1. HBOC Genetic counseling: major concerns and communication skills
I.Antonucci, Molecular Genetics
“G. d'Annunzio” University, Chieti

2. Request of genetic testing

3. Genetic counseling: a multistep process

4. WHO IS A CANDIDATE FOR CANCER GENETIC COUNSELING AND TESTING?
Selection of patients for genetic testing is based on defined criteria taking individual and family history related factors into account
Evaluation of the eligibility for the test
-Amsterdam Criteria
Evaluation of the risk of being a carrier of
BRCA1/BRCA2 mutations
- BRCAPRO : carrier probability (CP) >10%

5. BRCAPRO: Bayes Mendel-Model
BRCAPro CP >10%
Detection rate : 36.8%
BRCAPro CP >50%
Detection rate : 52.3%

6. CaGene 5. 1 was more sensitive than CaGene 6
CaGene 5.1 was more sensitive than CaGene 6.0, although the latter showed a higher specificity. CaGene 6.0 has underestimated the genetic risk prediction in some BRCA mutation-positive families

7. INTERDISCIPLINARY GROUP
Geneticist
  Psychologist
  Radiologist
  Senologist surgeon
  Gynecologist
  Pathologist
  Oncologist
NCCN Practice Guidelines

8. New selection criteria
Patients always eligible for genetic testing:
a) Women with early-onset breast cancer (< 50)
b) Women with triple negative breast cancer at any age
c) Women with both breast cancer and ovarian carcinoma at any age
d) Men with breast cancer at any age
e) Women suffering from ovarian cancer at any age
f) Women with ovarian carcinoma with tissue BRCA mutation
h) Presence of multiple neoplasia (melanoma, pancreatic carcinoma, hepatic carcinoma and colorectal cancer)
Family history
Multiple relatives affected
Young age at diagnosis
Multiple primary cancers
Unusual Cancer
Male breast cancer

9. Psychologist in genetic counseling

10. Preoperative genetic testing and surgical decision.
Non-conservative surgery proposals
Targeted therapy proposals (PARP-Inhibitors)

11. Surveillance for unaffected BRCA1 and BRCA2 mutation carriers

12. A retrospective study of 197 patients with breast/ovarian cancer recruited between 2014 and 2017: preliminary results
New selection criteria
Years
Probands
Mutation carriers
Detection rate
CaGene 6.0 positive
CaGene 6.0 negative and mutation carriers
2014 22 5
22% 6 3
50%
40%
2015 36 7
20% 9 4
44%
42%
2016 48 10
21%
60%
2017 91 21
24% 18
55%
52%
TOTAL
197 43
21 %
48 %
51 %

13. Post- test counseling

14. Clinical Management:Mutation-Positive Patient
Mutation Negative
Testing for other adult relatives

15. Evolution of
clinicians
attitude
- 2018