Angelina Jolie has been the subject of recent news because she had a preventative double mastectomy. After watching several members of her family battle cancer – Jolie’s mother died from ovarian cancer and her aunt from breast cancer – Jolie decided to take a genetic test for breast cancer. The test indicated that she has the abnormal BRCA1 gene giving her an 80% risk of being diagnosed with breast cancer later in life.

Jolie’s decision and the use of genetic testing as preventative medicine has brought genetic testing into the public limelight.

What is Genetic Testing?

Genetic testing identifies changes in DNA, RNA, genes, chromosomes or proteins in order to identify genes or gene mutations that can be correlated with certain genetic disorders. Currently there are over 2000 genetic tests that identify specific disorders and diseases at the cellular level.

Relation to Genomics

Genomics identifies and analyzes genes in relation with disease.  Genetic testing on the other hand looks only for a specific gene or gene mutation.  The use of both genomics and genetics represents progress in preventative medicine.

Future of Genetic Testing

The CDC’s Office of Public Health Genomics is currently evaluating the effectiveness of genetic tests, while the NIH is building a Genetic Testing Registry that will house voluntary genetic information.

As shown below, over the past two decades there has been a steady increase in the number of genetic tests available.  With Angelina Jolie’s story increasing consumer awareness of new tests and new options, we expect more people to be exploring genetic testing.

How many genetic tests do you think will be available by the year 2020?

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