Summary of Seventh Meeting
Feb. 13-14, 2006
Washington, DC

Printer-friendly Summary of Seventh Meeting

The Secretary’s Advisory Committee on Heritable Disorders and Genetic Diseases in Newborns and Children was convened for its seventh meeting at 9:00 a.m. on Monday, Feb. 13, 2006, in the Horizon Ballroom at the Ronald Reagan Building and International Trade Center in Washington, D.C. The meeting was adjourned at 2:05 p.m. on Tuesday, Feb. 14, 2006. In accordance with the provisions of Public Law 92-463, the meeting was open for public comments from 1 p.m. to2:00 p.m. on Tuesday, Feb. 14, 2006.

Committee Members Present:  

R. Rodney Howell, M.D.
Chair, Secretary’s Advisory Committee on Heritable Disorders and Genetic Diseases in Newborns and Children
Professor
Department of Pediatrics (D820)
Leonard M. Miller School of Medicine
University of Miami
P.O. Box 016820
Miami, FL  33101

Duane Alexander, M.D. ¨
National Institutes of Health
Director
National Institute of Child Health and Human Development
31 Center Drive, Room 2A03
Mail Stop Code 2425
Bethesda, MD  20892-2425

William J. Becker, D.O., M.P.H.
Ohio Department of Public Health
Medical Director
Bureau of Public Health Laboratories
1571 Perry Street, P.O. Box 2568
Columbus, OH  43201

Coleen Boyle, Ph.D., M.S. ¨
Centers for Disease Control and Prevention
Director
Division of Birth Defects and Developmental Disabilities
Division of National Center on Birth Defects and Developmental Disabilities
1600 Clifton Road, Mail Stop E86
Atlanta, GA  30333

Amy Brower, Ph.D.
Medical Informatics and Genetics
Executive Director
Medical Informatics and Genetics
Third Wave Molecular Diagnostics
315 South Fork Place

James W. Collins, Jr., M.D., M.P.H. §
Chairman, Secretary’s Advisory Committee on Infant Mortality
Associate Professor of Pediatrics
Department of Pediatrics
Division of Neonatology
Children’s Memorial Hospital
Chicago, IL  60614

Denise Dougherty, Ph.D. ¨
Agency for Healthcare Research and Quality
Senior Advisor, Child Health
540 Gaither Road
Rockville, MD  20850

Nancy S. Green, M.D. ^ª
March of Dimes Birth Defects Foundation
Medical Director
1275 Mamaroneck Avenue
White Plans, NY  10605

Anthony R. Gregg, M.D. ^ª
American College of Obstetricians and Gynecologists
Director, Maternal Fetal Medicine
Medical Director of Genetics
Department of Obstetrics and Gynecology
University of South Carolina School of Medicine
Two Medical Park, Suite 208
Columbia, SC  29203

Ethan Hausman, M.D. ^ª
Department of Health and Human Services
Food and Drug Administration
Center for Drug Evaluation and Research
Office of New Drugs
Office of Drug Evaluation 3/DGP
White Oak 22, Room 5105, HFD-180
10903 New Hampshire Avenue
Silver Spring, MD  20993-0002

Gregory A. Hawkins, Ph.D.
Wake Forest University School of Medicine
Assistant Professor
Section on Pulmonary, Critical Care, Allergy, and Immunologic Diseases
Department of Internal Medicine
Center for Human Genomics
Medical Center Boulevard
Winston-Salem, NC  27157-1054

Norman B. Kahn, Jr., M.D. ^ª
American Academy of Family Physicians
Vice President, Science and Education
11400 Tomahawk Creek Parkway
Leawood, KS  66211-6272

Christopher Kus, M.D., M.P.H. ^ª
Association of State and Territorial Health Officials
Pediatric Director
Division of Family Health
New York State Department of Health
Empire State Plaza
Room 890 Corning Tower Building
Albany, NY  12237

Bennett Lavenstein, M.D. ^ª
Child Neurology Society
Neurology Department
Children’s National Medical Center
111 Michigan Avenue
Washington, DC  20010

Piero Rinaldo, M.D., Ph.D.
Mayo Clinic College of Medicine
Professor of Laboratory Medicine and Pathology
& Chair, Division of Laboratory Genetics
Mayo Clinic Rochester
200 First Street, S.W.
Rochester, MN  55905

