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DON’T DO IT YOURSELF WHEN IT COMES TO INFERTILY/GENETIC TESTING

By Elena Trukhacheva MD, MSCI on January 23, 2019

“The Internet has provided patients with an immediate feedback loop, or at least the perception of one,” says Elena Trukhacheva MD, MSCI and the President and Medical Director for Reproductive Medicine Institute (www.reproductivemedicineinstitute.com), a Reproductive Endocrinology and Infertility practice with locations throughout the Chicagoland area.   “It has also, for better or worse, allowed patients to meet and communicate without leaving home.  While this can work in certain arenas, there are many that still require the face to face communication and ‘hands on’ approach afforded by such.  Medicine is one of those areas.”
 
Reproductive Medicine Institute, a Reproductive Endocrinology and Infertility (REI) practice, with locations throughout the Chicagoland area, offers comprehensive services for genetic testing.  This background gives clinicians such as Dr. Trukhacheva great hesitation and an unique perspective on the ‘do it yourself’ services marketed directly to consumers.   “First off, the online, do it yourself testing industry is limited in that you can only test an intended parent as a carrier of a mutation,” says Trukhacheva. “Even if you are a carrier, while there are actionable things that can be done to better monitor and protect your own health, in no way does this determine whether future offspring will be affected.  It is also very important to know the limitations of what is being tested.  Most diseases can be caused by any number of mutations or combinations thereof that could include hundreds or even thousands of possibilities.  Online testing generally looks at only a handful of the most common mutations which can provide incorrect information and a false sense of security.  This generally results in far more questions and concerns than answers, almost all of which need to be addressed by a medical professional ‘in real time’.”
 
While telemedicine appears to offer a simpler and faster means of dealing with basic needs particularly in the case of those who may not have the means or access to in person health care, it is generally not a substitute.  Particularly in more complex situations, such as the testing offered to determine and explain diseases and conditions with a genetic cause, quantitative results are in no way a substitute for qualitative discussion about what those results might mean.  Often times, patients are left with information/results that they cannot understand and no one to explain it to them.  
 
Trukhacheva attests that in many situations, high quality validated medical tests and required counseling might be actually cheaper than an online retail test. Rather than saving time and effort, this more often results in anxiety and a desperate need to connect with a medical professional who can make sense of the information and provide the next steps needed.
 
"I believe information is power but without the substantive knowledge and explanation, information is only one piece of a large puzzle,” says Dr. Trukhacheva.  “I believe the most empowering thing we can do as potential patients is to get the most comprehensive care available to us, complete with the guidance of a medical professional. When it comes to the Internet, let the Buyer Beware.”
 

 

 

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