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Getting to a Genetic Diagnosis Quicker

December 4, 2020


It is harrowing for parents to suspect something is different about their child. It is a situation that becomes even more challenging if suspicions are not validated by an accurate diagnosis in a timely manner.

Getting to a Genetic Diagnosis Quicker

Many parents who suspect their child may be showing signs of autism, among other developmental and physical differences, learn quickly that the diagnostic process is problematic and often lengthy. Parents of young children are stressed to begin with. That stress can be magnified by worry about why their child’s development is delayed. It is an ordeal that can be confusing and costly, involving the time and expense of bringing the child to a clinician’s office multiple times with unsatisfying results.

When genetic testing is thrown into the equation, as it can be when additional symptoms such as intellectual disability, epilepsy, etc. are involved, it can add even more confusion and costly. Testing for genetic disorders that may manifest alongside symptoms of autism can be described as disjointed. Laboratories are still running tests developed 10 to 15 years ago, which can be a lifetime in science.

Doctors, of course, are trained to make a “best guess” in a diagnostic situation and then to eliminate other possibilities. This happens sequentially, and it’s possible for a patient to keep receiving negative test results. Then additional tests have to be ordered, and the merry-go-round can continue for years. It is a “diagnostic odyssey” that costs families emotionally and financially, running up to tens of thousands of dollars.

A new approach towards genetic testing

The good news is research is continuing to identify specific human genes and multiple variants that have a direct connection to a wide range of genetic disorders, including some that present with symptoms of autism. These findings hopefully will advance the acceptance of a new approach towards genetic testing, where a single genetic test ordered right off the bat would provide more useful diagnostic data regarding relevant genes and variants without having to run multiple tests. This testing method makes it easier on the patients and families facing the possibility of a genetic diagnosis. It provides a shorter wait until diagnosis and a good chance at implementing specific treatments earlier.

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The ability to drastically shorten a long, cumbersome, and costly process with a single sample and test is made possible through the use of whole genome sequencing combined with sophisticated software algorithms. When new genetic information is discovered pertaining to genetic conditions that present with symptoms of autism (and it is all the time), a clinician at the lab can make a new connection by reanalyzing the originally inconclusive data rather than by bringing the patient back in for a new sample.

It also removes a certain amount of pressure on family physicians or even specialists. No longer do they need to be a trained geneticist to know what combination of tests should be ordered, which can be a significant barrier to being able to get the complete picture for a patient.

It is hard enough on parents to wonder and worry about what happens next after learning their child’s autism and other symptoms are definitively caused by a genetic disorder, without that answer taking years. A much shorter path to obtaining genetic testing with insurance support is needed to lessen the burden on families and make these diagnoses more quickly.

Obtaining clarity on all genetic diseases through comprehensive analysis using sophisticated bioinformatics and data interpretation provides the ability to bring answers as a first line of defense rather than the end result of a long and drawn out process for families or individuals.

This article was featured in Issue 109 – Attaining Good Health.

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