Derek Robertson, J.D., M.B.A.
Powers, Pyles, Sutter & Verville, PC
1875 Eye Street, N.W., 12^th Floor
Washington, DC  20006-5409

Joseph Telfair, Dr.P.H., M.S.W., M.P.H. §
Secretary's Advisory Committee on Genetics, Health, and Society
Department of Maternal and Child Health
School of Public Health
University of Alabama at Birmingham
320 Ryals Building
1665 University Boulevard, Room 320
Birmingham, AL  35294-0022

Peter C. van Dyck, M.D., M.P.H., M.S. ¨
Health Resources and Services Administration
Associate Administrator
Maternal and Child Health Bureau
U.S. Department of Health and Human Services
Parklawn Building
5600 Fishers Lane, Room 18-05
Rockville, MD  20857

Staff of the Secretary’s Advisory Committee on Heritable Disorders and Genetic Diseases in Newborns and Children Present:

Executive Secretary
Michele A. Lloyd-Puryear, M.D., Ph.D.
Health Resources and Services Administration
Chief
Genetic Services Branch
Maternal and Child Health Bureau
U.S. Department of Health and Human Services
Parklawn Building
5600 Fishers Lane, Room 18A-19
Rockville, MD 20857

CONTENTS

I. WELCOME, OPENING REMARKS, APPROVAL OF MINUTES

II. COMMITTEE BUSINESS—SUBCOMMITTEE REPORTS

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

III. THE NATIONAL COORDINATING CENTER (NCC) FOR HRSA-FUNDED REGIONAL GENETICS AND NEWBORN SCREENING COLLABORATIVES

IV. REPORTS ON ACTIVITIES FROM THREE REGIONAL GENETICS AND NEWBORN SCREENING COLLABORATIVES

1. Epidemiology: Mapping Genetic Needs Relative to Services for Cystic Fibrosis, Hemoglobinopathies, and Metabolic Disorders
2. Performance Metrics and Harmonization of Cutoff Values for Newborn Screening by Tandem Mass Spectrometry
3. Preparing for Disasters: Genetic/Metabolic Health Care Delivery During and After Hurricanes Katrina and Rita

V. NIH OFFICE OF RARE DISEASES—RARE DISEASE CENTERS OF EXCELLENCE

VI. NOMINATION PROCESS FOR CANDIDATE CONDITIONS ON THE UNIFORM NEWBORN SCREENING PANEL

1. Framework for the Overall Nomination Process—Criteria Workgroup Report
2. A Trial Run of Conditions Using the Proposed Nomination Process

VII. COMMITTEE BUSINESS—SUBCOMMITTEE REPORTS

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

VIII. LYSOSOMAL STORAGE DISEASES WORKSHOP 

IX. ORGANIZATIONS REPRESENTING STATE POLICYMAKERS AND LEGISLATORS

1. Newborn Screening: The Role of State Legislatures—National Conference of State Legislatures
2. State Health Policymakers Perspectives on Newborn Screening—Association of State and Territorial Health Officials

X. PUBLIC COMMENT SESSION

XI. COMMITTEE BUSINESS

APPENDIX A:  WRITTEN PUBLIC COMMENTS

I. WELCOME, OPENING REMARKS, APPROVAL OF MINUTES

Rodney Howell, M.D.
Chair, Secretary’s Advisory Committee on Heritable Disorders and Genetic Diseases in Newborns and Children
Professor, Department of Pediatrics
Leonard M. Miller School of Medicine
University of Miami

Dr. Howell welcomed participants to the seventh meeting of the Secretary’s Advisory Committee on Heritable Disorders and Genetic Diseases in Newborns and Children and announced two new members to the Committee:  James A Newton, M.D., President, Alabama Neonatal Medical Group; and Mary Jane Owen, M.S.W., Director, Catholics in Action, in Washington, D.C. Dr. Howell then noted that the following individuals had been newly named as organization representatives to the Committee: (1) Christopher A. Kus, M.D., M.P.H., representing the Association of State and Territorial Health Officials (ASTHO); (2) Ethan Hausman, M.D., FAAP, FCAP, representing the U.S. Food and Drug Administration (FDA); (3) Bennett Lavenstein, M.D., representing the Child Neurology Society; and (4) Lt. Col. David S. Louder, III, M.D., representing the U.S. Department of Defense.

