The Southwest of Scotland Structural Chromosomal Abnormalities Database: an assessment of its contribution to genetic counselling in affected families.
Genet Couns
; 14(2): 187-94, 2003.
Article
in En
| MEDLINE
| ID: mdl-12872813
ABSTRACT
AIM:
To assess the effect of establishing a genetic database on the provision of genetic counselling to individuals and families with structural chromosomal abnormalities.METHOD:
For the four year period 1997-2000, we compared all cytogenetics laboratory records with entries on the database to determine its completeness. We assessed the extent to which families had been followed up, compared these findings with a previous four year period (1977-1980) and sought to discover why some families were not followed up.RESULTS:
Of 215 probands identified during 1997-2000, 19 (9%) were not recorded on the register. Approximately one third of families were followed up completely, one third were partially followed up and one third had had no follow-up, for a variety of reasons. In this last group, there was evidence that some had received inadequate or incorrect genetic advice. There was no evidence that the database improved follow-up in families with structural chromosome abnormalities. Over 20 years, there has been a downward trend in the proportion of cases referred to the genetic clinic.CONCLUSIONS:
Our register can be used to monitor trends in clinical practice but has had no direct effect on the service provided to patients and their families.
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Collection:
01-internacional
Database:
MEDLINE
Main subject:
Registries
/
Chromosome Aberrations
/
Databases, Genetic
/
Genetic Counseling
/
Genetic Diseases, Inborn
Type of study:
Incidence_studies
/
Observational_studies
/
Prognostic_studies
/
Risk_factors_studies
Limits:
Humans
Country/Region as subject:
Europa
Language:
En
Journal:
Genet Couns
Journal subject:
ETICA
/
GENETICA MEDICA
Year:
2003
Document type:
Article
Affiliation country:
Reino Unido