Genetic Testing In Autism and Other Neurodevelopmental Disorders with Dr. Richard Boles

Genes are the blueprint, present at conception, that provide the instructions on how to build and operate our minds and bodies. We all have tens of thousands of genetic changes, called variants. Many have no effect, while others determine us to be unique individuals. Some of these variants act as risk factors for disease, either decreasing (resilience) or increasing (susceptibility) the chances of developing different disorders.

However, genes are not the only factor leading us to be the individual we are, and acting to decrease or increase the risk for disease. Environment is also critically important. Genes and environment act together in the development of health and disease, and act on each other. For example, environmental factors frequently affect the “expression” of genes, including when and where specific genes are activated. A partial list of environmental factors that act on genes includes physical and emotional trauma, infection, diet, exercise, drugs (both legal and illegal) and toxins.

Autism is not a single disorder, but a behaviorally-defined concept that can be caused by a variety of conditions that affect the brain. Autism is a highly genetic condition, in that genetics comprises most of the cause. There are thousands of genes implemented in autism, and different individuals have different genes that are involved in why that individual is affected. Despite this large, and highly varied, genetic component, environment is also a factor in terms of who will develop autism, and the degree of the disorder. However, manipulation of the environment frequently can play an important role in healing autism. As each individual has different genes involved in causing their disease, the number of environmental therapies (“treatments”) is large. The primary question is which treatments will most likely benefit a given individual patient. To answer this question best, one needs to identify the genes involved in that person’s disease. This is where genetic testing comes in.

The power and promise of genetic testing has improved dramatically in recent years, even over the last year or two, in terms of what it can offer families. Improvement can be in “core” autism areas (e.g. attention, language, behavior, anxiety, etc.) and/or outside the core (GI, fatigue, pain, depression, seizures, etc.). In many cases, the degree of improvement is remarkable, while in others it can be intermediate, subtle, or absent.

Live radio show interview with Dr. Richard Boles on Genetic Testing Options

In my live radio show interview with Dr. Richard Boles, we dive deep into the options for genetic testing, what to look for, and what those results can tell you. Please listen to the entire interview. It’s show #54. We discuss how genetic testing has dramatically improved in terms of what it can offer families, along with a substantial reduction in price, and what families should know about when they consider genetic testing.

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