Howard B. Newcombe

Journal Article The Chemical Basis of Heredity Get access The Chemical Basis of Heredity . Edited by McElroy William D. Glass Bentley . 848 pgs., illus. The Johns Hopkins Press , Baltimore, Md . ( 1957 ) $12.50 H. B. Newcombe H. B. Newcombe Atomic Energy of Canada , Chalk River , Canada . Search for other works by this author on: Oxford Academic Google Scholar AIBS Bulletin, Volume 7, Issue 5, November 1957, Page 55, https://doi.org/10.2307/1292482 Published: 01 November 1957

The data base of an ongoing population-based registry with multiple sources of ascertainment was used to estimate the present population load from genetic disease in more than 1 million consecutive live births. It was found that, before approximately age 25 years, greater than or equal to 53/1,000 live-born individuals can be expected to have diseases with an important genetic component. This total was composed of single-gene disorders (3.6/1,000), consisting of autosomal dominant (1.4/1,000), autosomal recessive (1.7/1,000), and X-linked recessive disorders (0.5/1,000). Chromosomal anomalies accounted for 1.8/1,000, multifactorial disorders (including those present at birth and those of onset before age 25 years) accounted for 46.4/1,000, and cases of genetic etiology in which the precise mechanism was not identified accounted for 1.2/1,000. Previous studies have usually considered all congenital anomalies (ICD 740-759) as part of the genetic load, but only those judged to fit into one of the above categories were included in the present study. Data for congenital anomalies are therefore also presented separately, to facilitate comparison with earlier studies. If all congenital anomalies are considered as part of the genetic load, then greater than or equal to 79/1,000 live-born individuals have been identified as having one or other genetic disorder before approximately age 25 years. These new data represent a better estimate of the genetic load in the population than do previous studies.

Introduction. Part 1 The basics and their application: including probabilistic linkage, betting odds and frequency ratios, using global and specific discriminating powers. Part 2 Exploiting more of the discriminating power: including what to do with missing identifiers, comparing names, years of birth, places of birth, geographical identifiers and marital status, linked and unlinkable pairs, some pitfalls. Part 3 Saving central processor time: including blocking the files, the preliminary rejections, the comparison sequence and its early cut-off, the application of value-specific discriminating powers. Part 4 Organizing the product: including calculating absolute versus relative odds, setting an optimum threshold, grouping the matched pairs. Part 5 Recapitulation and further thoughts. Appendices: A - definitions. B - derivations. C - typical identifier frequencies. D - linking special disease registers. E - errors, their sources and magnitudes. F - calculating the outcome frequencies for a non-existent file of unlinkable pairs. G - constructing a file of randomly matched unlinkable pairs. H - details of phonetic coding systems for names. I - design of a computer linkage system. Bibliography. Index.

Special difficulties are encountered in devising reliable systems for searching and updating any large files of documents that must be identified primarily on the basis of names and other personal particulars. The underlying problem is that of making nearly maximum use of items of identifying information that are individually unreliable but that may collectively be of considerable discriminating power. Rules that can be applied generally to name retrieval systems have been developed In a methodological study of the linkage of vital and health records into family groupings for demographic research purposes. These rules are described, and the ways in which information utilization for matching may be optimized are discussed.