Following these introductions, Dr. Howell outlined the agenda for the 2-day meeting:

• Presentation on the National Coordinating Center (NCC) for HRSA-Funded Regional Genetics and Newborn Screening Collaboratives. The executive director of the American College of Medical Genetics (ACMG) Michael Watson, Ph.D., who is the project director for the NCC, would give an overview of the NCC and regional collaboratives funded by the Health Resources and Services Administration (HRSA).
• Reports from three Regional Genetic and Newborn Screening Collaboratives. Reports on the activities of three of the seven HRSA-funded regional collaboratives would follow: Region 1: New England Regional Genetics Group (by Ann Marie Comeau, Ph.D.); Region 3: Southeastern Regional Genetics Group (by Jess Thoene, M.D.); and Region 4: The Great Lakes Genetics Collaborative (by Dr. Rinaldo).
• Presentation on Rare Disease Centers of Excellence. Stephen Groft, Pharm.D., who directs the Office of Rare Diseases (ORD) at the National Institutes of Health (NIH) would report on Rare Disease Centers of Excellence. Dr. Howell said he hoped ORD and the HRSA-funded regional collaboratives would take advantage of opportunities to collaborate.
• Subcommittee meetings and reports. A considerable amount of time would be devoted to meetings and reports of the Committee’s three subcommittees: the Education & Training Subcommittee, the Followup & Treatment Subcommittee, and the Laboratory Standards & Procedures Subcommittee. Following brief updates on the subcommittees’ work, there would be subcommittee meetings open to the public; then there would be additional reports to the full Committee. Dr. Howell said that he wanted the subcommittees to focus on what is achievable. In addition, he would like the subcommittees to focus on advancing the Committee’s recommendations to the Secretary of Health and Human Services with respect to advancing the adoption of the uniform newborn screening panel recommended in the ACMG report Newborn Screening: Toward a Uniform Screening Panel and System.
• Nomination process for candidate conditions to the uniform screening panel. Dr. Green and Dr. Rinaldo would outline a proposed process for the nomination of new conditions to be added to the uniform newborn screening panel recommended in the ACMG report.
• Presentation on the Lysosomal Storage Diseases Workshop. There would be a brief presentation on a December 2005 workshop on issues related to presymptomatic diagnosis of lysosomal storage diseases.
• Presentations from organizations representing state policymakers and legislators. The National Conference of State Legislatures (NCSL) and the Association of State and Territorial Health Officials (ASTHO) would make presentations about their activities.
• Public comments. Members of the public would be given an opportunity to make statements to the Committee during a public comment session on Friday, Oct. 21, 2005.

The minutes from the sixth meeting of the Advisory Committee on Heritable Disorders and Genetic Diseases in Newborns and Children held Oct. 20–21, 2005, were unanimously approved.

II. COMMITTEE BUSINESS—SUBCOMMITTEE REPORTS

The chairs of the Laboratory Standards & Procedures Subcommittee, the Education & Training Subcommittee, and the Followup & Treatment Subcommittee updated the full Committee on their activities and plans since the previous meeting.

A. Laboratory Standards & Procedures Subcommittee Report

Amy Brower, Ph.D.
Executive Director
Third Wave Molecular Diagnostics
Medical Informatics and Genetics

Dr. Brower, the chair of the Laboratory Standards & Procedures Subcommittee, said that to advance work related to the subcommittee’s charge to better understand and define the steps that would be helpful in harmonizing lab procedures in support of the uniform newborn screening panel recommended in the ACMG’s expert panel’s report Newborn Screening: Toward a Uniform Screening Panel and System, the subcommittee formed a working group related to the need for a routine second newborn screening test. The working group met several times over the last few months and came up with the idea of a targeted data mining effort to identify the parameters that might be useful in a larger study to address the question of the need for a routine second specimen in newborn screening. The workgroup will communicate the outcome of the data mining effort to the subcommittee, which will then seek feedback and advice from the full Advisory Committee about the possibility of a larger study.

B. Education & Training Subcommittee Report

William J. Becker, D.O., M.P.H.
Medical Director
Bureau of Public Health Laboratories
Ohio Department of Public Health

Dr. Becker reported that members of the Education & Training Subcommittee had held three conference calls in recent months (December, January, and February) to focus on the charges that Dr. Howell gave the subcommittee: (1) to review existing educational and training resources for health professionals; parents; screening program staff; hospital/birthing facility staff; and the public; and (2) to identify deficiencies and make recommendations for action regarding the five groups.

