Research Article

Effect of genetic counselling on the prevalence of Huntington's chorea.

Br Med J (Clin Res Ed) 1983; 286 doi: https://doi.org/10.1136/bmj.286.6361.281 (Published 22 January 1983) Cite this as: Br Med J (Clin Res Ed) 1983;286:281
  1. C O Carter,
  2. K A Evans,
  3. M Baraitser

    Abstract

    The relative fertility of sons and daughters of patients with Huntington's chorea was found to be a little under 0.5 if they had been told of their risk of transmitting the disease before they had started their families. The effect was much the same in those who had attended the genetic clinic at The Hospital for Sick Children on a single occasion and those who had been told of their risk directly, or indirectly through the patient's spouse or family doctor, by the neurologist who was looking after their affected parent at the National Hospital for Nervous Diseases. If all offspring of patients were informed of their risk the effect on the prevalence of the disorder would be substantial, especially if the mutation rate is low and the reproductive fitness of patients in the past has been close to 1.0. Men and women at risk of developing the disease should not be seen on just one occasion, however: they need continued support by being seen regularly at a special neurological genetic clinic.