Summary of Tenth Meeting
May 17-18, 2007
Washington, DC

Printer-friendly Summary of Tenth Meeting

CONTENTS

I. WELCOME, OPENING REMARKS.

II. PROCESS FOR NOMINATING/EVALUATING CANDIDATE CONDITIONS FOR THE NEWBORN SCREENING PANEL.

1. Proposal for an External Evidence Review Group (ERG)
2. Cover Letter for the Nomination Form

III. LONG-TERM FOLLOWUP AND TREATMENT IN NEWBORN SCREENING

1. Update on the Followup & Treatment Subcommittee’s Activities and April 2007 Meeting on Long-Term Followup in Newborn Screening
2. Draft Position Paper on Long-Term Followup in Newborn Screening

IV. NATIONAL INSTITUTES OF HEALTH’S RESEARCH  ACTIVITIES RELATED TO NEWBORN SCREENING

V. REGIONAL COLLABORATIVES’ LONG-TERM FOLLOWUP PROJECTS

1. Region 4 Genetics Collaborative: Adaptive Turnaround Documents, Newborn Screening, and the Medical Home
2. Region 3/Southeastern Regional Genetics Group: Newborn Screening Long-Term Followup Project
3. Region 3/Southeastern Regional Genetics Group: Followup Initiatives Related to Sickle Cell Disease

VI. UPDATE ON THE STATUS OF STATE NEWBORN SCREENING PROGRAMS AND REPORT ON TWO MEETINGS

VII. COMPREHENSIVE NEWBORN SCREENING FOR INFANTS IN THE MILITARY HEALTH SYSTEM

VIII. COMMITTEE BUSINESS—SUBCOMMITTEE MEETINGS & REPORTS

1. Followup & Treatment Subcommittee Report
2. Laboratory Standards & Procedures Subcommittee Report
3. Education & Training Subcommittee Report

IX. STANDARD OPERATING PROCEDURES FOR THE ADVISORY COMMITTEE

1. Substitute Section D on Nonvoting Organizational Liaison Representatives
2. Appropriate Mechanism for Representation from Industry
3. Consideration of Specific Organizations’ Requests to Send Nonvoting Liaison Representatives

X. REGIONAL COLLABORATIVES’ PROJECTS TO IMPROVE LABORATORY PERFORMANCE IN NEWBORN SCREENING

1. Region 4 Genetics Collaborative: Laboratory Quality Improvement in MS/MS Newborn Screening
2. Region 6/Mountain States Genetics Regional Collaborative:  Improving the Quality of Newborn Screening by MS/MS

XI. FEDERAL LEGISLATION: AN UPDATE

XII. PUBLIC COMMENT SESSION

XIII. COMMITTEE BUSINESS

APPENDIX A:  WRITTEN PUBLIC COMMENTS

I. WELCOME, OPENING REMARKS

• Process for nominating and evaluating conditions for inclusion on the uniform newborn screening panel. Dr. James Perrin would present a proposal for the structure and process for the new external Evidence Review Group (ERG) that will be involved in the process for adding conditions to the uniform newborn screening panel. The ERG will be cochaired by Dr. Perrin and a Committee member.
  
  
• Long-term followup after newborn screening. Dr. Boyle and Dr. Alex Kemper would report on the April 2007 workgroup 1-day meeting on long-term followup for newborn screening.
  
  
• Activities of the HRSA-Funded Regional Genetics and Newborn Screening Collaboratives:
  
  
  • Dr. Stephen Downs, Dr. Rani Singh, and Dr. James Eckman would report on long-term followup projects related to newborn screening undertaken via two HRSA-funded Regional Genetics and Newborn Screening Collaboratives: the Region 4 Genetics Collaborative and the Region 3/Southeastern Regional Genetics Group (SERGG).
    
    
  • Dr. Rinaldo and Dr. Marzia Pasquali would report on projects to improve the performance of newborn screening by tandem mass spectrometry (MS/MS) in two Regional Genetics and Newborn Screening Collaboratives:  the Region 4 Genetics Collaborative and the Region 6/Mountain States Genetics Regional Collaborative Center.
    
    
• Report on the status of the States with respect to newborn screening. Dr. Brad Therrell would give the Committee an update on the current status of State newborn screening programs and report on two recent meetings related to newborn screening.
  
  
• Report on newborn screening at the Department of Defense. Dr. Louder would report on the newborn screening program at the U.S. Department of Defense.
  
