Genetic screening of newborns…
…. is creating unexpected upheaval for families whose infants test positive for risk factors but show no immediate signs of the diseases, a new UCLA study warns.
“Although newborn screening undoubtedly saves lives, some families are thrown on a journey of great uncertainty,” said UCLA sociology professor Stefan Timmermans, the study’s lead author. “Rather than providing clear-cut diagnoses, screening of an entire population has created ambiguity about whether infants truly have a disease — and even what the disease is.” […]
[T]he study paints a picture of families caught in limbo as they wait months for conclusive evidence that their children are out of the woods for conditions that have been associated with schizophrenia, mental retardation, heart and lung disease, coma and sudden death.
In many cases, the medical results never come; the children slowly age out of having risk factors for up to 29 metabolic, endocrine or hemoglobin conditions. But by that time, some families are so traumatized that they follow unwarranted and complicated regimens for years afterward, including waking their children up in the middle of the night, enforcing restrictive diets and limiting contact with other people. “Years after everything appears to be fine, parents are still very worried,” Timmermans said.
For three years, Timmermans and Buchbinder followed 75 California families whose newborns received screenings that sent up red flags for diseases characterized by an inability to digest food containing fat, proteins or sugars. Of the total, 40 of the infants became what the researchers describe as “patients-in-waiting” — children who have not developed symptoms but whose genetic tests raise flags.
“The parents don’t know whether their child is a false positive or they’re a true positive,” Timmermans said.
Why the hell would they do this to themselves, you ask?
The advent of new screening technologies in the late 1990s vastly increased the number of potential diseases that could be detected with a blood sample easily obtained by pricking the heel of a newborn. Genetic testing of newborns got another shot in the arm in 2005 when the American College of Medical Genetics called for mandatory screening of 29 conditions and 24 sub-conditions. By 2009, all 50 U.S. states and the District of Columbia screened for at least 21 of the 29 recommended conditions, and the full recommendations had been adopted by 44 states, including California.
What they are also finding is a new controversey, in the fact that as many as up to 30% or more of children born in wedlock do not belong to the husband. Men have been cuckholed it seems for an eternity.
Apropos: http://www.xkcd.com/830/
prescreening for death panels?
that’s all.
I think cal2 might be onto the underlying reason.
They are wasting resources on the hypothetical conditions, while the real ones don’t get any attention. Medical bureaucracy keeping themselves busy with typical job security politics, but you still trust them. Good luck!
Whatever happened to loving the child that you were blessed with.
And what happens when the tykes grow up and seek health insurance?
John hit on my only warm feeling for universal health care.
What’s to say about pure insanity?
Quelle horreur!!! This would affect everything–right down to the way parents would bond with their child. If the condition is something serious and treatable, then the knowledge might be of value. But beyond that, what’s the point? Since there’s so much inaccuracy to begin with, why are we torturing families like this? This is like the evil witch cursing Sleeping Beauty in her cradle.
If only they could screen-out the potential lib-tard gene.
My 40 yr old daughter-in-law in the GTA area was pregnant after a difficult first delivery. Extensive testing indicated Downs Syndrome and Vasa Previa (at best a 5% survival rate at full term). For months they were sent to numerous specialists, medical techs and fresh out of university counsellors, all of whom said very forcefully “terminate” “abort” “not viable”. They repeatedly said we will love the child we are blessed with (h/t Howie above). Little lady is over a year old now and absolutely perfect. Docs said well you can’t be too careful (translated covering my a$$)
Jim
Indiana, one can only wish.
jaggedbird, great story and result.
Well, just as an example, I would have liked to have known whether our children had genes for gluten tolerance. Kids who are gluten sensitive can get all sorts of life-long auto-immune disorders, asthma, food allergies, etc. when exposed to gluten-grains and processed foods.
Good news, jaggedbird.
What should be a preventative measure shouldn’t be an emotional burden. If these tests must be done, they should be done to ensure good health and not for eugenic reasons or for terrorising parents.
Also what Howie said.
