Human genetics : prepared by the Standing Medical Advisory Committee.

  • Great Britain. Standing Medical Advisory Committee.
Date:
1972
Catalogue details

Licence: Open Government Licence

Credit: Human genetics : prepared by the Standing Medical Advisory Committee. Source: Wellcome Collection.

    3/24 (page 1)
    HUMAN GENETICS Introduction 1. The memorandum is concerned with the medical implications of human genetics and in particular the role of genetic counselling. It is pre- sented in a simplified form and gives the bare outline of the subject only. The main types of inheritance: dominant, recessive, sex linked (X-linked) are explained. Conditions due to chromosomal abnormalities and those with partial and complex inheritance are discussed. It is intended to alert doctors to the problem of genetic disease in the community and to the number of persons who would find genetic counselling of benefit. Recent Trends 2. A consequence of the successful control of diseases due to exogenous factors is the increasing relative importance of genetically determined diseases and congenital abnormalities among the remaining causes of death and disease. In 1900 the infant mortality rate was 154 per 1,000 in England and Wales; in 1970 it was 18 per 1,000. In this period the deaths from congenital malformations have shown only a small reduction so that their relative importance is much greater today; whereas in 1900 congenital malformations accounted for 1 in 30 of infant deaths, they account for 1 in 5 today. Further a higher proportion of infants with genetically deter- mined diseases and congenital disorders reach adult life. It is increasingly important that doctors should have a knowledge of medical genetics and should know how to obtain specialist advice. Appendix III of the memo- randum gives information, current at the time of issue, about specialist advisory centres. The following paragraphs describe the more important features of medical genetics, and reference is made to some of the common diseases in which heredity plays a significant role. Genetic Counselling 3. Genetic counselling consists essentially in giving as accurate informa- tion as possible to the extent that knowledge permits, on the risks of transmission of inherited or partly-inherited conditions. Family doctors are well placed to undertake simple genetic counselling with supporting specialist help. Routine premarital counselling is not practicable but advice could be given where there is a specific problem. Experience at genetic counselling clinics is that most enquiries come from parents who have had an abnormal and handicapped child and wish to know the risk of recur- rence in a subsequent child. Relatives of persons who have had a mental illness, schizophrenia or other psychiatric disorder, often seek advice. Enquirers are often concerned about a high incidence of common disease such as cancer in close relatives. Many of those who come have groundless A ]