Genomic Testing, Angelina Jolie, and You

Genomics has been making headlines for years now. Many of the high profile stories revolve around breast cancer, and how research has made a connection between certain genes and an increased risk. Much of the publicity, however, has revolved around BRCA1 and BRCA2. Most clinical gene sequencing companies that offer a breast cancer risk assessment offer a gene panel that only looks at those two genes. While these are the major genes associated with hereditary risk for breast cancer, there are currently 14 other genes associated with the disease. All of these genes are essential in understanding the biological background of an individual patient’s cancer.

Angelina Jolie by Gage Skidmore, courtesy of
Angelina Jolie by Gage Skidmore, courtesy of

When Angelina Jolie announced the results of her own BRCA1 and 2 test, and her decision to undergo a double mastectomy, risk assessment for breast cancer caught a lot of media attention. News outlets that focused on the story failed to pair the news with real knowledge about hereditary risk. A study survey published in the journal Genetics Medicine revealed that while most respondents knew that Jolie underwent her surgery to reduce risk of breast cancer, most incorrectly thought that there was no heightened risk in people without a BRCA mutation. BRCA does represent major hereditary risk, but there are many other genes affecting risk, or the development of the cancer.

Meanwhile, companies that provide clinical breast cancer risk assessment continue to focus their efforts in a narrow spectrum. Gene panels that only look at BRCA1 and BRCA2 aren’t looking at the full picture. CDH1, STK11, and TP53 also have variants that cause a serious increase in risk, in addition to 12 more that play some factor in the cancers development. Some gene panels do look at more than just BRCA1 and 2, but they are few and far between. Even then, gene panels are an ineffective way to understand the complete biological background of a disease. Whole Exome Sequencing (WES) holds the most promise for clinical utility.

Hereditary risk is complex, and cannot be completely understood through a limited gene panel. WES provides a more complete picture by sequencing over 22,000 genes, including all 16 genes currently associated with breast cancer. By analyzing the entire exome we build a comprehensive understanding of the impact variants in the patient’s genome may have on his or her health. New Amsterdam Genomics offers a complete exome test, which looks at all of these genes. The importance of understanding true hereditary risk for genetic disease is astronomical, and public knowledge of WES availability is essential.




One Comment Add yours

  1. Ashley says:

    “PALB2 is a potential candidate to be ‘BRCA3′” press release from Dr. Tischkowitz this week on this report published just this week. The risk of developing breast cancer is 35% higher in women with PALB2 mutations than in those without, making PALB2 the next biggest risk factor after BRCA1 &2. This means women who have been tested for just BRCA panels have a very incomplete risk assessment. Exome sequencing is important – sequence just once and risk is updated as new studies like this are published!

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