@jaggedbird:
There must be some confusion with your story. If they suspected Vasa Previa, it is dealt with by doing a C section instead of allowing vaginal birth, and relatively safe, with good outcomes. As for the tests for Down Syndrome, they are only percentages (unless it was cytology), so what I tell people is to do what they want based on their odds. Some people don’t want to know because they won’t abort, so I don’t bother with that test then.
Some tests done after birth are well worth doing, many a child has been saved from hypothyroidism that would otherwise have died or left seriously defected.
When you do a test, ask why, and what is the seriousness of not doing the test vs. doing it, what are you going to do with the results, or don’t do it.
My point was largely about the enormous emotional distress that was caused by the months of constant pressure to abort. An early visit was almost over and as she stood to leave, doc said “How are you going to deal with a Downs baby?”, which dropped her to the chair.
To Langmann, yes a C-section was planned and done. Regular blood work and several tri-colour Doppler ultrasounds but amniocentesis was not done due to the increased risk to the baby and considerable extreme hemorrhaging that she experienced. As you said, my kids were having this baby regardless of “advice” from “professionals”
Thanks for all the kind comments
Jim
Why screen if it doesn’t meet guidelines for a good screening test? I always sigh when politicians or the public become outraged that we don’t screen for disease A, or that we don’t screen ‘early enough’. Treatment, outcome, anxiety, and economics all affect the reasons we don’t. See below:
“WHO criteria for screening
The condition sought should be an important health problem for the individual and community.
There should be an accepted treatment or useful intervention for patients with the disease.
The natural history of the disease should be adequately understood.
There should be a latent or early symptomatic stage.
There should be a suitable and acceptable screening test or examination.
Facilities for diagnosis and treatment should be available.
There should be an agreed policy on whom to treat as patients.
Treatment started at an early stage should be of more benefit than treatment started later.
The cost should be economically balanced in relation to possible expenditure on medical care as a whole.
Case finding should be a continuing process and not a once and for all project.
Wilson and Jungner 1968 cited in Mak et al 1998:646”
@jaggedbird: sounds like they were able to save the baby’s life then by doing a c-section. At least some good came out of the advice, we’re not always wrong or idiots.
As to the advice about Down Syndrome, every colleague I have worked with have been happy to let the parents decide to have their baby – so I don’t know who they were talking to. However there are problems associated with Down syndrome which need to be made clear to parents so they go into it knowing what to expect. Sometimes you just have to be serious and clear, and people may take it the wrong way but it needs to be done. It’s not all roses and ice cream.
As to emotional distress, it is something we have known about for years regarding ordering any test. This is nothing new. Everytime a patient talks us into ordering a test which we do not think is justified, we worry that the test won’t know an unidentified lesion, leading to biopsy and stress only to find out it is benign weeks to months later…
the above should read ” we worry that the test will show a possible lesion…”
This is what happens when people who are not doctors make one-size-fits-all medical decisions for everyone.
Doctors at least tell you the down side to knowing little Jimmy -might- have some rare leukemia gene marker, which one out of a million kids have, and for which there is no treatment anyway if he does get it. Down side being you develop an anxiety disorder.
Tax cut. Now please.
“Whatever happened to loving the child that you were blessed with.”
Nice sentiment, Howie, but it’s almost becoming dated. *sigh*
We had our 3rd lad when my wife was in her early forties. People asked about screening, and we figured it had taken us long enough to finally conceive the little guy that we’d trust that things would work out as they should. And they did: he’s perfectly normal, just turned 5 and has added miraculously to our family.
Some of the tests at that time were pretty invasive, we were told, and might even lead to a miscarriage. We eschewed them all: we were keeping him no matter what, so why go through all that?
Ahhh, Gattaca. Ye slipped in so quiet-like, we didn’t even recognize ye.
mhb23re at gmail d0t calm
Jim/jbird:
Similar experience. Some half-brained assistant to my wife’s OB/GYN calls her up and tells her that her 4-month old fetus has Down’s. I come home to find her in bed, sobbing, with our perfect elder daughter (just over a year) looking on, scared.
