Rare Inherited Diseases are to be Spotted by Blood Tests Looking at a Patients' Whole Genome

 

    British researchers report that the detection of rare genetic conditions can be improved by whole genome sequencing of blood samples.  These mitochondrial disorders are affected and found in about 1 in every 4,300 people, causing incurable diseases.  Mitochondrial disorders fall into the category of among the most common inherited disorders, but are more difficult to identify because they can affect many organs and resemble other conditions.  During this study, researchers found that they can make a definite or probable genetic diagnosis for 31% through a whole genetic genome from a single blood test.  This will make these tests for people much easier, because they can get a blood test pretty much anywhere, and don't have to travel for tests and wait for a long time for the results.  A more reliable genetic test for mitochondrial disorders like this could also improve research about these disorders.  

    Mitochondrial genetic disorders are a series of conditions that affect the mitochondria, which affects every cell in the human body, considering all cells contain mitochondria.   The organs and tissues most commonly affected are the brain, muscles, heart, liver, nerves, eyes, ears, and kidneys.  Mitochondrial genetic disorders can be caused from mutations in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and an inadequate production of energy.  

    Whole genome sequencing of blood samples can improve the detection of rare genetic conditions such as mitochondrial genetic disorders.  

https://www.usnews.com/news/health-news/articles/2021-11-08/blood-test-looks-at-patients-whole-genome-to-spot-rare-inherited-diseases 

https://rarediseases.info.nih.gov/diseases/7048/mitochondrial-genetic-disorders