Problems in the control of genetic disorders

Abstract

Preventive genetics services based on population screening are now an integral part of maternal and child health programmes. New developments in DNA technology, ultrasound scanning, and assay of factors in maternal blood are greatly increasing their potential to improve human health. If these services are to be delivered fairly to populations, there must be much more emphasis on community information, professional education, and service monitoring.

PIP: The challenges in the control of genetic disorders will be to provide pediatric surgery, continuous medical or social support, and research. The focus of this report is on the factors influencing the relevance of genetics programs for public health: genetic epidemiology, genetic structure, demographic factors, and the level of development of the country. Approaches for control of genetic diseases must accept that prevention and treatment are usually impossible. The only remaining alternative is avoidance through genetic counseling and genetic counseling and genetic screening neonatally, or before and during pregnancy with ultrasound or alpha fetoprotein serum screening. Some pregnancies at risk may be identified by advanced maternal age distribution and country. There is also the possibility of premarital carrier detection, which has been successful in the identification of thalassemia in Cyprus. Carrier detection can occur both before and during pregnancy for groups at risk for Tay-Sachs disease, sickle cell disease, and thalassemia. In the future, there may be carrier tests available for certain common inherited diseases such as cystic fibrosis. Fetal diagnosis ensures the delivery of a healthy child for some conditions. Thus far amniocentesis, fetal blood sampling, and chorionic villus sampling do not indicate an excessive rate of fetal loss, but laboratory diagnosis is dependent on accuracy of readings. Cytogenetic, biochemical, and DNA methods need improvement. The limitation of fetal diagnosis is that the only avoidance option is abortion. Problems also exist in the delivery of genetic services. Based on existing services in Europe, no more than 20% of the genetic burden is avoided, unless there is good public education an counseling at the community level. Obstetricians and practicing physicians need training in genetic counseling. Professional codes of practice need to be instituted. The effectiveness of control measures is dependent on the strategy adopted and must pertain to the country-specific needs. A monitoring body may be required to ensure fairness, effectiveness, and improvement in service delivery. Appropriate nutritional and public health strategies need to be formed to account for the genetically determined population differences, i.e., lactose intolerance, G6PD deficiencies, or hemoglobin E/Beta thalassemia, for all diseases have a genetic determinant.