Literature DB >> 1386046

Presymptomatic testing for late-onset genetic disorders: lessons from Huntington's disease.

D M Ball1, P S Harper.   

Abstract

Huntington's disease is an inherited, neurodegenerative disorder, usually of adult onset. Since the identification of linked markers, more than 1000 presymptomatic tests have been performed worldwide and multiple ethical issues have been encountered in relation to informed consent, testing of children, exclusion testing during pregnancy, and confidentiality. Further ethical problems are anticipated after identification of the causal mutation (or mutations). As Huntington's disease is a model for other disorders of adult onset for which testing is becoming possible, the successful resolution of these ethical issues is of great importance. A failure to do so might discredit genetic testing as a whole.

Entities:  

Keywords:  Genetics and Reproduction

Mesh:

Year:  1992        PMID: 1386046     DOI: 10.1096/fasebj.6.10.1386046

Source DB:  PubMed          Journal:  FASEB J        ISSN: 0892-6638            Impact factor:   5.191


  3 in total

1.  A model protocol evaluating the introduction of genetic assessment for women with a family history of breast cancer.

Authors:  J Gray; K Brain; P Norman; C Anglim; L France; G Barton; L Branston; E Parsons; A Clarke; J Sampson; E Roberts; R Newcombe; D Cohen; C Rogers; R Mansel; P Harper
Journal:  J Med Genet       Date:  2000-03       Impact factor: 6.318

Review 2.  Population genetic testing for cancer susceptibility: founder mutations to genomes.

Authors:  William D Foulkes; Bartha Maria Knoppers; Clare Turnbull
Journal:  Nat Rev Clin Oncol       Date:  2015-10-20       Impact factor: 66.675

Review 3.  Huntington's disease predictive testing: the case for an assessment approach to requests from adolescents.

Authors:  J Binedell; J R Soldan; J Scourfield; P S Harper
Journal:  J Med Genet       Date:  1996-11       Impact factor: 6.318

  3 in total

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