Newborn screening varies across US

Most newborn babies in the US are not covered by the full panel of tests recommended by genetic screening experts, according to a report by the March of Dimes charity. Every state requires that infants are tested for a range of conditions, including genetic disorders and hearing problems. However, according to the March of Dimes, these requirements vary widely between states. Currently, only Mississippi carries out all 29 tests recommended in a recent report published by the American College of Medical Genetics (ACMG).

Following concerns over the lack of uniformity of newborn screening programs in different US states, the Department of Health and Human Services (DHSS) commissioned the ACMG to recommend a standard panel of tests. The experts looked at 84 different conditions, and concluded that it should be compulsory to screen for 29 selected 'core' conditions, identifiable via a specific test 24 to 48 hours after birth. The resulting report, 'Newborn Screening: Toward a Uniform Screening Panel and System', is currently available for public comment via the Maternal and Child Health Bureau section of the DHHS website.

All of the 29 disorders listed in the panel can potentially be treated much more effectively if diagnosed as soon as possible after birth. They include rare conditions such as maple syrup urine disease, as well as more common genetic disorders such as cystic fibrosis, sickle cell anaemia and phenylketonuria (PKU). 'For infants affected with these conditions, the tests can mean the difference between life and death, or health and lifelong disability', said Dr Jennifer Howse, president of the March of Dimes.

Since 1 June 2005, 23 states have expanded their newborn screening programs to include 20 of the 29 recommended disorders, which accounts for around 38 per cent of the four million babies born every year in the US. A further 12 states, accounting for about 20 per cent of babies, screen for between 10-20 conditions, while the remaining states screen for less than ten. Only eight states screen newborns for cystic fibrosis, a serious inherited lung disorder.

Dr Howse welcomed the progress made so far, saying there was a 'growing understanding' that newborn screening was a 'simple, safe and efficient way to prevent a potentially devastating problem'. But she also said that much more work needs to be done, adding 'we urge continued expansion of newborn screening programs so that all babies across America will receive the benefits of testing for all of these 29 core conditions'. However, not all experts agree on the panel of disorders recommended by the ACMG report. 'It's not a perfect list', said US expert Richard Parad, of Boston's Brigham and Women's Hospital. 'There are many, many disorders on that list that are so rare they're unlikely to happen', he said.

In the UK, all newborns are currently screened for PKU and congenital hypothyroidism, using a drop of blood taken from the heel shortly after birth. In addition, screening programmes for sickle-cell disorders (haemoglobinopathies) and cystic fibrosis are currently being implemented throughout the country.