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Genetics and Medicine: an evolving relationship.

C R Scriver, C Laberge, C L Clow

    Science (New York, N.Y.)
    |May 26, 1978
    PubMed
    Summary
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    Human genetic diversity is extensive, with millions of unique variants. This underscores the need for genetic screening, diagnosis, and counseling services to manage health and prevent disease effectively.

    Area of Science:

    • Human genetics
    • Medical genetics
    • Population genetics

    Background:

    • Human genome exhibits significant genetic diversity, with millions of unique Mendelian and chromosomal variants.
    • This genetic variation means individuals possess unique phenotypes and predispositions to disease.
    • Genetic factors play a crucial role in determining an individual's health status and susceptibility to illness.

    Purpose of the Study:

    • To highlight the implications of widespread human genetic diversity.
    • To emphasize the necessity of developing comprehensive genetic services.
    • To showcase examples of genetic services in practice and advocate for improved education.

    Main Methods:

    • Review of current knowledge in human and medical genetics.
    • Analysis of genetic variant data (heterozygosity, Mendelian, and chromosomal variants).

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  • Examination of existing genetic service programs (e.g., in Quebec and Canada).

    • Main Results:

    • Identified average heterozygosity of 6% per structural gene locus.
    • Documented over 2300 Mendelian variants and several hundred chromosomal variants in humans.
    • Demonstrated that nearly all individuals, except identical twins, have unique genetic makeups and phenotypes.

    Conclusions:

    • The high degree of genetic diversity necessitates robust genetic screening, diagnosis, and counseling services.
    • These services are vital for the prevention and treatment of diseases influenced by genetic factors.
    • Enhanced public and professional education in human genetics is crucial for advancing healthcare services.