Mutations in the so called breast cancer genes can lead to an 85% increased chance of developing breast cancer and up to 50% increased chance of ovarian cancer.
For those with a known mutation, such genetic information provides the opportunity to undergo vigilant screenings or take steps to greatly reduce their cancer risk by removing their breasts or ovaries.
But there are families where one member wants to take advantage of advances in biotechnology while another would prefer to leave the genetic secrets locked away.
The Burden of Knowledge
In her book Pretty is What Changes, Jessica Queller explores the impact her decision to get tested had on her sister. When Jessica tested positive for a BRCA mutation, her sister Danielle - who had planned not to be tested and so be free of the burden of such knowledge – felt that Jessica had cancelled her choice to remain sheltered.
It’s a scenario Gerda Evans from kConFab, a foundation for research into familial breast cancer, knows all too well.
“In one family you can have some people who want to know if there’s a mutation and others who don’t want to know, and you have to respect that. It can create all sorts of difficulties for the treating medical people, and there have been terrible upsets within families over these issues.”
Support Groups for BRCA Mutations
Counselling should be undertaken before testing for BRCA mutations and can also provide much needed support for those who choose not to be tested.
Online support groups are also a vital resource. Krystal Barter was 25 years old when she had a preventative double mastectomy after testing positive to a mutation in the BRCA1 gene. She has since started Pink Hope to provide information and support to other high-risk individuals.
Barter says while her family was united in wanting to have the BRCA gene test, she understands why some people would prefer not to share their results or be tested.
“It is a very confronting issue and some families find it difficult. Finding out you are BRCA positive is like a cancer diagnosis, but in reality it is giving you the opportunity to change your destiny and be proactive with your health. Which is something the next generation will be grateful for.”
The social and ethical dilemmas posed by genetic testing also extends to parents who have tested positive and are therefore able to select a child through IVF to be free from the known mutations.
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