2008 Barcelona - European Society of Human Genetics

Genetic counselling, education, genetic services, and public policy
P09.39
Establishing a cardiogenetic service in southern sweden
C. Lundin 1 , P. Platonov 2 , E. Hertervig 2 , B. Ekmehag 2 , O. Kongstad 2 , U. Kristoffersson
1 ;
1 Dept of Clinical Genetics, Lund, Sweden, 2 Dept of Cardiology, Lund, Sweden.
The genetic causes of several familial cardiac arrhythmias have been
established in recent years, and thus the request for molecular genetic
analyses as well as genetic counselling for these families has
emerged .
The multidisciplinary cardiogenetic service in the South Swedish
Health Care region was initiated in 2005, and the network now comprises
cardiologists, pediatric cardiologists, clinical geneticists, and
specialists in pathology and forensic medicine, respectively . Much
effort is concentrated towards education of the stakeholders and on
drawing up guidelines, whereby more uniform information and clinical
management of at-risk family members is possible . So far, two guidelines
have been completed, i . e ., regarding families with an increased
risk of hypertrophic cardiomyopathy (HCM) and long QT syndrome
(LQTS), respectively .
We have adopted the model developed for our cancer genetic service,
i .e ., most families are seen by a clinical geneticist together with a cardiologist
. This gives the possibility of discussing most aspects of the disease,
although no clinical examination or investigation is performed .
Until December 2007, 28 families have been counselled in the cardiogenetic
clinic, the majority having familial HCM (15 families) . 3 families
had LQTS, and the rest had various diagnoses . All HCM-patients with
a positive DNA analysis have had various mutations in MYBPC3 . In
LQTS, only families with a known mutation have, so far, been referred
to the cardiogenetic clinic .
The request for genetic counselling in hereditary cardiovascular diseases
is increasing, and establishing multidisciplinary networks in this
field in our health care region is essential for high quality care and
cost-effectiveness .
P09.40
should preconception genetic testing of infertile couples be
any less rigorous than for gamete and embryo donors? A case
report
C. Bancroft1,2 , T. El-Menabawey1 , M. Menabawey1 , A. H. Handyside1,2 , A. R.
Thornhill1,2 ;
1London Bridge Fertility, Gynaecology and Genetics Centre, London, United
Kingdom, 2Bridge Genoma, London, United Kingdom.
A 36 year-old man presenting with primary male infertility (oligozoospermia)
underwent in-vitro fertilisation treatment with intracytoplasmic
sperm injection and transfer of two embryos resulting in healthy
twins . The couple had surplus embryos cryopreserved, which they
subsequently elected to donate to our embryo donation programme .
To comply with Human Fertilisation and Embryology Authority (HFEA)
Code of Practice for UK gamete and embryo donors, both partners
underwent appropriate genetic screening tests, including karyotyping,
which wasn’t considered necessary when the couple were first evaluated
at their local hospital . The man carried a 13;14 balanced Robertsonian
translocation and was referred for genetic counselling .
Structural chromosome abnormalities cause infertility in both men and
women, and many fertility centres have experienced similar cases .
Owing to the increased incidence of balanced translocations among
infertile people compared with the general population it is prudent to
routinely offer preconception genetic counselling and karyotype analysis
to couples with infertility . Such measures may improve (i) infertility
diagnosis, (ii) follow-up treatment, (iii) risk assessment for future children
and (iv) pregnancy management . Furthermore, appropriate genetic
testing and evaluation may reduce numbers of failed IVF cycles,
saving patients financial, physical and emotional costs. Current UK
regulations require rigorous screening (including karyotyping) for gamete
and embryo donors . However, routine karyotyping of couples with
infertility is not UK standard practice and, this represents an inequality
in patient care . Routine karyotyping should be offered to all couples
presenting with infertility allowing them to make informed choices before
undertaking the large investment required for assisted reproduction
.
