Fourth Meeting - Written Public Comments
April 21-22, 2005
Washington, DC

• Printer-friendly Written Public Comments

1.  Bennett Lavenstein, M.D.—Childhood Neurology Society (CNS)

2.  Jana Monaco, Parent & Board Member, Organic Acidemia Association

3.  Jill Fisch—Parent & National Director of Education and Awareness, Save the Babies Through Screening Foundation

4.  Micki Gartzke—Parent & Director of Education and Awareness, Hunter's Hope Foundation

5.  John Adams, Parent & President/Chief Executive Officer, Elivery Solutions, Inc.

6.  Peter Sybinsky, Ph.D.—Chief Executive Officer, Association of Maternal and Child Health Programs (AMCHP) 

7.  Scott Grosse, Ph.D.—Health Economist, National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention (CDC) 

8.  Jerry Vockley, M.D., Ph.D.—President, Society for Inborn Metabolic Disorders (SIMD)

9.  Frances P. Downes, Dr.P.H.—Board Member, Association of Public Health Laboratories (APHL)

10.  Jennifer Sullivan, M.S., C.G.C.—National Society of Genetic Counselors, Inc. (NSGC) 

11.  Philip R. Vaughn, M.D., M.B.A.—Vice President, Newborn Screening, Pediatrix Medical Group, Inc.

12.  Carol Greene, M.D.—Clinical Geneticist, University of Maryland and Membership Chair, Society for Inborn Metabolic Disorders (SIMD)

13.  Marilyn C. Jones, M.D.—President, American College of Medical Genetics (ACMG)

1. Bennett Lavenstein, M.D.

Statement to the HHS Advisory Committee

on Heritable Disorders and Genetic Diseases in Newborns and Children

April 21, 2005

I'm Bennett Lavenstein.  I'm a pediatric neurologist here in Washington at Children's Hospital.  In the interest of disclosure, I should tell you that I've had the pleasure of working with Dr. Rinaldo, and we've had some patients together over the years.  It's been certainly educational for me.

We, I guess, have the distinct situation in looking at this list of being involved with 28 of these 29 disorders.  I think the only one that we don't readily see on a daily or weekly or monthly basis is cystic fibrosis, speaking as a neurologist per se.  But from the standpoint of the Child Neurology Society, we certainly want to make the following statement and position, and that is that we certainly support national minimum standards for newborn screening for the specified genetic disorders, and for some disorders timely intervention for affected infants can certainly assure significant reduction in mortality and morbidity, and in all cases secondary prevention through genetic counseling can be offered and can be particularly efficacious.

I think that federal oversight is necessary in order for all newborns to have equal access to identification and interventions for these disorders, and in addition a combination of adequate federal and state funding should be allocated to initiate and sustain statewide programs and limit the long-term effects of these disorders.

Key elements to a successful newborn screening program I think include parent and health care provider education, and these programs should include parental notification and consent, timely screening and testing prior to birthing facility or hospital discharge, post-discharge follow-up, resources for appropriate referrals, accurate systems for data collection, policies to ensure patient confidentiality, and access to interventions and treatments.  In the event that state or federal policies institute some degree of mandatory testing, these requirements should not interfere with parents' rights to be informed of any and all procedures involving their newborns.  So mechanisms should be in place that are appropriate and address parents' options. 

Mandatory testing, counseling and follow-up requirements must be fully supported by designated federal funds, we believe, since the U.S. health care system currently either does not support such services in totality or perhaps does so somewhat inadequately.

As we know, every state has newborn screening.  It's one of the largest prevention programs in the country.  But certainly there's variability amongst the states, and uniformity is a sought goal.  A number of organizations obviously have played a major role in supporting this movement, and some 29 disorders which are on your list have been identified.  I don't think the national minimum standards will solve all of the ethical dilemmas or the cost concerns surrounding the current patchwork system where each state has different requirements for newborn testing.  However, creating national minimum uniform standards using evidence-based practice will ensure that all infants have early access to screening and treatment.

I think with regard to neurologic diseases, I can tell you that last week the American Academy of Neurology clearly moved forward with multiple new genes being described for many neurologic diseases.  Now they're trying to figure out which proteins they code for, which diseases they impact upon, and certainly it is a marriage of clinical experience, expertise and evidence-based medicine to bring all these things together to make it work, because in some conditions if we wait just for evidence-based medicine, it will take 10 years to figure out the impact of that disease. But thank you for the opportunity to participate.  It's a marvelous conference.

