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

Genetic counselling, education, genetic services, and public policy
P1343. Developing family route maps - A tool to help access
information and services for families with genetic conditions
A. Allford, M. C. Winter;
Genetic Interest Group (patient organisation), London, United Kingdom.
AIM: To explore information and services currently available to families
with six rare genetic disorders as the first stage in the development of
Family Route Maps designed to signpost information and guide patients,
families and carers through the available appropriate services
within the UK.
METHODS: Focus Groups and supplemental interviews with patients
belonging to Support Groups as well as interviews with health professionals
who specialise in these conditions. An online patient questionnaire
is also available to widen patient participation.
SUMMARY: Common themes were identified and seven clear categories
emerged: Information;Communication; Education of Healthcare
professionals; Diagnosis of rare genetic disorders; Empowering patients
and parents/carers; Ethical, Legal and Social issues; and, Treatment
& Surveillance of patients and families with rare genetic disorders.
In addition to providing future practical guidance to people with the
named disorders, the project has: Produced a generic Route Map template
which can be used for other genetic conditions; Identified several
themes common to all the groups involved; Highlighted the real
needs and concerns expressed by patients and their families; Raised
awareness amongst clinicians of the necessity for clear care pathways
to help patients living with rare and sometimes life-threatening conditions,
with the aim of a protocol for support, monitoring and treatment.
DISCUSSION: The themes have far-reaching implications for health
service provision for people with genetic disorders, sharing the findings
with health care professionals as well as patients is essential.
P1344. The Italian External Quality Control (I-EQC) Programme
for Beta Thalassemia molecular diagnosis: five years of activity
F. Tosto, V. Falbo, M. Salvatore, G. Floridia, F. Censi, D. Taruscio;
Istituto Superiore di Sanità, Rome, Italy.
β-Thalassemia (βT) is one of the most common single gene disorders
and is prevalent in the Mediterranean region, the Middle East, the Indian
subcontinent and East Asia. Frequency of the disease may vary
widely, depending on the ethnic population. The highest incidences are
reported in Cyprus (14%) and Sardinia (12%) (1).
Approximately 200 different molecular defects affecting the β--globin
gene (HBB, 11p15.5 - OMIM 141900) have been reported.
Molecular genetic testing of HBB is available and may be useful for
prediction of the clinical phenotype, presymptomatic diagnosis of atrisk
family members and prenatal diagnosis.
The I-EQC Programme for βT is performed within the National Project
for the standardization and quality assurance of genetic tests (2).
Five trials have been performed from 2001 to 2006 (one per year);
11/12, 14/14, 16/16, 16/16 and 18/18 are the respondent versus enrolled
public laboratories (75% of Italian public laboratories) (3).
Genotyping results indicate a general good level of quality; 900 alleles
were analysed in five years. About 98.8% of them was correctly assigned;
0.6% was wrongly genotyped.
Methods predominantly used to detect mutations were RDB, ARMS,
DGGE and sequencing of DNA.
Reporting of results is still inadequate although a new form for the written
reports was introduced in 2004.
Funded by: “Progetto nazionale per la standardizzazione e l’assicurazione
di qualità dei test genetici”, Ministry of Health (Rome).
1. Cao and Galanello, N Engl J Med 347(15), 2002;
2. Taruscio et. al., CCLM, 42(8):915-21 2004;
3. Dallapiccola et al., Analysis, 2006
P1345. Definitions of Genetic Testing vary widely among
international institutions and professional and other
organizations (EuroGentest WP3.4)
J. Sequeiros 1,2 ;
1 IBMC, Porto, Portugal, 2 ICBAS, Porto, Portugal.
This work resulted from the very first of the EC Expert Group “25 Recommendations
on the Ethical, Legal and Social Implications of Genetic
testing”. It aimed at contributing towards the discussion of a consensus
definition and its global applicability.
We collected 153 documents, from 77 European and international in-
stitutions, national health associations, regulating and research funding
agencies, professional organizations, civic and ethics bodies, pharmaceutical
and insurance industry.
Definitions ranged from being strictly synonymous to DNA-based testing,
to any source that can provide unambiguous genetic information.
They may or not bridge different applications, contexts, mutations and
material analysed. Pharmacogenetics, somatic mutations, population
screening, or even carrier testing and caryotyping were included only
sometimes; while non-medical or research applications, identity testing
and sources other than genetic material (other tests, physical exam,
family history) are seldom covered. Some trends could be found when
comparing different professional organizations or among countries
and cultures (geneticists vs. pathologists, insurers vs. human rights
and patient interest-groups, ethical bodies vs. commercial labs, Europe
vs. USA). E.g., the ASHG definition covers only tests in DNA and
specific gene-products, while the ESHG includes also caryotyping and
all sources of genetic information.
We conclude that a consensus definition that could be globally developped
and applicable is probably impossible, and that there should be
instead several context-dependent and/or working definitions, according
to the purposes aimed. While methodology is irrelevant, information
content (genetic information) and/or the genetic material analysed
(DNA-based and cytogenetic testing) may serve different motivations
for genetic testing. This has practical implications in the scope and
competences among different professionals, for oncogenetics, pharmacogenetics
and forensic genetics, regulation of health activities, private
labs, health economics and policies, insurance, reimbursement
of costs and anti-discrimination policies. All this, in turn, will reflect on
national and international legislation, either in practice or to be developed.
P1346. Patient’s and doctor’s attitude to genetic testing for
common disease predisposition
V. V. Pogrebenkova, O. A. Makeeva, L. I. Minaicheva, V. P. Puzyrev;
Tomsk Research Institute of Medical Genetics, Tomsk, Russian Federation.
Developing tools in genetic testing for common diseases demand
for careful examination of what people and health care professionals
know and expect from new technologies.
100 doctors and 100randomly selected people from general rural
population (Tomsk,Russia) were studied in respect to their attitude
to genetic testing for diseases predisposition with the help of special
questionnaires.
It was revealed that 78% of respondents would like to determine
the risk for diseases with genetic predisposition. The main reasons
to undergo such investigation were people’s concern about their
health(43%), doctor’s recommendation(21%), and curiosity(20%). If
the elevated risk for any of common diseases would be diagnosed
than 88% of people would change their habits and only 12% would
not change anything. The desire of people to evaluate their own risk of
probable diseases did not depend from the level of education, but last
seriously affected the people’s awareness about new genetic tools.
Positive attitude to a suggestion to undergo genetic testing for disease
predisposition can be influenced by current patient’s health status -
most of people(75-80%) whom self-reported health was “excellent”,
“good” or “normal”would like to be tested whereas in a group who defined
their health status as “unsatisfactory” only 50% expressed their
wish to be tested genetically.
93%of doctors considered future opportunities with genetic testing to
be useful for the purpose of prophylaxis-33%, more accurate definition
of patient’s diagnoses(47%), and in adjusting patient’s management(17%).
95% of responded doctors were sure that results of genetic
testing would be useful to persuade their patients to change life
style with the aim of prophylaxis.
The results of that study have shown the considerable interest of both
patients and doctors for arising new genetic technologies in the sphere
on common disease predisposition testing, positive attitude of both
groups as well as the need of education in that sphere.
P1347. Information on genetic testing in Europe : successes and
difficulties
C. Gaudebout 1 , V. Thibaudeau 1 , M. A. Morris 2 , E. Dequeker 3 , A. Corveleyn 3 ,
B. Dallapiccola 4 , R. Mingarelli 4 , J. Schmidtke 5 , K. Rommel 6 , D. Donnai 7 , E. Gillaspy
7 , B. Urbero 1 , S. Aymé 1 ;
2