1. BRCA1 and BRCA2 Cancer genetic counseling
Vigdis Stefansdottir, genetic counsellor at Landspitali
Brjostaheill

2. Genetic counselling at Landspitali - National University Hospital

3. Cancer genetic counseling in Iceland
Cancer GC at the end of 2006
Oncologist - Oskar T. Johannsson
Steadily increasing
Most because of HBOC
2400 have been to CGC
The Angelina Jolie effect
Two founder variations

4. BRCA1 and BRCA2 in Iceland
Two founder variation known as the c.771_775del5 (999del5) in BRCA2 and the 5193G>A in BRCA1
The BRCA2 variation is found in % of the population
(appr individuals of all age and both genders)
The BRCA1 variation has unknown prevalence - to date 5 families
Other variations in BRCA gene
Variable cancer history

5. Reason for referral/testing
A known BRCA1/2 gene mutation (or other inherited gene mutation linked to breast cancer) in the family
A personal history of breast cancer younger than 50 years of age
A personal history or of breast cancer any age and a family member (parent, sibling, child, grandparent, grandchild, uncle, aunt, nephew, niece or first cousin) diagnosed with breast cancer at age 50 or younger
A personal history of breast cancer and Ashkenazi Jewish heritage
(appr. 3% of the population has a BRCA1 variation
A personal history of triple negative breast cancer (breast cancer that is estrogen receptor-negative, progesterone receptor-negative and HER2-negative) diagnosed at age 60 or younger 
A personal or family history of ovarian cancer
A personal or family history of male breast cancer
A personal of family history of pancreatic cancer <60 
Any combination of the above

6. Databases Comprehensive genealogy database Mandatory to record
Information many generations back
Nation wide Cancer Registry
All cancers since 1954
Breast cancer since 1911
Mandatory to record
Accurate information
Pedigrees our work
Bio samples - far back
Risk assessment

7. Genetic counseling is…
“A communication process which deals with human problems associated with the occurrence, or the risk of occurrence, of a genetic disorder in a family”
American Society of Human Genetics 1975

8. Families and people are different

9. Counsellee information:
Reason for coming
Family health history
Family size
Family members
Thoughts
Worries
Counsellor information:
Disease Inheritance Risk assessment Surveillance program Support Decision making - non-directive

10. Two sides of testing Increased knowledge
Less anxiety because of the unknown
Certification
Surveillance
Preventive measures
Fear, anxiety
Do I have the gene?
Disagreement within the family
Changed self-image
I am different, I am a mutant!
What about insurance?
Why me?

11. Waiting for the outcome

12. Afraid of the unknown Having a BRCA variation is a scary thing
What does it mean?
Will I get cancer?
When will I get cancer?
What about my children?
Will I have children?
Am I going to die?
and and and and and and….

13. Survival guilt
I felt bad because my sister got a positive result. I felt guilty because in my opinion I was the stronger one and should have been the one to have a positive results instead of her”.

14. Life is never straight!

15. Online communities

16. What to do with the informaton?
The new norm
What is the right thing to do?
What about other cancers?
Pancreas
Prostate
Ovarian
Others
Different reality

17. …we are all different, all alike and all equal!
Thank you for listening
and remember that…
…we are all different, all alike and all equal!