2. Jana Monaco

Parent & Board Member, Organic Acidemia Foundation

Statement to the Advisory Committee on Heritable Disorders

and Genetic Diseases in Newborns and Children

April 21, 2005

Good afternoon!  I am pleased to have the opportunity to once again speak on behalf of Expanded Newborn Screening.  As the parent of a child with Isovaleric Acidemia who fell victim to the lack of comprehensive newborn screening and suffered life long brain damage, along another child who is living a normal life with the same disorder because of early screening, I come with a strong passion to see the goals of the ACMG report attained and implemented.  It is enlightening to see how this report is helping to move states forward with newborn screening.  Having attended these meetings since last June and reviewed the report, I can only offer my full support along with fellow parents to help this report become a national standard for newborn screening.  We are so excited to not feel alone in or efforts and commend you for providing states with a wake up call to Expanded Newborn Screening.

Since the last meeting, I am proud to announce that Virginia passed a bill to expand our newborn screening program to 30 disorders beginning March 2006. The ACMG report influenced this process. They have also included language to allow the addition of other disorders when deemed necessary.  They are now in the process implementing the necessary changes to carry out the bill.  I have also been invited to be a state representative for our New York-Mid-Atlantic Regional Collaborative.  I am honored to participate in such a capacity as I highly value the importance of parent presence and input.  After all, we are the ones that manage and care for children with these disorders.  We are at the mercy of all of the professionals whether the policies and guidelines are effective or not. 

Our regional collaborative had its first meeting this past weekend.  I was one of two parents on the committee with another parent, in attendance. I am not a physician, health department worker counselor or technician.  However, as the parent of two affected children including one with multiple health issues, I wear many hats myself like my peers.  I can honestly say that I have mixed feelings about the meeting and I only speak from a parent’s perspective.  The meeting included a general overview of the regional and national status and a discussion of the six objectives dealing with laboratory and procedures, education and follow up.  There was a great deal of input from the committee and although there were numerous suggestions to achieving the objectives like telehealth systems, legislative advocates, and enhanced educational programs, there was a significant degree of barriers and problems expressed by the various committee members that hinder achieving these objectives.  Concerns included problems with back up labs for emergencies and the fact that labs do not all operate under the same policies.  The issue of reimbursement and fees was also expressed. 

Lab space and the fact that all labs are not able to accommodate the MS/MS equipment according to the manufacturer’s guidelines was yet another issue.  Of course, staffing is always an issue whether it is technicians or clinicians and how reimbursement is going to be handled.  As a parent, I had my own concerns which included the lack of knowledge within the medical community on these disorders and the lack of communication within our medical home. Guidelines or legislation for insurance company is another problem. We like numerous other families do not have coverage for metabolic medications because a form of them can be found in health food stores although they are not appropriate for our children’s medical needs. There is great disparity with formula coverage.  Many insurance providers do not recognize it as medical food and hence do not cover it leaving families to bare a great financial burden. Virginia’s new legislation does not include formula coverage.  This is an issue that needs to be addressed by the Advisory Committee.  These are just a few of the barriers that were discussed at the meeting.  However, I can highlight that regardless of the issues, it all came back to the need for improved training, education and technology whether it was in the technical or clinical setting. Of course, this raised the issue of reimbursement. There was unremitting concern about where the funding would come from. As a parent, I was not completely confident that the regional committee had an overall good understanding of how the report was going to assist the development of the newborn screening programs.  I feel as though the committee is supportive of the changes for the most part and will continue to work at the objectives, but has great concerns as to how to initiate the necessary changes and what kind of guidelines and assistance they will receive from the federal government. 

 I am confident that you will address these issues and help reduce the disparity that exists. I could not emphasize enough the value of parents.  We are a very resourceful group of individuals and have the advantage of open communication with one another.  We already educate, advocate, assist and translate.  For us, there is a personal stake at hand.  We are motivated by the wellbeing of our affected children and providing them with the best medical care possible.  Our advocating efforts are not determined by financial gains or determined by monetary parameters or fall into a set methodology, but rather prevention of potential tragedies that we all know occur. 

