Those disorders that affect fewer than 200,000 Americans are known as rare genetic disorders. 7,000 rare diseases are currently known. In the United States, they affect more than 30 million Americans. Some rare genetic disorders may be identifiable at birth. Others may manifest in later years.
Keep reading to learn how genomics testing can aid in diagnosing and managing rare genetic disorders.
Why Do Genetic Disorders Occur?
DNA is a molecule that carries instructions for the cells and biomolecules in our bodies. Various sections of DNA have specific roles to play. For example, exonsare parts of DNA responsible for instructions on how to make proteins. DNAs comprise genes that are packaged in structures called chromosomes. Chromosomes are located in cells. We all inherit half of our genes from each of our parents. Sometimes mutations within DNAs occur and lead to the development of a genetic disorder.
There are several types of genetic disorders. Chromosomal disorders occur when people have missing or duplicate chromosomes. Single-gene disorders occur from a single-gene mutation. Complex genetic disorders develop due to a combination of gene mutations and environmental factors.
Some examples of rare genetic disorders include:
- AA amyloidosis
- Aarskog Syndrome
- Ehlers-Danlos Syndrome
- Acoustic Neuroma
- Ablepharon-Macrostomia Syndrome
How Genomics Testing Can Help
Historically, doctors have been struggling to diagnose rare genetic disorders. One of the reasons is that the same mutation or mutations in the same gene can manifest in different ways. Also, since few people have rare genetic disorders, it is hard for scientists to collect enough information to pinpoint the exact mutations responsible for a disorder.
This is where next-generation sequencing comes in. One of its variations, whole genome sequencing, identifies the order of all the nucleotides in DNA. This enables scientists to create hypotheses about what combinations of mutations cause rare genetic disorders. This in turn is a stepping stone to making it easier to diagnose rare genetic disorders.
Genomics testing is a powerful tool that reveals the majority of the human genome. It is commonly ordered by doctors for people with complex medical histories.
Sometimes, genetic testing can also help individuals identify if they have a rare genetic disorder. This type of testing pinpoints any mutations with genes or chromosomes. Genetic testing comes in two types: single-gene testing and panel genetic testing. For example, Aarskog syndrome is associated with the FGD1 gene on the X chromosome, so it could be diagnosed with single-gene testing. To perform a genetic test, a researcher extracts DNA using a special kitand purifiesit.
Both genomics and genetic testing could be valuable tools for parents. Understanding the chances of children having rare genetic disorders could be an important step in family planning.
Rare genetic disorders currently have no cure. The scientific advances fueled by genomics testing hopefully could lead to discoveries that would help significantly improve the quality of life for people affected by them.
If you discover through genomics or genetic testing that you have a rare genetic disorder, there are resources and help available. Joining a support group and finding expert help are some of the essential steps toward coping with the diagnosis.
At ITSI-Biosciences, we stand by every single individual affected by a rare genetic disorder. Our aim is to empower doctors and researchers with our affordable genomics testing services. Contact us today!