2008 Barcelona - European Society of Human Genetics

Genetic counselling, education, genetic services, and public policy
public health . Orphanet is accessed daily by over 20,000 users, 20%
of whom are looking for information on genetic testing . Currently, the
database includes data from 1,233 laboratories offering 16,336 tests
for 1,504 diseases . Data collection is done at country level through
partnerships with key leaders in the field. Information is updated yearly
through an online questionnaire prefilled with existing information.
In March 2008, Orphanet launched a new website version to improve
its user-friendliness and to provide expanded information . The new
services include a possibility to query by gene in addition to the traditional
query by disease name . It also includes the possibility to query
by broad category of diseases, as all published classifications of rare
diseases have been introduced in the database . Information on laboratories
was enriched with quality management data, collected and validated
by the QAu database team of EuroGentest . The new Orphanet
website also includes information on networks in which laboratories
participate .
P09.35
Genetic testing: can a consensus definition be achieved? A
survey of EuroGentest participants and website registered users
(WP3.4)
J. Pinto-Basto1 , B. Guimarães1 , E. Rantanen2 , P. Javaher3 , I. Nippert4 , H.
Kääriäinen5 , J. Schmidtke3 , U. Kristoffersson6 , J. Sequeiros1,7 ;
1 2 UnIGENe and CGPP, IBMC, Porto, Portugal, Dept Medical Genetics, Univ
Turku, Turku, Finland, 3Dept Medical Genetics, Hannover Medical School, Hannover,
Germany, 4Universitätsklinikum Münster, Münster, Germany, 5Dept Medical
Genetics, Univ Turku and National Public Health Institute, Helsinki, Finland,
6 7 Dept Clinical Genetics, Univ Hospital, Lund, Sweden, ICBAS, Univ Porto,
Porto, Portugal.
EuroGentest Unit 3 sent a questionnaire to all participants, experts,
advisory board and users of its website, to assess the need and the
feasibility of achieving a consensus definition of genetic testing or
whether this should be context-dependant .
A total of 126 questionnaires were received, from 32 countries: 58 EuroGentest
participants, experts and advisory board members, and 68
registered users of its website . Among all, 44 were physicians (24 clinical
geneticists, 20 other), 82 non-physicians (58 geneticists, 24 other
professionals - lawyers, ethicists, etc .) .
The need for a consensus definition was acknowledged by all groups,
though all were also less enthusiastic about the possibility of attaining
one (non-physician, non-geneticist professionals felt less that need,
and were more pessimistic about reaching it) . Clinical geneticists
were the most supportive for context-dependent definitions. Human
geneticists uphold that it should be best reserved for DNA/cytogenetic
testing, whereas other groups supported a wider definition. Medical
applications (and scientific research for many) should always be covered,
but most believed non-medical applications (paternity testing,
criminal identification) should not. Monogenic and susceptibility testing
gathered consensus, but about 50% thought non-disease linked polymorphisms
should be excluded . For 3/4, somatic mutations belonged
within the definition. DNA, chromosomes and gene products were almost
unanimously seen within its scope; clinical pathology, imaging/
physiologic tests, physical exams and family history were perceived by
~50% of clinical geneticists also as covered, but less so by the other
groups .
At issue, may be more the distinction between the definition of geneticmaterial
testing and of genetic information .
P09.36
IronXS: an Australian high school screening program for
haemochromatosis
S. A. Metcalfe 1 , M. Wolthuizen 2 , E. Varley 2 , V. Collins 2 , I. Macciocca 3 , M. Aitken
2 , L. Bond 1 , K. Allen 1,4 , M. B. Delatycki 1,3 ;
1 Murdoch Childrens Research Institute and Dept Paediatrics, University of
Melbourne, Parkville, Vic, Australia, 2 Murdoch Childrens Research Institute,
Parkville, Vic, Australia, 3 Genetic Health Services Victoria, Parkville, Vic, Australia,
4 Royal Children’s Hospital, Melbourne, Australia.
New research suggests that population genetic screening for hereditary
haemochromatosis (HH), an easily preventable iron overload condition,
should be reconsidered . 1 In the HaemScreen workplace-based
study 2 we found high uptake of screening (>90%) for people attending
the information session, but only 6% of those eligible actually attended
. This led us to consider other strategies for offering screening .
