genetic screening carriers and affected individuals.docVIP

Genetic Screening: Carriers and Affected Individuals Linda L. McCabe1,2 and Edward R.B. McCabe1,2,3 1Departments of Human Genetics and Pediatrics, David Geffen School of Medicine at UCLA 2UCLA Center for Society, the Individual and Genetics 3Mattel Children’s Hospital at UCLA Linda L. McCabe, Ph.D. Department of Human Genetics David Geffen School of Medicine at UCLA 695 Charles Young Drive South, 4506 Gonda Los Angeles, California 90095 lmccabe@mednet.ucla.edu Edward R.B. McCabe, M.D., Ph.D. Department of Pediatrics David Geffen School of Medicine at UCLA 10833 Le Conte Ave., 22-412 MDCC Los Angeles, California 90095-1752 emccabe@mednet.ucla.edu Key words: genetic screening; technology; newborn screening; carrier; affected Proofs should be sent to: Edward R.B. McCabe, M.D., Ph.D. Department of Pediatrics David Geffen School of Medicine at UCLA 10833 Le Conte Ave., 22-412 MDCC Los Angeles, California 90095-1752 Telephone: 310-825-5095 Fax: 310-206-4584 emccabe@mednet.ucla.edu ABSTRACT Genetic screening utilizes analytical approaches adapted for high throughput to identify carrier and affected individuals in a targeted population. Genetic screening is focused currently on carrier screening, prenatal screening, and newborn screening. Newborn screening should serve as a model for all genetic screening, with more than forty years of experience and numerous lessons learned. Just as in all of genetic screening, there are policy concerns in newborn screening regarding which disorders and technologies should be selected, and how centralized or decentralized should be the process to set policy. The need to share experiences and develop databases transcends all of genetic screening. The future will see population-based screening for adult onset disorders. However, there will need to be extensive research to define predictive risk for various ethno-cultural groups and to determine effective interventions. Ethical concerns regarding the timing of population screenin