering this testing is aiding segment growth.

  • Karyotype Testing

Karyotyping is a test that examines the chromosomes in a sample of cells to identify genetic abnormalities causing a disorder or disease. These tests are being performed for analyzing health disorders such as down syndrome, Edwards syndrome, Patau syndrome, Turner syndrome, and Klinefelter syndrome. Increasing utilization of these tests for checking an unborn baby for genetic disorders, diagnosing a genetic disease in a baby or young child, checking a stillborn baby to see if a chromosomal defect was the cause of death, identifying if a chromosomal defect is preventing a woman from getting pregnant or is causing miscarriages, and diagnosing or tailoring a treatment plan for certain types of cancer and blood disorders is bolstering segment growth.

  • Thrombophilia Testing

Thrombophilia is a multifactorial medical term that refers to a condition in which the blood has an elevated tendency to clot and is regarded hypercoagulable. This disorder, which might increase the risk of pathological thrombosis, can be hereditary, acquired, or a combination of both. Increasing adoption of Thrombophilia testing to gather evidence of inherited deficiencies of naturally occurring anticoagulants; Protein C, antithrombin & Protein S, and rise in government approvals regarding these testing procedures boost segment growth.

  • SEPT9 Biomarker Testing

Growing consumer awareness regarding genetic testing, lifestyle changes, increasing prevalence of cancer & other genetic disorders, and rising adoption of these tests for early disease detection & diagnosis is driving the segment growth. A sensitive blood-based CRC screening test based on the SEPT9 biomarker detects the majority of CRCs of all stages and colorectal sites. It can be administered to patients at average risk for CRC who are reluctant or unable to undergo colonoscopy.

  • NGS

Next Generation Sequencing (NGS) is a type of DNA sequencing technology that utilizes parallel sequencing of multiple small DNA fragments for determining sequence. This "high-throughput" technology has supported a significant rise in the speed (and a decrease in the cost) for sequencing an individual's genome. With the improvement and development of novel sequencing technology, NGS has been applied increasingly in cancer genomics research and clinical oncology to advance personalized cancer treatment.

  • Other

Other segments include newborn screening, diagnostic testing, preimplantation testing, forensic testing, and predictive & presymptomatic testing. Newborn screening is performed just after birth for identifying genetic disorders in babies that can be treated early in life. As per the data published by March of Dimes in July 2020, around 4 million babies are screened every year in the US Preimplantation Genetic Diagnosis (PGD), also known as preimplantation testing, is a specialized method that can lower the risk of conceiving a child with a specific genetic or chromosomal problem.

Global Human Genetics Market Share, by Region, 2020 (%)Global Human genetics Market Share By Region 2020Source: MRFR Analysis

Regional Analysis

The global human genetics market, based on region, has been divided into US, Canada, UK, Germany, Spain, Japan, Others.


The human genetics market in the US benefits from a high healthcare expenditure, increasing demand for genetic testing by the population, and high public awareness regarding early detection of diseases and preventive care. Moreover, the availability of reimbursements in the US for genetic tests further improves market growth in the country. For instance, in October 2019, United HealthCare Services, Inc. (US), the largest health insurance company in the US, started providing insurance coverage for multi-panel genetic testing.


Clinically directed genetic testing has been available for several decades in the NHS for predictive testing for family members and molecular genetic investigation of a clinical presentation. Genomic health data in the UK is generated in three major areas, including large-scale research programs, the healthcare system, and purchasing of direct-to-consumer genetic testing. Moreover, the rise in the number of initiatives undertaken by the public as well as private organizations is further aiding the market growth.


The rising prevalence of genetic disorders, cancer, increasing awareness and acceptance regarding personalized medicines, and growing focus on R&D activities contribute to the country's growth. As per the data published by Global Cancer Observatory in March 2021, cancer accounted for 628,516 new cases and 252,065 deaths in Germany in 2020. In addition, the government is implementing a number of favorable and collaborative policies to incorporate genetic testing into the healthcare system and provide insurance reimbursements to citizens, which, in turn, is driving the market growth.


DNA testing at home in Japan is gaining traction among the elderly population seeking answers regarding their health and disease risks. For instance, test kits offered by Genesis Healthcare and GeneLife are suitable for users aged 18 or older, especially the elderly population in the country who appreciates the convenience offered by these test kits in keeping tabs on their health. In addition, an increase in the number of strategic initiatives by market players is further driving the market growth in the country. For instance, in April 2021, Softbank led an investment of USD 1.2 billion in Invitae in the form of convertible debts.

