Ethical, social, and legal dimensions of screening for human genetic disease / editor, Daniel Bergsma ; Genetics Research Group of the Institute of Society, Ethics and the Life Sciences.

Date:
1974
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Licence: Attribution-NonCommercial 4.0 International (CC BY-NC 4.0)

Credit: Ethical, social, and legal dimensions of screening for human genetic disease / editor, Daniel Bergsma ; Genetics Research Group of the Institute of Society, Ethics and the Life Sciences. Source: Wellcome Collection.

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    8 M. LAPPE AND R. О. ROBLIN 3. We have inadequate information about the optimal age for institution of therapy, or levels of serum phenylalanine at which treatment should be undertaken, or the age at which treatment may be stopped. Since PKU is one of the most intensively studied genetic diseases, Nitowsky's conclusions apply with even greater force to all other genetic diseases for which one might screen in the newbom period. (See the paper by Powledge for further analysis of Nitowsky.) Hybrid Screening (PKU plus other metabolic disorders). Although most states currently test only for PKU, Massachusetts is evaluating a screening program for metabolic disorders which can detect about 30 different genetic abnormalities in the newbom.Some aspects of the ten most frequent disorders are shown in Table 1. The Massachusetts program uses three separate tests; (1) an umbiHcal cord blood sample taken at birth to screen for potentially lethal diseases like galactosemia where the earliest possible detection is vital, (2) a Table 1. Metabolic Disorders and their Estimated Frequency among Newborn Infants in Massachusetts*