2008 Barcelona - European Society of Human Genetics

EMPAG Posters
EP10. Genetic counselling: communicating
genetic information
EP10.01
Pitfalls in communicating 5-Probe FisH results- Lessons learned
in genetic counselling
M. I. Ross1 , G. McGillivray2 ;
1 2 Victorian Clinical Genetics Services, Clayton, Victoria, Australia, Murdoch
Childrens Research Institute, Melbourne Victoria, Australia.
In Victoria Australia, all pregnant women are offered serum screening
to identify those fetuses which are considered to be at an increased
risk for Trisomy 21, Trisomy 18 and Neural Tube defects . Women returning
an increased risk may be counselled by their general practitioner,
obstetrician, midwife or genetic counsellor, and are offered
diagnostic testing . Many choose to have a FISH analysis as part of the
diagnostic testing .
I present a number of women who experienced a normal FISH result
from diagnostic testing, many believing that this was the complete result
. They were later found to have a (different) abnormal karyotypean
event that caused distress and confusion .
I discuss their varied reactions and emotions in response to this
“changed” result, and how they addressed the unexpected and difficult
decision-making that followed .
Examination of these cases highlights the need to exercise great care
when giving and discussing prenatal FISH results in the setting of increased
risk for aneuploidy via serum screening . Clearer information
given when the test is offered may alleviate these situations, but does
little to reduce anxiety . The cases also demonstrate a need to provide
ongoing education for health professionals who offer these tests to
their clients, often also believing that the normal FISH result is an accurate
description of the final result.
EP10.02
Family Perspectives on inherited Arrhythmia services
C. R. Honeywell1,2 , B. Wilson2 , R. Gow1 ;
1 2 Children’s Hospital of Eastern Ontario, Ottawa, ON, Canada, University of
Ottawa, Ottawa, ON, Canada.
Assessing the interests and experiences of individuals affected by genetic
conditions is an important component of service development . In
the genetic arrhythmia literature, there is a paucity of information about
what both affected and at-risk family members feel are the important
elements of their care . We present the results of an anonymised survey
administered to patients and their relatives who have been assessed
for genetic arrhythmia through the CHEO Inherited Arrhythmia Clinic .
A response rate of 52% was achieved with online and postal surveys .
The respondents were 55 individuals (45% male) from 25 families,
aged 14 to 70+ years who attended the clinic because of diagnosed or
suspected long QT syndrome, arrhythmogenic right ventricular cardiomyopathy,
or catecholaminergic polymorphic ventricular tachycardia .
Results: Respondents perceive education and protective follow-up
care to be the most important roles of an inherited arrhythmia service .
Healthcare decision-making and support also emerged as important
roles. At the first appointment, primary information needs concern the
heart condition itself, long-term outcomes, and restriction of activities .
Support group information is a low priority initially, but emerges later
as an important requirement . With respect to timing of genetic counselling,
respondents indicated no strong preference for counselling in
advance, same-day or after heart investigations . However, 70% of respondents
expressed that the location of counselling matters; the majority
expect face-to-face counselling in a private location. These findings
provide insight into families’ preferences for inherited arrhythmia
services, and how such services might be most optimally configured to
meet their needs within inevitable resource constraints .
EP10.03
What physicians tell to individuals at risk of breast and ovarian
cancer syndrome (HBOs) referred for genetic counselling.
IMASS Spanish cohort
E. Darder, B. Graña, A. Velasco, D. Fortuny, T. Ramón y Cajal, A. Torres, J.
Sanz, C. López, N. Gadea, I. Mensa, C. Saura, J. Brunet, J. Balmaña;
IMASS, Barcelona, Spain.
Background: Individuals at risk of HBOS are referred to genetic counselling
units for genetic testing . It is unknown how much information
these individuals get by their reference physicians before counselling .
Materials and Methods: Spanish individuals at risk of HBOCS referred
to genetic counselling were asked to participate in a multicenter study
by fulfilling a self-completed questionnaire before BRCA1/2 testing .
Variables were analysed using descriptive statistics and Fisher Exact
test with SPSS .
Results: Overall, 243 individuals were enrolled . Median age was 44
years (range 19-88), 88% were women and 67% had a previous diagnosis
of cancer . Most participants (65%) were referred by a physician,
30% by a relative and 5% were self-referred . The reference physician
did not inform 48% of individuals about their risk of developing cancer,
of those informed 70% were told to have a higher cancer risk than the
average population . Physician informed 46% of total individuals about
the possibility of genetic testing recommending it to 37% . Seventyfive
individuals (31%) did not received any information about genetic
counselling/testing before their risk assessment visit, while the main
information source for 74 (30%) was the media . A similar proportion of
cancer patients and healthy individuals at risk of HBOS received previous
information by the reference physician (53% vs . 49%, p=0 .58) .
Conclusions: A low percentage of individuals at risk of HBOS are informed
by their reference physician about their cancer risk and genetic
predisposition before genetic counselling . Further efforts have
to be done to improve medical awareness about hereditary cancer
syndromes .
EP10.04
Cancer Knowledge, Risk Perception, and Cancer Worry after
Genetic counselling for Hereditary Breast cancer in spain.
E. Cabrera 1 , A. Zabalegui 1 , M. Peris 2 , I. Blanco 2 ;
1 Universitat Internacional de Catalunya, Barcelona, Spain, 2 Genetic Counseling
Unit. Prevention and Cancer Control Department. Catalan Institute of Oncology,
L’Hospitalet, Spain.
Identification of a genetic basis underlying breast cancer has led to an
increase in demand for genetic counselling about individual risks of the
disease . Genetic Counselling Units are becoming an integral part of
cancer services . It is, therefore, important to assess how attendance at
these clinics impacts on cancer knowledge, cancer-related concerns,
and risk perceptions . Previously, we have reported a validation of a
Spanish Translation of the Cancer Worry Scale, Escala de Preocupación
por Cáncer, which can be used to asses cancer worry in the
setting of genetic counselling . A total of 212 Spanish patients were
consecutively recruited, and 152 completed all questionnaires before
and one and 6 months after genetic counselling . Cancer knowledge,
including breast cancer prevention measures, significantly increases
after genetic counselling . Patients’ risk perception did not correlate
with the actual breast cancer risk calculated by the counsellors . Patients’
perceived risk did not modify after genetic counselling . Patients
were significantly less worried after counselling. Higher levels of worry
were predicted by high degree of perceived risk of developing cancer,
higher levels of anxiety and low level of education . In conclusion, counsellors
met the patients’ psychological needs to a satisfactory degree
during counselling . However, patients did not fully understand their risk
of developing cancer .
EP10.05
Breast cancer Genetic counselling in cyprus: First
epidemiological data
V. C. Anastasiadou 1,2 , E. S Aristidou 1 , A. Hadjisavvas 3 , Y. Marcou 4 , E. Kakouri 4 ,
T. Delikurt 1 , K. Kyriacou 3 ;
1 Clinical Genetics Service, Cyprus Institute of Neurology and Genetics, Nicosia,
Cyprus, 2 Makarios Medical Centre, Nicosia, Cyprus, 3 Department of Electron
Microscopy and Molecular Pathology, Cyprus Institute of Neurology and Genet-