Friday, February 3, 2006
Session 7: Public Comments
CHAIRMAN PELLEGRINO: We've reached the time
for comment. We have one person who has requested the floor, Ms.
Susan Poland. Before doing that, I thank once again our two presenters,
their being with us and sharing their wisdom, also for being so
wonderfully obedient to my request for precision and doing it so
MS. POLAND: This will be short because I don't
have a good voice, but I was struck when you were talking about
the state liability holding the Guthrie blood spots. One of the
meetings I had gone to in this past few months was the Secretary's
Advisory Committee on Genetics, Health, and Society, and Francis
Collins was there talking about a new initiative from the National
Human Genome Research Institute of creating a large resource of
hundreds of thousands of people getting their DNA and going out.
They were talking about also the expense of going out to get informed
consent from these people and the whole bit, and it dawned on me
while I was there you've got these newborns being screened,
and you can get their DNA. So why not relieve the states of the
liability and have a federal repository where after three months
or whatever, they just send them off.
To me the only problem would be anonymization and duty to recontact
that would make it extremely expensive. And while the initial newborn
screening may help the newborns then that get the screening, the
long-term resource where they can then have studies be anonymized
will actually help them probably when they're adults or they're
That's my only comment. I just want this group to be aware
what that group is working on.
CHAIRMAN PELLEGRINO: Thank you, and we might
DR. ROWLEY: Can I respond? The problem with
anonymizing specimens is that there's no way to go back to the
family and give them that information. So if you're going to
go to that kind of effort, then you have to have a way to put that
into the context of the family.
CHAIRMAN PELLEGRINO: Can I respond?
DR. ROWLEY: And obviously with privacy, et cetera,
but we're doing this in other conditions where there is genomic
testing, and you find a mutation. You then can go back and find
out about the family history or the response to treatment of a cancer,
MS. POLAND: Dr. Rowley, I thought of that, too,
and I thought it's actually part of what you all were saying
is a system. It initiates a system. It becomes part of a resource,
and then it's incumbent upon the doctors that are seeing these
children or the parents or whatever to monitor the system to then
inform. It's part of the continuing care. It goes through
a step rather than go up a step and then back, if you follow that.
CHAIRMAN PELLEGRINO: Thank you.
I have another request for comment. The time is short, and that's
why I'm moving this along. Michelle Lloyd-Puryear — I hope
I pronounced that correctly — Chief of the Genetic Services Branch
of the Maternal and Child Health Bureau.
MS. Lloyd-Puryear: Thank you.
And I'm just inviting you to come to the Advisory Committee
on Inheritable Disorders and Genetic Diseases in Newborns and Children,
who is actually overseeing many of the issues that you're talking
about around screening for newborns and children.
I'm the Executive Secretary. So you have my contact information.
So any of the concerns you have, focus concerns, come to us and
we'd be glad to discuss them with you and certainly the committee
would be glad to discuss any of the issues with you.
DR. ROWLEY: Can I ask for a point of information?
Because two or three or four years ago there was a proposal, and
I think through your institute of trying to do a major study of
collecting DNA in both children as they're born and in young
and families and trying to do a broadly based genomic screening
study. It's my impression that because of the size and the
complexity and the lack of agreement amongst various participants
that that proposal has not yet seen the light of day in terms of
actually becoming a functional study.
MS. Lloyd-Puryear: I'm at the Health Resources
and Services Administration. You're talking about an NIH study.
DR. ROWLEY: Right.
MS. Lloyd-Puryear: And you're right about
that, the National Children's Study.
CHAIRMAN PELLEGRINO: Yes, Dr. Botkin.
DR. BOTKIN: Yes, a little bit
of information. That study is up and running to the extent that
there are seven or eight vanguard centers around the country that
have been named. There is a protocol that is being developed, and
the plan is to follow 100,000 kids for 20 years, including DNA acquisition
early on and a variety of tests with some tissue banking.
And so it is a monumental study that remains to be fully funded
by Congress at this point.
CHAIRMAN PELLEGRINO: Any other comments?
CHAIRMAN PELLEGRINO: Well, thank you all very
much for your attendance, particularly the Council members.
(Whereupon, at 11:51 a.m., the meeting was adjourned.)