Education And Debate Personal paper

Late onset genetic disease: where ignorance is bliss, is it folly to inform relatives?

BMJ 1998; 317 doi: http://dx.doi.org/10.1136/bmj.317.7160.744 (Published 12 September 1998) Cite this as: BMJ 1998;317:744
  1. Jon Torgny R Wilcke ([email protected]), senior registrar
  1. Department of Cardiology B, Rigshospitalet 2151, DK-2100 Copenhagen ⊘, Denmark

    One aspect of the rapid advances in molecular genetics is the capacity to identify genetic predispositions in a particular individual, where previously we made risk assessments based on aggregate or population observations. 1 2

    Specific genetic data on one person unavoidably involve the family. They reveal information not only about the person examined but about their relatives and future children, who may be sick or carriers of the disease or trait. The proband, the family, and the genetic counsellor are faced with the problem of communicating news of the high risk for a genetic disease to healthy (asymptomatic) family members. They are also faced with making a moral choice between the right of family members to be privy to this information and their right to “blissful ignorance.”

    Summary points

    • Knowledge of a genetic disease in an individual raises issues of whether and how this information should be communicated to his or her family

    • The strategy for approaching and informing at risk relatives should depend on the genetic disease—on whether an unfavourable outcome is avoidable or not

    • The initial approach to relatives should be made by the proband and be supported by information from a genetic counsellor

    • The proband and counsellor have an obligation to ensure that relatives are informed about the risk of severe, preventable genetic disease

    Moral obligations and ethical questions

    Most genetic counsellors believe that family members have a moral obligation to share genetic information with each other.3 Many counsellors also believe that an uninvited approach to relatives at risk for a genetic disease is ethically questionable, irrespective of the disease. The Danish Ethics Council recently stated that “no unsolicited approach may be made by the health authorities in the case of an examination that may show any hereditary disease in the family. This should also be the case in situations where it can …

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