Diagnostics Blog

Despite new pilot scheme the USA still leads on newborn screening

by bivda on 21 September 2012 17:13

Just last week we were tweeting about the difference between tests for screening and diagnostic purposes. For those who missed this, the difference is significant, yet simple. When a group of patients is screened for a disease or condition, they are nearly always asymptomatic. What the test will be looking for is a susceptibility to, or likelihood of, contracting a disease.  A positive result from screening will always need to be followed up with further tests to ascertain a definitive diagnosis. As the populations being screened are often large the tests are often low cost and non-invasive. Testing for diagnosis, however, will only be undertaken on patients with symptoms or who tested positive at the screening stage. The benefit of a definitive diagnosis is clearly significant, so tests might be more expensive or invasive. Click here to learn more Click here to learn more.

The UK is a world leader in screening. Screening is a way of finding people at risk of a health problem before they get symptoms. This means they can get earlier, potentially more effective treatment or make informed decisions about their health. While some cancers are commonly screened for in certain age groups - such as breast, cervical and bowel - screening is undertaken for a broad range of diseases and conditions; chlamydia and diabetic eye screening, for example. Take a look at this NHS Screening Timeline NHS Screening Timeline which gives you an idea of when the NHS might offer you screening services. As you can see from the Screening Timeline, our earliest days are our first chance to be screened for conditions. In order to give every child the best chance of living a healthy, happy life the NHS screens every baby born -  approximately 700,000 a year - for genetic diseases such as cystic fibrosis and sickle cell disease.  

Why are we talking about newborn screening this week? Because September is Newborn Screening Awareness Month in the USA and UK.

Up until July this year, five conditions were routinely screened in England:

• sickle cell – affects about 1 in 2000 babies born in the UK (about 350 babies a year)
• cystic fibrosis – affects 1 in 2,500 babies born in England (about 250 babies a year)
• phenylketonuria (PKU) – affects 1 in 10,000 babies born in the UK (about 80 babies a year)
• congenital hypothyroidism (CHT) – affects 1 in 4,000 babies born in the UK (about 180 babies a year)
• medium chain acyl-CoA dehydrogenase deficiency (MCADD) – affects1 in 10,000 babies born in the UK (about 70 babies a year)

You can take a look at routine screening in England, Scotland, Wales and Northern Ireland (circa June 2012) by clicking here clicking here and opening the ‘table of conditions screened for in the UK’.

In July a pilot scheme in England extended new-born screening by five further conditions in Sheffield, Leeds, Manchester, Birmingham and some areas in London. The additional conditions are:

• Maple syrup urine disease – 1 in 120,000 births
• Homocystinuria – 1 in every 100,000 births
• Glutaric acidaemia type 1 –1 in 100,000 births
• Isovaleric acidaemia – 1 in 100,000 births
• Long chain fatty acidaemia – 1 in 100,000 live births in the UK

The trial, which will run for one year from July 2012, is funded by the National Institute of Health Research which is providing £600,000 to researchers based at Sheffield Children’s NHS Foundation Trust. The results of the trial will be evaluated after a year and results will be considered by the UK National Screening Committee.

The move comes as the UK National Screening Committee celebrates the 10th anniversary of the new-born screening programme.  

However, despite the promising advance of July’s pilot, some groups still feel the UK is extremely behind. In 2006 the American College of Medical Genetics produced a report entitled Newborn Screening: Toward a Uniform Screening Panel and System. The report outlined 29 'core' conditions that were recommended for newborn screening, together with a 'secondary' list of 25 conditions that are part of the different diagnosis of a core panel condition. Subsequently the US Government signed 'The SHINE Act' ensuring that all babies born in hospitals in the United States should have access to and be screened for at least the 29 'core' conditions.

Organisations such as Save Babies Through Screening Foundation UK continue to campaign for greater newborn screening in the UK.

Learn more about newborn screening technologies available from Perkin Elmer.

#TestingTuesday #newbornscreening