Competitive Landscape

The key players operating in the global human genetics include Myriad Genetics (US), Synlab Group (Germany), Eurofins Megalab S.A (Spain), Biomarker Technology (US), Echevarne Laboratory (Spain), Elabscience Biotechnology Inc (US), NIMGenetics (Spain), Sistemas Genómicos (Spain), FullGenomics (Spain), GENinCode (UK), Atrys Health (Spain), Genyca (Spain), Igenomix (India), Genologica (Spain), Bode Technology Group Inc (US). The growing use of genetic data across healthcare and technological advancements in genetic testing will provide growth opportunities for the market in the future. However, the high cost of genetic testing and shortage of skilled and experienced genetic counselors might hamper the market's growth in the forecast period.

List of Key Companies Covered in this report:

  • Myriad Genetics (US)

  • Synlab Group (Germany)

  • Eurofins Megalab S.A (Spain)

  • Biomarker Technology (US)

  • Echevarne Laboratory (Spain)

  • Elabscience Biotechnology Inc (US)

  • NIMGenetics (Spain)

  • Sistemas Genómicos (Spain)

  • FullGenomics (Spain)

  • GENinCode (UK)

  • Atrys Health (Spain)

  • Genyca (Spain)

  • Igenomix (India)

  • Genologica (Spain)

  • Bode Technology Group Inc (US). 

Recent Developments

  • In October 2021, Igenomix launched a non-invasive prenatal genetic screening test-NACE. It is used for the detection of chromosomal abnormalities. This will help the company to bring a revolution in the Indian market and help expand its market.

  • In June 2021, GENinCode announced its partnership with Eversana as its launch and commercialization partner will help to access the US market for the GENinCode portfolio of polygenic cardiovascular disease products mainly focused on genetic risk.

  • In January 2019, Myriad Genetics and Illumina have developed a strategic partnership in the realm of oncology. The strategic connection between Myriad and Illumina includes a time-limited exclusive agreement for Illumina to deliver a kit-based version of the myChoice CDx test for overseas markets.

Report Overview:

The study covers the existing short-term and long-term market effects, helping decision-makers draft short-term and long-term plans for businesses by region. The report covers major regions in the US, Canada, UK, Germany, Spain, Japan, others. The report analyzes market drivers, restraints, opportunities, challenges, Porter's Five Forces, Value Chain, and impact of COVID-19 on the market.

Scope of the Report & Segmentation

Global Human Genetics Market, by Application

  • Wellness & E-Commerce

  • Preventive Medicine

  • Diagnostic & Treatment

    • Oncology

    • Cardiology

    • Assisted Reproduction

    • Neurology

      • Neuropediatric

      • Others

  • Gynecology

  • Others

Global Human Genetics Market, by Test

  • NIPT

  • Carrier Testing

  • Pharmacogenomic Testing

  • Thrombophilia Testing

  • Septin 9 Biomarker Testing

  • NGS

    • Oncology

    • Cardiology

    • Others

    • Others

Global Human Genetics Market, by Region

  • US

  • Canada

  • UK

  • Germany

  • Spain

  • Japan

  • Others

Report Scope:

Report Attribute/Metric Details
  Market Size   USD 60,821.20 million
  CAGR   10.80%
  Base Year   2021
  Forecast Period   2022-2030
  Historical Data   2020
  Forecast Units   Value (USD Million)
  Report Coverage   Revenue Forecast, Competitive Landscape, Growth Factors, and Trends
  Segments Covered   Application, Test, and Region
  Geographies Covered   US, Canada, UK, Germany, Spain, Japan, Others
  Key Vendors   Myriad Genetics (US) Synlab Group (Germany) Eurofins Megalab S.A (Spain) Biomarker Technology (US) Echevarne Laboratory (Spain) Elabscience Biotechnology Inc (US) NIMGenetics (Spain) Sistemas Genómicos (Spain) FullGenomics (Spain) GENinCode (UK) Atrys Health (Spain) Genyca (Spain) Igenomix (India) Genologica (Spain) Bode Technology Group Inc (US)
  Key Market Opportunities   â€¢ Growing use of genetic data across healthcare and technological advancement in genetic testing
  Key Market Drivers   â€¢ Growing adoption of genetic testing • Increasing incidences of genetic diseases and cancer

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Frequently Asked Questions (FAQ) :

An expanding number of patients suffering from genetic diseases, capital spending, increased public awareness, and a growing demand for personalised and accurate drug are anticipated to be the primary drivers of the Human Genetics Market during the forecast timeframe, according to industry analysts.

The Asia Pacific region is predicted to account for the largest proportion of the global human genetics market.