Do you know who your 1st, 2nd, and 3rd-degree relatives are?
Degrees of separation in the family tree can be confusing. And when that family tree includes individuals that need to be genetically tested because of a family history of cancer, confusion can result in a tragedy.
There are not a lot of visual aids to help explain what Cascade Genetic Testing is and who needs testing. So I created this concept and the artwork to go with it to try and make it easier to understand what cascade testing is and who needs to be tested when a germline mutation is discovered. If information like this had been given to two of my wife’s relatives, I would in all likelihood not be a widower.
Remember, no matter who is being tested, there is always another first-degree relative that might need to be tested as well.
Follow the firsts!
This infographic is available gratis at www.genetionary.org.
Having the EXACT SAME PATHOGENIC GENETIC MUTATION passed down over multiple generations -- sometimes centuries -- is obviously a familial issue, NOT an individual one.
But changing medical laws that haven’t evolved with genomic science is difficult. So instead, getting families to communicate about family health and cancer history is a big part of my advocacy. In future posts, I will be sharing tools that can be used to help with the sharing of genetic information among genetic relatives. There are cancers that are preventable.
Here is the link to the scientific paper at Nature.
If genetic testing reveals that you carry a genetic mutation that increases the risk of hereditary cancer, communicating this fact to relatives who might also share the same variant isn’t always the easiest thing to do. But it can be life-saving. Who do you share the information with? How do you share the information? And what information do you include?
I’ve created these two simple tools that can be downloaded from my website, www.genetionary.org, that might help. (And thanks to a certified genetic counselor and really nice person for all the help on the checklist!)
Knowing and sharing family health and cancer history is so important. I should have two previvors* in my family instead of just one. Relatives’ failure to share detailed information about a known BRCA2 mutation in her family robbed my wife of her life. Using these simple tools will go a long way in helping to prevent a similar tragedy.
*Someone who carries a genetic mutation, but doesn’t have cancer.
