2008 Barcelona - European Society of Human Genetics

EMPAG Posters
most patients’ psychosocial needs. Findings highlight the benefits of
co-facilitation between geneticists and genetic counsellor when each
has clearly defined complementary roles.
EP10.23
Explaining X-linked inheritance: the importance of the personal
drawing
T. Gale 1 , S. Pasalodos-Sanchez 2 , L. Kerzin-Storrar 1 , R. Macleod 1 ;
1 Regional Genetics Service and Medical Genetics Research Group, CMMC
NHS Trust and University of Manchester, Manchester, United Kingdom, 2 Nottingham
Regional Clinical Genetics Service, NUH NHS Trust, Nottingham,
United Kingdom.
An explanation of the mechanism of inheritance is a key component of
many genetic consultations . However, no evidence base exists for this
significant area of practice.
We present the results of a process study, involving twenty-one individuals
with a family history of an X-linked condition . Their genetic
counselling consultations were videotaped and participants were then
visited at home by the researcher . Adapting techniques of Interpersonal
Process Recall, the section of videotape featuring the explanation
of inheritance was played back to participants . Their responses
and reflections were elicited and recorded on audiotape. In a separate
arm of the study, the counsellors were shown the videotape and were
similarly interviewed by a second researcher about their experience .
The patients felt that a personalised diagram, drawn by the counsellor
during the consultation, conveyed X-linked inheritance in a visual and
engaging way, allowing them to conceptualise risk figures. Its stepwise
construction facilitated slower assimilation of information, allowed
room for questions and assisted with retention of the information . The
diagram’s individualised nature allowed patients to contextualise their
family history such that personally relevant questions could be answered
. Importantly, this did not appear to require patients to first understand
complicated genetic concepts such as the biological basis of
genes or chromosomes .
Counsellors too reflected on the construction of a drawing during the
consultation; which they felt helped them to both pace and individualise
the explanation .
This presentation will elaborate on patient and counsellor reflections
on this key aspect of the genetic counselling consultation .
EP10.24
Explaining X-linked inheritance: the importance of the
counsellor-counselee relationship
S. Pasalodos-Sanchez 1 , T. Gale 2 , G. Hall 2 , L. Kerzin-Storrar 2 , R. Macleod 2 ;
1 Nottingham Regional Clinical Genetic Service, NUH NHS Trust, City Campus,
Nottingham, United Kingdom, 2 Regional Genetics Service and Medical Genetics
Research Group, CMMC NHS Trust and University of Manchester, Manchester,
United Kingdom.
Previous research has highlighted that the quality of the relationship
between genetic counsellor and counselee can impact on a successful
outcome of genetic counselling . Many studies have focused on the
counselee’s perspective . We report on a process study involving 2 experienced
genetic counsellors, as part of a triangulated study looking
at how X-linked inheritance is explained in the genetic clinic . Following
10 clinic consultations, the genetic counsellors and the researcher
(SP-S) watched the relevant sections of the video together, and counsellor
comments were audiotaped and transcribed .
The counsellors recognised a favoured sequence for explaining Xlinked
inheritance, whilst holding a goal of tailoring the explanation .
This was made difficult where rapport was less well established because
of lack of verbal/non-verbal cues from the patient or whether
it was the first contact. Where the counsellors felt a good rapport had
been achieved, they felt better able to take account of age/educational
background/need for information in order to personalise the explanation
more effectively .
In a separate arm of the study, counselees also expressed the importance
of the relationship in giving them confidence- both in themselves
to ask questions for clarification- and in the counsellor’s ability to help
them achieve an understanding .
It is noteworthy that both counsellors and counselees reflected on
counselling dynamics during the part of the consultation, which would
be thought of us primarily educative .This paper will present further
evidence that a division between education and counselling goals in
genetic counselling consultations may be unhelpful .
EP11. Strategies to facilitate decision
making in genetics
EP11.1
the impact of a BRCA support-information group on the choice
for a preventive mastectomy is limited
K. M. Landsbergen;
Department of Human Genetics. From the Hereditary Cancer Clinic, Nijmegen,
The Netherlands.
Introduction: Important aims of a BRCA group are assimilation of being
BRCA1/2 carrier, and professional guidance in choosing prophylactic
mastectomy or breast cancer surveillance .
Aim: To determine whether attending a BRCA group influences the
choice for surveillance or prophylactic mastectomy .
Patients and methods: 196 BRCA1/2 mutation carriers were included
of who 89 participated in a BRCA group . Preference for prophylactic
mastectomy was registered after mutation carriership was revealed,
thus before first attendance of the group.
Results: Characteristics of patients, who did or did not participate in a
BRCA group, did not show any difference in demographic variables,
age at breast cancer diagnosis, menopausal status or family cancer
history . Preference for preventive mastectomy or surveillance was not
significantly different in participators and non participators, being 31/89
(35%) and 27/107 (25%) respectively (p=0 .13) .
After a median observation period of 2 years (range 1-9 years) the
percentage of women actually performing preventive mastectomy was
significantly higher in participators than in non-participators of a BRCA
group, 45% and 29% respectively (p=0 .02) . However, in the group
with prior preference for mastectomy who did and did not participate
in a BRCA group, prophylactic mastectomy was performed in 90%
and 55%, respectively (p=0 .003), in the group with prior preference
for surveillance these percentages were 19% and 20% respectively
(p=0 .09) .
Conclusion: The impact of a BRCA support group on the choice for
prophylactic mastectomy is limited, and is determined by the woman’s
preference prior to the establishment of a BRCA mutation .
EP11.2
Development of a tailored, online decision aid on screening
options for unaffected men with a family history of prostate
cancer
C. Wakefield 1,2 , B. Meiser 1,2 , K. Watts 1 , A. Barratt 3 , M. Patel 3 , G. Mann 4 , E.
Lobb 5,6 , K. Howard 3 , C. Gaff 7 , J. Ramsay 8 ;
1 Prince of Wales Hospital, Randwick, Australia, 2 University of New South
Wales, Sydney, Australia, 3 University of Sydney, Sydney, Australia, 4 University
of Sydney, Westmead, Australia, 5 Curtin University of Technology, Perth, Australia,
6 Edith Cowan University, Perth, Australia, 7 Genetic Health Services of
Victoria, Parkville, Australia, 8 Liverpool Hospital, Liverpool, Australia.
PURPOSE: Men at increased risk for prostate cancer on the basis
of family history are confronted with difficult decisions regarding the
management of that risk . The information that needs to be conveyed
is complex, and men often have difficulty accurately weighing up the
costs and benefits of screening tests such as prostate specific antigen
(PSA) screening .
METHODS: This study has two stages: (i) to develop and pilot-test an
online, tailored decision aid for unaffected men with a family history of
prostate cancer to inform them about their risk management options;
and (ii) to compare in a randomised trial the efficacy of the decision
aid to that of a comparison website amongst men at increased risk of
developing prostate cancer on the basis of family history .
RESULTS: The early prototypes of the online decision aid were developed
using an iterative process involving a working party comprised of
experts and a consumer representative . It provides information on the
genetics of hereditary prostate cancer, personal and family risk of developing
prostate cancer; putative protective factors; screening tests
and efficacy and side-effects of treatment options. Pilot-testing with
approximately 20 unaffected relatives of men diagnosed with prostate
cancer is currently underway, and results will be reported from the pilot
testing phase .
CONCLUSION: A decision aid seems particularly suitable to provide