Genetic Testing: Background information when reading Mercies in Disguise

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Mercies in Disguise

A Story of Hope, a Family's Genetic Destiny, and the Science That Rescued Them

by Gina Kolata

Mercies in Disguise by Gina Kolata
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  • Published:
    Mar 2017, 272 pages

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Genetic Testing

Mercies in Disguise discusses the impact of a rare genetic disease on a South Carolina family.

Genetic testing's history dates back to the discovery of chromosomes – the part of the cell that contains the genes which control how a living thing grows – in the late 1800s. It was early in the 1900s that inherited diseases were first linked to chromosomes.  In the 1950s, discoveries relating to the science of genetics allowed the development of tests for genetic conditions including Down syndrome, cystic fibrosis and some forms of muscular dystrophy.  Advances in the field have led us to the point where genetic testing is available for over 2000 rare and common conditions, and is provided from over 500 laboratories across the globe.

Modern testing involves taking a sample of a person's DNA from their saliva or blood and then generally sending it to a lab to check for abnormalities, comparing the results to a vast database accumulated over time of what a ...

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