Rare Diseases: What Makes Them Rare and What Testing Is Available

In recent years, there has been an increase in community awareness surrounding rare diseases. This has been aided in part by the increasing popularity of Rare Disease Day, which occurs annually on the last day in February. The goal with Rare Disease Day is to raise awareness to the general public and amongst decision-makers about rare diseases and the impact these diseases have on people’s lives.

Individually, these rare diseases, as the name suggests, are rare. Collectively, rare diseases are common. Statistics show that approximately 1 in 20 people in the U.S. will be affected by a rare disease at some point in their lives.

What is a Rare Disease?

What classifies a disease as a rare disease? Scientists cannot seem to agree on a definition. In parts of Asia, a rare disease is one that affects about 1 in 2,500 people or less. In Europe, a rare disease is one that affects about 1 in 2,000 people. In the U.S., a disease is classified as rare if it affects 1 in 1,500 people or less.

With the population of the U.S. being over 328 million people, some rare diseases may affect hundreds or even thousands of people. Other rare diseases, however, are so rare there may only be a handful of affected people in the country. This means there could be up to 30 million people in the U.S. living with a rare disease.

Some common rare diseases Baylor Genetics tests for include Duchenne muscular dystrophy, Huntington’s disease, cystic fibrosis, Down syndrome, and Fragile X.

Why Study Rare Diseases?

So far, there have been over 6,000 different rare diseases identified. But what is the point of studying diseases if they are so rare? Talking about and studying rare diseases helps raise awareness, and this in turn can encourage law makers and researchers to work with people and families with rare diseases to improve the quality of their lives.

To put it into perspective, about 1 in 4 rare diseases are due to environmental factors or as the result of viral or bacterial infection. Over 70% of rare diseases are genetic, which are caused by harmful variations in a person’s genetic makeup. Some of these genetic rare diseases begin in childhood.

Genetic Tests for Rare Diseases

Many people live with various symptoms of a rare disease, but never has the disease diagnosed. Obtaining a diagnosis can bring associated advantages, such as tailored management options, access to various treatments, additional medication options, and inclusion in clinical trials or research.

The most common genetic test used to diagnose rare diseases is whole exome sequencing (WES).

Whole Exome Sequencing

To give some background on Baylor Genetics’ WES test, one must understand the fundamentals of an exome. The total of someone’s genetic material is called the genome. Everyone’s genomes are made up of coding regions of DNA called exons and non-coding regions of DNA called introns. When you remove all of the intronic information from the genome, you are left with what is called the exome.

Scientists in the lab can test the exome for harmful genetic variations and this is what is referred to as whole exome sequencing. Although this test is relatively new in the clinical setting, BG has been offering WES for over 10 years. With a detection rate of up to 41%, BG’s WES is one of the best in the industry.

For more information about WES, visit: https://baylorgenetics.com/whole-exome-sequencing/

For more information about Rare Disease Day, visit: https://www.rarediseaseday.org/

Why Baylor Genetics?

Improving healthcare is at the core of who we are at BG. Through continuous innovation and research, our team is equipped to provide physicians the best results for their patients. We are able to diagnose rare diseases and disorders because of our existing large-scale, high-throughput capabilities and our CLIA-certified, CAP–accredited laboratory.

To learn more about our genetic tests, visit: https://baylorgenetics.com/

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