Abstract
The Human Genome Project now allows tests to be offered to the community for many genetic conditions at birth, before or during pregnancy, or as a screen for risk of disease. Some of these tests are provided to all infants at birth (such as for phenylketonuria and cystic fibrosis [CF]), while other genetic conditions are ascertained clinically at birth or soon after (such as Down syndrome). The scope of newborn screening is expanding, and many programs now test for a larger number of conditions, raising the issue of follow-up services for children and their families. Testing at birth for CF is now offered for all children born in Australia and is becoming increasingly common in the United States. The services available to families with a child born with a genetic condition are determined by many factors, including the type of genetic condition and its frequency, the medical needs of the child, and available resources. Models of service delivery also impact on the extent and type of services provided. Conditions diagnosed through a population-wide newborn screening program may have follow-up services embedded within the program, at least for the immediate period after diagnosis. Conditions diagnosed in a more ad hoc way may not have comprehensive services provided for the child and the family. Other factors impacting on genetic services that may be equally important, but are more difficult to quantify, relate to community attitudes to particular genetic conditions, or to disability generally, and the capacity of interested parties to lobby for services. During the past decade prenatal testing programs have expanded. More conditions can be detected, and the proportion of the population to whom tests are available has increased. Prenatal tests such as ultrasound and maternal serum screening are now offered to pregnant women on a routine basis to determine the …
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have