title: Genetic testing and early diagnosis and intervention: boon or burden?
abstract: The possibility of early diagnosis and intervention is radically changed by the advent of genetic testing. The recent report of the Nuffield Council on Bioethics is timely and helpful. I have suggested, that not only the severity of the disability indicated by genetic information, and the accuracy of the data, ought to govern the approach to the implementation of screening for genetic disorders. In addition, assessment of the value of the information to those involved should be considered. The efficacy of the available therapeutic measures, combined with the prognostic data are important indices of the value of the information. These measures fall into three categories and thus indicate that three different courses of intervention may be appropriate. Three approaches to diagnosis and intervention are then outlined, drawing on the experience of various clinical initiatives.
authors.affiliation: Queensland Bioethics Centre, Brisbane, Australia.
authors.forename: E R
authors.initials: ER
authors.lastname: Hepburn
mesh_terms: D000328:Adult; D004992:Ethics, Medical; D005260:Female; D030342:Genetic Diseases, Inborn / Q000175:diagnosis* / Q000628:therapy; D005818:Genetic Engineering / Q000331:legislation & jurisprudence*; D024861:Genetic Enhancement; D005820:Genetic Testing / Q000331:legislation & jurisprudence*; D006262:Health; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D015997:Neonatal Screening / Q000331:legislation & jurisprudence; D011247:Pregnancy; D037841:Pregnant People; D011296:Prenatal Diagnosis; D011379:Prognosis; D018570:Risk Assessment; D016896:Treatment Outcome; D035501:Uncertainty