Thursday, 7 February 2013

Genetics and Hereditary Cancer Quiz

It is no secret that genetics and I have tumultuous relationship. I have been battling my Darwinian Failings for the laste decade. And as a result of my long and sorted history with my genes I feel very strongly about my choice to act proactively and the knowledge all of these medical advances have afforded me.

You can't have a blog title like mine. And talk about the things I talk about. Without getting a lot of questions about genetics. I guess I was sort of asking for it, wasn't I?!

I often shy away from really discussing the brass tacks of genetics and genetic testing, because quite frankly it is a complicated topic. And results of which, offer a double edged sword. Once you know, you have knowledge and a choice. But once you know, you also can't unknow either. So you need to be ready to face your results and what they mean.

When I went through my first round of genetic testing for Long QT syndrome, I was already diagnosed, I already had my robot heart, and I had already been through 2 surgeries. So hearing I carried the genetic marker wasn't shock and it didn't exactly change anything either.

When the opportunity arose the be tested for BRCA gene - I knew what that meant for my health, I knew what it meant for my Breast Cancer Risk, I wanted to be tested and to act proactively, and I also knew what my choice would be if the results came back positive. I went into testing pretty resigned to the fact that I would test positive - genetics has never been my strong suit so I assumed that this would be more of the same. I was very prepared for what having this information would mean.

That being said, not everyone has the same checkered medical past that I do though, so making decisions regarding genetic testing and preventative treatments are not always so cut and dry. So to the many people who question me about this type of screening I feel the need to caution you before you journey down this road. Are you ready to face the results whatever they may be?

It is very possible that you will get good news only 7% of all Breast Cancer cases are attributed to the gene, so carrying the gene is rare. Only a very small percentage of the population actually carry the gene, but those who are BRCA+ have an exponentially higher risk of developing the disease. So once you know that you are a BRCA carrier - you know. And choices about screening and preventative options will always remain forefront in your mind. It is something that will begin to inform everything - so you have to be ready for that.

All that doom and gloom aside, I know there are many people who have been affected by Breast Cancer and are curious about the prospect of genetic screening and the BRCA gene specifically. Myriad Genetic's has created a Hereditary Cancer Quiz that anyone can take to assess their risk and to see if genetic screening is something they should look into. Knowing the potential risk can help the healthcare provider and patient make better, more informed decisions about the patient’s health, before the onset of cancer or before a second cancer has a chance to develop. Testing should be considered for hereditary breast and ovarian cancer if:

The Patient:
  • Has had breast cancer at age 50 or younger
  • Has had ovarian cancer at any age
  • Is male and has had breast cancer at any age
  • Is of Ashkenazi Jewish descent and has a personal or family history of breast, ovarian or pancreatic cancer*

The Patient’s Family:

  • Has had two breast cancers in the same person or on the same side of the family
  • Has had somebody diagnosed with triple negative breast cancer at any age
  • Has had pancreatic cancer and an HBOC-associated* cancer in the same person or on the same side of the family
  • Has three or more family members with breast cancer on the same side of the family
  • Has had a previously identified BRCA1 or BRCA2 mutation in the family
If any of these red flags speak to you and your family history, you can follow the link below and take their specifically designed quiz.

Myriad's Hereditary Cancer Quiz

Love your Favourite Darwinian Fail,


    off to share.

  2. YES - so important - sharing as well.. and as always - YOU ARE AMAZING!!!! Hope you are feeling better each day!

  3. Such interesting info! Thanks for enlightening us.

    Hope you're feeling well!

  4. What important information to share.

    You are doing resting and are doing well xo

  5. This post is definitely a trigger for me to think. I come from a genetic blank. I am adopted and know nothing of my family history and always leave that section blank. Each physical the doctor will ask about x, y, or z and I will just shrug my shoulders and say "I don't know". I must be getting better at it, or they are hearing it more often, since I don't get questioned again to make sure I really don't know anymore.

    Thing is, it never crossed my mind to be tested for what I could be tested for. But I don't see me doing it either. I am proactive in my care. I get annual physicals. I listen to my body. And in all reality, a test result that goes a "wrong" way may just cause me too much worry about what if's.

    Thanks for sharing! Who knows? Perhaps one day I may change my mind!

    1. I think you take such good care of your health, that you can't worry about genetics too much. History is well an good, but the likelihood of having a known genetic mutation is rare

      With me my history is so different. My heart condition and BRCA are also so uncommon as well, but I was tested for very specific genes.

  6. Thanks for all the info K. Hope you are recovering nicely. I think ice cream helps... I'll even eat some for you.

  7. thanks for sharing this, krysten - both sides of my family have experienced breast cancer and my husband's mom died of it when he was young - it's an issue that truly hits home. i've wondered about the BRCA testing - this was enlightening to read what to consider before testing. and being ready to face the results.

    hope you're feeling well, post surgery!

  8. As the daughter of a mother who had both ovarian and breast cancer and tested positive for the BRCA gene I really relate to your story.
    However, I haven't chosen to be tested (yet?) myself. I do very much respect your choice to do so and all of the proactive choices you have made. It can't have been easy.
    Even though I have had genetic counselling, am poked/prodded/scanned/squished bi-annually (and have been for years) I'm just not ready to travel down the road that a positive (or perhaps even a negative) test would lead to. Neither though am I ready for what a positive cancer diagnosis would lead to - but who is?
    For now I'm doing my best to live a happy, healthy, active (I'm a runner too!) life.
    Wishing you all the best in your latest recovery and as your journey continues.

    1. Honestly screening is the BEST thing you can do. A preventative mastectomy is drastic, and I understand why a lot of women would not choose this path. It worked for me but a LOT of other factors went into it.

      Whether you are BRCA+ or not screening and being viligant about you health is best way to take care of yourself!

  9. The easiest way to avoid terminal colon cancer is to get colonoscopies on a yearly or bi yearly basis!!! Get over the ICK factor and just DO IT!!!

    1. Knowning you carry a genetic marker in that circumstance though would mean you would start screening earlier -they ask youto start in your 20s. The same goes for the breast cancer gene. Most ppl do not choose a double mastectomy - but you start screening in your 20s rather than your 40s.. And for some people it can spur them to make important lifestyle changes as well.

  10. you are badass, and yes the marathon time was badass! ALways know that! xxoo

  11. Wow - thanks for sharing. A friend of mine very recently had her colon removed at age 23 due to colon cancer. She's recovering remarkably, but just goes to show how we all need to be in tune with our bodies and on top of our health.

  12. Krysten, I am reading more of your blog posts and would love to ask you some questions/share some things with you! Is there an e-mail address I could send you a few questions/comments on?

    1. Of course! My inbox is always open please feel free to email away :)