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Primary prevention of neurological illness early in life
  1. Angus Clarke
  1. University of Wales College of Medicine, Heath Park, Cardiff CF4 4XN, UK

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    If we are to take the scope of neurological illness in a broad sense, to include neuromuscular disease and the various causes of mental handicap and moderate to severe learning problems, then there are six approaches to its prevention that need to be examined from the perspective of a clinical geneticist. We must consider:

    • Preconception genetic counselling, including predictive genetic testing

    • The management of pregnancy

    • Prenatal screening programmes

    • Carrier screening programmes

    • Newborn screening programmes

    • Susceptibility screening and presymptomatic therapy.

    We will not dwell on the precise definition of primary prevention, which excludes the selective termination of pregnancies in which the fetus has been shown to be affected by a serious condition. Such terminations of pregnancy are commonly regarded as one means of “preventing” neurological disease, although they may actually represent a form of secondary rather than primary disease prevention.

    Preconception genetic counselling

    When there have been one or more members of a family affected by a serious neurological, neuromuscular, or mentally handicapping disorder, unaffected members of the family may be anxious in case they develop the condition themselves or in case they have affected children. In such families, it is clearly appropriate to offer genetic counselling to those who are interested.

    Genetic counselling may be defined as a process of communication between client (preferred to “patient” because she or he is usually healthy) and professional, in which the client has questions or concerns about a condition in their family that is, or may be, genetic in origin. The professional listens to the client’s concerns, clarifies (as far as possible) any diagnostic uncertainties there may be, and then tries to answer the client’s questions.1

    It is sometimes helpful for clients to be encouraged to think through the implications, for themselves and for other family members, of decisions they may make in relation to …

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