Frequency of Inherited Disorders Database ©

Institute of Medical Genetics

Introduction

The Frequency of Inherited Disorders Database (FIDD) has been established for use in a clinical context, in medical research, for epidemiological studies and in planning for genetic services. We have initiated a systematic literature search on the prevalence and incidence of human Mendelian disorders and created FIDD.

The pilot project on FIDD begun in July 1998 and represents the first easily accessible repository of published data on the frequency of inherited human disorders worldwide. So far FIDD contains a total of 1580 records and will be prospectively maintained. A more refined systematic literature search in progress that will expand its size, scope and scale.

The database has been loosely structured into 14 groups of inherited disorders according to the main body system or function affected viz., neurological and neuromuscular, metabolic, haematological, skeletal and craniofacial, skin, renal, endocrine, eye, gastrointestinal, mental handicap, cardiac and circulatory, respiratory, psychiatric and a group of miscellaneous disorders. Information on 280 conditions is currently available in FIDD comprising 109 autosomal dominant disorders, 136 autosomal recessive, 35 X-linked. There are also 19 groups of less well-defined conditions such as "inherited neuromuscular disorders" or "haemophilias". The present the database contains 1580 incidence or prevalence entries extracted from 969 articles gathered from 215 journals. Data was also gathered from 100 articles outwith Medline (either because they were published pre-1966, or were in foreign journals and/or written in a foreign languages). References were also found in 119 different books, 9 MD theses and 22 different reports.

It is acknowledged that in its current first draft form, FIDD is incomplete. We therefore would be most grateful for the assistance of the scientific community in drawing errors of commission or omission to our attention.

The necessary funds, that are vital for the continuity of this important project, are being sought.

April 2002

Background

Prevalence and incidence data are not only important in clinical medicine but are also a prerequisite for the efficient planning of health services, for assessing health care priorities and for monitoring trends of disease prevalence. More accurate data, both regional and national, are required in order to evaluate whether substantial frequency differences exist both racially and geographically. Information on the prevalence and/or incidence of Mendelian genetic disorders in defined human populations is sparse, often incomplete, and usually seriously out of date (4). Since the available data are widely dispersed in largely specialist journals, a central information repository is seen as essential.

Several attempts have been made to estimate the overall prevalence of genetic disease. Among British studies, those of Carter (5,6) were the most systematic but these have since been superceded by subsequent estimates for individual disorders. Weatherall’s data (7), originally based on those of Carter and the Committee on Mutagenicity of Chemicals in Food (8), include further information, but are not comprehensive. The same applies to the data of Connor and Ferguson-Smith (9). The OMIM database contains only limited information on the prevalence and incidence of Mendelian disorders and thus, in this respect, does not fulfil the requirements of a comprehensive central epidemiological database. A variety of data are available from other countries (10-14). However, these are mainly estimates of the frequency of congenital malformations and none of the studies are comprehensive.

Several attempts have been made to estimate the overall prevalence of genetic disease. Among British studies, those of Carter (5,6) were the most systematic but these have since been superceded by subsequent estimates for individual disorders. Weatherall’s data (7), originally based on those of Carter and the Committee on Mutagenicity of Chemicals in Food (8), include further information, but are not comprehensive. The same applies to the data of Connor and Ferguson-Smith (9). The OMIM database contains only limited information on the prevalence and incidence of Mendelian disorders and thus, in this respect, does not fulfil the requirements of a comprehensive central epidemiological database. A variety of data are available from other countries (10-14). However, these are mainly estimates of the frequency of congenital malformations and none of the studies are comprehensive.

References:

  1. Stevenson AC, Kerr CB. On the distribution of frequencies of mutation to genes determining harmful traits in man. Mutation Res. 1967; 4: 339-352.
  2. Bodmer WF, Cavalli-Sforza LL: Genetics, Evolution and Man. San Francisco: W H Freeman, 1976.
  3. Childs JD. Dominant and X-linked recessive mutation rates in man. In: Progress in Medical Research. Amsterdam: Elsevier, 1982; 3: 163-167.
  4. Vogel F, Motulsky AG: Human Genetics, Problems and Approaches. Berlin: Springer Verlag, 3rd Ed, 1997.
  5. Carter CO. Monogenic disorders. J. Med. Genet. 1977; 14: 316-320.
  6. Carter CO. Contribution of gene mutations to genetic disease in humans. In: Bora KC et al. Progress in Medical Research, 3rd Ed. Amsterdam: Elsevier Biomedical Press, 1982; 3: 1-8.
  7. Weatherall DJ. The New Genetics and Clinical Practice. 2nd Ed. Oxford University Press, 1985.
  8. Committee of Mutagenicity of Chemicals in Food, Consumer Products and the Environment. Guidelines for the Testing of Chemicals for Mutagenicity. London, 1981. (Her Majesty’s Stationery Office).
  9. Connor JM, Ferguson-Smith MA. Essential Medical Genetics. 2nd Ed. London: Blackwell Scientific Publications, 1987.
  10. Hall JG, Powers EK, Mcllvaine RT, Ean VH. The frequency and familial burden of genetic disease in a pediatric hospital. Am. J. Med. Genet. 1978; 1: 416-436.
  11. Baird PA, Anderson TW, Newcombe HB et al. Genetic disorders in children and young adults: a population study. Am. J. Med. Genet. 1988; 42: 677-693.
  12. Sinver CR, Neal JL, Saginces R, Leow A. The frequency of genetic disease and congenital malformation among patients in a pediatric hospital. Canad. Med. Assoc. J. 1973; 108: 1111-1115.
  13. Czeiszl A, Sankar K. The load of genetic and partially genetic disorders in man. Mutation Res. 1984; 128: 73-103.
  14. UNSCEAR Report. Genetic and somatic effects of ionizing radiation. United Nations, New York, 1986.
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