Letting the family know: balancing ethics and effectiveness when notifying relatives about genetic testing for a familial disorder.
J Med Genet
; 43(8): 665-70, 2006 Aug.
Article
em En
| MEDLINE
| ID: mdl-16371501
ABSTRACT
OBJECTIVE:
To increase the awareness among at risk relatives of the availability of genetic testing for a familial disorder while respecting their autonomy and privacy.METHODS:
This was a comparison of preintervention and postintervention cohorts of families carried out in a state wide clinical service providing genetic counselling and testing for people at risk of familial adult onset cancer. Unaffected relatives who were not clients of the service in 74 kindreds with familial mutations causing familial breast and ovarian cancer, hereditary non-polyposis colorectal cancer, or Cowden syndrome were included in the study. In the baseline cohort (41 kindreds), family members who were clients of the clinical service and had been shown to be carriers of mutations were asked to advise relatives that genetic testing was available. In the intervention cohort (33 kindreds), the clinical service obtained consent to advise at risk relatives by letter that genetic testing was available. The main outcome measures were (a) proportion of unaffected first and second degree relatives of the proband in each family whose genetic status was clarified within 2 years of the mutation being identified in the family, and (b) concerns regarding privacy and autonomy voiced by relatives receiving these letters.RESULTS:
In the baseline cohort, the average proportion of relatives in each family whose genetic status was clarified was 23%. In the intervention cohort, the average proportion of relatives in each family whose genetic status was clarified was 40% (p = 0.001). None of the relatives in the intervention cohort complained of a breach of privacy or autonomy.CONCLUSION:
Clinical services can take an effective and proactive approach to notifying relatives who are not their clients of the availability of genetic testing without compromising principles of privacy and autonomy.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Testes Genéticos
/
Saúde da Família
/
Ética Clínica
/
Doenças Genéticas Inatas
Tipo de estudo:
Etiology_studies
/
Incidence_studies
/
Observational_studies
/
Prognostic_studies
/
Risk_factors_studies
Limite:
Adolescent
/
Humans
Idioma:
En
Revista:
J Med Genet
Ano de publicação:
2006
Tipo de documento:
Article
País de afiliação:
Austrália