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With more than 500 laboratories offering more than 75,000 different genetic tests, it is nearly impossible to navigate the DNA testing landscape in the US. While there are numerous mainstream tests on the market offering to find your long lost relatives, optimize your exercise plans and vitamin regimens, or help you explore your taste in wine, there are a few that can have a real impact on your health and wellness.
Since as early as 2013, the American College of Medical Genetics has recommended the use of genetic testing as a first-line tool for understanding the cause of Autism. For the past 6 years, recommendations focused on a technology called a chromosomal microarray (CMA), which detects regions of the DNA that are either duplicated or deleted; however, this type of test completely misses out on many types of mutations that are known to be associated with autism. In fact, in a new paper from the Boston Children’s Hospital and Harvard School of Medicine, researchers are now recommending a different type of genetic test, called whole-exome sequencing (WES), to be the new first-tier diagnostic for children with neurodevelopmental disorders as it significantly outperforms a CMA in terms of the percentage of people that obtain a diagnosis. This is why Probably Genetic focuses on offering affordable and accessible whole-exome sequencing.
Despite the many reputable bodies recommending genetic testing for all children with an autism diagnosis, fewer than 1 in 3 children with autism are offered genetic testing by their doctor. For this reason, we tried to outline some of the main concerns parents have before testing their children. Much of the information below comes from the peer-reviewed research from North Carolina presented here.
Of all of the factors that make parents think twice about getting genetic testing for themselves or their children, test cost was the main concern. In fact, 73.3% of parents indicated that the cost would be the primary barrier. Parents suggested that caring for a child with autism is already an expensive endeavor and adding additional expenses is often not financially feasible.
At the moment, Probably Genetic is offering their tests “at cost” so that you can be guaranteed to have the lowest price possible for a clinical-grade genetic test. Affordability and accessibility are two of the values we instill in our patient-centric service. Early treatment is often key for success and it is our aim to make sure that cost is not a barrier.
37.8% of parents worry that the test will be invasive and may cause psychological harm. The parents suggested that many of their children were afraid of needles or getting their blood drawn and this may be an inhibiting factor to going through with the test.
Making it easy for parents and children to take the test is one of our primary goals. With advances in genetic testing, invasive procedures and collecting blood is no longer required. Rather, all the DNA we need to accurately check for a potential underlying cause of autism can be extracted for your child’s saliva. They can either spit in a tube or soon we will offer another option of a cheek swab.
“Since as early as 2013, the American College of Medical Genetics has recommended the use of genetic testing as a first-line tool for understanding the cause of Autism.”
The anxiety of receiving medical test results is often something parents struggle to deal with. 33.3% of parents suggested that they worry about receiving a positive result, that receiving a positive result may cause finger-pointing as to who is to blame, or that the time-span between when the DNA sample is collected and the test results are received can be long and difficult to deal with.
Parent anxiety is often an unavoidable part of medical testing. However, we have partnered with one of the fastest DNA sequencing labs and have set strict goals for how fast to get you your results while maintaining the highest possible accuracy. We understand that the wait can be difficult and we keep this in mind for every test that we offer. Furthermore, understanding positive results can be difficult which is why every parent that receives such a result gets genetic counseling as part of our service. These counselors are healthcare professionals specifically trained to help you better understand the results and establish next steps.
13.3% of parents say that transportation and scheduling issues, or having to pull their child out of school make it difficult to bring them in for testing.
Probably Genetic allows you to take your test at home, thus avoiding unnecessary doctor appointments at inconvenient times. You should be able to take such a test at your convenience, not when it is convenient for someone else.
11.1% of parents worry about the lack of information about genetic testing.
Probably Genetic makes it easy to talk to a genetics expert for free. Our staff has years of experience in this space. We have PhDs from or enrolled in the top universities in the world, including the University of Oxford and the University of Cambridge, and we are happy to talk to you at any time via phone, Skype, or email. Just let us know!
Over 100,000 patients have created a profile with Probably Genetic to confirm their eligibility for our free genetic testing and counseling programs.