Genetic Sequencing: an Innovative Method of Confirming your CrowdMed Diagnosis

What is Genetic Sequencing?

Imagine that your body has an instruction manual. It would be millions of pages long, delegating everything from the color of your eyes to the shape of your toenails. Now imagine that there was a single typo somewhere in those millions of pages. It is this typo, or mutation, that causes disease. Genetic sequencing is a computerized method of locating that mutation.

There are two types of genetic sequencing:

  • Whole genome sequencing analyzes all of a patients genes. It costs more but produces more information for research.
  • Exome sequencing analyzes the small portion of your genes where most mutations occur.

Contrary to what you might believe, genetic sequencing is not simply a matter of scanning your body and printing the results. It is actually a precise, six-month-long project that occurs in several steps:

  1. A physician submits the request for genetic sequencing.
  2. The physician will obtain DNA samples from the patient in the form of blood or saliva.
  3. The patient’s parents also provide DNA samples.
  4. An analyst scans the sample into a computer.
  5. A camera photographs the DNA, producing a readable image.
  6. Analysts compare the patient’s DNA to that of her parents and the general population. They look for unique anomalies which can indicate a mutation. This comparison also reveals whether the mutation is inherited or de novo, which means that it is occurring for the first time in that family member.
  7. If medical science has discovered which disease is associated with the mutation, analysts can then identify the disease. Medical science understands only a few of the mutations so far, but that number is always increasing.

Why Do I need Genetic Sequencing?

Every day, thousands of people visit doctors offices and emergency rooms across the nation. At that point, the healthcare process is generally very straightforward. The doctor examines the patient and asks a series of relevant questions. The physician may also order a few tests. These efforts usually produce a diagnosis. But what if the tests aren’t enough? What if the doctor can’t pinpoint the cause? What then?

More and more physicians are turning to genetic sequencing as they attempt to crack their toughest cases. Sometimes, the usual battery of tests are futile. Sometimes, even the most sought-after specialists are stumped. And it can drag on for years.

How Can I Get Genetic Sequencing?

First, your doctor must submit a request for genetic sequencing. From there, the patient needs at least six months of health insurance or several thousand dollars to cover the costs. If your doctor has already requested it, organizations like Rare Genomics Institute and Global Genes can also help patients with the sequencing process. They can even connect you with research studies or programs that can help cover the costs.

A Hopeful Future

The future of genetic sequencing is bright. As the technology advances, it will become cheaper, faster, and more effective than ever before. As more patients gain access to their instruction manuals, medical science will learn more about the human body than we ever thought possible. The future of diagnostics has arrived, and it is only getting better – one gene at a time.

Resources

Sanfilippo, A., & Lin, J. (2014). Rare diseases: Diagnosis, therapies, and hope. (pp. 6-148). St. Louis: Rare Genomics Institute. Retrieved from http://raregenomics.org/wp-content/uploads/2014/06/Rare-Diseases-Book-Diagnosis-Therapies-and-Hope-V5-310.pdf

 

Published by

Deanna Brownlee

Deanna Brownlee

My name is Deanna Brownlee, and I have an undiagnosed disease. For 10 years, my unidentified illness has yielded only futility and heartbreak. As much as it has stolen from me, however, writing has always remained by my side. I am truly honored to be part of the CrowdMed team.