Symposium No. 1: Genetics and society. Introduction by the Chairman. On emphases in human genetics.

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HESE are days when geneticists and laymen alike, spurred on by the fantasTtic achievements of molecular genetics and the mounting realization of the extent of the genetic imperfections of man, find it easy to speculate on those bold new approaches commonly subsumed under the term “genetic engineering”. As the sole practicing human geneticist on this panel, I am perhaps expected in these brief introductory remarks to dwell enthusiastically on the possibility of such developments. But instead, I prefer to pursue a humbler view of man’s genetic future and what the geneticist can do about it. Both our inventory of the human genome and our knowledge of how it operates are still rudimentary. The catalog of inherited human traits and disorders now numbers several thousand, and is growing at an impressive rate. But even so, at best we understand a little bit concerning perhaps one percent of our genome, and virtually nothing of genetic control mechanisms in mammals, including, of course, man. Clearly there are some genes from whose consequences mankind should be spared by procedures which, inter alia, adequately guarantee individual rights. Nevertheless I would once again urge, as I have done several times previously during the last decade (cf. NEEL 1961), and as I shall do later in this paper, that a far greater immediate challenge than attempts at consciously altering the genome is to protect and improve the phenotypic expression of what we now possess. The most fruitful approaches to employing genetic knowledge for human welfare, now and in the foreseeable future, fall under four headings, which I shall list and discuss briefly, after which we might also discuss briefly the role of the geneticist in society’s utilization of the genetic knowledge he has helped generate. 1. Identification of mutagenic agents and surveillance for increased mutation rates: A recurrent concern of the geneticist for the past 40 years has been that exposure to ionizing radiation and a variety of trace chemicals was increasing mutation rates and so the burden of human disease. Advances in our inventory of potential ‘sentinel’ phenotypes and biochemical indicators now render feasible an improved monitoring of human populations for increased mutation rates, and I am sure we will see substantial efforts in this direction in the near future. Based on an indirect approach that utilizes the observed frequency of ‘private’ protein variants and a computer simulation of the rate of loss of such variants