In addition, the Education & Training Subcommittee had added four new members and provided orientation sessions to them. It distributed the Parent Education Newborn Screening Toolkit to members for review. At Dr. Becker’s request, subcommittee members reviewed the American Academy of Family Practice’s (AAFP) Annual Clinical Focus on newborn screening (www.aafp.org). And the subcommittee has been collaborating with its Federal partners— the National Institute of Child Health and Human Development (NICHD), HRSA, the Human Genome Research Institute, the Agency for Healthcare Research and Quality (AHRQ), the Centers for Disease Control and Prevention (CDC), the National Institutes of Health/Office of Rare Diseases (ORD), and the National Library of Medicine (NLM)—on how to educate stakeholders about newborn screening. A one-stop Web site on newborn screening is under consideration.

In response to Dr. Howell’s charge, the Education & Training Subcommittee would like to propose the following goals for the subcommittee:

1. Increase awareness of newborn screening with the general public. (The Education & Training Subcommittee intends to develop a plan for this for the full Committee to consider at the June 2006 meeting.)
2. Increase knowledge of newborn screening among heath care providers. (Associations such as the American Academy of Family Physicians [AAFP], the American College of Obstetricians and Gynecologists [ACOG], and the American Academy of Pediatrics [AAP] are doing good work with their members; the Education & Training Subcommittee would like to begin to focus more on nurses, nurse midwives, and genetic counselor groups.) 
3. Increase awareness of newborn screening issues by policymakers (especially, state legislatures, but also state health departments, and newborn screening programs).
4. Increase resources available to families affected by a positive screen. (This will be a longer term goal of the subcommittee.)

In conclusion, Dr. Becker proposed the following action items for full Committee’s consideration:

• Discuss/approve the proposed goals for the Education & Training Subcommittee.
• Consider the concept of a national spokesperson for newborn screening.
• Request that the National Newborn Screening and Genetics Resource Center (NNSGRC) maintain updated U.S. maps showing state newborn screening programs (like the ones Dr. Brad Therrell has given the Committee) on its Web site.

Questions & Comments

Dr. Telfair asked how the Education & Training Subcommittee came up with the initial list of groups to target for education and training. Dr. Becker said the subcommittee brainstormed to get a fairly long list of groups and then selected the groups it thought would be most useful, given the resources and composition of the subcommittee. Dr. Telfair recommended that the subcommittee focus on people who deal hands-on with the potential population, including nurse practitioners, certified midwives, pediatric physician assistants, genetic counselors, people who do single gene counseling, etc.

Dr. Howell asked what mechanism the subcommittee would use to contact the groups. Dr. Becker said the subcommittee has various contacts (e.g., newborn screening perinatal coordinator on the subcommittee, a contact for the nurse midwives) and will put a plan together.

Dr. Howell also asked about the one-stop Web site. Dr. Becker explained that that idea came from a consortium of Federal agencies that are developing information about their activities in newborn screening education and that Dr. Jim Hanson and Ms. Gilian Engelson at the National Institute of Child Health and Human Development could elaborate.

Dr. Kus asked how the Education & Training Subcommittee’s work would differ from that of other organizations with similar goals. Dr. Becker explained that the subcommittee would bring recommendations to the full Advisory Committee; and the Committee would then make recommendations to HHS Secretary Leavitt. He noted that the Education & Training Subcommittee is charged with creating recommendations that advise the Committee on how to implement the uniform panel.

Dr. Howell said he thought the idea of a national spokesperson for newborn screening was a good idea and asked Dr. van Dyck whether a Committee could have a spokesperson. Dr. van Dyck said he did not know of any other Federal advisory committee that had a spokesperson. Any proposal for a spokesperson would have to be presented as a recommendation to the HHS Secretary.

C. Followup & Treatment Subcommittee Report

Treatment Subcommittee for the chair Dr. Boyle, who was delayed by weather conditions. She explained that Followup & > has developed some broad recommendations for next steps to get closer to an understanding of what needs to happen in financing, information technology, and reducing fragmentation of the system overall to improve followup of children who undergo newborn screening.

