Genetic testing

This last week my mom and I attended my genetic testing doctor's appointment. This is where Huntsman is amazing. They start by tracking your family tree and identifying all health issues, ages, gender, and hereditary risks and deaths.

(This is what the chart she made looked like- I'm glad my mom was there to help figure everything out)

 Did you know that colon cancer and breast cancer (with links to ovarian cancer) are the two cancers that are the strongest in genetic links. My dad's side has history of colon cancer and my mom's has a history of breast cancer. So the testing is very beneficial for my family members.... Not so much for me since I already have cancer! However if you are BRCA positive you are at risk for ovarian cancer as well and for me that would mean I would have a hysterectomy in addition to the current procedures. 

"Hereditary cancer risk comes from genetic changes that people inherit from their mother or father. A hereditary risk factor may be passed down through family generations, though only 5-10% of all cancers are caused by known inherited genetic changes." - Huntsman Institute

But the benefits that my siblings, nieces, nephews, cousins, parents, and children could gain could prevent them for missing a diagnosis. It would allow for early detection. The cost is substantial, but insurance usually covers all but $375.  This will determine the BRCA gene and if it is present and whether my breast cancer is genetic and what percentage is predicted. This would mean that Mikayla would start mammograms at age 24. And Angelina Jolie was notified that she has this hereditary gene and elected to cut them off to avoid any future issues. 

So today they took my blood and in 3 weeks we will have a huge report detailing our families genetic risks and potential things to avoid and decrease their risk. Very cool and very valuable information.

Are you curious what your risk would be? Take this online survey from myriad online:

BRCA Risk Calculator

Please answer the following questions to evaluate your patient's risk for a BRCA1 or BRCA2mutation.

• Is the patient male or female? Female Male
• Is the patient of Ashkenazi Jewish decent? No Yes
• Has the patient ever been diagnosed with breast cancer? No Yes

Family History

(Includes at least one first or second degree relative.)

• Has anyone in your patient’s family been diagnosed with breast cancer under the age of 50?
•  No Yes
• Has anyone in your patient’s family been diagnosed with ovarian cancer?
•  No Yes

Calculated BRCA Mutation Risk: --% 

http://www.myriadpro.com/brca-risk-calculator/calc.html

Here is the information Huntsman provides: 

"Knowledge of the genetic basis of cancer is essential to understanding the disease. Genetic data is important in all aspects of cancer management, including the following:

• Improving our understanding of cancer biology
• Helping identify individuals at increased risk for the disease
• Increasing our ability to characterize various subtypes of cancer
• Designing treatment plans tailored to the specific cancer subtype
• Developing new cancer treatments

Cancer susceptibility genes

In some families, DNA tests can identify specific gene mutations as the cause of inherited cancer risk and determine whether family members have inherited the disease-related mutation. Genetic test results are unclear when an unclassified variant (a change in the DNA with unknown significance) is found. Research continues at Huntsman Cancer Institute to learn more about these variants and their significance."

Not the most exciting blog, but very helpful for those of you who NEED to get a mammogram. Maybe you've been ignoring all those commercials bugging you to go get one- Or the big billboards in Davis County! If there is any cause for you to get a colonoscopy get it done. It is a shitty thing, but only for a night! Hahaha

We know that these cancers can be cured with early detection and this genetic testing just helps us understand our risks and possible preventative measures. So boring blog, but hopefully provided some info for some of you!