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J3 Changing standard procedure for predictive testing for huntington’s disease in our clinic lead to an improved counselling process
  1. Corien Verschuuren-Bemelmans,
  2. Rein Stulp,
  3. Tine Tijmstra
  1. University of Groningen, University Medical Centre Groningen, Departement of Genetics, Groningen, The Netherlands

Abstract

Background Predictive testing for Huntington’s disease (HD) is possible since the determination of the gene in 1993. Because of the untreatable nature of the disease, predictive testing requires careful thought. International guidelines for predictive testing were already published by the IHA in 1994.

Since then in our department, and most of the Netherlands, the counselling process was done in 3 policlinic visits and telephone follow-up. Of course this was not a rigid procedure and prolonged counselling was always possible but because of the ahead of time described procedure to the patient and the large area we cover, individuals did not come back to the policlinic often.

In case of a prolonged repeat the third visit to our clinic was very complex because of the coping with the result and the giving of the posttest information (which in the last 10 years expanded). The care for ambulatory Huntington patients in The Netherlands improved by the start of a coordinated multidisciplinary care facility nearby (Grou). The REGISTRY EHDN and later Enroll-HD was introduced. Exclusion Pre-implantation Genetic Diagnostic was allowed in The Netherlands. This makes posttest counselling more complex.

Aim After publication of the revised guidelines in 2012, we discussed in our team how we could implement the new guidelines and improve our counselling procedure.

Method We introduced a standard fourth policlinic visit in the procedure in case of prolonged repeat approximately 4 to 6 weeks after revealing the test result.

Results Although families are well aware of the procedure we had for 15 years, no complaints came about the extra visit to the policlinic. Counsellor satisfaction about the fact that the main focus of the third visit is about the test result. Less unanswered questions and follow up visit with the social worker because many issues could be addressed at the fourth visit.

Conclusion In our experience a predictive test procedure with at least 4 visits to the policlinic provides good genetic counselling.

  • predictive genetic testing
  • counselling
  • guidelines

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