I wish to comment on a few item expressed earlier. I can attest that parents want to know what they are dealing with.  They would rather avoid the long dragged out diagnostic odysseys that affect the entire family creating immense strain.  It is much easier to learn a diagnosis early and incorporate it into life…cure or no cure, management or no management.  Parents are also interested in trials and data bases.  Parents with children affected with Methylmalonic Acidemia are knocking the doors down to get into the research program over at NIH.  We are currently doing a gene analysis on Stephen.  We know the disorder of IVA but are interested in helping to better understand the disorder and its mutations. 

Thank you for your continued efforts and for the realization that it is important to have a standard to help move forward with Newborn Screening.

3. Jill Fisch

Parent & National Director of Education and Awareness.

Save Babies Through Screening Foundation

Statement to the Advisory Committee on Heritable Disorders

and Genetic Diseases in Newborns and Children

April 21, 2005

Thank you for the opportunity to address the committee again today. I also want to express my sincere thanks and gratitude to the committee for their continued efforts and great successes I have seen over the last several months. The lives of many children have been saved and others will have a better quality of life because of your work.

My name is Jill Fisch. I am the National Director of Education and Awareness for the Save Babies Through Screening Foundation. I am addressing the committee as a parent of two children affected with SCADD. I am sure most of you will remember the diagnostic odyssey my family endured while looking for a diagnosis for my youngest child Matthew, who is now 4 years old. This odyssey took us all over the country over a two year period. Matthew did not benefit from early detection as New York was not screening for his disorder at the time. This is why I am here today and will continue to be committed to all children and newborn screening until all children in all states are treated equally and fairly.

Since New York’s expansion of newborn screening took place in the Fall, there have been two confirmed SCADD cases in the state. This shows that the system is working. As a member of the FOD Support Group, I have seen an increase in children who have received the benefit of early detection from newborn screening.  The combined efforts of parents and the anticipated recommendations from this committee have caused many states to expand their newborn screening programs, however other states are not at that point. States such as West Virginia and Arkansas are two of several who have yet to move forward on expansion. Hopefully, these other states will expand in anticipation of the Secretary accepting this committee’s recommendations.

However, it appears as though there is a serious situation regarding the expansion of newborn screening in Texas. House Bill 790 was been presented to the Public Health committee and is due to be forwarded to the entire House for voting the week of April 18^th, if passed, 19 disorders would be added to the panel. Unfortunately, Pediatrix Screening and others worked with two representatives from San Antonio to create House Bill 3325. I was told that it was created to undermine House Bill 790. Sponsored by Carlos Uresti and Jose Menendez, this bill discards the recommendations of the ACMG report and the March of Dimes and asks for a panel to be convened in order to decide what Texas should screen for. It would take two more years before expanded screening to be passed in Texas. Advocates in Texas feel that this bill was written by Pediatrix solely for the purpose of delaying the passing of House Bill 790 so that Pediatrix would get an opportunity to perform newborn screening services in that state. I do understand that Pediatrix is a business, however I am concerned that such pressure can be exerted from an outside source that could cause great harm to the children of Texas. Everyone involved needs to work together to address these issues, instead of working against each other.

I am open to hearing both sides and would hope, as a parent, that somehow this can be resolved to everyone’s satisfaction. Pediatrix does run a great lab and I do feel some states would benefit from their services. If Texas is looking to build a new lab, hire and train new personnel—babies will not be getting comprehensive screening in just a few months. We all know this takes time. Texas should contract with an outside lab to screen babies supplementally until their state lab is ready to handle everything. They are not doing any out sourcing and they have Baylor right in their own backyard. In the meantime, there needs to be concern for the affected children who will be born in the meantime.  However as I said we all need to work together. I would appreciate any insight on this issue that can be given to me by the committee.

I am very excited to see the new research and test development taking place. New York is running a pilot program for lysosomal storage disorders and other tests are being developed which will save the lives of our children. How will the committee review new tests and technologies? I am very interested in learning what the committee’s plans are in this regard. We are already seeing great progress with HRSA’s commitment to newborn screening through the committee’s recommendations strengthened by the success to date of the National Newborn Screening Coordinating Center and Regional Collaboratives.

