Neurology Genetics ?Diagnose Genetic Disorders

Posted by alvina on November 27th, 2018

Whatever actions our body does including thinking, moving, breathing, feeling and speaking are controlled by complex biological pathways of which our nervous system is made of. Neurological disorders like epilepsy, Parkinson’s disease, dementia and nerve pain (neuropathy) have symptoms that can disturb the patient’s everyday life. But some patients have neurological symptoms that remain unexplained for years and therefore their diagnosis and treatment cannot be done on time.

It has been suspected that several neurological disorders have genetic causes. How to verify that has been the question. Genetic testing for neurological disorders provides new, more precise methods to identify genetic changes that cause neurological disorders. Equipped with this knowledge, physicians can provide targeted treatments for their disorder.

Three Types of DNA Testing

It’s important and useful to know about the various types of neuro testing available. As explained by Tatiana Faroud, Ph.D. and Christopher Klein, M.D. in their paper published in the Mayo Clinic Proceedings February 2017 issue, there are three methods to recognize connections to disorders:

1. Targeted panel testing that inspects a select group of genes linked to the disease usually testing 50 to 300 genes

2. Whole exome sequencing that inspects just a small portion of the entire genome but comprises of all genes that have been seen to have a link to the diseases

3. Whole genome sequencing that is the detailed DNA analysis till date and inspects a patient’s full genetic makeup of 3 billion genes

Which among these tests to use is based on the number of genes responsible for a particular disease.

Targeted Panel Testing

As per the authors of the paper, targeted panel testing can be used for disorders caused by more than one kind of genetic changes. This method has been successful in diagnosing inherited neurological disorders such as myopathy, neuropathy, epilepsy syndromes, and motor neuron disease.

Whole Genome or Whole Exome Sequencing

Using broader genomic testing methods have their own benefits to diagnose particular neurological disorders. As recommended by the authors, this type of test should be used to discover disorders with unknown origins. E.g. these methods can diagnose disorders that have not been diagnosed with traditional clinical testing or for patients with autism or developmental delays.

As per the authors, effective use of neurology genetics can be done with collaborations of clinicians, bioinformatics experts and laboratory geneticists to choose right genetic tests, interpret results accurately and to use the data to guide patients for care.