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State Health Departments conduct research and share newborn DNA with
private and government researchers. In 2002, federal officials met in
North Carolina to discuss the creation of a centralized national
biobank of newborn dried blood spots. More recently, there have been
discussions of creating a virtual dried blood spots biobank with
networked access to state repositories of banked newborn DNA.
Ms. Amy Gaviglio, genetic counselor at the Minnesota Department of
Health, presented on the use of dried blood spots at
the December 7, 2009 "Envisioning
the Future of Newborn Screening"
forum. Here are some of her
comments on research using residual (leftover) newborn dried blood
spots:
"And I think a lot of you have probably read about and
heard about residual dried blood spots and have heard them being
described as a national treasure or a scientific goldmine. And what I
hope to do in the next ten minutes is to give everyone a better
understanding about why dried blood spots are being heralded as such
and really what makes them so unique from a scientific and a research
standpoint..."
"Dried blood spot
repositories are really unique from a research standpoint because they
get rid of selection bias. It’s mandatory so all children have the
screening. Same thing with participation bias. You’re not going to
have people, you know, just those affluent or well-educated signing up
for your study. No problem about having low numbers. Most of us have
70,000 some babies a year so the power is always nice and high. And it
gets rid of the limited ability to generalize because it is a
population sample. It represents a whole birth cohort.
"So, samples like this and repositories like this can really aid in the
understanding of what is the frequency of genetic polymorphisms? What
are gene environment or gene-gene interactions? As well as better
understanding complex diseases.
"I did a pretty quick PubMed search to see how many, about how many,
research projects had been published using residual dried blood spots.
And it was about over 55 since 2000 have used newborn dried
blood
spots really ranging in the gamut of what they were used for. I was
surprised to find out that over 160 biomarkers have actually
been
studied in dried blood spots. These also range in size and use from
DNA/RNA, viruses – I mentioned cytomegalo virus – proteins, metals,
like lead exposure, have all been studied in dried blood spots.
"I don’t expect you to read this, but this is a list of all the
different types of biomarkers that have studied. This list was
actually published in 2001 so by now I would imagine it’s quite a
bit
larger.
" ("Scientific Use of Residual Newborn Screening Bloodspots" December
7,
2009, Amy Gaviglio presentation)
At the December 2009 forum, Robert Vogt from the Newborn Screening and
Molecular
Biology branch of the U.S. Centers for Disease Control and Prevention
(CDC), said the following about federal access to residual dried
blood
spots: "We’ve had a CDC IRB-approved protocol for 4 or 5 years
now to be able to receive residual dried blood spot specimens from
programs or clinics, under whatever conditions are taken, given
that
those conditions meet the requirements for that institution being able
to save them....
Parents and state health departments have begun to question the
validity of
research linked to newborn screening. In a comment to a
panel at the December 2009 forum on newborn screening, researcher
Erin Rothwell, Ph.D. from the University of Utah said:
"And a lot of the concerns that participants have in
regards to that is, ‘What is the purpose of newborn screening? Was
it to do secondary research or was it to screen for the disorders that
were originally mandated?’ And yes, I agree completely that this
is a rich resource, but there’s a lot of implications when you have a
state mandated program that all of a sudden didn’t intend on saving
samples. I don’t know any program that started out 20, 30 years ago
that said 'let’s start newborn screening so we could have samples to
store.'
"So this kind of happened unexpectedly and it is a great resource but I
do think that one of the key concerns, not only with parents but from
our research with state health departments, is ‘what’s the
connection to the purpose of newborn screening?’ And that’s just
some of the issues that are coming up."
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