Prevention Of Genetic Disorders Research Articles

The Prevention of Genetic Disease and Mental Retardation.

The Prevention of Genetic Disease and Mental Retardation.

The Philosophy and Practice of Screening For Inherited Diseases

In recent years there has been a decline both in morbidity and mortality attributable to infection, parasitic infestation, and malnutrition which has been coincidental with the development of promising approaches to the diagnosis, treatment, and prevention of genetic diseases. This has encouraged the consideration of genetically oriented screening programs as an exercise in preventive medicine, and considerable thought and effort have been expended in the development of suitable programs covering many inherited disorders, particularly those relating to mental retardation. The World Health Organization in a recent publication, "Genetic Disorders—Prevention, Treatment and Rehabilitation,"has stated that the object of these endeavors is to improve the quality of life for individuals and society as a whole by permitting the control of disease in affected persons. When one comes to plan a screening program it is important to keep the following criteria in mind. The incidence of the disorder(s) in question should be reasonably high. The program must be administratively feasible; the laboratory procedures used must be technically reliable with a very low (to absent) incidence of false-positive or negative results. (Better to have a false-positive than a false-negative.) The methods must be relatively unsophisticated and the cost of the whole scheme must not be great as there is little money available for this type of medical practice. Finally and most important, treatment must be available for the children detected. The family concerned should be given full guidance and encouragement and genetic counseling services should be available to them.

Genetic Counseling. New York: The National Foundation–March of Dimes (Box 2000, White Plains, New York 10602), 22 pp., no cost

The pamphlet entitled "Genetic Counseling" briefly introduces the general concepts of genetic counseling. This publication, prepared by The National Foundation–March of Dimes, provides useful information which should be made available to parents and potential parents for purposes of family planning. Available free-of-charge, it could well be distributed in physicians' offices, outpatient departments, and family counseling units. Hopefully, it will generate greater awareness of the potential benefits of genetic counseling for the prevention of genetic disorders.

Tay-Sachs: Prototype for Prevention of Genetic Disease

This most common of the sphingolipidoses can be effectively prevented if adult carriers of the recessive anomaly are detected and appropriate pregnancies monitored, followed by therapeutic abortion of homozygous fetuses. The authors describe the research through which an accurate, rapid assay for the enzyme defect was developed and the way in which the findings were applied in a program of mass screening for carriers.

PROSPECTS FOR THE PREVENTION OF GENETIC DISEASE

Medical Journal of AustraliaVolume 1, Issue 12 p. 573-577 Original Article PROSPECTS FOR THE PREVENTION OF GENETIC DISEASE† D. M. DANKS M.D., F.R.A.C.P., D. M. DANKS M.D., F.R.A.C.P. Reader in Human Genetics, University of Melbourne; Head, Genetics Research Unit, Royal Children's Hospital Research Foundation, Melbourne. MelbourneSearch for more papers by this author D. M. DANKS M.D., F.R.A.C.P., D. M. DANKS M.D., F.R.A.C.P. Reader in Human Genetics, University of Melbourne; Head, Genetics Research Unit, Royal Children's Hospital Research Foundation, Melbourne. MelbourneSearch for more papers by this author First published: 01 March 1973 https://doi.org/10.5694/j.1326-5377.1973.tb110568.xCitations: 2 †* The 13th Turner-Gibson Oration of The Pædiatric Society of Queensland, delivered at The Mater Hospital, Brisbane, on July 20, 1972. AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onFacebookTwitterLinkedInRedditWechat Citing Literature Volume1, Issue12March 1973Pages 573-577 RelatedInformation

Amniocentesis for antenatal diagnosis of genetic disorders.

Amniocentesis in early pregnancy is becoming an important tool in diagnosis and prevention of genetic disease. Improvements in technic have expanded knowledge and minimized complications. Antenatal diagnosis may lead to planned therapeutic abortion, but it often saves lives as well as reassures anxious parents.

The prevention of genetic disease in the population

As environmentally produced diseases become less common, so others which are largely or even entirely genetically determined assume greater importance and the need for genetic counselling in disease prevention increases. The results of studies of the families of individuals referred to a genetic clinic over the last few years indicate that there are many people in the population at risk of having a child with a serious genetic disorder, yet are unaware of this. However, there is no defined procedure for tracing and following up such individuals. It is suggested that the answer to this problem may lie in a computerized genetic register system. Such a system is being developed in Edinburgh under the acronym RAPID (Register for the Ascertainment and Prevention of Inherited Disease). If such a system is to be effective it would have to be organized on a national basis.

Ascertainment and prevention of genetic disease.

A genetic register system has been developed for the ascertainment and prevention of genetic disease. Its potential value is illustrated with data collected from 478 families with serious genetic disorders which had been seen during the past five years. Of these 249 were referred specifically for genetic counselling, autosomal dominant disorders accounting for the largest group of families with individuals at high risk of becoming affected. Of 717 individuals at high risk of having affected children (or carrier daughters in the case of X-linked recessive disorders), only 101 were referred specifically for counselling. Many were referred only after the birth of an affected child which might otherwise have been prevented. A genetic register system linked to practitioner, hospital, and health department records could be a valuable means of preventing genetic disease.

Antenatal diagnosis.

The diagnosis of genetic disease in utero in early pregnancy is a new and exciting development with important applications in the management of families with a high risk of producing a child with an hereditary disorder. Techniques currently under investigation are briefly reviewed and include sex chromatin, cytogenetic and biochemical studies on amniotic fluid cells and the biochemical composition of amniotic fluid. The study of amniotic fluid and its contained cells would seem to offer a promising and important approach to the prevention of genetic disease.