The Followup & Treatment Subcommittee’s first recommendation is to develop some way to arrive at a consensus about the meaning of long-term followup and treatment. Members of the Followup & Treatment Subcommittee discussed the definition of long-term followup and treatment, but they had differences of opinion and also thought that it was beyond the charge of the subcommittee to determine what the components, length of time, and roles and responsibilities of AAFP, AAP, state health departments, insurers, private sector providers, etc., are in long-term followup. If a consensus about the meaning of long-term followup and treatment is reached, the subcommittee can use that definition as a basis for its efforts to ensure that the financing and other components for long-term followup and treatment are in place.

Questions & Comments

Dr. Howell asked Committee members to comment on what they thought long-term followup means in the context of newborn screening. Dr. Kus said he strongly agreed that there is a need to further define long-term screening and followup and added that the definitions would probably have to be disease specific. He recommended that the effort to define these terms build on existing documents such as the ACMG newborn screening report and a draft document by the Clinical and Laboratory Standards Institute.

Dr. Dougherty explained that the lack of agreement extends not only to what the components of long-term care are but also to what the roles and responsibilities of various parties in ensuring long term-followup should be. Dr. Rinaldo said his impression of what long-term followup is almost intuitive—lifetime care of a patient with a chronic condition. He thinks the debate is really about where the financial resources for long-term followup are to come from—e.g., should the public health structure be responsible for years and years for people with metabolic disorders? 

Dr. Telfair stressed that it would be important to include families—the recipients of and participants in long-term care and followup—in any decisionmaking process.

Dr. Gregg recommended defining what the metrics are: both passive metrics (simply identifying people and tracking them) and active metrics (e.g., things that involve therapeutic interventions) before making any decisions about who is responsible for long-term followup.

Dr. Lavenstein said documents setting forth standards of care for different conditions are needed in order to ascertain what the burden of demand is going to be. Dr. Howell noted that developing standards of care is a big job but said that ideally this should be done for all the conditions in the newborn screening panel.

Dr. Lavenstein added that a second topic he would like to see considered is whether the mandate for followup is at the state level, the regional level, or national level. He said some in pediatrics are worried about this. Dr. Rinaldo said he would like to have a discussion of when the public health sector’s responsibility for newborn screening is finished. Expecting the public health sector to do lifetime care seems overly ambitious. At some point, the responsibility for care should pass to the health care system.

Dr. Kus said the responsibility has to be a shared, integrated responsibility. Right now the state health department can report what percentage of children were screened and what percentage were referred for services, but there is little information about what happens to those children. Collecting such information is especially important because we are now dealing with conditions whose natural history we do not know. What are the inherited metabolic disease centers doing?   Dr. Rinaldo says the problem is dealing with outcomes where the denominator is 1 or 2; the only feasible solution is to coordinate the gathering of data as in the Regional Genetics and Newborn Screening Collaboratives.

Dr. Howell asked Committee members to make recommendations about how to move forward. Dr. Becker made two suggestions to the Followup & Treatment Subcommittee:  (1) Make a recommendation to the full Committee about what type of consensus process might be useful; (2) pick one element of the issues—components of long-term followup, the responsibilities of who does long-term followup, the financing of long-term followup—and try to work though just that one element, recognizing that there are other factors that are going to be involved. Dr. Dougherty replied that the Followup & Treatment Subcommittee might address the first suggestion at its meeting later that afternoon; the consensus development process might be charged with coming up with what long-term followup and treatment components would be in an ideal world as a short-term product, then go back and consider the realities (e.g., of financing, information technology, other resources). Dr. Howell said that it would good to think of what some of the research elements of a followup program would be, as well. Dr. Dougherty commented the best way to figure out the components of long-term followup and treatment would be to first agree upon the goals.

Finally, Dr. Dougherty asked what resources would be available from HRSA for a consensus development conference. Dr. van Dyck and Dr. Lloyd-Puryear explained that there would be very few resources other than people and that all the subcommittees’ proposals would have to be examined so that they could be prioritized. Dr. Dougherty said maybe in the subcommittee meeting, they would try to come up with the types of resources they would need. Dr. Howell concluded by noting that there would be enough to get a small group together to meet, especially if the people lived in the D.C. metropolitan area.