P09.41
Analysis of machado-Joseph Disease Pedigrees: Risk
Assessment and Patterns of segregation in Azorean Families
C. Bettencourt 1 , C. Santos 2 , T. Kay 3 , J. Vasconcelos 4 , M. Lima 1 ;
1 University of the Azores, Ponta Delgada - Azores, Portugal, 2 Autonomous University
of Barcelona, Bellaterra (Barcelona), Spain, 3 Hospital of D. Estefania,
Lisbon, Portugal, 4 Hospital of Divino Espirito Santo, Ponta Delgada - Azores,
Portugal.
Machado-Joseph disease (MJD) is an autosomal dominant neurodegenerative
disorder of late onset (mean 40 .5 yrs), whose causative
mutation is a CAG expansion in the ATXN3 gene, at 14q32 .1 . MJD
presents clinical heterogeneity, with differences in onset between series
of patients being reported . Since in MJD risk assessment is complicated
by age dependent penetrance, these differences will have an
impact in risk calculation for at-risk individuals who choose not to take
the genetic test . In the Azores 32 extended MJD families were identified;
in Flores Island the disease reaches the highest worldwide value
of prevalence (1:103) . Segregation ratio distortion (SRD) could be one
of the factors behind high values of prevalence . The availability of an
extended genealogical database for the affected Azorean families, associated
to the thorough follow-up of patients provided the background
to conduct a study aiming: a) to provide age dependent risk data, with
impact on Genetic Counselling (GC); b) to analyse segregation patterns
of normal and expanded ATXN3 alleles . For risk assessment, the
probability of gene expression, using onset data from 176 Azorean patients,
was calculated; a Bayesian method to compute the probability
of heterozygosity if asymptomatic at different ages was applied . Sixtytwo
sibships were selected for segregation analysis (330 meioses) .
This analysis produced mendelian ratios, not supporting the presence
of SRD for expanded alleles . Globally, results obtained will allow a
higher accuracy of risk assessment, an essential component of GC,
which is critical for the decision making of at risk individuals, namely
for reproductive choices .
P09.42
science and technology in the muslim World: the challenges
A. I. Al-Aqeel;
Riyadh Military Hospital/ King Faisal Specialist Hospital, Riyadh, Saudi Arabia.
Muslim nations must take a big leap forward in developing science
and technology to catch up with the rest of the world. But to flourish,
science and technology need a cultural base that can only be acquired
by science education, with an ethical background, and by undertaking
research programmes . This effort requires that the mentality of political
leaders must change to show more of a commitment to science between
the 57 Islamic countries .
Saudi Arabia, Qatar and Kuwait spend about 0 .2% of their gross domestic
product (GDP) on science - less than one-tenth of the developed
country average of 2 .3% . The Emir of Qatar has created an endowment
that generates millions of dollars in research funding every
year . Saudi Arabia is making a slow start, having approved a new national
science and technology development plan in 2002 . Both Saudi
Arabia and Kuwait are each investing around $2 billion in higher education
institutes that include research centers .
Inherited Genetic diseases are prevalent in the Muslim World . We will
address the preventive health aspects of genetic problems in the Muslim
world and provide guidelines to prioritize preventive strategies . Applications
of various novel genetic techniques such as comprehensive
neonatal screening, high throughput heterozygote detection, and pre
implantation genetic diagnosis are discussed.
in conclusion; from the various genetic techniques available, each
country should adopt strategies most suitable to its genetic needs and
should prioritize the programs to be used in prevention, in the presence
of the challenges of having resources and expertise, among others .
P09.43
Bases for genetic counselling in melanoma: benefits of specific
surveillance programme
S. Puig 1,2 , J. Puig Butille 1,2 , F. Cuellar 1 , S. Kroemer 1 , C. Badenas 1,2 , C. Carrera 1 ,
P. Aguilera 1 , M. González 1 , P. Iglesias 1 , D. Gabriel 1 , M. Mila 1,2 , J. Malvehy 1,2 ;
1 IDIBAPS/HOSPITAL CLINIC, Barcelona, Spain, 2 Centro Investigación Biomédica
en Enfermedades Raras (CIBERER), ISCIII., Barcelona, Spain.
Introduction: CDKN2A and CDK4 are two major susceptibility genes
for melanoma (MM) . Other genes involved in melanoma susceptibility