As you know, SCADD is one of the disorders on the secondary panel in the ACMG report. I have not seen a natural history study done for SCADD which is one of the criteria in order to be added to the core panel. If these studies are not done, how can the committee help to get these studies implemented? My family is participating in the collection of data needed for a natural history study under Dr. Vockley as we have three affected generations in my immediate family. I am happy to share this data with the committee as it becomes available. When there is more data collection and sharing of this data, we can track treatment and its efficacy. As we all know the need for research and test development is imperative. I am looking forward to seeing the methodologies recommended by this committee for reviewing these tests and technologies and in turn, the benefit it will bring to the children. How will this be structured by the committee? How will these new tests and technologies be reviewed? How will translational research be recommended and evaluated?

I am concerned about the follow up of children once they are picked up by the newborn screen. These children need to be followed by different specialists, nutritionists and therapists. We need to develop collaborative partnerships between primary care providers, genetic and/or specialty care providers and health insurers to ensure continuity of medical care for children identified with disease by the newborn screening programs, within the medical home, which is an objective of HRSA and the NY-Mid Atlantic Consortium for Genetic and Newborn Screening Services. This is an issue that I will be following closely. I feel this needs to include children who did not benefit from early detection. How will the children be followed especially in a state like New York, where the metabolic centers do not have the proper funding? There needs to be a follow up system in place to assure that no child falls through the cracks and every child gets what they need. Drawing on my own experiences as a parent of a child who was not diagnosed through newborn screening, I feel very strongly that there be a follow up system in place for these children as well. With a national database where information could be entered and tracked regardless of whether or not diagnosis came as a result of newborn screening, we would have a much clearer picture of how well the children are being treated.

There is a situation in Missouri that has been brought to my attention. The Missouri Senate and House of Representatives have voted to accept the Governor’s budget recommendations and the budget will now go back to the Governor who will determine which cuts will be incorporated into the Missouri budget 2005-2006. With these budget cuts, the Governor is looking to close the Outreach Clinics immediately. The funding provides salary support for Genetic Counselors who can not bill their time, as well as transportation to Outreach Clinics. Without the proper funding, the numbers of families served each year will be substantially decreased. In addition, genetic counseling and follow up for families throughout Missouri will no longer be provided. How can this be addressed by the committee?

I also would like to state for the record my concern over the ethicists who have been very vocal in the past few months in speaking out against newborn screening. I do feel that everyone is entitled to give their opinions freely, however I would hope that their concerns would be based on valid and current information. Newborn screening saves lives. I do not think that is a fact that can be disputed.

As a parent and committed advocate for newborn screening, I feel it is imperative to have parents serve on the HRSA sub committees. We have lived and breathed this every day and have much to offer. This is a very special role that the sub committees need. Public involvement is crucial.  The value of our input is unmatchable. Parents have played an important role at both federal and state levels.  There needs to be assurance by this committee that parents will be included in these sub committees. We have shown and will continue to show our dedication and support of this committee.

Thank you for the opportunity to share my thoughts today. I look forward to hearing answers to my many questions as the committee moves forward. It is my great hope that we can all work together to better the lives of our children.

Jill Levy Fisch

National Director of Education and Awareness

Save Babies Through Screening Foundation

SCADD Family

914 588 1127

jill@savebabies.org

4.  Micki Gartzke

Parent & Director of Education and Awareness, Hunter’s Hope Foundation

Statement to the HHS Advisory Committee

on Heritable Disorders and Genetic Diseases in Newborns and Children

April 21, 2005

Good afternoon, Mr. Chairman and Members of the Advisory Committee on Heritable Disorders and Genetic Diseases in Newborns and Children. Thank you for this opportunity to address the committee once again. Your work over the past several months have already helped to not only improve the quality of children’s lives, it has also helped to save the lives of many children. For this you all have my deepest gratitude!

My name is Micki Gartzke. I continue to be committed to the expansion of newborn screening. I am greatly committed to the value of, and the great need for education on newborn screening for professionals and families alike so that children receive the greatest access to equitably distributed newborn screening. This would ensure all children’s right to an equal start to a healthy life.  As a mom who has lost a child to lack of early detection, my commitment began the day I was told , “Your daughter has a fatal illness and the average life expectancy is 16 mos.” She was 10 mos. old at that time.

