Why,Genetic,Testing,Making,New marketing Why Is Genetic Testing Making News?

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What is Genetic testing?                                                                        Genetic testing is a medical test that is done to check for mutations (changes) in the chromosome or DNA of the patient. This test can not only be used for determining a child’s parentage or a person’s ancestry but it also has important medical relevance in predicting and diagnosing disorders that can help provide better treatment.Types of Genetic Testing:There are about 2000 genetic tests that are currently available. They can be broadly classified into the following types:Prenatal Testing: This test is done on the fetus before birth. It is done in cases where the parents or the families have a history of genetic disorder[s]. It can also be used to identify conditions like Down’s syndrome.Newborn Screening : As the name suggests, this test is done just after birth to identify genetic disorders that can be treated in the early stages of life. It is done within 48 hours of birth where the blood from the child is collected by a simple heel prick. Disorders like Phenylkenonuria are routinely tested for, where the lack of a single enzyme causes the accumulation of metabolites that causes mental disorders. But by identifying the disorder early, the child can be put on a special diet which can circumvent the adverse effects.Diagnostic Screening: This test is usually done as a confirmatory test when a certain disorder is predicted and patient is already exhibiting the symptoms.Carrier Screening: It identifies people carrying a single copy of the mutated gene. The disease presents itself when there are two copies of the mutated gene. This test helps couples predict the risk of the child inheriting the disorder. Usually done when there is a history of genetic disorders in the family like Cystic Fibrosis.Predictive Screening: This test is done in the later stages of life to predict the risk of developing a disorder before the symptoms present themselves. Usually done to identify the mutations that increase the risk of causing Cancer, when there is a family history. For example, a mutation in the BRCA1 increases the risk of developing breast cancer; where as mutations in both BRCA 1 and BRCA2 increase the risk of both breast and ovarian cancer.What has changed all of a sudden?What has changed is the increased awareness among people of the possibility of predicting the risks of developing diseases like cancer and hence preventing them. Genetic testing started making News in when the Hollywood actress Angelina Jolie publicly disclosed her increased risk of developing cancer by 87% due to the mutation in the BRCA1gene and her decision to get both her breasts removed. More recently in 2015, she spoke of her similar decision to remove her ovaries as the mutation in the same gene increases the risk of ovarian cancer to 50%. Recent research reports have revealed that about 19% of women carry the mutated copies of the BRCA 1 and BRCA 2 gene thereby increasing the risk of developing cancer. The genetic tests are currently available only to women with a family history of cancer, but there is another study that reveals that only 10% of the women with breast cancer had a family history so the test should be made available to all women irrespective of a family history of cancer or not.Risks of knowing your futureThough everyone wants an insight into his or her medical future to make wise decisions in taking medical help or taking an insurance policy, there are many risks that come with it. Having taken a genetic test, you become obligated to disclose your test results to the insurance company in order to assess risk thus increasing the premium of your policy. A popular jargon that has popped up is ‘Genetic discrimination’ that is denying a job or service on the basis of one’s genetic test results. There are no laws that protect you from having to disclose your test results.How does the Genetic testing market look?Myraid Genetics, Utah, USA was the only company that did genetic testing for breast cancer at $4000 for one of its most expensive test, but now other companies like EasyDNA, 23andMe and Quest Diagnostics who provide cheaper versions of the test ($200 to $400) that are also in a direct-to-customer format where the test can be taken in the privacy of one’s home. Start-ups like Colour are ready to invest in further automation to slash the prices further to make them more affordable for women of all economic strata.Technologies like Next generation sequencing (NGS) have the potential to make genetic testing a more reliable and faster test as all the genes can be sequenced at once rather than the traditional methods that require the sequencing of large number of fragments of DNA for identifying one change (mutation).  It is also useful in diagnosis when multiple gene mutations are involved in a single cancer. Better diagnosis ensures better treatment. It is definitely the right time to invest in Genetic testing, both in companies like Roche and Life technologies who make DNA sequencing machines that make genetic testing possible and in companies like 23andMe, Colour and many others who produce the kits. Some private investors like Laurene Powell Jobs (widow of Apple founder Steve Jobs) and Neil Woodford are investing heavily in it.