We report our first year of data from ironXS, a screening program for
the C282Y HFE mutation in high schools . A DVD-based information
session was presented to 3638 year 10 and year 11 students at 19
schools . 1533 students had parental consent to participate (42% of
eligible students; males:females = 45:55; mean age=15 .7yr) of whom
1359 chose testing (37 .4% overall uptake; 89% of attenders) . This revealed
7 C282Y homozygotes (1 in 194), who were invited to clinic
for genetic counselling, and 148 C282Y heterozygotes (1 in 9), who
received their result in the mail . Students completed a baseline questionnaire
(Q1) . More than 90% of students answered all the knowledge
questions correctly . A second questionnaire (Q2) was sent one month
after results were received to all homozygotes and heterozygotes and
a sample of wild-types (74% response rate) . Knowledge retention was
generally very high. There were no significant differences in general
health perception scores, risk perception and anxiety levels between
the three groups . Follow-up will include Q3 at 12 months and interviews
with students, parents and teachers . We aim to screen 9000
students in total .
1 Allen et al NEJM 2008, 2 Delatycki et al Lancet 2005
P09.37
Genetic counselling challenges with a family with HDL2: From
the bedside to the bench and back to the bedside
L. J. Greenberg;
University of Cape Town, Observatory, South Africa.
Huntington disease (HD) is a late-onset genetic disease characterised
by involuntary movements and progressive mental deterioration . The
condition was thought to be caused only by a CAG-repeat sequence in
the huntingtin gene on chromosome 4 . In 2001 however it was found
that an African American family, presenting with similar symptoms to HD
and no expansion in the HD gene, had a mutation in the junctophilin-3
gene on chromosome 16 . This condition has been named Huntington
disease like-2 (HDL2) and until recently, had only ever been reported
to be associated with individuals of Black African ethnicity .
In 2007 one family of mixed ancestry from the Western Cape in SA
was identified with HDL2. This finding came about as a result of a pilot
study of 63 persons with clinical symptoms of HD who do not carry the
HD-causing expansion . Two individuals tested positive for HDL2 ; one
that was referred for diagnostic testing in 1995 and the other in 2005 .
It was then found that in 2006, a research project had been initiated
in another research laboratory, to study this family in-depth and blood
samples had been collected from a number of additional family members
. In addition, the mother of an eleven year old child of one of the
HDL2 patients, described as a “difficult child”, had recently requested
genetic testing .
A clear distinction between clinical practice and research is not always
possible and geneticists often find themselves with discordant responsibilities
to different members of the same family .
P09.38
the Human Genetics Historical Library
P. S. Harper1 , P. Keelan2 ;
1 2 Institute of Medical Genetics, Cardiff, United Kingdom, University of Cardiff,
Cardiff, United Kingdom.
Although digitisation of historical sources represents a satisfactory solution
to the accessing of many historic scientific journals and related
works, for books, apart from a few classics, it is no substitute for availability
of the printed works; yet many institutional and personal collections
across the world are being dispersed or even destroyed .
The Human Genetics Historical Library represents an international resource,
curated by Cardiff University Library Special Collections, that
aims to create a definitive physical collection of books on or related to
human genetics, covering the 20th century . Initiated in 2004, it now
contains over 2000 volumes, almost all donated by individual workers
or institutions .
The detailed catalogue records are becoming available online via Cardiff
University Library catalogue (Voyager), http://library .cardiff .ac .uk/ ,
while an interim listing is available on the project website (www .genmedhist
.info/HumanHistLib), supported by Wellcome Trust . The books
themselves are available for consultation . Donations are welcome .
The Library, as it grows further, will become a valuable historical resource
in documenting the progress of human and medical genetics
during the course of the past century .