  
• Federal legislative update. Mr. Emil Wigode from the March of Dimes Birth Defects Foundation would provide an update on Federal appropriations and authorizing legislation of relevance to the Advisory Committee.
  
  
• Subcommittee meetings and reports. The Advisory Committee’s Education & Training Subcommittee, Followup & Treatment Subcommittee, and Laboratory Standards & Procedures Subcommittee would meet on Thursday, May 17, 2007, and give reports to the full Committee on Friday, May 18, 2007. All of the subcommittee meetings would be open to the public.

Committee Correspondence. Letters were sent to the Secretary’s Advisory Committee from several organizations requesting formal representation on the Committee as a nonvoting liaison representatives: (1) the American College of Medical Genetics (ACMG); (2) the Society for Inherited Metabolic Disorders (SIMD): (3) Pediatrix Medical Group; and (4) PerkinElmer Life and Analytical Sciences, Inc. (included under TAB #5 in the binder prepared for the May 17-18, 2007, Advisory Committee meeting). Dr. Howell asked Committee members to review the letters so that they could come to some decision about them later in the meeting when standard operating procedures for the Committee were discussed. 

Approval of Minutes. The minutes from the December 18-19, 2006, meeting of the Advisory Committee on Heritable Disorders and Genetic Diseases in Newborns and Children were approved.

Meeting Dates for 2008. Dr. Lloyd-Puryear said that dates for May and September 2008 meetings have not yet been set and asked Committee members to indicate on calendars provided in their binders (TAB #17) which dates they would not be available.

II. PROCESS FOR NOMINATING/EVALUATING CANDIDATE CONDITIONS FOR THE NEWBORN SCREENING PANEL

James Perrin, M.D.
Professor of Pediatrics, Harvard Medical School
Director, MassGeneral Hospital Center for Child and Adolescent Health Policy
Director, Maternal and Child Health Bureau Evidence Review Group, Systems of Care for
Children and Youth with Special Health Care Needs

Dr. Perrin presented a proposal to the Advisory Committee for the structure and process for the Evidence Review Group (ERG) to be involved in the nomination and evaluation process for candidate conditions on the uniform newborn screening panel. The proposed ERG, he emphasized, would not make recommendations to the Advisory Committee. The primary role of the ERG would be to review the evidence relevant to the Advisory Committee in making recommendations about which conditions to add or remove from the uniform newborn screening panel recommended by the American College of Medical Genetics (ACMG).

Composition of the ERG. Participants at an October 23, 2006 meeting convened to think through strategies for developing better evidence for the Advisory Committee's use in evaluating conditions for inclusion in the uniform newborn screening panel. They recommended that the ERG consist of a core evidence group staff with a project director who is knowledgeable about epidemiology/methods; a consumer; someone representing public health, someone with experience in economic assessment; and someone who brings content expertise in genetics). The full Advisory Committee, including some members who would be regular participants, would assist the core ERG. Individuals with ad hoc expertise in the disorder or specific tests under consideration or in methods would also assist the core group. Dr. Perrin said a clear conflict-of-interest policy would be established for ERG participants. In addition, an external advisory group for the ERG would be created to bring additional expertise in review methods, in genetics, and among health care providers.

Tweaking the Nomination Form. The process approved by the Advisory Committee for nominating and reviewing conditions involves three steps:    

• Step #1:  Nomination form submitted by proponent(s) of adding a condition
  
  
• Step #2:  Federal administrative review of the nomination form
  
  
• Step #3:  Review by the Secretary’s Advisory Committee on Heritable Disorders and Genetic Diseases in Newborns and Children

1. Advisory Committee review
   
   
2. Evidence-based review by an external ERG
   
   
3. Advisory Committee review and decision

The nomination form approved by the Committee provides some evidence relevant to four questions: (1) does the information clearly define a disease (in different populations); (2) what is the prevalence of the disease (in different populations); (3) can the condition be identified reasonably well in screening; and (4) are there actions after screening that can lead to positive outcomes? 

Participants at an October 23, 2006, meeting convened to think through strategies for developing better evidence for the Advisory Committee's use in evaluating conditions for inclusion in the uniform newborn screening panel generally affirmed the Advisory Committee’s proposed nomination form and process (as reported to the Committee in December 2006), but they agreed that some refinements to the form by the ERG and Advisory Committee will be necessary.