III. THE NATIONAL COORDINATING CENTER (NCC) FOR HRSA-FUNDED REGIONAL GENETIC AND NEWBORN SCREENING COLLABORATIVES

Michael S. Watson, Ph.D., FACMG
Executive Director
American College of Medical Genetics (ACMG)

ACMG, under a cooperative agreement with the Genetic Services Branch, Maternal and Child Health Bureau, Health Resources and Services Administration (HRSA), serves as the National Coordinating Center (NCC) for the seven Regional Genetic and Newborn Screening Collaboratives. In his presentation, the NCC Project Director Dr. Watson explained that the goals of the NCC and regional collaboratives are to do the following:

• Enhance access to genetic services
• Enhance and support the genetic and newborns screening capacity of states (e.g., by addressing the maldistribution of genetic resources, promoting the translation of genetic medicine into public health and health care services, and facilitating the availability of genetic services at local levels).

Although the NCC has been operating for about a year, Dr. Watson noted, it has not done much coordinating yet, because the regional collaboratives’ foci to date have primarily been on infrastructure development: 

• Region 1: New England Regional Genetics Group (NERGG). Region 1 encompasses Connecticut, Massachusetts, Maine, Rhode Island, Vermont, and New Hampshire. NERGG is working under the direction of Thomas Brewster, M.D., to (1) improve collaboration within their region among states and at local levels; (2) enhance and improve current newborn screening practice models; and (3) improve newborn screening educational opportunities within the region.
• Region 2: New York-Mid-Atlantic Consortium (NYMAC) for Genetic and Newborn Screening Services. Region 2 encompasses the District of Columbia, Maryland, Virginia, West Virginia, Pennsylvania, New York, and New Jersey. NYMAC, co-directed by Kenneth Pass, Ph.D., and Lou Bartoshesky, MD, is developing a regional coordinating plan to improve access to specialty care for children with heritable disorders. In addition, this collaborative is (1) developing local solutions to barriers to access specialty care for congenital abnormalities; (2) addressing the maldistribution of specialists; (3) working with  Region 1 New England, Region 3 Southeastern region, and Region 4 (Great Lakes area) to develop an emergency backup system for newborn screening; (4) standardizing newborn screening throughout the region; and (5) educating providers, payers, patients and families in the region about newborn screening; and (6) encouraging collaborative partnerships between primary care providers and specialists for affected children.
• Region 3: Southeastern Regional Genetics Group (SERGG). Region 3 encompasses Alabama, Mississippi, Georgia, Louisiana, North Carolina, Tennessee, Florida, South Carolina, Puerto Rico, and the Virgin Islands. SERGG, under the direction of David Ledbetter, Ph.D., and Jess Thoene, M.D., is working on a telecommunications project in the region that connects states' academic and public health representatives. It is also engaged in efforts related to continuing education for nutritionists.
• Region 4: The Great Lakes Genetics Collaborative. Region 4 includes Illinois, Indiana, Kentucky, Michigan, Minnesota, Ohio, and Wisconsin. This regional collaborative, headed by Cynthia Cameron, Ph.D., has three ongoing projects: (1) a newborn screening tandem mass spectrometry (MS/MS) project to achieve uniformity of the testing panel within the region and to improve the analytical performance within the region (headed by Dr. Rinaldo); (2) a project to reduce inequities in access to genetic services (headed by Dr. R. Pauli); and (3) a regional public health infrastructure project that is developing a practice model for optimal diagnosis, followup and management for the children that are identified with heritable disorders and birth defects (headed by C. Nash).
• Region 5: The Heartland Regional Genetics and Newborn Screening Collaborative. Region 5 includes Arkansas, Iowa, Kansas, Missouri, North Dakota, Nebraska, Oklahoma, and South Dakota. This regional collaborative, under the direction of John Mulvihill, M.D., is developing a regional infrastructure to address communication, education and resource needs of the region. In addition, the collaborative is developing what it calls a “Heartland Regional Genetics Strategic Plan.” It also has a special smaller regional project that is focusing on identifying gaps in service and education.
• Region 6: Mountain States Genetic Foundation. Region 6 includes Arizona, Colorado, Montana, New Mexico, Texas, Utah, and Wyoming.This regional collaborative, under the direction of John Johnson, MD is taking steps to establish the Mountain States Genetics Regional Center (MoStGeNe Regional Center) to facilitate coordination, communication and collaboration among the many stakeholders and partners across the region. In addition, it is updating and regionalizing a needs assessment and developing a regional plan for collaborative genetic activities.
• Region 7: Western States Genetic Services Collaborative.Region 7 encompasses Alaska, California, Hawaii, Idaho, Nevada, Oregon, Washington, and Guam. This regional collaborative, under the direction of Sylvia Au and Kerry Silvey, is moving to implement a regional practice model to improve access to specialty metabolic genetic services and primary care. For the states in the region that had not been a part of the initial planning process, the regional collaborative hopes to conduct a needs assessment to identify activities to increase the capacity for genetic and newborn screening services in those states.

