2008 Barcelona - European Society of Human Genetics

Genetic counselling, education, genetic services, and public policy
testing is offered free of charge to the relatives of babies diagnosed
with CF through the newborn screening program . Although cascade
testing is known to detect carriers of CF, its effectiveness has been
questioned, in our clinical service and elsewhere, because most babies
with CF are born to couples who do not have a family history;
the uptake of cascade testing following a child’s diagnosis of CF by
newborn screening has not been previously reported .
We investigated CF cascade testing in the families of Victorian children
with CF . We studied the uptake of cascade carrier testing by examining
53 pedigrees of newborns diagnosed with CF between 2001 and
2004, and performing data linkage to the laboratory database records .
The uptake of carrier testing amongst adult first and second degree
relatives was 16% (190/1160) . Parents were the most likely relatives to
have been tested, followed by aunts/uncles, then grandparents .
We conclude that cascade testing, as currently offered, is not an effective
strategy for detecting carriers for CF . An alternative is to offer
population-based screening and this occurs in some countries but with
quite variable uptake reported. Factors influencing uptake of CF carrier
testing need to be explored . We are now conducting an evaluation of
the barriers and facilitators to cascade testing to inform both clinical
service delivery and population-based CF screening programs .
P09.13
Facing choices about genetic testing and assisted reproduction:
developing an integrated care pathway to help health
professionals meet the needs of infertile men with cystic
Fibrosis (cF) and congenital bilateral absence of the vas
deferens (cBAVD)
A. Edwards 1 , C. Phelps 2 , A. Procter 1 , I. Ketchell 3 ;
1 All Wales Medical Genetics Service; Institute of Medical Genetics, University
Hospital of Wales, Cardiff, United Kingdom, 2 Institute of Medical Genetics,
Cardiff University School of Medicine, Cardiff, United Kingdom, 3 Adult Cystic
Fibrosis Unit, Cardiff and Vale NHS Trust, Cardiff, United Kingdom.
Background The choices offered by assisted reproductive technologies
(ART) and preimplantation genetic diagnosis (PGD) mean that
genetics services need to be better integrated into the care pathway
of infertile men with CF/CBAVD . This study explored how multidisciplinary
healthcare professionals in one UK NHS Trust believe genetics
services can be integrated into a common care pathway .
Methods Three focus groups were convened with health professionals
involved in the care of men with CF/CBAVD (representing genetics,
adult respiratory medicine, paediatrics, assisted reproduction and urology).
The first two groups (5 & 7 participants respectively) explored
awareness of genetics, ART and PGD . Concerns and training needs
were identified. Following patient interviews, a final focus group was
convened to identify a common care pathway .
Results . Much uncertainty existed amongst non-genetics specialisms
regarding the role of genetics services in the CF/CBAVD care pathway.
A lack of confidence was evident when talking about the genetics
of CF/CBAVD, ART and PGD . Common concerns related to when to
raise these issues and how to deal with parental pressure . Participants
felt that although the in-depth discussion of these issues should be the
main responsibility of the genetics service, their own basic knowledge
could be enhanced .
Conclusions . There is a need for improved information exchange about
the genetics of CF/CBAVD and assisted reproductive options between
specialisms . Genetics services can improve awareness and become
better integrated into the existing care pathway by facilitating professional
workshops and training sessions, and producing leaflets and
referral guidelines . An integrated care pathway is being developed .
P09.14
challenges in establishing a population carrier screening
program for cystic fibrosis
A. Bankier 1 , M. Delatycki 2 , J. Massie 3 , R. Forbes 2 , B. Chong 1 , D. DuSart 1 , V.
Petrou 2 ;
1 Victorian Clinical Genetics Services, Parkville, Australia, 2 Genetic Health
Services Victoria, Parkville, Australia, 3 Royal Children’s Hospital, Parkville,
Australia.
