Calls for 'priceless resource' of heel prick test results to be saved

The National Newborn Bloodspot Screening Programme, or heel prick test, screens for six rare genetic diseases. These are Phenylketonuria (PKU), Homocystinuria, Maple Syrup Urine Disease, Classical Galactosaemia, Congenital Hypothyroidism and Cystic Fibrosis. Photograph: Getty Images

The National Newborn Bloodspot Screening Programme, or heel prick test, screens for six rare genetic diseases. These are Phenylketonuria (PKU), Homocystinuria, Maple Syrup Urine Disease, Classical Galactosaemia, Congenital Hypothyroidism and Cystic Fibrosis. Photograph: Getty Images

Tue, Feb 5, 2013, 00:00

The Government faces strong medical opposition over its plans to destroy the Guthrie cards, writes RONAN MCGREEVY

Since 1966 every child born in the State has been subject to a heel prick which is taken shortly after birth.

The National Newborn Bloodspot Screening Programme, to give it its proper name, screens for six rare genetic diseases. These are Phenylketonuria (PKU), Homocystinuria, Maple Syrup Urine Disease, Classical Galactosaemia, Congenital Hypothyroidism and, most recently, Cystic Fibrosis.

The results are stored on what are known as Guthrie cards which have been kept in the archives at the Children’s University Hospital in Temple Street.

The cards held between 1966 and 1984 were destroyed by water contamination, but those since 1984 remain, approximately a million in total.

The Government now intends to destroy all the screening cards between 1984 and 2002 on foot of a ruling in 2009 from the Data Protection Commissioner that the retention of such cards is in breach of privacy regulations.

The Department of Health and the Health Service Executive have given the public until March 31st to consent to their records or those of their children being kept. Otherwise, they will be destroyed. Each year, cards that are more than 10 years old will be destroyed.

As the deadline approaches, the issue has become an emotive one with many medical professionals decrying the proposed action as unnecessary and a waste of potentially valuable biomedical data.

Opponents say the information could be used as a future resource to detect illnesses as diverse as sudden adult death syndrome and haemochromatosis. The strength of feeling about the issue was illustrated in a letter to this newspaper by professor of genetics at Trinity College Dublin, David McConnell last week.

Prof McConnell likened the future destruction of the record to the “modern equivalent of burning the Custom House, or destroying the birth certificates of all born in Ireland”. He said it would be a “disaster”.

“If these records are destroyed, it will be the worst act of cultural and social vandalism carried out by our Government since 1922,” he concluded.

Health risks

He explained the Guthrie cards could be valuable for individuals and collectively.

“It would also allow the health authorities to obtain a more accurate picture of the health risks of the Irish people as a whole, and this would allow us to introduce more valuable and effective health services.”

He cited evidence of one disease, Haemochromatosis (HC), as a disease which the Guthrie cards can be helpful in detecting.

HC is a disease where sufferers fail to absorb iron properly. It is particularly prevalent in Irish people for reasons which are not well understood.

Almost one in 75 Irish people is affected by the genetic condition. This was discovered in 1999 with a random selection of 900 Guthrie cards from the archive.

Prof McConnell maintains that modern medical research is identifying a genetic component to so many diseases that they amount to a “priceless resource”.

Prof McConnell has support from the Royal College of Physicians in Ireland (RCPI) who have also called for the database to be spared.

RCPI president Prof John Crowe said the Department of Health and the HSE’s approach to the archives was “bizarre” and based on questionable legal advice.

He said the Government could resolve the issue by taking a different tack completely.

Instead of seeking consent from those who do not want their records destroyed, they should assume consent unless a person requested that their card be destroyed.

Prof Crowe said the cards from the 1980s were particularly valuable because they provide a snapshot of the Irish population before mass immigration took place.

He maintained that if the Government remains intent on destroying them, they should keep a sample from the 1980s for research purposes. “In our view, common sense and the good of society should take precedence over a narrow interpretation of the law,” he said.

Disease screening

Prof McConnell has also got the support of the Irish Haemochromotosis Association (IHA).

Its chairwoman, Margaret Mullett, described the potential destruction as a “travesty” and said the Guthrie cards should be used to screen for the disease.

For its part, the HSE said it has moved as far as it can to accommodate those who want to keep their cards.

A spokeswoman explained: “We have to comply with the existing data protection legislation. Because there was no legal basis for it to be collected and no consent given at the time, we have no right to retain them.

“For us to retain them would be outside the law. The data commissioner legislation is quite explicit about what we can and cannot do.”

She said great lengths have been gone to accommodate as many people as possible. Those who want to retain their cards or their children’s cards after March 31st should log on to //newbornscreening.ie for more information.

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