To help refine the nomination form, the ERG will seek greater clarity with members of the Advisory Committee about the definitions of terms such as accuracy (test), available (test), efficacy (treatment), and urgency (treatment). The ERG also will seek advice from the Committee about what constitutes the minimum sensitivity and specificity of newborn screening tests. The ERG will raise issues about the evidence regarding costs, which are not on the current nomination form, as well as issues related to potential harms of screening.

In some instances, a nomination form submitted may be submitted to the Advisory Committee and the Advisory Committee may decide that there is not enough information about the specific condition, test, or treatment to move forward. In such instances, the ERG could help the Committee determine what pilot studies might be appropriate to gather additional data needed to go forward (e.g., testing and treating a condition in one State using another State as a control; better evidence of prevalence; screening effectiveness in population application). 

The ERG’s Evidence Review Process. The ERG would review evidence on the following: (1) the condition (prevalence, natural history, different forms of the condition); (2) screening and diagnostic testing; and (3) treatment (risks, benefits, applicability to what condition groups). The ERG would use a decision analytic framework to address risks and benefits. It would indicate clearly where evidence is absent and what information would be most critical in trying to help the Advisory Committee make decisions or recommendations.

Several issues arise in reviewing the evidence on screening for heritable disorders that the ERG will have to keep in mind. First, the ERG will not be doing a traditional level-of-evidence approach, because most of the conditions that one might screen for are extremely rare, and there are no randomized controlled trials. Second, information on costs and benefits is limited, especially if one considers all potential outcomes true and false positives and true and false negatives. Third, much of the evidence that will be available to the ERG is not published literature. Thus, it will be very important for the ERG to develop a systematic strategy for determining (a) how to assess unpublished literature, and (b) how to access unpublished literature (e.g., Food and Drug Administration data on trials for some of the drugs and proprietary data from some of the companies that are developing new treatments for some of the conditions).

The hope is that work by the ERG to frame any remaining questions on the nomination form would begin immediately. Then, at the September 2007 Advisory Committee meeting, conditions for in-depth systematic reviews would be prioritized (current nominations and possibly additional solicitations from the community). If all goes well, the ERG could then carry out evidence-based reviews to have them ready for the Advisory Committee at its meeting in the spring of 2008.

Questions & Comments

After a few questions, Dr. Howell commended Dr. Perrin and his group on their work and stated that he believed the Committee should encourage them to move ahead with plans for the ERG as Dr. Perrin described. There was no objection. Dr. Howell asked Dr. Rinaldo and Dr. Brower to serve on the ERG as liaison members from the Advisory Committee on Heritable Disorders and Genetic Diseases in Newborns and Children.

• DECISION #1:  Dr. Perrin will proceed with plans for the external Evidence Review Group (ERG) as described, and the process of nominating and reviewing conditions for inclusion on the uniform newborn screening panel will begin. Dr. Rinaldo and Dr. Brower will serve on the ERG as the Advisory Committee’s liaisons.

Dr. Howell asked Advisory Committee members for their comments on the draft of a cover letter to go to people nominating conditions to the uniform newborn screening panel. The draft cover letter, developed by Dr. Nancy Green and Dr. Marie Mann, was included in TAB #6 of the materials given to Advisory Committee members for the meeting. 

Ms. Terry suggested broadening the conflict-of-interest portion of the form and said she would give her comments to the Committee later. Dr. Rinaldo recommended adding a paragraph encouraging people to nominate a condition using a team approach that involves patient advocacy groups, clinicians, researchers, labs, etc., rather than having separate individuals submit nominations.

Several people worked on draft language for the paragraph related to the use of a team approach, and after some discussion, Committee members reached a consensus about what language to include.

• DECISION #2: The following language will be added as the second paragraph of the cover letter to accompany the nomination form for candidate conditions on the uniform screening panel:  ACHDGDNC encourages the preparation of the nomination form by a multi-disciplinary team effort. This team effort should reflect the provision of evidence by both advocacy and professional organizations and individuals with expertise on the condition being nominated and other issues relevant to newborn screening.

III. LONG-TERM FOLLOWUP AND TREATMENT IN NEWBORN SCREENING

Dr. Boyle and Dr. Alex Kemper reported on the Advisory Committee’s Followup & Treatment Subcommittee’s ongoing efforts to identify the elements of long-term followup and treatment in newborn screening and to develop a position paper on the topic for presentation to the Advisory Committee and possible publication.