Call to the doctor the next day elicits that the “test came back negative”, but that it’s not conclusive. Do we want to do an amnio? Hours of research later, we decide to take the risk, rather than spend five more months on an emotional rollercoaster.
Pat goes into the amnio, shaking like a leaf. (Not because she’s scared of the procedure, but the possible result.) Three or four days living on tenterhooks until we finally get the message: false positive.
I have a lot of respect for the medical profession in general, but that doesn’t mean that it isn’t littered with inconsiderate fools who have no idea what their off-hand comments mean to parents who actually love their children.
Sabrina came on time, and she was/is perfect. Well, except for getting along with her sister..
@ KevinB
Getting advice in that manner is a problem. And I hope it was taken up with the OB/GYN so that he/she could teach the assistant the real meaning of the maternal fetal screening test and how to present the results.
However I must say that there is almost no sure fire way of calming a patient waiting for a test. Having been on the patient side of it myself many times, I have a deal of sympathy, but it is what it is. It is even worse when one has a positive screening test and one is waiting for the definitive test, as your wife experienced…
Most tests we order actually turn out negative. (Which means in real layman speak that the patient doesn’t have the disease). Patients don’t often understand this, and think “if the doctor thinks I have something the test is probably going to be positive (meaning they have the disease).”
I generally now have taken to explaining what we are testing for, why, the consequences of not testing vs. testing (because sometimes you just don’t want to know), and then telling patients that most of the time the tests we order are negative so they shouldn’t worry too much.
It’s all you can do. It’s sometimes an art more than a science, and I would be dishonest to say I have never insulted or made a patient feel bad.
I refused all genetic screening with both of my pregnancies. These are my children, and whether they were born perfectly healthy, with disabilities, or with some fatal birth defect, I was going to love them.
If I learned one thing from my pregnancies, too, it’s that prenatal medicine isn’t an exact science, and there’s lots of wiggle room on everything from the due date to the ultrasound that was *positive* you were having a boy (until it was certain you were having a girl).
One of the assumptions in genetic testing is that there is a simple linear relationship between an abnormal gene and a particular disease. Just because this has been the case in some diseases is more a matter of luck than a general principle.
Biologic systems are non-linear and non-deterministic which means that just because someone has a supposed disease causing gene they may very likely not get the disease (depending on the gene). One condition where genetic testing was supposed to help out was hemochromatosis where people absorb too much iron. I’ve had patients who have 2 copies of hemochromatosis genes and are perfectly healthy and the incidence of clinical hemochromatosis is much less than one would expect based on the frequency of the genes.
Another condition which is common in European populations is Factor V Leiden which results in blood clots occurring more readily and 6% of the population has this gene. If someone is tested for this gene they likely won’t get life insurance; carriers are more likely to develop clots squished into tiny seats on long flights but are more likely to survive penetrating trauma because of increased blood clotting ability.
The results of prenatal screening from the study that was posted would be good evidence to stop much of the genetic testing that is being done. The benefits have to outweigh the negative side effects and I can’t see many benefits from testing for single mutant genes which are of doubtful clinical significance.
Some time ago I ran into a number of papers which looked at screening mammography and the conclusion was that the net benefit of this was negative; the number of false positives is sufficiently large that the overall effect is to cause more harm than good. Most women that I’ve diagnosed with breast cancer have been as a result of their suspicion that something was amiss and an old-fashioned breast exam.
One of the things I find myself doing more and more is chasing after incidentalomas which arise from people getting CT and MRI scans more readily as well as more extensive lab testing. Only a small fraction of these are of clinical significance and it’s a huge waste of time explaining to patients that the abnormalities found on their whole body CT are not related to the problem which they came in with. It’s probably too much to hope for that people will stop being overly reductionistic when it comes to dealing with biologic systems.
Quote “Basically you’re telling families of a newborn, ‘Congratulations, but your child may have a rare genetic condition. We just don’t know, and we don’t know when we’ll know…”
Not to discount anyone’s valid concerns – but this sounds like it might be used as another convenient excuse for non-therapeutic neonatal circumcision as promoted by unscrupulous medical types?