Genetic Screening: Programs, Principles, and Research – Thirty Years Later Reviewing the Recommendations of the Committee for the Study of Inborn Errors of Metabolism (SIEM)

• Published in: Public health genomics 2009-01, Vol.12 (2), p.105-111
• Main Author: Simopoulos, A.P.
• Format: Article
• Language: English
• Subjects: Ethics Committees, Research; Ethics, Research; Genetic Counseling; Genetic Diseases, Inborn - diagnosis; Genetic Diseases, Inborn - genetics; Genetic Research; Genetic Testing - ethics; Genetic Testing - standards; Genetic Variation; Human Experimentation; Humans; Infant, Newborn; Neonatal Screening - ethics; Neonatal Screening - standards; Phenylketonurias - diagnosis; Public Opinion; Research - standards; Review; United States
• ISSN: 1662-4246; 1662-8063
• DOI: 10.1159/000156114

Screening programs for genetic diseases and characteristics have multiplied in the last 50 years. ‘Genetic Screening: Programs, Principles, and Research’ is the report of the Committee for the Study of Inborn Errors of Metabolism (SIEM Committee) commissioned by the Division of Medical Sciences of the National Research Council at the National Academy of Sciences in Washington, DC, published in 1975. The report is considered a classic in the field worldwide, therefore it was thought appropriate 30 years later to present the Committee’s modus operandi and bring the Committee’s recommendations to the attention of those involved in genetics, including organizational, educational, legal, and research aspects of genetic screening. The Committee’s report anticipated many of the legal, ethical, economic, social, medical, and policy aspects of genetic screening. The recommendations are current, and future committees should be familiar with them. In 1975 the Committee stated: ‘As new screening tests are devised, they should be carefully reviewed. If the experimental rate of discovery of new genetic characteristics means an accelerating rate of appearance of new screening tests, now is the time to develop the medical and social apparatus to accommodate what later on may otherwiseturn out to be unmanageable growth.’ What a prophetic statement that was. If the Committee’s recommendations had been implemented on time, there would be today a federal agency in existence, responsive and responsible to carry out the programs and support research on various aspects of genetic screening, including implementation of a federal law that protects consumers from discrimination by their employers and the insurance industry on the basis of genetic information.