Aims

This WG is multidisciplinary (neurologists, clinical geneticists, genetic counsellors, molecular geneticists, psychologists) and involves key representatives from the European Huntington Association
Our main goal is to facilitate best practice of genetic counselling for families affected by Huntington’s Disease.
This may include review and update of guidelines and recommendations in relation to genetic counselling and testing for Huntington’s Disease based on discussion of challenging ethical and legal cases and on scientific literature review.
The working group would like to provide support and training for EHDN members in relation to genetic counselling issues.

The topics for sub-group projects link to recommendations for practice.
This includes:

  • Reproductive decision-making
  • Pre-symptomatic testing
  • Diagnostic testing
  • Talking to children about HD
  • Models of support post predictive testing
  • CAG-repeat size and transmission to the next generation
  • Cultural diversity in genetic counselling practice

Projects

Previous Projects

  • Predictive Test Recommendations Review
  • Successful seed fund application for Genetic Counselling Narrative Study
  • Successful seed fund application for WG project on Intermediate Alleles
  • Contribution to the Young Adult Working Group Predictive Testing Checklist

Ongoing projects

  • Contribution to EHDN newsletter
  • Providing clinical practice breakfast teaching session at EHDN Plenary meeting
  • Planned audit of predictive test guidelines
  • Informing predictive testing recommendations for other neurodegenerative disease using HD as an exemplar
  • Review of literature on Intermediate Alleles

Future projects

  • Sub-group on recommendations for reproductive choices
  • How might the predictive testing process alter in the future with HD therapies.
  • Contribution to Incidental Findings task force
  • Possible introduction of genetic modifiers risk into genetic counselling working group.

Publications

MacLeod R, Tibben A, Frontali M, Evers-Kiebooms G, Jones A, Martinez-Descales A, Roos RA; Editorial Committee and Working Group ‘Genetic Testing Counselling’ of the European Huntington Disease Network. Recommendations for the predictive genetic test in Huntington’s disease. Clin Genet. 2013 Mar;83(3):221-31. PMID: 22642570.

Craufurd D, MacLeod R, Frontali M, Quarrell O, Bijlsma EK, Davis M, Hjermind LE, Lahiri N, Mandich P, Martinez A, Tibben A, Roos RA; Working Group on Genetic Counselling and Testing of the European Huntington’s Disease Network (EHDN). Diagnostic genetic testing for Huntington’s disease. Pract Neurol. 2015 Feb;15(1):80-4. doi: 10.1136/practneurol-2013-000790. Epub 2014 Aug 28. PMID: 25169240.

Contact

Lead Facilitators:
Dr Rhona MacLeod,
Consultant Genetic Counsellor and Honorary Senior Lecturer
Manchester Centre for Genomic Medicine
St Mary’s Hospital, Manchester M20 6PN

Dr Nayana Lahiri,
Consultant Clinical Geneticist & Honorary Senior Lecturer
St. George’s University Hospitals NHS Foundation Trust
Blackshaw Road, Tooting London UK SW17 0RE

Associated EHDN Language Area Coordinator:
Eric Decorte, EHDN Lanco, France