To address relevant issues related to the communication of genetic test
results from laboratories to clinicians, from clinicians to tested
individuals and within families, as well as to review guidelines for
predictive genetic testing and counselling.
The working group is a multidisciplinary working group with clinical and lab geneticists, neurologists, psychologists, psychiatrists and with a number of leading persons of the European Huntington's Disease Association.
Well motivated members of the European HD Network belonging to the disciplines mentioned and who were not contacted in Dresden are of course welcome to join the working group.
Aims of the working group
The first goal is the elaboration of guidelines for the communication of the number of CAG-repeats
and the implications for the future (health) of the tested person - or
fetus or embryo – as well as for the transmission to the next
generation(s), taking into account the instability of the mutation.
Special attention will be paid to reduced penetrance alleles and
In the communication issues several levels should receive attention:
communication by the molecular geneticist to the neurologist or clinical geneticist
by the neurologist or clinical geneticist to the tested person or the
persons concerned (depending on the type of test).
communication within the family.
Additional objectives related to genetic testing for HD may result from the discussions during the meeting of the working group. To
reach its goal the working group should be multidisciplinary
(neurologists, clinical geneticists, genetic counsellors, molecular
geneticists, psychologists) and involve key representatives from the
European Huntington Association.
Dr. Marina Frontali
Medical geneticist, Principal Investigator, Working Group, Lead Facilitator Istituto di Farmacologia Traslazionale, CNR
Via Fosso del Cavaliere 00133 Rome Italia
+39 06 49934222
+39 06 49934257
Dr. Rhona MacLeod
Lecturer in Medical Genetics/Consultant Genetic Counsellor Genetic Medicine St Mary's Hospital Oxford Road Manchester
M13 9WL U.K.
+44 (0)161 276 6510
+44 (0)161 276 6145
Prof.Dr. Aad Tibben
Psychologist-Psychotherapist, Working Group, Lead Facilitator Leiden University Medical Centre, Clinical Genetics and Neurology
P.O.Box 9600 2300RC Leiden Nederland
+31 71 5268033
+31 71 5266749
First workshop in Leuven on Thursday 8 - Friday 9 May 2008