A brief moment to refresh why I am here… my daughter died of Krabbe disease, a Lysosomal Storage disorder. Our family endured a 6 month diagnostic odyssey only to have it end with that fatal prognosis, and a but… like,” but if we had known earlier, there is a therapy now out there, but it is too late now. These are words no parent should hear, especially when they are holding their 10- month old baby in their arms and the baby is smiling at them. Just thinking about that brings a momentary flashback to the moment I learned that my daughter would soon die. I was told this on August 7, 1997, my birthday. I knew at that moment that I would be committed to doing anything and everything in my power to prevent this from happening to other families. I know I do not need to tell you this. Yet, it is important for it to be said! As the Director of Education and Awareness for Hunter’s Hope Foundation, my professional role has provided an excellent avenue to best achieve this personal commitment.

I am enthused and excited by the changes I have seen in newborn screening lately. It seems as if a ground swell has taken place in some states because of actions this Committee has taken. Each month there have encouraging changes in different states now expanding their newborn screening programs.

A good example that comes to mind is KY. KY recently had its NBS Bill passed and the Legislation signed by the Governor with the funding already set aside. This expansion is due to begin this July and will increase screening from only 4 diseases to... tests for heritable disorders including, but not limited to, phenylketonuria (PKU), sickle cell disease, congenital hypothyroidism, [and] galactosemia, medium-chain acyl-CoA dehydrogenase deficiency (MCAD), very long-chain acyl-CoA deficiency (VLCAD), short-chain acyl-CoA dehydrogenase deficiency (SCAD), maple syrup urine disease (MSUD), congenital adrenal hyperplasia (CAH), biotinidase disorder, and cystic fibrosis (CF), 3-methylcrotonyl-CoA carboxylase deficiency (3MCC), 3-OH 3-CH3 glutaric aciduria (HMG), argininosuccinic acidemia (ASA), beta-ketothiolase deficiency (BKT), carnitine uptake defect (CUD), citrullinemia (CIT), glutaric acidemia type I (GA I), Hb S/beta-thalassemia (Hb S/Th), Hb S/C disease (Hb S/C), homocystinuria (HCY), isovaleric acidemia (IVA), long-chain L-3-OH acyl-CoA dehydrogenase deficiency (LCAD), methylmalonic acidemia (Cbl A,B), methylmalonic acidemia mutase deficiency (MUT), multiple carboxylase deficiency (MCD), propionic acidemia (PA), trifunctional protein deficiency (TFP), and tyrosinemia type I (TYR I). 

KY’s Newborn Screening Act also includes language for adding additional diseases in the future, based on the recommendations of this committee. The language is as follows, “The listing of tests for heritable disorders may be revised to include conditions as deemed appropriate by the cabinet based on the recommendations of the American College of Medical Genetics.”

KY has seen that it is in the best interest of the state and its children to make this commitment to expand NBS. This state’s progress is an example of combined efforts of doctors, legislators, industry, professional groups and a shining example of the important role parents play in this process. I was closely involved in every aspect of this process, this shows how change can happen with strong collaborative efforts and parental support.

States that have not yet expanded, such as Arkansas, Oklahoma, and New Mexico, amongst others, need guidance and assistance from this Committee as the struggles for education, infrastructure, development, follow-up and training continue alongside the ever-steady funding issues. Too many states not yet proactive and it is my hope is that all states will follow this Committee’s recommendations.

It is exciting to see the research and test development taking place for many different diseases. The Lysosomal Storage Diseases NBS Pilot in NY State is currently underway. This Pilot program is also an excellent example of the teamwork that is truly needed to accomplish such visionary goals. State, industry, research and advocacy groups are working collaboratively to achieve this common goal of newborn screening for this first round of LSDs. The addition of new screening tests to the core panel in the future will save even more babies lives.

The need for more ongoing research and test development will and must continue! Complementing that is the need for ongoing methodology for reviewing tests and technologies. I have many questions regarding these subjects. How will the Committee structure this? How will it review these new tests and technologies? How will it recommend and evaluate translational research? HRSA’s commitment to newborn screening is already yielding great success through this Committee’s recommendations, the Regional Collaboratives, and the NNBSGRC.