Coleen Boyle, Ph.D., M.S., Committee Member
Director, Division of Birth Defects and Developmental Disabilities
Division of National Center on Birth Defects
 and Developmental Disabilities
Centers for Disease Control and Prevention

Dr. Boyle summarized the April 18, 2007, workgroup meeting organized by the Advisory Committee’s Followup & Treatment Subcommittee entitled “The Roadmap to Implement Long-Term Followup and Treatment in Newborn Screening.”  A summary of the meeting was included under TAB #7 in the binder prepared for Advisory Committee members.

As background, Dr. Boyle noted that the Followup & Treatment Subcommittee has focused for about the past year on the issue of long-term followup (including treatment) after newborn screening. Although there are a number of guidelines related to short-term followup after newborn screening, there is little guidance in the area of long-term followup and existing definitions and goals of long-term followup vary. For that reason, the Followup & Treatment Subcommittee has decided to try to step back and consider what long-term followup is and what the goals of long-term followup are.

The April 18^th workgroup meeting on long-term followup and treatment in newborn screening was convened to discuss a draft position paper prepared by Dr. Alex Kemper, Dr. Stephen Downs, and Dr. James Figge that set forth (a) a working definition of long-term followup; (b) the goal(s) and major components of long-term followup and treatment; and (c) major participants/systems in long-term followup. Participants at the meeting represented the major perspectives/systems impacted by long-term followup (individuals/families, primary care, specialty care, public health, financial and regulatory, and health information systems). A summary of the meeting was included under TAB #7 in the binder prepared for Advisory Committee members.

Dr. Boyle summarized the feedback from participants at the April 18^th meeting on long-term followup and treatment in newborn screening as follows:

• Goal of long-term followup. The overall goal should be to achieve the best possible outcomes for children and families over the long term. Long-term followup is a process that should continue throughout a person’s lifespan (focus to age 18 or 21), with an emphasis on transitions such as the transition from pediatric health care to adult health care.
  
  
• Components of long-term followup. The core components of long-term followup after newborn screening are the following:
  
  
  • Clinical care/treatment. There should be more emphasis on collating and distributing available best practices and existing evidence. Access and manpower issues figure prominently in this component.
    
    
  • Coordination of care/services. This component includes public health components and clinical components. The “medical home” might be the point of coordination, but coordination may require disease-specific efforts. Families need a single “point of contact” for coordination of care/services.
    
    
  • Evaluation and surveillance. Evaluation and surveillance are extremely important but underdeveloped public health functions. Long-term tracking of natural history/treatment history is essential.
    
    
  • Platform for research. Care improvement is an integral part of long-term followup and the infrastructure for clinical research should be built into the system. Translation of research findings into clinical practice is critical.
    
    
• Models for providing long-term followup. Most participants at the April 18^th workshop thought that the medical home should be the point of coordination of care and services for individuals with conditions detected via newborn screening. Yet some thought that much of the care coordination should be disease specific. A possible model for long-term care following the detection of a condition via newborn screening might be a hybrid model combining (a) the chronic care model of a medical home for children with common diseases/disorders (e.g., asthma or attention deficit hyperactivity disorder); and (b) disease-specific models (e.g., Children’s Oncology Network).
  
  Family issues/individual issues. Family issues and issues related to individuals with a genetic or metabolic condition detected via newborn screening (developmental, medical, educational, emotional/social issues) should be addressed comprehensively. Families should be empowered in the long-term followup system. Providers should be trained on how to partner with families.
  
  
• Information technology/personal health record. An interoperable electronic personal health record or some type of electronic information exchange will be very important in development of the long-term care system.

The second part of the day at the April 18^th workshop was devoted to a session facilitated by Dr. Alan Hinman on roles and responsibilities in long-term followup in newborn screening. Dr. Boyle explained that that topic will not be a part of the position paper but will probably be among the next steps that the subcommittee will consider.

B. Draft Position Paper on Long-Term Followup in Newborn Screening

Alex Kemper, M.D., M.P.H., M.S.
Associate Professor
Department of Pediatrics
Duke Children’s Hospital and Health Center
Duke University

The draft position paper that was considered at the April 18, 2007, workshop on long-term followup after newborn screening was prepared by Dr. Alex Kemper, Dr. Stephen Downs, and Dr. James Figge. In his presentation, Dr. Kemper reported on some of the thoughts that he and his colleagues have had about the definition of long-term followup, gave examples of long-term followup programs, talked about high-level conceptual models, and identified next steps.

The overarching goal of long-term followup is to achieve the best possible outcome for children and their families. Components of long term followup include chronic disease management and provision of treatment; age appropriate preventive care and health promotion; activities to expand the evidence base related to the condition and treatments for the condition; quality improvement. Long-term followup should extend throughout an individual’s lifespan from the time of diagnosis.

