Breakthroughs in DIY Genetic Testing

Over the past decade, advances in genetic testing have allowed us to self-administer various DNA tests such paternity tests, in the privacy of our own homes. Due to extensive research and development, new breakthroughs in Next Generation DNA Sequencing, or NGS, have driven the federal government to fast track do-it-yourself testing products for the general public.  

This past February, the US Food and Drug Administration (FDA) approved marketing for direct to consumer genetic testing for Bloom Syndrome, an inherited disorder most common among those of Ashkenazi Jewish descent. The rare disease causes short stature and a predisposition to cancers along with other health issues. The test, available through 23andMe, will provide for an at-home,  self- administered test to check for a genetic factor that, if present in both parents means their children will inherit the disorder. This revolutionary decision by the FDA paves the way for the widespread use of DIY genetic testing for other diseases.

If you like to dabble in Genealogy, the study of your ancestry, the same company offers at-home testing to determine your ancestral origins from your DNA. Easy to use instructions on how to administer the test, and prepaid, return packaging are included in your kit. You will be given access to a secure data base to view the results, which will tell you what percentage of your DNA comes from specific parts of the world such as; East Asia, Africa or Europe, and it will further pinpoint your DNA to a specific region, such as Italy or England. Additional information is available for people with mixed ancestry such as Latinos and Native Americans.  

This spring, scientists confirmed that they have established proof that a 44 year old man died after being infected with a deadly, drug resistant form of tuberculosis by a health care worker, when both were admitted to the same medical ward four years before the man died. The potential breakthrough in tracking infection patterns will enable researchers and scientists to better understand the spread of disease so that it can be controlled and eventually eradicated. Law enforcement investigations will be given a tremendous boost in the next several years, as scientists, using a tiny speck of a suspects blood, have created an externally visible, DNA “photofit” of a suspects characteristics including their age, height, ancestry, as well as eye and hair color. This exciting technology can potentially help solve “witness-less” crimes and allow for faster and more accurate investigations.

Almost all biological research depends on the deciphering of our DNA. Despite past hype over NGS, investors are flocking to companies involved in NGS research and development, with market growth expected to explode into a $27 billion dollar industry by the year 2022.


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