by Alan Cassels
What are health authorities doing with all that information?
“This will only hurt a little,” says the nurse as she cradles a brand new baby girl, all glowing pink and wrinkly. “We’re just going to take a little blood from her heel,” she adds, as she swabs the tiny foot, no bigger than the nurse’s thumb.
With one poke, a few droplets of blood are squeezed onto a filter paper and the baby’s brief, high- decibel howl signals the nurse’s job is done here. The blood spot card dries and is quickly whisked off to the lab for analysis.
The nurse assures the new parents, a bit bemused and exhausted from the birth ordeal, the heel prick test is necessary to find certain congenital disorders they should know about right away. The test can be used to detect hypothyroidism, an inability to produce thyroid hormone or phenylketonuria (PKU), a problem with amino acid metabolism, both of which are worth finding out about sooner rather than later.
But how many tests will that little blood spot go through? According to Perinatal Services BC, the group that runs newborn screening in BC, the blood of all BC babies is tested for 22 different diseases. Other jurisdictions might screen the blood for as many as 100 different conditions.
If there are markers for cystic fibrosis and sickle cell disease or other treatable disorders, signalling the child will need special treatment in order to avoid developmental disorders, liver problems or brain damage, these tests might find them. But are there any downsides to starting so early in our cradle-to-grave medical screening culture?
Well, for one, it’s not cheap. BC’s revamped newborn screening program cost about $2.3 million to set up and it takes another $2 million per year to collect blood samples from about 45,000 BC babies annually. The tests might find a problem in roughly 20 babies who will have one of a handful of treatable conditions. Another 20 might be found with a rare disease and they might benefit from the discovery. But 40 kids a year, out of 45,000 tested, means that for every 1,100 babies screened, you might find one with an abnormality you can do something about. Not bad, but not all diseases screened for at childbirth are easily treatable and it is possible the test might miss something important or find something that turns out to be insignificant. Can we be confident that whomever controls this little baby’s genetic sample won’t make it available to insurers, health authorities or even the police sometime in the future? Hmmm, I think maybe not.
Regardless of the best intentions of our medical authorities, we can’t ignore powerful commercial interests swirling around the decoding of the human genome and the fact companies will pay handsomely for the kind of data generated by our databank that contains the DNA of all of our children. Health authorities, including the ones in BC, are tasked with an incredibly important job: ensuring babies’ blood samples are collected in the most ethical way (which usually means through fully informed consent) and guarded by the strongest protection possible. But how does it work out in the ‘real world?’
A lawsuit against the PHSA (Provincial Health Services Authority), on behalf of a parent is currently before the courts. It charges that the BC government has been collecting and storing newborn blood samples from BC and the Yukon without the consent of parents.
According to Jason Gratl, the Vancouver lawyer arguing the case, the consent provisions around newborn screening have improved somewhat since he filed his claim in May 2010, but he maintains the BC government “has a secret and long-term DNA storage bank that was obtained unlawfully.” He says this DNA information “can say a lot about the children who donated the blood, but it could also say something about their parents.” Are the samples being used in research?
Yes they are, Gratl admits, but he adds, “The precise conditions under which the samples are being used for research have yet to be explored.” He says he doesn’t think there’s anything malignant going on with the screening, but the “lack of consent over the long-term storage of the blood samples” is the real issue at stake. A judge will likely rule in the case this month.
While this lawsuit might improve consent provisions around newborn screening, there are a few general questions that anyone proposing population, “healthy-person” screening should answer, including:
Can the disease only be found with the test? Are there other more reliable ways to diagnose or predict this condition? Is the test always accurate in finding the disease in question? Does the disease occur with a high enough frequency in the general population? Does the disease have some urgency? Does it need to be found right away so things can be done to mitigate the disease’s burden?
The tests for PKU and hyperthyroidism are generally accepted because the tests are accurate and early intervention will help treat the kids with these conditions. But what about the range of DNA tests that could be performed on this baby’s blood? Is it wise to be carrying out genetic horoscoping on this baby just because we can?
GeneWatch UK, a non-profit group focused on genetic testing issues, has been a major critic of the modern push to use DNA to test everything. The organization wrote a paper in strong reaction to a government committee’s suggestion that all babies born in the UK should have their genome sequenced.
Helen Wallace, GeneWatch’s director, gets right to the heart of the issue when she says, “Genes are poor predictors of most illnesses so most children would get misleading information about their genetic risk.” She added, “Most diseases in most people depend much more on social and environmental factors. Better school dinners are much more important for most children than genetic testing.”
Should we be concerned about DNA testing of our babies in BC or anywhere else for that matter?
The answer is “It depends.” It depends how authorities intend to use our baby’s DNA. Will they eventually attach it to her electronic health record, fusing personal genetic and health information so research and monitoring of disease can be done more efficiently? In some eyes, that scenario would be ideal.
According to GeneWatch, “Billions in taxpayers’ money has been wasted in both Britain and the USA and medical privacy has been jeopardized, in an attempt to create the vast databases of electronic medical records linked to DNA that will supposedly allow scientists to ‘predict and prevent’ disease. A massive expansion in the drug market is predicted if everyone is tested.”
What is clear to me – perhaps best symbolized by this ritualistic bloodletting of a day-old infant – is that genetics is going mainstream and playing an increasingly larger role in medical screening and the provision of healthcare. The heel-prick hurts the baby temporarily, yet her first outside-the-womb screening test will surely not be her last. With modern healthcare systems driven to screen for any and all diseases, this baby will face a lifetime of attempts to find disease in her body.
Right now, parents hand over their infant’s DNA because it appears the benefits exceed the risks. The problem is we are not clear what we are risking. Will that little girl face a black cloud of a disease (which might be benign) hanging over her head or a greater lifetime risk of depression or anxiety? Or will she be discriminated against or stigmatized? Those are things we can’t yet answer.
Genetic screening of our babies may allow us to know many things even as it undermines something many of us hold as sacred: the right, sometimes, not to know.
Alan Cassels is the author of numerous books, including The ABCs of Disease Mongering, The Cochrane Collaboration, Selling Sickness and Seeking Sickness.