Welcome to Illinois

UK NHS developing non-invasive diagnosis tests

Posted in Diagnostic testing, Genetics, Scientific research, Screening by Matt at WelcometoIllinois on August 9, 2009

The Guardian reports that the UK’s National Health Service has begun a program to develop non-invasive blood tests that will reduce the risk of ante-natal testing for a number of conditions, including Down’s syndrome.

I’ve written about non-invasive diagnostic tests a number of times, including the news that the UK’s Medical Research Council (MRC) is investing £7m in a national network of centres dedicated to DNA testing research.

The latest new concerns a £2m grant from UK National Institute for Health Research (NIHR) to a study entitled Reliable Accurate Prenatal non-Invasive Diagnosis (RAPID), which will run for 5 years from April 2009 and test non-invasive alternatives to amniocentesis and CVS.

Specifically the program will investigate the use of circulating cell-free fetal nucleicacid (cffNA) technology for non-invasive prenatal diagnosis (NIPD).

Interestingly, the Guardian reports, and this report (PDF) from the working group considering the potential use of NIPD confirms, that tests based on the analysis of cffNA have been available as a service to hospital trusts since 2001 for “rhesus negative women whose baby is at high risk of having potentially fatal anaemia or jaundice.”

However, the potential use of cffNA as part of the national screening programme is a different matter – one that could potentially increase the accuracy of ante-natal testing for genetic abnormalities and other conditions, but also one that raises significant practical and ethical concerns.

These concerns were not lost on the working group investigating the increased use of cffDNA. The working group report suggests that the national implementation of cffNA for Down’s syndrome screening could be possible in five years but also notes that “a possible consequence of increased testing is more terminations, which could in turn result in increased social pressure to terminate, particularly if the diagnosed conditions were to become rarer in society resulting in a decline of support services.”

The working group report adds:

“It is therefore important to ensure that policies in this area are genuinely motivated by concern for parental autonomy, rather than any sense of reducing financial and social ‘burden’, and that the experiences of disabled people and their families be fairly reflected when framing policy and educational materials.”

In particular, given blood tests are a routine part of any pregnancy, the working group reports that it will be important to ensure that any NIPD tests are not taken lightly.

“If cffNA tests were made available to all pregnant women early in pregnancy as a replacement technology, there would be a need to move towards the rigorous informed consent model commonly used for diagnostic testing, where an active decision is made following discussion with a health care professional.”

One Response

Subscribe to comments with RSS.

  1. 13,076 « Welcome to Illinois said, on September 5, 2009 at 3:36 pm

    […] on the ethics of screening is long over-due, especially with the news that the UK’s National Health Service has begun a program to develop non-invasive blood tests […]

Leave a Reply

Fill in your details below or click an icon to log in:

WordPress.com Logo

You are commenting using your WordPress.com account. Log Out /  Change )

Twitter picture

You are commenting using your Twitter account. Log Out /  Change )

Facebook photo

You are commenting using your Facebook account. Log Out /  Change )

Connecting to %s

%d bloggers like this: