OBJECTIVES
To describe the consequences of the
identification of the Huntington's disease (HD) mutation on predictive and prenatal testing.
METHODS
A retrospective study was performed considering the test applicants,
procedures, and results before and after the identification of the mutation. 1032 people at risk for Huntington's disease
in The Netherlands were included, of whom 741 applied for the predictive test in the period 1987 to 1997 in Leiden at the
Department of Clinical Genetics, and after 1994, also in the other seven clinical genetics departments in The Netherlands.Uptake,
sociodemographic variables, and test results, taken before and after the mutation was identified, are described.
RESULTS
The uptake of the predictive test in
the period studied was 24% and for the prenatal test 2%. No differences were noted in numbers and sociodemographic data between
the period before and after the mutation was identified.
After an initial increase in test applicants, a decrease was seen after 1995. After 1993 a significant
increase of 25% at risk test applicants and a significant decrease of prenatal exclusion tests was noticed. Only 7% asked
for reassessment by mutation analysis. |
New problems arose after the identification of the mutation, such as the option of reassessing the
risk obtained by linkage analysis, direct mutation testing of 25% at risk persons with
a parent who does not wish to know, new choices regarding reproduction, and new uncertainties for
carriers of intermediate and reduced penetrance alleles and for their offspring and relatives.
CONCLUSIONS
Although predictive testing
has become reliable and available for every person at risk since the mutation has been identified,
the uptake of predictive and prenatal tests fell short of expectation, no change in socio-demographic
variables was seen, and a decrease in number of applicants was noted. Furthermore, new uncertainties, psycho-logical problems,
and questions arose.
Source/Authors
J Neurol Neurosurg Psychiatry 2000;69:579-583 ( November )A Maat-Kievita, M Vegter-van der Vlisa,
M Zoeteweija, M Losekoota, A van Haeringena, R Roosc at Department of Clinical Genetics, Leiden
University Medical Centre, PO Box 9600, 2300 RC Leiden, The Netherlands, b Department of Human Genetics, Department of Neurology |