There are various models for the provision of long-term followup to individuals with conditions detected via newborn screening. One model for long-term followup of children with special health needs is the medical home. An illustration of the Medical Home from Raleigh Children’s Hospital is one of the best and includes coordinating and providing health care, preventive care, continuity of care, and single point of care. It is important to recognize that Medical Home is not a physical location or any specific type of provider, and the location of a person’s medical home can change over time (e.g., during the transition to adult care).

One of the drawbacks of the medical home model for long-term care in newborn screening is that many individuals with special health needs do not have a medical home. Furthermore, the model of the medical home lacks specificity for the heterogeneous conditions (e.g., MCAD, sickle cell disease) detected via newborn screening. The model also does not provide any clear spot for public health.

Disease-specific models for long-term followup of children with special health needs include the Children’s Oncology Group (which provides recommendations on how to monitor for the late effects of cancer treatment and does some surveillance of survivors, but does not specify how followup care should be coordinated); the 11 Comprehensive Sickle Cell Centers funded by the National Heart, Lung, and Blood Institute (which help coordinate the care of those children who receive care through the clinics and conduct basic and translational research); and the clinics accredited by the Cystic Fibrosis Foundation (which provide comprehensive care and are involved in quality improvement and research).

The Followup & Treatment Subcommittee has been trying to develop a high-level conceptual model to improve child and family outcomes following newborn screening. The four primary types of things that affect these outcomes are (1) elements related to the specific condition; (2) elements related to the affected individual; (3) the health care system; and (4) the environment. Next steps include developing a “staged” vision for the future, with explicit and achievable practice goals, perhaps as logic model; and defining the relationship between public health, care providers, and researchers.

Questions & Comments

Dr. Skeels asked how one decides which individuals to follow in long term followup given that there is significant biological variation and a spectrum of affectedness for specific conditions. Dr. Boyle replied that that question was discussed at the April 18^th meeting as an issue that needs to be addressed.

Period of Followup. Dr. Kahn asked whether thought had been given to extending the vision of long term followup into adulthood. Ms. Monaco asked whether the Followup & Treatment Subcommittee had considered looking at current adults living with the disorders (e.g., under what conditions and circumstances did they reach adulthood, success stories) to benefit the research that is being done on children and for long term followup.

Dr. Kemper stated that the goal should be to ensure appropriate long-term followup for all ages, but he focused on ages 18 to 21 for the position paper because of the magnitude and importance of transitions such as the transition from pediatric health care to adult health. Dr. Telfair stated that he believed that issues related to the transition to adult care were part of the Advisory Committee’s purview. Dr. Howell, noting that the Advisory Committee’s legal charter is to focus on heritable disorders and genetic diseases in “newborns and children,” emphasized that the adult age group is not within the Committee’s purview.

Dr. Boyle reported that the Followup & Treatment Subcommittee had heard from all perspectives that the lifespan approach is very important and that there are critical points of transition that must be highlighted. Although the subcommittee has not yet developed a specific agenda in terms of looking at adults, Dr. Boyle said she believes that once a followup program is created, much could be learned from surveillance data, observational data.

Medical Home. Dr. Skeels and other Committee members suggested that the medical home as the point of providing comprehensive primary care and coordination of services is a great concept but is still “a work in progress”—i.e., not the reality for many families. Dr. Kahn noted that the term medical home has been around since the American Academy of Pediatrics (AAP) created it in 1968 but stated that the concept is really just beginning to catch on. Dr. Kahn volunteered to share with the Advisory Committee a set of principles that several primary care organizations—the AAP, the American College of Physicians, the American Academy of Family Physicians, and the American Osteopathic Association—had recently adopted a set of principles on what constitutes a medical home. Dr. Howell said this would be helpful.

Speaking from the audience, Dr. Bonnie Strickland, who has responsibility for medical home in HRSA’s Maternal and Child Health Bureau, said surveys show that more than half of families of children with special health care needs and all children say they do have a medical home. She believes the medical home is an interesting concept for long-term followup of children with conditions detected via newborn screening, because it is grounded in primary care with comanagement with subspecialties and promotes well-child care. She emphasized the importance of thinking of children first, not their diseases. Dr. Telfair observed that Dr. Richard Antonelli has done a considerable amount of work on the medical home.

Ms. Engleson discussed newborn screening research activities at NIH, as well as the potential development by NIH of a Newborn Screening Translational Research Network.  As background, Ms. Engelson explained that several NIH institutes are interested in newborn screening. 

