European-derived populations. These are the following (all in live births): autosomal dominants, 0.95%; X-linked, 0.05%; and autosomal recessive, 0.25%. Advances in human genetics during the past two decades now permit an upward revision of the above estimates to 1.5% for autosomal dominant diseases, 0.15% for X-linked diseases, and 0.75% for autosomal recessive diseases (Sankaranarayanan 1998). Note that the revised total frequency of Mendelian diseases is thus 2.4%, which is about twice the earlier figure of 1.25%.
For multifactorial diseases (which include congenital abnormalities present at birth and chronic diseases), the estimates used by UNSCEAR (1986, 1988, 1993, 2001) derive from data obtained for the population of Hungary (Czeizel and Sankaranarayanan 1984; Czeizel and others 1988). These estimates are 6% of live births for congenital abnormalities and 65% of the population affected by chronic diseases (excluding cancers). Since most chronic diseases have their onset in middle and late ages (published figures pertain to these age groups), data on the distribution of the population in various age intervals (i.e., ages 0, 1, 2, 3–4, 5–9, 10–14, … 80–84, 85+, etc.; a total of 21 age intervals) for 1977 to 1981 were used to obtain estimates applicable to the population as a whole. For example, if the published estimate for a given disease pertains to the adult population (i.e., above age 14), the figure was reduced by 21% since the 0–14 year age group constituted 21% of the total population of 10.7 million (Czeizel and others 1988).
For the BEIR V committee (NRC 1990), the starting point for congenital abnormalities was the published data of Czeizel and Sankaranarayanan (1984) and Czeizel and others (1988), which gave an incidence estimate of 6%. This figure was reduced to 2–3% by noting that the 6% figure is “… so high, in part, because of the unusually high frequency of congenital dislocation of the hip in Hungary” (Czeizel and Sankaranaryanan 1984). For chronic diseases, the starting point was the estimate of about 60% based on preliminary data of Czeizel and colleagues made available to and used by UNSCEAR in its 1988 report. The BEIR V committee reduced the figure of 60% to 30% by (1) subtracting the estimates for essential hypertension, acute myocardial infarction, other acute and subacute forms of ischemic heart disease, and varicose veins of the lower extremities (together about 25%) and (2) reducing the figure for juvenile osteochondrosis of the spine from 11% (based on radiographic screening) to about 0.5% (on the assumption that only about 5% of the cases identified by radiographic screening may be deemed to be of clinical significance). The resulting adjusted figure of about 30% was given as the estimate for the “selected others” subgroup of “other diseases of complex etiology.” Together with the earlier committee’s figures for heart disease (60%) and cancer (30%; which were termed “round number approximations” for all varieties of the above diseases), the total became 120%. Footnote f to Table 2-5 of the BEIR V report (NRC 1990) offers the following explanation for the 120% figure: “Includes heart disease, cancer, and other selected disorders…. Note that the total exceeds 100%. The genetic component in many of these traits is unknown. To the extent that genetic influences are important, the effects are through genes that have small individual effects but that act cumulatively among themselves and in combination with environment factors to increase susceptibility.”
In examining what would be considered a reasonable estimate of baseline frequency of congenital abnormalities for use in risk estimation, the BEIR VII committee took note of the vast body of data on their prevalence in different parts of the world, including some large-scale studies carried out in North America (Myrianthopoulos and Chung 1974; Trimble and Doughty 1974; Baird and others 1988). The estimates vary over a wide range, from about 1% in live births to a high of about 8.5% in total births (i.e., still- and live births), depending on, among other things, the definition, classification, and diagnostic criteria; entities included; method of ascertainment; duration of follow-up of live-born children; and sample sizes. In one of the largest U.S. studies (Myrianthopoulos and Chung 1974), the overall frequency of major abnormalities was 8.3% (53,257 deliveries of known outcome), which compares favorably with the estimate of about 6% from British Columbia (Baird and others 1988) and of about 6% from Hungary mentioned earlier. This documents the premise that under conditions of good ascertainment, the overall prevalences are similar and are of the order of about 6%. This committee therefore accepts the 6% figure as reasonable for use in risk estimation in this report.
For chronic multifactorial diseases, the committee prefers to use the estimate of 65% obtained by Czeizel and colleagues (1988) in view of the fact that the estimate is based on 26 clear-cut disease entities defined by ICD (International Classification of Diseases) code numbers that were studied epidemiologically in a large population. This estimate was also used by UNSCEAR (1988, 1993, 2001) as the best available overall estimate for chronic diseases as a whole (excluding cancers). Included in the above estimate are heart or blood vessel-related diseases, together, about 25%. For the estimate of 60% mentioned in BEIR V (NRC 1990) under the heading “heart disease” no verifiable source or study is cited. Likewise, for cancers, BEIR V cites an estimate of 30%, again with no citation of the source or the types of cancers included. As mentioned earlier, both of these numbers represent round number approximations.
In the view of the BEIR VII committee, the inclusion of cancers in estimating the heritable risks of radiation is not meaningful at the present state of knowledge.