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Can Genetic Testing Save Your Life?

Escrito por Marjorie DeHey el 12/06/2018 a las 08:19:42

(Co-founder of MediaMojos)


Marjorie DeHey

Over the past 5 years, the technology behind genetic testing has so greatly improved that tests can now indicate whether or not your genetic code holds the likelihood for certain diseases.  According to Research and Markets’ recent report, the global genetic testing market is growing so rapidly that it is forecast to become a $9.3 billion (USD) industry by 2023, almost doubling its current market of $5.06 billion (USD) in 2018.


Currently, the market is segmented into 3 categories of testing - cytogenetic testing (detects chromosome abnormalities), biochemical testing (detects proteins to determine changes in DNA), and molecular testing (identifies mutations in single genes or short strands of DNA).  While these tests can uncover the predilection for certain diseases, current genetic tests can’t test for such diseases as cancer directly, but, they can indicate if you may develop cancer as they look for certain genetic mutations that can trigger the disease.  However, many cancers develop without the discovery of so-called "cancer genes." For example, two gene variants that have been linked with breast cancer (BRCA1 and BRCA2) are involved in only 5% of breast cancer cases, so testing accuracy still needs to be improved. 



(Image of a Biochip – Courtesy of Wikipedia)


At this time, genetic testing is available to uncover the potential for such diseases as Cancer (some forms, predisposition only), Cystic Fibrosis, Down syndrome, Huntington's Disease, Muscular Dystrophy and numerous others. Leaders in the field of DNA “predisposition” testing include Abbot, Precipio Inc., Ariosa Diagnostic Inc., and Sequenom Inc.  Companies such as DNA 23 and AncestryDNA, market genetic testing to uncover people’s progenitors’ traits, providing some insight into biological predispositions.


What is particularly fascinating about current genetic testing is the emergence of a new technology called Biochips, also called DNA arrays or microarrays. Biochips are a breakthrough that may speed and simplify genetic testing.  Each small glass slide (or “chip”) contains rows and rows of DNA probes and test for the presence of specific DNA sequences or mutations. If these are present in test results, then specific spots on the Biochip will glow.  Biochips are the future of genetic testing as a Biochip can test for thousands of mutations or “aberrations” at once.


In the future, Biochips will allow for genetic ID cards – think a “credit card” with all of your genetic information embedded.  Doctors could use this “easily-accessible” genetic information to better tailor your medical treatments to you, choosing a customized treatment for your condition based on that knowledge. The opportunities for truly curated medicine and the potential for increased health and longevity on a truly individualized basis make genetic testing technologies good stock bets for the future. 


However, the commercialization of genetic DNA tests has given rise to privacy concerns over the misuse of such information.  The recent high-profile case of the Golden State Killer, in California, is an example of how that information can be used to aid in solving crimes.  In this situation, the police were able to find a “cold case” serial killer by using information from a DNA testing company’s database to match DNA, leading to an arrest (based on the discovery that the killer had a rare genetic mutation found in only 2.3% of Caucasians in that database).  This case made consumers aware that the police can use information from these consumer DNA companies in criminal investigations.  The police in this case, however, say that it is rare to use such sites, as the genotyping technology police use for their criminal DNA system (CODIS) is very different from consumer sites.  However, this case raised many issues in terms of privacy rights and made some consumers leery of openly exploring or sharing their genetic information.


Overall, genetic testing technology will become more specific and will help to detect more diseases earlier and earlier detection saves lives, and in some cases, catches a criminal.