Report Overview

The global genetic disease diagnostics market was pegged at US$ 5.97 billion in 2021 and is expected to witness a CAGR of 9.0% during the forecast period.

Market Fundamentals

A genetic disorder is a condition that is entirely or partially driven by deviation from typical DNA sequence. A combination of environmental factors, gene mutations, and chromosomal damage can all result in genetic diseases. Diagnostic procedures for genetic diseases have fundamental objective of locating and identifying particular genetic agent responsible for the disease in order to determine its cause and allow medical experts to provide a patient with the most appropriate care. These tests can also assist in resolving genetic issues when they are at early stages. 

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Market Dynamics

Rising popularity of genetic testing as a result of the many advantages it provides, including the ability to identify genetic problems at an early stage of pregnancy (between 8 and 10 weeks). It also aids in figuring out the fetus gender. Due to growing awareness and scientific advancements, the market for genetic testing is expanding rapidly.  However, the challenge for global genetic disease diagnostics market include uncertainty in diagnosis or prognosis, as well as medical complexity and poor health outcomes. 

Market Ecosystem

The global genetic disease diagnostics market has been analyzed from four perspectives: type, technology, application, and region.

Genetic Disease Diagnostics Market by Type

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Based on test types, the global market for genetic disease diagnostics is segmented into predictive & presymptomatic testing, prenatal & newborn testing, carrier testing, diagnostic testing, pharmacogenomic testing and others. The parenteral & newborn testing segment has dominated the global market. Prenatal screening tests are performed during pregnancy to determine the risk of having specific birth abnormalities. The majority of noninvasive examinations are carried out in first or second trimester. The screening can reveal information regarding the potential presence of the diseases. If the screening results are favorable, additional confirmatory diagnostic testing is conducted. Other segments are also anticipated to grow during the forecast period such as pharmacogenomic testing. Pharmacogenetic testing, is referred as pharmacogenomics, which involves examining a person's genetic makeup to determine how their body responds to certain medications. The testing provides information regarding drugs that might not function or cause undesirable side effects. The tests are able to predict which medications and dosages would be effective for the patient.

Genetic Disease Diagnostics Market by Technology

Based on technology, the global genetic disease diagnostics market is segmented into biochemical testing, cytogenic testing, molecular testing and others. The molecular testing segment has dominated the market due to the rising need for molecular testing in the diagnosis of serious diseases contributes to the. Additionally, this test can disclose any DNA alterations, such as gains and losses, that are not picked up by standard chromosomal analysis.  The cytogenic testing is also expected to show lucrative growth in the forecast period due to benefits provided by this test.  Congenital disorders, hematologic malignancies, and solid organ cancers are some situations for which cytogenetic testing is recommended. After a biochemical screening or abnormal results from an ultrasound, it can be done during pregnancy. Additionally, these tests are taken by couples who have experienced numerous miscarriages or who have significant pedigree analysis results. The postnatal diagnosis of patients with mosaicism, intellectual disability, autism, or developmental delays involves cytogenetic testing.

Genetic Disease Diagnostics Market by Application

Genetic disease diagnostics market is segmented into genetic disease diagnosis, cancer diagnosis, cardiovascular disease diagnosis and other applications. According to ASCCO (American Society Of Clinical Oncology), genetic diagnostics for cancer is recommended in situations when the cause of cancer is inheritance, and if the test detects some irregularities in karyotype. As an increased rise is seen for cardiovascular diseases cases many new diagnosis practices, treatments and medications have come into action. For instance, cardio genomics profiles are tests that aims to identify genetic variations that may be of a higher risk of disease and forecast. The purpose of this test is to get an estimate about acquiring cardiovascular diseases, or more particularly, suffering a heart attack or stroke, is being estimated by cardio genomic profiles. 

Genetic Disease Diagnostics by Region 

Geographically, the global genetic disease diagnostics has been segmented into North America, Europe, Asia Pacific, and the rest of the world. North America dominated the global market for genetic disease diagnosis, and it is anticipated that it will continue during the projected period. This is due to increased awareness of the advantages offered by genetic testing among consumers. Additionally, the widespread adoption of genetic testing kits in the general population for purposes such as identifying ancestry has been aided by the simple accessibility of self-testing kits through online websites in countries such as the U.S.  The market is this region has grown tremendously due to the rising prevalence of numerous chronic diseases among the majority of the population and the rising consumer spending on healthcare. The most potential market, on the other hand, is anticipated to be in Asia Pacific throughout the forecast period. Asia Pacific is distinguished by its enormous population, increased incidence of chronic diseases, and rising public awareness of genetic testing. It is anticipated that rising healthcare costs and growing disposable incomes would further fuel market expansion.

Competitive Landscape

Some of the prominent players operating in the global genetic disease diagnostics market are 

• Abbott Laboratories Inc.
• Bio-Rad Laboratories, Inc. 
• CSL Ltd. 
• Danaher Corporation 
• Eurofins Scientific
• F. Hoffman-LA Roche Ltd. 
• Illumina, Inc. 
• Qiagen N.V.
• Thermofisher Scientific, Inc.
• Myriad Genetics, Inc. 
• Luminex Corporation 
• Biomereiux SA
• Labcorp Corporation 
• deCODE genetics, Inc. 
• BGI Group, Inc. 

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