Follow-up of diagnosed children is vital, as is access to the variety of medical professionals and services they need so they will continue to thrive.. Today I saw the State budget in Missouri put in jeopardy a key point of delivery of services.  What additional educational efforts and methodologies will be used to accomplish this effectively.

I am concerned about the ethicists who continue to speak against newborn screening, especially those whose media contacts have been responsible for large articles in national newspapers. I have met with a couple of ethicists and while I believe they express great interest in the children and they have the right to fully express their opinions, I hope that they base these concerns not only on valid information with citable sources, but on current information as well.  We all know newborn screening saves lives!

A Dartmouth Medical School telephone survey of 500 people was published in USA Today. The survey showed that 66% of people ages 40 and older say they would be willing to be tested for an incurable cancer, thus showing their desire for Early detection. I can’t help but wonder if a similar poll were done about the early detection of newborn screening if the same 2/3 majority would express a similar desire for early detection?

Education still remains the key component. We need better systems for educating medical schools, health professionals and families about newborn screening. The future health professionals in our country need to be educated on the diseases that will be detectable through newborn screening. This will help to expand the number of specialists we need to help treat the children.

Public involvement in Committee matters is a must – especially parents who have lived through the lack of early detection and access to treatment. The parents who have had the misfortune to experience the diagnostic odyssey and ensuing challenges of lifelong disabilities and or premature death have real world experience and first hand knowledge that needs to be recognized, heard and considered in moving forward from this point. Our experience and knowledge is invaluable. We are representatives of the market. I cannot emphasize enough my next point, and I will not rest until there is assurance by the Committee that parents will be included on the subcommittees! Parents deserve a role since they are the ones affected.

I know you will make the right choice on this, just as you have done on many other matters. I am confident that this Committee values the needs of the children above all else!

Micki Gartzke

Director of Education and Awareness

Hunter’s Hope Foundation

Orchard Park, NY

Mom to LeA (1996-1998)

4075 Stowell Ave.

Shorewood, WI 53211

414-332-32338

5. John Adams

 Parent & President/Chief Executive Officer, Elivery Solutions, Inc.

Statement to the Advisory Committee on Heritable Disorders

and Genetic Diseases in Newborns and Children

April 21, 2005

I am a PKU dad.  Thanks to Bob Guthrie and a lot of other people who fought the battles for newborn screening in the 1960s.  I'm happy to be able to share with you the fact that my son, who is 18, graduates from high school this year and has been admitted, hopefully, to the University of Toronto for this fall.

I got reengaged in this issue a couple of years ago when there was a bit of a crisis in our PKU community in Ontario, my home province, because there was a threat to the funding for the Adult Program for Medical Foods and Formulae.  That's still not completely resolved, but some very capable people in Canada taught me some lessons, saying John, if you're going to engage in that issue, we've got to let you know about some other issues, some other gaps in the system of newborn screening.  It tears my heart out as a parent who has a newborn screening success story to know that there are babies in many jurisdictions, not just America, who are dying or being damaged needlessly.

I have to tell you, I'm a proud Canadian, Torontonian and Ontarian, but I do believe in evidence-based decision-making, and I want to give you a little bit of an international perspective here today.  Perhaps I'm the only one who is adding that flavor here today.

In Ontario, it's sad to report that we screen newborns for three conditions:  PKU, congenital hypothyroidism, and hearing.  Compared to any of the American jurisdictions, that is substandard.  There is none of your jurisdictions today that are screening for as few as that.  Ontario is not alone.  We only have one province, Saskatchewan, that is screening for 29 conditions using tandem mass to a relatively fulsome extent.

I also have to report to you that our federal government is AWOL on the question of newborn screening.  I also, in one of life's ironies, have to report that the doc who delivered my PKU newborn-screened son is now the Minister of State for Public Health for Canada.  She owes newborn screening something, and I intend to collect that debt. Dr. Caroline Bennett.

My sense in reading all of the 324 pages of the report was that it was a snapshot of the state of the art, the best available evidence, not yet perfected.  I also have to report to you that the inherited errors of metabolism professional community in Ontario and in Canada are at their wits' end with frustration at trying to move the agenda forward and have, as a group, all resigned from the Province of Ontario's Advisory Committee on Newborn Screening out of sheer bloody frustration.