The NCC’s advisory committee is chaired by Jonathan Zonana, M.D., and includes broad range of expertise. Representatives of organizations that include the National Society of Genetic Counselors, American Academy of Family Physicians, National Conference of State Legislatures, American Academy of Pediatrics, March of Dimes, Association of Maternal and Child Health Programs, the National Association of Pediatric Nurse Practitioners, National Institutes of Health (, Genetic Alliance, , Centers for Disease Control and Prevention (CDC), and Association of State and Territorial Health Officers are directly involved.

The NCC has the following objectives with respect to the seven Regional Genetics and Newborn Screening Collaboratives:  (1) to support the regional collaboratives’ efforts to identify issues specific to the utilization of genetic and newborn screening services at all levels; (2) to minimize duplication of efforts, identify  “best practices” developed by the regions, further information exchange and professional collaboration; (3) to facilitate the regional collaboratives’ focus on maternal and child health and program goals; and (4) to maximize interregional collaboration (e.g., by having language and terminology compatibility across the country; by involving representatives from genetic, public health, state, business, and academia).

• Communication and information management technologies (e.g., videoconferencing, telemedicine, including Web-based clinical management systems suitable for telemedicine, interstate satellites);
• Establishing provider (genetic service) networks;
• Disease management information;
• Reimbursement in general and when trying to work across state lines or over a long distance (e.g., reimbursement for telephone consultation);
• Evaluation methodologies; 
• Expansion of newborn screening and the service infrastructure needed to provide followup services to newborns that test positive;
• Specific regulation and legislation to allow interstate licensing to address liability concerns across state borders;
• Financing for the expansion of newborn screening and service infrastructure for followup services;
• Expanding access to genetic services (e.g., via training geneticists, training primary care providers in the field of genetic medicine; increasing the diversity of trainees; and a mechanism to more systematically address the geographic maldistribution of services); and
• Evaluation.

ACMG has plans for the NCC to do the following: (1) develop networks of centers of genetic services with primary care providers; (2) facilitate data collection, collaborating with the NIH rare disease centers and CDC’s genomics centers; and (3) work with organizations such as the American Academy of Pediatrics, and American Academy of Family Physicians to address the development of codes in the Current Procedural Terminology, as well as with organizations such as the Joint Commission on the Accreditation of Healthcare Organizations to bring some uniformity of practice within hospitals for newborn screening programs for taking samples for newborn screening; and (4) encourage information sharing from projects with overlapping interests; and (5) facilitate collaboration and dissemination of best practices.

The NCC’sresource partners, among them National Conference of State Legislatures (NCSL) and the American Academy of Pediatrics (AAP) have identified the following activities: 

• NCSL identifies and analyses regulatory issues as needed by program; communicates policy concerns to state legislatures and staff; and addresses areas in which state and Federal legislative and regulatory issues may hinder cooperative activity (e.g., privacy statutes and information sharing; public health data collection activities and joint research projects; political and economic conditions that limit moves to standardization and best practices).
• The AAP has developed several programs related to newborn screening. The National Center of Medical Home Initiatives for Children with Special Needs is a broad program that provides support to physicians, families, and other medical and nonmedical providers who care for children with special needs so that they have access to a medical home (i.e., primary care that is accessible, continuous, comprehensive, family centered, coordinated, compassionate, and culturally effective). With support from HRSA, the AAP also has established a practice-based research network known as Pediatric Research in Office Settings. In addition, the American Academy of Pediatric has done considerable work on developing practice guidelines related to genetic and newborn screening.

The NCC has initiated several projects.

