Literature DB >> 17352941

Predictive testing for Huntington's disease.

Aad Tibben1.   

Abstract

Worldwide, predictive testing for Huntington's disease has become an accepted clinical application that has allowed many individuals from HD-families to proceed with their life without the uncertainty of being at risk. International guidelines have extensively contributed to establishing counselling programmes of high quality, and have served as a model for other genetic disorders. Psychological follow-up studies have increased the insight into the far-reaching impact of test results for all individuals involved. Although the guidelines have served as a useful frame of reference, clinical experience has shown the importance of a case-by-case approach to do justice to the specific needs of the individual test candidate. Issues such as ambiguous test results, lack of awareness in a test candidate of early signs of the disease, non-compliance to the test protocol, or the test candidate's need for information on the relationship between age at onset and CAG-repeat require careful consideration. Receiving a test result is only one of the transition points in the life of an individual at risk; such result needs to be valued from a life-cycle perspective.

Entities:  

Mesh:

Year:  2006        PMID: 17352941     DOI: 10.1016/j.brainresbull.2006.10.023

Source DB:  PubMed          Journal:  Brain Res Bull        ISSN: 0361-9230            Impact factor:   4.077


  40 in total

1.  Genetics Health Professionals' Views on Quality of Genetic Counseling Service Provision for Presymptomatic Testing in Late-Onset Neurological Diseases in Portugal: Core Components, Specific Challenges and the Need for Assessment Tools.

Authors:  M Paneque; Á Mendes; L Guimarães; J Sequeiros; H Skirton
Journal:  J Genet Couns       Date:  2014-11-04       Impact factor: 2.537

Review 2.  Therapy in Huntington's disease: where are we?

Authors:  Martha A Nance
Journal:  Curr Neurol Neurosci Rep       Date:  2012-08       Impact factor: 5.081

3.  Huntington disease: families' experiences of healthcare services.

Authors:  Heather Skirton; Janet K Williams; J Jackson Barnette; Jane S Paulsen
Journal:  J Adv Nurs       Date:  2010-03       Impact factor: 3.187

4.  Personal factors associated with reported benefits of Huntington disease family history or genetic testing.

Authors:  Janet K Williams; Cheryl Erwin; Andrew Juhl; James Mills; Bradley Brossman; Jane S Paulsen
Journal:  Genet Test Mol Biomarkers       Date:  2010-08-19

Review 5.  How communication of genetic information within the family is addressed in genetic counselling: a systematic review of research evidence.

Authors:  Álvaro Mendes; Milena Paneque; Liliana Sousa; Angus Clarke; Jorge Sequeiros
Journal:  Eur J Hum Genet       Date:  2015-08-12       Impact factor: 4.246

6.  New measures to capture end of life concerns in Huntington disease: Meaning and Purpose and Concern with Death and Dying from HDQLIFE (a patient-reported outcomes measurement system).

Authors:  N E Carlozzi; N R Downing; M K McCormack; S G Schilling; J S Perlmutter; E A Hahn; J S Lai; S Frank; K A Quaid; J S Paulsen; D Cella; S M Goodnight; J A Miner; M A Nance
Journal:  Qual Life Res       Date:  2016-07-08       Impact factor: 4.147

7.  Couples' coping in prodromal Huntington disease: a mixed methods study.

Authors:  Nancy R Downing; Janet K Williams; Anne L Leserman; Jane S Paulsen
Journal:  J Genet Couns       Date:  2012-01-26       Impact factor: 2.537

8.  Introduction to the special issue: psychological aspects of genomics and child health.

Authors:  Kenneth P Tercyak
Journal:  J Pediatr Psychol       Date:  2008-12-06

9.  Fair allocation of health-care resources: finding a model that does not disenfranchise users of genetic services. A commentary on Rogowski et al....

Authors:  Heather Skirton
Journal:  Eur J Hum Genet       Date:  2013-08-07       Impact factor: 4.246

Review 10.  Genetic testing and common disorders in a public health framework: how to assess relevance and possibilities. Background Document to the ESHG recommendations on genetic testing and common disorders.

Authors:  Frauke Becker; Carla G van El; Dolores Ibarreta; Eleni Zika; Stuart Hogarth; Pascal Borry; Anne Cambon-Thomsen; Jean Jacques Cassiman; Gerry Evers-Kiebooms; Shirley Hodgson; A Cécile J W Janssens; Helena Kaariainen; Michael Krawczak; Ulf Kristoffersson; Jan Lubinski; Christine Patch; Victor B Penchaszadeh; Andrew Read; Wolf Rogowski; Jorge Sequeiros; Lisbeth Tranebjaerg; Irene M van Langen; Helen Wallace; Ron Zimmern; Jörg Schmidtke; Martina C Cornel
Journal:  Eur J Hum Genet       Date:  2011-04       Impact factor: 4.246

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