Dilemma of the life-saving cards

Rosie Witcutt and daughters Jasmine, 17, and Stephanie, 15 months, look photos of Rosie's other daughter, Danielle, who died suddenly 10 years ago from Long QT syndrome, as deduced by her Guthrie heel prick sample. Photo / Dean Purcell

To store or not to store. That is the question vexing some, including our privacy commissioner, regarding some two million cards holding droplets of newborn blood.

For those who approached Dr Jon Skinner seeking an explanation for sudden deaths in their families, the answer couldn't be simpler. Store the blood and store it indefinitely. It can save lives.

The blood in question is heel prick samples - often referred to as the Guthrie Test - routinely taken from babies at birth and tested for a wide range of treatable metabolic conditions.

What's less well known is that the blood spots have been kept since this nationwide testing began in 1969, and that about two million Guthrie Cards reside in a document storage warehouse in Auckland.

For years after her daughter Danielle died suddenly in 2001, aged 21 months, Rosemary Witcutt was left wondering.

"We didn't know why she died. The autopsy came back clear. She was dead when I went in the morning. We started the grieving process and thought I'd never know why she died. It was awful. It was a constant gnawing in the back of your mind."

But then, through a chance conversation about something called Long QT syndrome, Witcutt got in touch with the Cardiac Inherited Disease Group and Skinner, who retrieved Danielle's Guthrie Card and genetically tested its blood. "She had the mutation, [Long QT Syndrome] which was a surprise," says Witcutt. "So we found out why she died which was fabulous, because, as a mother, of course you always think, 'What did I do?"'

Witcutt was concerned, too, for her other daughter Jasmine, now 17. Much to her relief, further genetic tests showed Witcutt was not the carrier of the gene, and that Jasmine didn't have it either. Since remarried, knowing she's not the carrier also meant fewer worries for Witcutt about having another child, Stephanie, now 15 months old.

"When a young person dies suddenly, it's hard to overestimate the impact it has on the family," says Skinner. "The parents are usually blaming themselves. When a child dies at night for example, we've found that families never change the room. They leave the room exactly as it was, in case some pathologist will come along and examine the room and find a cause as to why it happened."

Young sudden death happens quite a lot, says Skinner. There are about 100 cases per year - about half are sudden infant deaths under the age of 1 and the other 50 per cent between 1 and 40. Some will be caused by inherited cardiac conditions like Long QT Syndrome, which is what Skinner and the Cardiac Inherited Disease Group help families find out about.

The problem with the condition, which causes a chaotic rhythm in the heart, is that it's hard to detect. In life, it can be diagnosed only with an electrocardiogram. In death, it can be discovered only by genetic testing. Which is why it won't be discovered by an autopsy.

"In conditions like Long QT syndrome, there is nothing to see under the microscope," says Skinner. "These abnormalities happen at a molecular level - they're to do with the movement of sodium and potassium ions across the cell membrane."

Nowadays pathologists keep tissue after an unexplained death. But it's a protocol that's been in place only for a couple of years, so for families seeking an explanation for past sudden deaths, the Guthrie Cards provide the only source of genetic material left on which to carry out tests. Skinner and his group have been able to provide answers to a number of families through the cards - in one instance from a card that was 23 years old.

"Apart from the fact that you give them an answer, you find other people in the family who are affected," he says. "Basically, 50 per cent of the first-degree relatives will be gene carriers of this condition and will be potentially at risk of sudden death."

Finding out such information can be lifesaving because the condition is treatable through beta-blocker medication and, in severe cases, through defibrillator pacemakers. In several cases Skinner has been able to ensure mothers or siblings who had the condition were given the appropriate treatment.

But here's where this story gets a little weird. You would think Auckland Hospital, where Skinner works, would be happy to promote such groundbreaking work by one of its doctors. Not to mention that what he does saves lives.

But when the Herald organised a photo, it was told by Auckland District Health Board communications executive Christine Dennis: "As Jon Skinner is speaking in his capacity as chairman of the Cardiac Inherited Disease Group rather than as an ADHB representative, the photographic shoot will need to be off ADHB site, please."

Auckland Hospital also runs the National Testing Centre for Guthrie Cards through its testing laboratory Labplus. When we asked to interview Labplus clinical director Dianne Webster, Dennis said no.

"The ADHB is currently collaborating on a Cabinet paper on the subject of Guthrie cards' storage and use and we feel an interview at this stage is a little premature. We would however, welcome your approach following the release of the Cabinet paper."

The ADHB's ambivalence - and much of the controversy that has arisen about the ongoing storage of the cards - is perhaps explained by Skinner's work being deemed a "secondary use". What that means is that the cards are being used for something other than their primary purpose - namely metabolic newborn screening to reduce the morbidity and mortality of some 28 congenital conditions by early detection and treatment such as phenylketonuria and congenital hypothyroidism.