The lead NIH institute for newborn screening is the National Institute of Child Health and Human Development­­­­­­ (NICHD). NICHD’s current research priorities related to newborn screening are (1) the development of translational research infrastructure programs; (2) the development of screening technology; (3) improved therapies; (4) studies of the natural history and long-term outcomes of treatment; (5) behavioral and social sciences research; and (6) creation of appropriate public policies.

NIH institutes apart from NICHD that are interested in specific conditions or topics related to newborn screening are the following: 

• National Institute of Neurological Disorders and Stroke (NINDS)—developmental neurological disorders
  
  
• National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)—metabolic conditions
  
  
• National Institute of Biomedical Imaging and Bioengineering (NIBIB)—point of care technologies
  
  
• National Human Genome Research Institute (NHGRI)—ethical, legal, and social issues (ELSI), genomics, linkages to conditions
  
  
• National Heart, Lung, and Blood Institute (NHLBI)—hemoglobinopathies and cardiomyopathies
  
  
• National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)—neuromuscular conditions
  
  
• National Institute on Deafness and Other Communication Disorders (NIDCD)—hearing impairment
  
  
• National Institute of Environmental Health Sciences (NIEHS)—environmental factors associated with congenital defects
  
  
• National Library of Medicine (NLM)—newborn screening resource pages. including the Genetics Home Reference
  
  
• John E. Fogarty International Center (FIC)—genetics and informatics training, international research efforts
  
  
• Office of Rare Diseases (ORD)—rare diseases

NIH Research Grants and Contracts Related to Newborn Screening. One current NIH funding opportunity is a grant program cosponsored by NICHD, NIDDK, and NIDCD to develop therapeutic interventions (new, improved, or supplemental) for screenable conditions:  “Innovative Therapies and Clinical Studies for Screenable Disorders.”   Three different types of grants are available: R01 (the standard NIH grant) and R21s and R03s (more exploratory grants). Several grants have already been awarded, among them grants researching therapeutic interventions for galactosemia, spinal muscular atrophy, hearing loss due to cytomegalovirus, and globoid-cell leukodystrophy. Application deadlines occur three times each year until 2009. Additional information about this program is available at www.grants.gov.

NIH also has contracts for novel technologies. In September 2006 NICHD awarded two 3-year contracts to support the development of novel technologies in newborn screening. One contract was awarded to Ron Scott at the University of Washington to consider the expansion of tandem mass spectrometry (MS/MS) to lysosomal storage disorders. The other contract was awarded to Ken Pass in New York State to research Luminex bead array technology. The expectation is that both of these technologies will eventually expand to other conditions beyond those currently being screened for.

Newborn Screening Translational Research Network. A potential NIH initiative is a Newborn Screening Translational Research Network. The hope is that the NIH Newborn Screening Translational Research Network would have a network coordinating center that could pull together the grants and the contracts, investigator-initiated grants, clinical research centers and State labs and diagnostic labs, as well as current registries and other databases and repositories. This coordinating center could also link in with the HRSA-funded Regional Genetics and Newborn Screening Collaboratives.

A Newborn Screening Translational Research Network could validate new treatments and technologies, as well as provide increased access to dried blood spots and other samples for researchers. The network also could be used to look at longitudinal health outcomes on individuals identified through newborn screening. Such a network would require an informatics system to link researchers with potential human subjects for clinical trials in the network. It would also require informed consent and recommended research policies. 

InfoRx. NLM is taking the lead on a project called InfoRx. InfoRx pads are prescription pads to help health care providers refer patients to the up-to-date, consumer friendly Web page: the Genetics Home Reference Page (http://glr/nlm.nih.gov). A health care provider can just write the name of the condition down on this prescription pad and give it to the family to go to the Website and get more information that is authoritative and consumer-friendly. There has been direct outreach by American Academy of Pediatrics (AAP), the American College of Medical Genetics (ACMG), American College of Obstetricians and Gynecologists (ACOG), as well as the American Academy of Family Physicians (AAFP), and InfoRx pads can be ordered free at http://www.informationrx.org.

How the Advisory Committee Can Help. Ms. Engelson said that NIH welcomes the Advisory Committee’s guidance on what the research needs are in newborn screening, as well as its advice regarding the development of the Newborn Screening Translational Research Network (e.g., what the infrastructure might look like, what the components might be, linkage to public health programs, policy and legislative issues, ELSI issues).