I'm delighted to be able to participate in this open forum today.  The Ontario government's Advisory Committee on Genetics is meeting today behind closed doors.  They do not publish their meetings.  They do not publish minutes.  They do not take public presentations.  So I'm here to salute you for the openness of the American way of doing business.

Now, I say that because not everyone outside of America thinks that the American model is the way to go.  You may have noticed that.

Now, as recently as yesterday, I had a meeting with the cabinet minister in the Province of Ontario in his office about the deficit in newborn screening in our jurisdiction, and one of his assistants, a very bright person, raised in a premeeting, well, what about the lack of consensus? So I'm here to tell you that my counter point was I put down on the table 324-page report of American College Medical Genetics and said do believe there is a new threshold consensus, including consensus identifying when lack in certain situations.

You have already performed yeoman service for us in being able to address that, and I want to say thank you as a Canadian for the American taxpayers' investment in a number of things, including the National Newborn Screening and Genetics Resource Center, which is a wonderful source of information for people like me.  So thank you so much.

I do have a suggestion or two.  I hope as you move forward that you do not focus exclusively in your decision-making on what's best for America but you also have some regard for the role model in this field that you are performing for people in other jurisdictions.

I also would make the suggestion that the report correctly identifies the growing problem of the lack of person power in terms of the deep talents that are required increasingly in this field.  You might want to give some consideration to having HRSA support the development of smart systems so that we can, with authoring systems, try to capture the deep knowledge that is involved in the craniums of some of the people around this table and other experts and getting it into a more accessible format so that high levels of service can be rendered to children and adults in need without requiring the scarce knowledge, the scarce supply of that deep knowledge.  We have to find a way to democratize and push down into the system the ability to put the intelligence and best practice available at the hands of a clinician when there's a child or an adult who is in a period of crisis. I have a few ideas about that I will explore offline.

Thank you very much for this opportunity.  I love this committee.  I love this report.

6.      Peter Sybinsky, Ph.D.

Chief Executive Officer, Association of Maternal and Child Health Programs

Statement to the Advisory Committee on Heritable Disorders

and Genetic Diseases in Newborns and Children

April 21, 2005

April 12, 2005

Michele Lloyd-Puryear, MD, PhD

Maternal and Child Health Bureau
Health Resources and Services Administration
5600 Fishers Lane
Parklawn Building, 18A-19
Rockville, MD 20857

Dear Dr. Puryear: 

The Association of Maternal and Child Health Programs (AMCHP) commends the Secretary’s Advisory Committee on Heritable Disorders and Genetic Diseases in Newborns and Children for their hard work addressing the important issue of newborn genetic and metabolic screening.  The American College of Medical Genetics (ACMG) report, Newborn Screening: Toward a Uniform Screening Panel and System, recently released by the Maternal and Child Health Bureau, is an exceptional example of compiling expert opinion and evidence-based research to form national recommendations. 

AMCHP represents state public health leaders who promote the health of America’s families. Our members come from the highest levels of state government and include directors of maternal and child health programs, directors of programs for children with special health care needs, adolescent health coordinators, other public health leaders and parents. These programs are funded in part by the Maternal and Child Health Services Block Grant, Title V of the Social Security Act of 1935, which is the only federal program devoted to improving the health of all women, children, youth and families. AMCHP members serve over 1 million children with special health care needs, many identified by the newborn screening programs they administer.  Although state newborn screening programs vary among states, most Title V programs ensure follow-up and access to health services for children.    

AMCHP applauds the comprehensive approach to evaluating the 84 conditions, recognizing the need for a public health system that includes policies and standard but also allows for some flexibility, and addressing newborn screening system components in addition to laboratory testing.  However, state Title V programs have concerns regarding information that was not addressed in the report. 

The findings outlined in the ACMG report have a considerable impact on the follow-up requirements of state MCH programs.  Due to the broad obligations of state Title V programs, AMCHP believes the report inadequately discusses the extensive state responsibility for providing follow-up.  In addition, the report does not provide a definition of follow-up to guide future state efforts.  The report neglects to acknowledge the significant commitment and financial responsibility of newborn screening programs to ensure access to re-screening, specialty care and long-term tracking and monitoring of children and their families.  State newborn screening programs consist of numerous agencies and professionals including, but not solely laboratories.  State Title V programs hold the ultimate responsibility for meeting state mandates for assuring screening, re-screening, notification, access to medical and developmental specialists, and long-term tracking of children with metabolic or genetic disorders.  The Secretary’s Advisory Committee should carefully review the implications of the uniform panel on follow-up and develop national recommendations to provide the needed assistance to meet the demand equally across states. 

