A cheek swab (DIY home test) or heel prick blood test to screen 160 genes linked to 140 inherited genetic conditions in newborn babies. Current UK national screening only identifies 9 conditions but in USA the Department of Health and Human Services advises screening for a much wider panel of core conditions. This Recommended Uniform Screening Panel (RUSP) is now available in the UK.
Each year, an estimated 7.9 million babies worldwide are born with birth defects, many of which appear healthy at birth and come from families with no history of the disorder. Many affected babies are not identified until the appearance of severe and often irreversible symptoms later in life. Detecting a disease at an early stage can enable appropriate and timely medical intervention before more serious and sometimes irreversible health issues are caused.
Following birth, an infant will undergo testing called newborn screening. Approximately a week after birth, a blood sample is collected through a heel prick test. The sample is then sent to the NHS laboratory for testing. At the laboratory, several biochemical tests are performed to screen for a select number of serious, inherited metabolic conditions. If these conditions are identified and treated early, a child usually develops normally and lives a healthy life. Unfortunately, if these conditions are not recognized within a very sensitive time window, it may be too late. Once symptoms appear, they are often irreversible and lead to severe health problems or even death. With early detection, physicians and parents have the opportunity to be proactive and change a child’s life forever.
In USA, the Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children (SACHDNC) recommends screening for 32 core conditions and 26 secondary conditions as identified by the American College of Medical Genetics (ACMG).
Who is the Invitae Supplementary Newborn Screening Test suitable for:
- Parents in the UK who want a more comprehensive genetic screen for their baby
- Babies in the in the UK who have missed out on regular screening
- Babies from parents in the UK with a family history of inherited disorders or from a population identified as at higher risk for genetic disease