European Human Genetics Conference 2007 June 16 – 19, 2007 ...

Genetic counselling, education, genetic services, and public policy 2
genetic thinking in the physicians independently of their specialization.
Professor S. Klueva with her colleagues provided possibility to acquire
knowledge of human genetics for more than 5000 physicians. The Department
of Medical Genetics organized by Professor Svetlana Klueva
is her “monumentum aere perennius”.
P1388. Genetic screening criteria in the age of Genomics
M. C. Cornel 1 , C. van El 2 , L. Krijgsman 1 , T. Pieters 2 ;
1 Clinical Genetics/EMGO Institute, VU University Medical Center, Amsterdam,
The Netherlands, 2 Medical Humanities, VU University Medical Center, Amsterdam,
The Netherlands.
In the domain of genetic screening insight in screening criteria is needed.
They help weighing pros and cons when preparing decisions on
new possibilities for screening generated by Genomics. Some genetic
screening programs in the Netherlands have developed rapidly, such
as cascade screening for familial hypercholesterolaemia, while others
were introduced many years after implementation in other countries,
such as prenatal Down syndrome screening.
We investigated long term developments in Dutch genetic screening
policy by the means of a witness seminar. Most of the key players
involved in decision making on genetic screening since 1970 attended
the seminar. In addition we set up focus group meetings to explore attitudes
and choices of potential users regarding genetic testing.
The witness seminar showed a remarkable confusion of tongues on
terms like “prevention”, “responsible parenthood” and “population
screening” as part of the Dutch screening debate in the 1970s and
1980s. Moreover there were frequent misunderstandings among policy
makers and scientists on the ins and outs of informed decision making
in the domain of reproductive screening. Screening was sometimes
understood as obligatory, where informed decision making was intended.
Policy aims to “protect citizens against the dangers of screening”.
Hence, screening for disorders for which no treatment is available
(including prenatal screening) is deemed problematic. However, focus
group participants stated that they want to be able to make a personal
choice as independent citizens, based on adequate information.
Governmental responsibility for quality control suits citizens presentday
expectations better.
P1389. Supporting policy development for population-based
genetic screening
I. R. Blancquaert 1,2 , A. Andermann 1,3 , S. Beauchamp 1 , I. Costea 1,2 , V. Déry 1,2 ;
1 Agence d’évaluation des technologies et des modes d’intervention en santé,
Montréal, PQ, Canada, 2 Université de Montréal, Montréal, PQ, Canada, 3 McGill
University, Montreal, PQ, Canada.
Jurisdictions around the world face complex decisions regarding the
introduction or expansion of population-based genetic screening programs.
Over 50 sets of criteria have been proposed to support decision-making.
OBJECTIVES: 1) to propose a systematic approach to genetic screening
policy-making which enables more balanced and informed decisions
and integrates multiple issues, types of evidence and perspectives;
and 2) to initiate consensus-building among stakeholders around
the decision-making criteria and process.
METHODS: A series of literature reviews and consultations were used
to draw upon existing criteria and to analyse the decision-making process.
Focus groups were conducted with geneticists, public health specialists,
social scientists and citizens to explore the utility and acceptability
of core criteria derived from the literature review. Discussions
within a knowledge network and consultations with policy-makers and
international experts contributed to refining the decision-guide.
RESULTS: The decision-guide consists of general principles, three decision-nodes,
criteria for each node, and types of evidence to consider
for each criterion. The logic of the decision-making process is reflected
in the decision nodes addressing 1) the utility of the screening strategy
for individuals and families, 2) the relevance of implementing the
screening program for a particular target population, 3) and the judicious
allocation of resources at the societal level.
DISCUSSION: The decision-guide makes explicit the reasoning and
the information upon which policy decisions are based and presents a
number of innovations over existing criteria, by clarifying the iterative
nature of decision-making, balancing perspectives, comparing alternatives,
considering context, and promoting the documentation of knowledge
gaps and trade-offs.
P1390. The delay between pregnancy confirmation in primary
care and antenatal sickle cell and thalassaemia screening: a
population-based cohort study
T. M. Marteau, E. Dormandy, E. Reid, K. Brown, M. Gulliford;
King’s College London, London, United Kingdom.
Background: Antenatal sickle cell and thalassaemia (SCT) screening
programmes aim to facilitate timely informed choice for couples. In the
UK, for example, the target for screening is ten weeks gestation. The
objective that screening should be implemented early in pregnancy
may be compromised if there is any delay between pregnancy confirmation
in primary care and implementation of screening.
Objective: To determine the time between confirmation of pregnancy in
primary care and antenatal SCT screening.
Design and setting: Cohort study of all pregnancies reported in 25 general
practices in two UK inner city Primary Care Trusts with universal
screening policies.
Participants: Anonymised data on all pregnancies reported to the participating
general practices for a minimum of six months.
Main Outcome: Time from pregnancy confirmation in primary care to
antenatal SCT screening.
Results: There were 1,496 eligible women whose SCT carrier status
was not known and who intended to proceed with the pregnancy. The
median (interquartile range) gestational age at pregnancy confirmation
was 7.6 weeks (6.0-10.7 weeks). The median gestational age at
screening was 15.3 weeks (IQR 12.6-18.0 weeks), with only 4.4% being
screened by 10 weeks. The median delay between pregnancy confirmation
and screening was 6.9 weeks (4.7-9.3 weeks). After allowing
for practice-level variation, there was no association between delay
times and maternal age, parity and ethnic group.
Conclusion: Reducing the considerable delay between pregnancy
confirmation in primary care and antenatal SCT screening requires
development and evaluation of methods of organising and delivering
antenatal care that facilitate earlier SCT screening.
P1391. Language skills and narrative production in individuals
with Smith-Magenis syndrome
M. T. Le Normand 1 , H. de Leersnyder 2 , K. Hernandez 2 , A. Verloes 2 ;
1 INSERM, PARIS, France, 2 Department Genetics, PARIS, France.
Smith-Magenis syndrome is a rare genetic disorder in which language
abilities are dependant on different factors: mental retardation, speech
delay, severe behavioral difficulties.
Language impairment and delayed language onset have been described,
although not investigated in detail, in children with Smith-Magenis
(17p.12 deletion syndrome).
The aim of the study is to investigate different areas of language: ability
to tell a narrative, phonology, syntax and receptive vocabulary in a
group of six girls and eight boys, aged 8 to 28 years, with 17p12 deletion
syndrome. The mean range full-scale IQ was below 40 to 70 for
children and 44 to 64 for young adults (see Table 1)
Four different language tasks were used: (1) a narrative task (Frog
Story) (2) a repetition task including all 36 French phonemes in different
positions (3) a picture vocabulary task and (4) a receptive syntactic
task
Results revealed dramatically significant improvements in articulation
tasks especially in young SMS. Young adults still made phonetic and
syntactic errors and provide ambiguous references in the story. Their
language performance was better in lexicon than in other components
of language. Such findings suggest slow and asynchronous development
in language and communicative skills. An implication of these
results is the need for continuing speech and language intervention in
individuals with Smith-Magenis Syndrome
Sex
Males
Females
Age (years.months)
Mean (SD)
Range
IQ
Mean (SD)
Range
Table 1. Demographic details for SMS
Children
Young Adults
n = 10
n = 4
5
5
9.7 (2.4)
8-14.11
43 (10.7)
below 40 to 70
3
1
22.10 (3.7)
20.11-28
55 (13.4)
44 to 64