IAntonucci Molecular Genetics G dAnnunzio University Chieti Request of genetic testing Genetic counseling a multistep process WHO IS A CANDIDATE FOR CANCER GENETIC COUNSELING AND TESTING ID: 930869
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Slide1
HBOC Genetic counseling: major concerns and communication skills
I.Antonucci
,
Molecular Genetics
“G.
d'Annunzio
” University,
Chieti
Slide2Request of
genetic
testing
Slide3Genetic counseling: a multistep process
Slide4WHO 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
C
riteria
Evaluation
of the risk of being a carrier of
BRCA1/BRCA2 mutations
- BRCAPRO : carrier probability (CP)
>10
%
Slide5BRCAPRO: Bayes
Mendel-Model
BRCAPro
CP
>10
%
Detection rate : 36.8%
BRCAPro
CP >50
%
Detection rate :
52.3%
Slide6CaGene
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
Slide7INTERDISCIPLINARY
GROUP
Geneticist
Psychologist
Radiologist
Senologist
surgeon
Gynecologist
Pathologist
Oncologist
NCCN Practice Guidelines
Slide8New
selection
criteria
Multiple relatives affected
Young age at diagnosis
Multiple primary cancers
Unusual Cancer
Male breast cancer
Family history
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 aged) Men with breast cancer at any agee) Women suffering from ovarian cancer at any agef) Women with ovarian carcinoma with tissue BRCA mutationh) Presence of multiple neoplasia (melanoma, pancreatic carcinoma, hepatic carcinoma and colorectal cancer)
Patients
always
eligible
for
genetic
testing
:
Slide9Psychologist in
genetic
counseling
Slide10Preoperative genetic testing and surgical decision.
Non-conservative
surgery
proposals
Targeted
therapy
proposals
(PARP-
Inhibitors
)
Slide11Surveillance for
unaffected BRCA1 and BRCA2 mutation carriers
Slide12A
retrospective
study of
197 patients with
breast
/
ovarian
cancer
recruited
between 2014
and
2017
:
preliminary
results
Years
Probands
Mutation
carriers
Detection rate
CaGene
6.0
positive
Mutation
carriers
Detection rate
CaGene
6.0 negative
and
mutation
carriers
2014
22
5
22%
6
350%40%201536720%9444%42%2016481021%10440%60%2017912124%181055%52%TOTAL197
43
21 %
43
21
48 %
51 %
New
selection
criteria
Slide13Post- test counseling
Slide14Clinical
Management:Mutation-Positive
Patient
Mutation
Negative
Testing
for
other
adult
relatives
Slide15Evolution
of
clinicians attitude
- 2018