State newborn screening programs continue to build the basic infrastructure for a complete system, including adequately trained professionals to provide screening and follow-up, data systems to track the progress of children, and educational materials for professionals and families.  However, states are building a system with limited financial support that is inadequate to meet current demands.  The report however, remains silent on financing of the uniform panel.  The addition of new technologies, testing requirements, reporting requirements and follow-up services adds to programs’ financial strains.  The Secretary’s Advisory Committee should develop, with the assistance of state programs, recommendations to provide adequate funding to meet the ACMG recommendations.  The recommendations should consider new funding options for states and propose changes to other financing structures that pay for newborn screening systems. 

Finally, the ACMG report provides an evidence–based structure for how their recommendations were developed that may provide state programs the needed information to change their newborn screening systems.  However, the report recommended but did not provide guidance for an ongoing federal system for evaluating new conditions or new technologies as they become available.  The Secretary’s Advisory Committee should develop a procedure for nationally adopting additional conditions to the uniform panel. 

Once again, AMCHP supports the intent of the Secretary’s Advisory Committee and much of the information provided by ACMG.  This helpful report was needed and will provide a foundation for states to consider as they examine their newborn screening systems.  As the Secretary’s Advisory Committee moves forward, AMCHP would welcome the opportunity to designate a representative to provide the Committee a state MCH program perspective. 

If you have questions or would like more information, please do not hesitate to contact Meg Booth at AMCHP at (202) 775-0436 or mbooth@amchp.org. 

Sincerely,

/S

Jeffrey Lobas, MD, MPA

President

7.  Scott Grosse, Ph.D.

Health Economist, National Center on Birth Defects and Developmental Disabilities

Centers for Disease Control and Prevention (CDC)

Statement to the Advisory Committee on Heritable Disorders

and Genetic Diseases in Newborns and Children

April 21, 2005

Scott Grosse, PhD

Centers for Disease Control and Prevention

Atlanta, Georgia

Remarks for public comment session, Secretary’s Advisory Committee on Heritable Disorders and Genetic Diseases in Newborns and Children, April 21, 2005

I am a health economist with the National Center on Birth Defects and Developmental Disabilities at CDC and work with Coleen Boyle on newborn screening issues. I would like to respond to the question that Piero Rinaldo asked earlier about specific objections to the ACMG report. CDC has a number of specific objections, and I will give just a couple of examples. We are concerned that certain statements in the fact sheets may be inaccurate or misleading. Our focus is on the more common disorders, not the relatively rare ones for which data are lacking. In particular, we have concerns with the fact sheets for congenital adrenal hyperplasia (CAH), cystic fibrosis (CF), hearing loss, hemoglobin SC disease, and medium chain co-A dehydrogenase (MCAD) deficiency. I will mention just some of the issues with the CAH fact sheet. First, the fact sheet states with regard to presence of the phenotype that “Males are usually undetected”.  In fact, newborn screening programs such as the one in Texas report that the majority of males with classic CAH are detected on the basis of symptoms prior to the reporting of newborn screening results, as documented in a 1998 article by Brad Therrell and colleagues. Second, the fact sheet states that 9% of children with CAH die without screening and early intervention. No original study is cited to support that estimate. A review of the epidemiologic literature on CAH conducted at CDC found that the reported death rate in unscreened CAH cohorts ranges from 2% to 9%. The 2% estimate comes from a historical Swedish study by Thilen and colleagues (1990). Two other studies, that involved smaller cohorts, found no deaths in unscreened cohorts with CAH despite careful case ascertainment. The fact sheet does not reflect the range of evidence in the scientific literature. 

8.  Jerry Vockley, M.D., Ph.D., President

Society for Inborn Metabolic Disorders (SIMD) Statement to the Advisory Committee on Heritable Disorders

and Genetic Diseases in Newborns and Children

April 21, 2005