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Main goal

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 intermediate alleles.

In the communication issues several levels should receive attention:
  • communication by the molecular geneticist to the neurologist or clinical geneticist
  • communication 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.
Lead facilitators:
Dr. Marina Frontali
Medical geneticist, Principal Investigator, Working Group, Lead Facilitator
Istituto di Farmacologia Traslazionale, CNR
Postal address: Via Fosso del Cavaliere
00133 Rome
Italia
phone: +39 06 49934222
fax: +39 06 49934257
e-mail: 
 
Dr. Rhona MacLeod
Lecturer in Medical Genetics/Consultant Genetic Counsellor Genetic Medicine
St Mary's Hospital Oxford Road Manchester
Postal address: M13 9WL
U.K.
phone: +44 (0)161 276 6510
fax: +44 (0)161 276 6145
e-mail: 
Prof.Dr. Aad Tibben
Psychologist-Psychotherapist, Working Group, Lead Facilitator
Leiden University Medical Centre, Clinical Genetics and Neurology
Postal address: P.O.Box 9600
2300RC Leiden
Nederland
phone: +31 71 5268033
fax: +31 71 5266749
e-mail: 
First workshop in Leuven on Thursday 8 - Friday 9 May 2008

Second workshop in Lisbon on Thursday 4 September 9.00-18.00

Third workshop in Rome on Thursday 11-Friday 12 June 2009
 

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