The genetic makeup of an individual is highly characteristic of the person and every biological response is ultimately guided by the genes possessed by the individual through protein expression.
Genes expressed in the form of proteins act by regulating the processes of transcription and translation proteins then regulate biochemical pathways by selectively binding, inhibiting, or denaturing certain biomolecules.
Genetic testing, involving tests performed on the DNA (and RNA) samples collected from patients, can therefore give scientists and medical professionals vital clues to how a individual may develop diseases, and can also provide the clues to treating disease on an individual basis.
Known therefore as predictive tests, genetic tests can assess the risk of onset of a specific disease based on the mutated genetic code even before the disease is symptomatic.
The tests are done to detect predisposition to a disease, detect genetic carriers of a disease, to screen newborns and guide clinical management.
Genetic testing is used to formulate personalized treatment solutions for patients by genetically assessing the patient’s response profile towards specific drugs, and then manipulating the drugs in such a way that it gives better effects for the patient. Genetic testing is also used for pre-symptomatic screening for diseases in adulthood, pre-natal testing and pre-implantation testing.
A sample of genetic material for tests can be obtained from blood or other body tissue and is prepared by extraction of genetic material from the collected cell sample. The extracted genetic material can then be artificially amplified further using the polymerase chain reaction (PCR) technique.
This amplification gives multiple quantities of the original extracted sample, which allows for multiple tests to be run for the sample.
Dividing up genetic tests
Based on European Diagnostic Manufacturers Association (EDMA) classification, the genetic testing market is classified into three segments – inborn gene or inborn chromosome alteration, acquired gene or acquired chromosome alteration, and other genetic tests.
Inborn gene alterations or inborn chromosome alterations assess the alterations which are inherited or are present in a child at the time of birth.
The alterations may pertain to monogenetic, polygenetic or chromosomal disorders. Polymorphism is also detected using these tests. These genotypical alterations may have late onset in terms of phenotypical changes. Diseases such as Huntington’s disease become symptomatic only in adulthood.
Acquired gene alteration or acquired chromosome alterations-related tests assess the risk associated with mutation caused during the lifetime of an individual.
These characteristically pertain to detection of cancer-related mutations which are incorporated in the genome during the lifetime of an individual due to various environmental factors.
Other genetic tests include tests for detecting the onset of diseases apart from cancer, such as chromosomal abnormalities, or monogenetic, polygenetic and polymorphic conditions based on genetic differences.
It also includes tests designed to assist in identifying the response profile of an individual towards a specific stimulus like drug dose. This specific branch of genetic testing is called pharmaco-genomics, which assesses the response profile of patients to drug treatment based on the patient’s genotype. This helps in designing a treatment methodology which is customized for the patient and thus gives maximum benefit to them.
The genetic testing market is expected to grow
The global market for genetic testing, valued at $800m in 2009, is forecast to reach $1.2 billion by 2016, with a compound annual growth rate (CAGR) of 7%.
The inborn gene or chromosome alterations market segment is expected to be the highest revenue contributor during this period.
The global genetic testing market is expected to be driven by the increasing availability of tests covering a wide range of disease areas expanding the pool of potential consumers.
Expected market growth in emerging economies is also expected to drive the growth in the genetic testing market.
The US is the largest market for genetic testing
In 2009, the US was the largest geographic market for genetic testing, contributing about 40% of the global market share. The US genetic testing market is expected to reach $485m by 2016, growing at a CAGR of 6% over the next seven years.
The inborn gene or chromosome alterations market segment is the major revenue generator for the market in the US. The availability of direct-to-consumer tests is expected to drive the growth of the US genetic testing market in the future.
High growth potential in emerging economies and increasing availability of tests expected to drive genetic testing market in future
The growth of the genetic testing market in emerging economies is expected to be higher than the global average. China’s genetic testing market is expected to grow at a CAGR of 16% and India’s is expected to grow at a CAGR of 10%, while the global average CAGR for the market is expected to be 7% for 2009–2016.
High birth rates in these countries are expected to drive prenatal testing in genetic testing market, leading to high growth potential. The availability of centres to conduct these genetic tests is expected to positively affect market growth.
The number of tests available for genetic testing has increased significantly in last two decades; along with an increase in the disease areas covered using the tests.
In 1995, genetic testing covered 300 disease areas, which increased to more than 1900 in 2009. Along with an increase in the availability of tests, the number of laboratories available to conduct the tests is also rising in the US. This is expected to increase the end-consumer pool.
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