Cardiology

Q&A: Hypertrophic cardiomyopathy

My sister was just told she has hypertrophic cardiomyopathy. I've heard of that causing sudden death in athletes. She says she feels fine and doesn't need treatment now, so is she at low risk? What does her diagnosis mean ...

Medications

Genetic screening before prescribing could benefit millions

Four million UK patients could benefit annually from genetic testing before being prescribed common medicines, according to new research from the University of East Anglia (UEA) in collaboration with Boots UK and Leiden University ...

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Genetic testing

Genetic testing allows the genetic diagnosis of vulnerabilities to inherit diseases, and can also be used to determine a person's ancestry. Normally, every person carries two copies of every gene, one inherited from their mother, one inherited from their father. The human genome is believed to contain around 20,000 - 25,000 genes. In addition to studying chromosomes to the level of individual genes, genetic testing in a broader sense includes biochemical tests for the possible presence of genetic diseases, or mutant forms of genes associated with increased risk of developing genetic disorders. Genetic testing identifies changes in chromosomes, genes, or proteins. Most of the time, testing is used to find changes that are associated with inherited disorders. The results of a genetic test can confirm or rule out a suspected genetic condition or help determine a person's chance of developing or passing on a genetic disorder. Several hundred genetic tests are currently in use, and more are being developed.

Since genetic testing may open up ethical or psychological problems, genetic testing is often accompanied by genetic counseling.

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