Probably Genetic DNA Testing May Prevent Misdiagnosed Illnesses

I met Lukas Lange CEO of Probably Genetics thru Chronic Illness Bloggers. I did not test their product but want to write about the company since I feel strongly about how genetic testing can help improve the medical community.

There are diseases misdiagnosed every day or take years to diagnose. Genetic testing can shorten the timeline dramatically in determining if you have certain illnesses.

One important factor to consider when doing genetic testing is counseling a part of the service. Why is this so important? Genetic testing is a complex science and needs interpretation by an expert in genetics.

I had my DNA sequenced for family history knowledge and discovered I had several genetic markers for certain illnesses or higher risk for illnesses. This information doesn’t help without an expert spelling out what this means and what I can do with the data.

Probably Genetics provides genetic counseling with their testing services. Here’s a little more about the company. I also included a great post about Fibromyalgia and genetic testing below.

About Probably Genetic

Probably Genetic’s mission is to end the diagnostic odyssey. They have built what they believe is the fastest way to access clinical genetic testing anywhere in the US.

Genetic conditions are not always obvious and certain chronic illnesses may be caused by or have an underlying genetic component. Symptoms like chronic pain, severe fatigue, unexplained muscle or joint pain are common across several conditions. This is why rare genetic conditions can take years for doctors to diagnose.

Probably Genetic combines cutting-edge genetic science with software and technology to get fast, accurate results and shorten diagnostic times from 7 years to 8 weeks. Probably Genetic helps you get the appropriate care with physician-ordered tests and genetic counseling included in our service to help you make the best decisions for you and your family’s care. You can find out more about them here.

This excerpt is taken from the Probably Genetics Blog.

You can read the complete post at https://blog.probablygenetic.com/blogs/genetics-of-fibromyalgia

Is Fibromyalgia coded in your DNA?

  • There are many rare genetic conditions that look like fibromyalgia and it is often the case that patients with these conditions first get a fibromyalgia diagnosis.
  • There is substantial evidence that some fibromyalgia cases might have a genetic origin but the exact causes still remain unknown.

Introduction

Fibromyalgia is estimated to affect between 2% and 8% of the world’s population. To put that into perspective, the total number of potential people impacted by fibromyalgia could be nearly twice the population of the entire United States. Yet, for a condition that is so prevalent, its cause remains uncertain.

Fibromyalgia is mainly characterized by chronic, widespread pain across the body. Many fibromyalgia patients also suffer from a combination of other symptoms that impact sleep, energy levels, digestion, and even mental health. The complex symptom combinations and the significant overlap of these symptoms with many other conditions can make fibromyalgia incredibly challenging for doctors to diagnose.  

So how are genetics, or what’s in a person’s DNA related to fibromyalgia?
There are many rare genetic conditions that have symptoms which strongly overlap with fibromyalgia

Like fibromyalgia, rare genetic conditions are difficult to diagnose. This is why it takes on average 7 years after the onset of first symptoms for doctors to recognize the condition. Many rare genetic conditions have symptoms that look like those of fibromyalgia. For patients with these conditions, many will receive a fibromyalgia diagnosis first before doctors identify what they have.

For example, many people with Ehlers-Danlos syndrome (EDS) report having chronic widespread pain and chronic fatigue, classic symptoms of fibromyalgia. There are many different types of EDS, but some varieties are also characterized by symptoms such as thin or stretchy skin, or hyper-mobile joints (for example when a person can bend their elbow past 180 degrees). According to this research study: “[hyper-mobile] EDS may often be misdiagnosed as fibromyalgia because of diffuse pain, but they are considered as two distinct conditions”. Of course, it is entirely possible that a patient can have both fibromyalgia and EDS; however, having a complete picture what what a person has is crucial for helping them manage treatment.

In addition to EDS, Myotonic dystrophy type 2 (DM2), a genetic condition characterized by muscle pain, weakness and stiffness also has a strong symptomatic overlap with fibromyalgia. In a study conducted in 2008, doctors found that 3.2% of their cohort of patients with fibromyalgia tested positive for the genetic mutation that causes DM2. Their recommendation with regards to fibromyalgia was that “clinicians should be aware of overlap in the clinical presentation of these [two] distinct disorders”.

Other such genetic conditions where patients might initially be diagnosed with fibromyalgia include female carriers of Fragile X (see this study) and Myotonia Congenita (see here). The conditions mentioned here certainly do not represent a complete list. Furthermore, it’s important to understand that not all cases of fibromyalgia are related to an underlying rare genetic condition

A special thank you to Lukas Lange CEO of Probably Genetics for the opportunity to speak with him. http://www.probablygenetic.com

Melinda Sandor

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