Other secondary uses include the police using the cards' blood to identify dead or missing victims of disasters or crimes. The Ministry of Health says just 13 releases over 20 years have been made for identifications purposes and these follow strict police guidelines with appropriate consents from next of kin or court orders. But the figure is at odds with then privacy commissioner Bruce Slane's investigation into the use of Guthrie Cards in 2003. Slane found 16 "forensic" uses of the cards between 1995 and 2002.

Over the same period there were also four civil court orders for access including one which prompted his inquiry. That was in 1999 when the High Court ordered that a Guthrie card for a deceased child was produced for the "inspection by the court and/or for the purpose of making any experiment thereon".

The blood sample was tested and the father of the child subsequently made an application for a declaration of paternity. The mother of the child then complained to the Health and Disability Commissioner that her child's blood had been collected and stored without her consent. The Commissioner in turn recommended a policy be developed to ensure informed consent is obtained from parents for neonatal blood test.

Slane weighed into the debate in 2003 on privacy grounds recommending clear rules and legislation be developed for the retention and use of samples. The current commissioner, Marie Shroff, has also made recommendations. She says the Newborn Metabolic Screening Programme is a vital scheme that has to be protected.

"This can best be accomplished by the use of clear policies, a suitable governing body and appropriate legislation. Given suitable protections, I can see the merit of retaining the bloodspot cards in a national biobank." She is not however in favour of things staying as they are.

"Our view is that the status quo, where a vast number of blood samples is being held well beyond the expiry of the purpose for which it was collected, is not supportable," says Shroff. "It is a collection sitting there with no clear governance or control, that means it is potentially vulnerable to other uses." Her "fallback" position if nothing is done is that the cards should be destroyed once they have past the expiry (after 16 years) of their primary purpose .

Skinner and others are not impressed. "Most of us in the field are mortified by the proposal. None of us would object to strict controls in the use of the samples. None of us would mind regulations and so on, but the wholesale destruction seems like a mindless exercise."

Skinner says it's vital to retain the blood spots as a resource for families to get answers - sometimes decades after a person has died. He says diagnosing for Long QT syndrome, with fully informed consent from the families concerned, is just the beginning of what can be done. Other inherited cardiac conditions like CPVT (catecholaminergic polymorphic ventricular tachycardia), a killer of young athletes, can also be diagnosed via bloodspots.

Other researchers are also dismayed they cannot get access to the Guthrie Cards. The Ministry of Health says the Newborn Metabolic Screening Programme Advisory Committee has rejected all applications for population-based research using the cards because they would contravene what families are told when they consent to the heelprick test - and hence jeopardise the primary purpose of the screening programme.

But as Professor Charlotte Paul of Otago University's Department of Preventive and Social Medicine points out such research can be done without undermining privacy by unlinking identifiers on the cards so that participants remain anonymous. Such research - which would also have to go through Ethics Committee approval - can also serve the public good.

Using a sample of the cards to test for HIV antibodies in newborns for example would show the prevalence of HIV in pregnant women. That in turn could have led to better decision-making and quicker rollout of national testing for HIV in pregnancy and virtually eliminate mother to child transmission of the infection.

Other examples of public health benefits include testing the cards for environmental pollutants such as organochlorines which could be used to assess the relation to breast cancer risks for women.

Dr Andrew Shelling from the University of Auckland's Department of Obstetrics and Gynaecology, is another who would like the cards to be used in research. He says the cards must not be compromised for their primary use which is newborn metabolic screening, but believes it's possible to do both.

He says the cards provide an outstanding resource of random samples that would be invaluable in research, such as determining which genes predispose people to developing breast cancer and finding out how common such gene variants are in the population.

Meanwhile as health officials continue to wrestle with policy options for the way forward, the Minister of Health, Tony Ryall, recognises the essential dilemma and has asked the ministry for further advice.

"It's a difficult call. On the one hand parents gave permission for their kids to be tested but that's all. Yet on the other hand, there's a wealth of potentially life-saving information being kept for 40 years."

As Skinner points out advances in genetic testing have overtaken the issue of informed consent. "At the time the blood was taken neither the family nor the doctors had any clue about the potential value of it in terms of saving lives in the future."

He says it would be appropriate today to have consent for Guthrie tests which included information about genetic testing and asked whether it would be okay to use the blood in an anonymised sample for public good research. "Then parents could tick a box and say yes or no."

GUTHRIE CARDS
* Used since the 1960s when Professor Bob Guthrie and other scientists began using blood samples stored on paper for newborn metabolic screening.
* About 2 million in storage in NZ.
* Modern use as source for detecting genetic defects.
* Individuals (or their parents) can request the return of their card.