THE SOCIAL CONSEQUENCES OF
EXPANDED NEWBORN SCREENING
STEFAN TIMMERMANS, UCLA
MARA BUCHBINDER, UNC
2009: 51 million people without health insurance
 Medicare for people over 65
 Virtually mandatory universal newborn
screening

99% of 4.1 million babies born annually
 Screened for 54-55 conditions


Amazing political achievement
Highest public health priority
 Highest health service priority

NEWBORN SCREENING

PKU screening in 1960
Ideal condition: prevent mental retardation
 Still, many unanticipated problems

Cautious expansion
 State responsibility

Pediatrics 2000;106:389-422
Copyright ©2000 American Academy of Pediatrics
TANDEM MASS SPECTROMETRY
EXPANDED NEWBORN SCREENING
2005 American College of Medical Genetics
 Recommend screening for 54 conditions
 3 innovations

Embrace MS/MS
 Create evidence
 Expand beneficiaries

Baby
 Family
 Society
 Diagnostic odyssey
 Science
 Avoid preventable deaths

SOCIOLOGICAL PROJECT:

Do anticipated benefits for infant, family, and
society correspond to reality?
New patient population
 Saving lives?

METHODOLOGY

Qualitative research project

Follow 75 families over 3-year period in metabolic clinic
Audiotape-observe visits with genetics team
 Attend staff meetings-interview staff
 In-depth interviews with families in home
 Follow-up interviews
 Review medical records


Diverse population
Socio-economically
 Ethnicity


Well-regarded genetics clinic
4 POSSIBLE OUTCOMES OF NBS
Negative results (not in study)
 False positives: rarely in study
 True positive: either symptomatic or well-known
 Ambiguous out-of-range: patients-in-waiting

Does the newborn have a disease?
 What is the disease the child has?

PATIENT-IN-WAITING

Suspended between disease and normalness
Either biochemical artifact: false positive
 Or potentially life-threatening disease: true positive
 And no one knows what it is

Contradictory messages
 Parents and newborn share patient role
 Shock




no informed consent
Retest ASAP
Preventive measures

He was five days old and we got a phone call from
our pediatrician. We just talked to her about him
sleeping through the night if that was even
possible and she was like yeah go head try to do
it. So she frantically called me when he was five
days old and said don’t let him sleep through the
night you have to feed him every three hours or
basically he can die. That was pretty surprising
and shocking. We had to take him when he was
five days old to get his blood drawn and they did
a blood test to reconfirm that he had a metabolic
disorder.
PATIENT-IN-WAITING: ONSET
Pediatrician unfamiliar with condition
 Internet and health communications:


worst case

And actually the first time that they had
suggested that he might have PKU, you go back to
read the material and it’s like a blur. ...Basically,
it says, we test for this. PKU is this, and basically
in nutshell, because of a deficiency in an enzyme,
your child can become mentally retarded. So, I’m
like, what? And then you go on the Internet and
it’s like, if the levels are like this, you know he’ll
become retarded. He’s losing IQ points by the
second. And I’m like, oh, my gosh! I’m looking at
him, and like, he seems fine. Is his brain, you
know, getting destroyed by the protein that’s in
my breast milk?
PATIENT IN WAITING: TESTING
 Vague
symptoms
 No advance warning
 Prenatal testing
 Parents
visit metabolic clinic
Captive audience motivated by fear-anxiety
 Continued contradictory messages mixed with
uncertainty

HYPERPROLINEMIA



"The ultimate way of figuring this out would be
to test the genes. Those tests are not available
clinically. They are available on a research
basis.”
Can symptoms appear late in life? "They could.
We don't know. I can't guarantee anything but
the fact that she is developmentally perfectly on
target is a good sign."
The foster mother asks about warning signs
besides seizures. The physician explains that they
should be attuned to regular developmental
landmarks such as sitting, walking, and
babbling in time.
PATIENT-IN-WAITING: TESTING
No answers to questions
 Is hyperprolinemia a true disease?
 Sequence of testing



Unavailable or inconclusive
Developmental markers
EVEN WITH “CONCLUSIVE” TEST, NO
ENDPOINT

MCADD: two common mutations


Possibility: classic and unknown mutation
“She still has MCADD and we’ll need to treat her
as if she does—if she did go in metabolic crisis or
if she was vomiting or had diarrhea you still need
to do the same as if she had a severe case of
MCADD. So he didn’t ever say, 'She doesn’t have
it anymore.”
PATIENT-IN-WAITING
 Preventive
measures receive traction in
life


Paperwork confirms diagnosis
Families organize around diagnosis
HYPERPROLINEMIA
"We were not sure whether it was simply a delay
where it would soon happen or there was
something that is going on inside."
 physical and occupational therapy.
 The "diagnosis" of hyperprolinemia has had
consequences in the adoption process.

PATIENTS-IN-WAITING
no conclusive ending: fading away
 Genetics team: nothing has changed so things are
probably well
 The child is "not sick but he's not normal."
 Parents: nothing has changed so we are still in
danger
 Safety due to preventive measures
 Exceptions: some Spanish speaking families,
family suspicious of experimentation

DOES NEWBORN SCREENING SAVE LIVES?
Not an epidemiological answer
 Four possible outcomes:


Child does well in spite of NBS
Patients-in-waiting
 Maternal disease


Child does poorly in spite of NBS
11 kids with severe developmental delay
 3 children died
 Other studies: including MCADD


Child does poorly due to NBS
Overtreatment
 Misdiagnosis


Child does well due to NBS
WHAT DOES IT MEAN “CHILD DOES WELL
DUE TO NEWBORN SCREENING?”
Window of opportunity
 MCADD: swine flu


Geneticist: “The most important thing is when
they get sick, get them to a hospital, and make
sure that they are eating. If they eat, they’re
protected. Although people talk about low-fat
diets, talk about carnitine, the essential
treatment is just not letting them become ill.
With this condition, it’s easy to treat, so that
unless you live in the middle of nowhere—”
Mother: “Or getting to the emergency room. Or
have a doctor that will take you seriously. Or
have a rapid onset disorder. You make it sound
like it’s so easy: like all you do is get them to the
ER. So much happens before they get sick, and
before you get to a [IV] drip.”
Presumes connecting gaps: transportation, time,
communication skills, organize life around
possibility of crisis
 Articulation work: someone needs to step up to
the plate.

HEALTH SERVICE BARRIERS

Health Insurance: free screening but pay for follow-up
Public insurance program: covered if included in contract
 HMO: covered if authorization





Co-pay
Refuse authorization
Maternal disease not covered
Medical foods and supplements
PKU coverage is state mandated
 Others depend: requires authorization


Therapeutic services
Early Start: up to 3 years
 Afterwards: school or regional center



Transportation
Language
CONCLUSION

Social consequences of genetic screening
“New” patient population
 Diagnostic odyssey
 Results confirmed by DeLuca, Kearney, Norton,
Arnold in Pediatrics


Universality of newborn screening
Window of opportunity to saving lives
 Disease not amenable to prevention
 Highest priority dedication from parents
 Systematic inequity problems


It takes a village …
THANK YOU