Evaluating the evidence for newborn screening of rare disorders

April 7, 2010

Newborn screening involves the testing of blood samples from newborn babies for various different rare genetic disorders. In some cases, early identification can allow interventions to prevent or ameliorate disease; other potential benefits of early, pre-symptomatic diagnosis include avoiding the need for extensive medical investigations later in life and allowing prompt genetic counselling for families (including advice about the risk of recurrence in future children). (PHG Foundation)