Cystic fibrosis is the commonest life shortening autosomal recessive
condition among Caucasians due to mutations in the CFTR gene . The
carrier frequency in this population is 4% with a disease incidence of
1:2,500 . Carriers are healthy and the majority of people are unaware
of their carrier status . More than 95% of babies born with CF have no
family history of CF . Most parents who have a child with CF elect to
utilise reproductive technology for subsequent pregnancies by either
prenatal diagnosis (PND) or pre-implantation genetic diagnosis (PGD) .
The US National Institutes of Health and American College of Obstetricians
and Gynecologists recommend offering CF carrier testing to all
couples .
We have introduced a fee paying prenatal screening program, initially
offered through obstetricians in the private sector . Sampling is by
cheek brush, testing for the twelve most common severe mutations in
CFTR. In the first two years of the program 2975 people were screened
of whom 64 were carriers (1:46) and 6 carrier couples (~1:500) were
identified all of whom chose either PND if pregnant or PGD if non-pregnant
at the time of testing .
The challenges and difficulties faced include difficulties of educating
health care professionals and the public about CF, the requirement for
sample recollection in 2 .2% of patients screened, the correct collection
procedure, patient anxiety regarding not being offered screening until
pregnant, reluctance of health professional to offer screening primarily
due to time constraints and equity of care when screening is currently
only offered in the private health sector .
P09.15
EuroGentest medical Genetics Quality Assurance Database
L. Desmet 1,2 , A. Corveleyn 1,2 , N. Nagels 1,2 , V. Lanneau 3 , I. Caron 3 , B. Urbero 3 ,
S. Aymé 3,2 , E. Dequeker 1,2 , M. A. Morris 4,2 ;
1 Department for Human Genetics, Leuven, Belgium, 2 EuroGentest, Leuven,
Belgium, 3 Orphanet, Paris, France, 4 Service of Genetic Medicine, Geneva,
Switzerland.
The outcome of genetic testing has a great impact on the life of patients
and their entourage . The quality of genetic testing is thus of
utmost importance . In July 2007, EuroGentest released a European
Quality Assurance (QAu) database in collaboration with Orphanet, with
reliable public information about the quality systems of laboratories
offering medical genetic testing (http://www .eurogentest .org/web/qa/
basic .xhtml) . The database contains at present data from about 230
laboratories of 32 countries .
These data comprise besides laboratory contact details and a link to
the Orphanet laboratory page, information about the quality manager,
the accreditation status with a link to the accreditation scope if applicable,
and about participation in genetic EQA schemes .
During 2004 and 2005, 152 of the 230 laboratories (66%) participated
together in 87 different EQA schemes; mainly for CF testing (51%
of the EQA participating laboratories), DNA sequencing (34%) and
FRAXA (31%) . Of the laboratories participating in EQA, 28% are also
accredited according to standards ISO 17025 or ISO 15189 . Another
23% of laboratories are preparing for accreditation in the near future .
The EuroGentest QAu database allows consumers (laboratories, doctors,
etc) to identify a laboratory with a quality system for a particular
diagnostic test. It benefits laboratories by encouraging and providing
recognition of their investment in QAu as well as by giving them a better
informed choice for referral of tests .
The database will be continually updated and participation in the database
is freely open to all European laboratories offering human medical
genetic testing . For more information, please contact QAusurvey@
eurogentest .org .
P09.16
Definitions of genetic testing in European and other national
legislation (EuroGentest WP3.4)
O. Varga1,2 , J. Sequeiros1,3 ;
1 2 IBMC, Porto, Portugal, School of Public Health, Faculty of Public Health, UD
MHSC, Debrecen, Hungary, 3ICBAS, Porto, Portugal.
We are comparing definitions of genetic testing among legislation from
European institutions and individual Member States, as well that produced
in the USA, Canada, Japan and Australia .
Investigation is based on documents collected from websites and databases,
including governmental sources, as well as that gathered
within WP3 .1 and the series European Ethical-Legal Papers, being
published by EuroGentest Unit 6 .
We checked the present status and validity of all legislation used: only
those still in force will be analyzed and compared; when validity check
is currently not possible, due to unavailability or language incompat-