Consumer Genetic Testing Goes Mainstream to Help Screen for Breast and Ovarian Cancer Risk

September 26, 2017 – Color Genomics has introduced a screening test that indicates whether you have two gene mutations that put you at higher risk for developing breast cancer. Regularly priced at $149 U.S., the company during Ovarian Cancer Awareness Month and Breast Cancer Awareness Month, has reduced its price to $99.

It’s really a very simple process. You order the kit online or get your physician to order it for you. You provide a saliva sample which is mailed back to Color Genomics. The results are posted online for your private viewing. You can then connect to a board-certified genetic counselor at Color Genomics who will answer your questions. Color Genomics states that its test provides greater than 99% accuracy.

What genes are involved?

The human genes involved are known as BRCA1 and 2. They produce tumor-suppressing proteins, that is enzymes that serve to repair damage to genetic material in cells. When either gene mutates it means the proteins may no longer do their job of keeping DNA intact.

BRCA1 and 2 mutations are linked to several types of cancer with breast and ovarian the most common. Together they are responsible for almost one-quarter of hereditary breast cancer, and up to 10% of all breast cancer. In terms of ovarian cancer, the mutated genes are linked to 15% of ovarian cancer.

If you have mutated BRCA1 and 2 genes and are young, screening for ovarian and breast cancer is advisable regularly.

BRCA1 and 2 mutations can be inherited from either a male or female parent leaving offspring with a 1 in 2 chance of inheriting the defective genes.

What are the risks of getting breast cancer over a lifetime?

• 12% of women in the general population develop this cancer.
• But 55 to 65% who inherit the BRCA1 mutation develop it.
• And 45% who inherit the BRCA2 mutation develop it.

What are the risks of getting ovarian cancer over a lifetime?

• 1.3% of women in the general population develop this cancer.
• But 39% who inherit the BRCA1 mutation develop it.
• And up to 17% who inherit the BRCA2 mutation develop it.

Are other cancer risks detectable doing this test?

• BRCA1 mutations are associated with increased risk for women developing fallopian tube and peritoneal cancers.
• BRCA2 mutations in men pose an increased risk for breast cancer.
• BRCA 1 and 2 mutations in men are associated with increased prostate cancer risk.
• In men and women, both mutated genes pose a risk for pancreatic cancer.
• A child inheriting both defective genes from both parents is at greater risk of developing acute myeloid leukemia.

Does the mutation appear more often to be associated with ethnicity?

• For Ashkenazi Jews (those of Eastern and Central European descent), there is a higher incidence of BRCA1 and 2 mutations.
• Norwegian, Dutch and Icelanders also have a higher incidence of these two gene mutations.

What’s in the future for consumer genetic screening?

Color Genomics is one of a number of companies providing predictive genetic testing for consumers. In the past, I have written about 23andMe, a company that provides some key genetic characteristics in a simple saliva test that you receive and send back through the mail. Joining them are a number of other companies including:

• Ancestry.com
• ARUP Laboratories
• BGI
• Genesis Genetics
• GPS Origins
• Living DNA
• My Heritage DNA
• Myriad Genetics
• Pathway Genomics

These are the leaders in what is a growing trend that one company, Key Market Insights, predicts will be a $5.7 billion business in five years.

Most of these companies focus on genealogy, giving you a sense of your genetic ancestry. They are less about screening for potential genetic mutations that could lead to inheritable diseases.

But there is no doubt that companies offering consumers an ability to screen for genetic risk will be very much a part of regular medical practice within the next few years, another example of the democratizing of medicine in a subject area that less than two decades ago was in its infancy as the first efforts to map the human genome succeeded.