title: Genetic screening, testing and treatment: how far can we go?
abstract: Treatment comes in three forms: care, control, cure; each will be part of any new development in the management of genetic disease, either Mendelian or complex. Diagnosis recognizes three states of disease: impairment, disability, and handicap when the disease is symptomatic and has manifestations. Genetics in health care has the potential to prevent these manifestations by interventions at the presymptomatic stage. Wherever cause of disease involves genotypic variation that undermines homeostasis, genetic testing and screening could play a predictive role. The area of greatest interest will be the common multifactorial diseases. While some persons worry that geneticists have taken society too fast and far along the road to ruin, it is closer to the truth that we have actually gone rather slowly and not very far along the road to better personal and collective health. With wisdom and caution the new opportunities for genetic testing or screening will become part of health care; and sooner rather than later when better treatments for our inherited infirmities are found.
authors.affiliation: Department of Human Genetics, McGill University, Montreal, Quebec, Canada.
authors.forename: C R
authors.initials: CR
authors.lastname: Scriver
mesh_terms: D030342:Genetic Diseases, Inborn / Q000175:diagnosis* / Q000628:therapy*; D005820:Genetic Testing; D006801:Humans; D008954:Models, Biological; D008957:Models, Genetic