1. Building the business case for genetic services. The NCC has formed a workgroup to use the regional collaboratives to develop the information needed to build the business case for genetic services, and the workgroup expects to hold its first meeting in May 2006.
2. Developing a defined network of genetic service providers.The NCC has begun considering standards for centers for genetic services; acknowledging qualified providers outside of centers; considering specialty genetic condition clinics and core genetic needs; including primary care providers identified with the AAP’s National Center of Medical Home Initiatives for Children with Special Health Care Needs. A workgroup is going to meet once and then complete its work by long-distance communication.
3. Newborn screening and clinical genetic management guidelines. The NCC is involved in the ongoing development of newborn screening and clinical genetic management guidelines for primary care providers and specialists:  
   1. ACTion (ACT) sheets for newborn screening conditions for primary care providers. Dr. Watson explained that NCC has been trying to develop guidelines that are appropriate for providers to use at the point of care. A HRSA-funded workgroup is preparing ACT sheets on specific newborn screening conditions for primary care providers. Each ACT sheet includes a paragraph condition description and information about differential diagnosis; tells a primary care provider what actions to take in the event of a positive screen; identifies national resources for additional information; and includes a space for the insertion of local, state, and regional resources for referral. These ACT sheets are amenable to being directly integrated into electronic medical records and health information systems. Confirmatory algorithms for the purpose of establishing a diagnosis in a screen-positive newborn are also being developed. Currently, the ACT sheets are undergoing pilot testing. The AAP has approached the NCC about integrating the ACT sheets into its national program of getting newborn screening educational materials into every pediatrician’s office in the United States.
   2. Management guidelines for adults with pediatric genetic diseases. These will be increasingly needed as states implement broader screening for more disorders and 10,000 people every year are moved into chronic disease management.
   3. Management guidelines for medical geneticists. These are the high-level guidelines that the ACMG pays attention to.
4. Identifying pilot studies for newborn screening. NCC will work with the National Newborn Screening and Genetics Resource Center to track and keep a list of pilot newborn screening programs in the states. They will facilitate links between researchers/providers and screening laboratories.
5. Improving screening laboratory performance.
6. Addressing the education needs of the public and providers (from primary care providers to specialists).

Questions & Comments

Dr. Becker asked whether ACT sheets that provide guidance to pediatric primary care health professionals about how to respond to a positive newborn screen for specific conditions are available online. Dr. Watson replied that six of the ACT sheets are in the final stages of approval and will be publicly available on ACMG’s Web site. In addition, the AAP is going to be distributing the ACT sheets to all pediatric practices in the United States. Finally, the sheets are going to be made available as a bound set. The intent is to make the ACT sheets as widely available as possible.

Dr. Becker suggested that the Committee might consider making the ACT sheets available to all state newborn screening programs. Dr. Watson replied that there had been recent discussions about the distribution network and the NCC is drafting letters to send to newborn screening program directors, followup coordinators, lab directors in newborn screening programs, maternal and child health directors in the states, and others about the availability of the ACT sheets. He added that about a dozen states have actively been chasing him.

Dr. Howell asked how the ACT sheets would be maintained and updated. Dr. Watson said that ACMG committees would revisit the ACT sheets periodically, at a minimum of every 3 years, to retire, reaffirm, or revise them. Dr. Hannon suggested the possibility of including a customer comment Web site for the ACT sheets.

Another question was whether ACT sheets would be developed for screen-positive patients who did not require referral to subspecialist. Dr. Watson said the focus of the ACT sheets will probably be on the more comprehensive guideline for the true positive patient. Resources will determine the extent to which they can do the intermediate stages.

Dr. Howell asked whether ACMG is planning on developing ACT sheets for each of the conditions in the newborn screening panel. Dr. Watson said that ACMG would love to do this, but there are 54 conditions, and the cost of doing practice guidelines is prohibitive (e.g., the Pompe’s disease guideline cost $62,000 for two meetings of 12-15 people)  Dr. Kus asked what Dr. Watson’s preferred method of developing clinical guidelines is: expert based, evidence based guidelines, consensus guidelines or what?  Dr. Watson said all of the above are useful; it depends on what the condition is and whether you are talking about the diagnosis, the test, the treatment, etc.

Dr. Howell asked where NCC is in its work with the Joint Commission on Accreditation of Healthcare Organizations (JCAHO), noting that many people think that hospitals should have a defined role in newborn screening, which they currently do not.Dr. Watson indicated that working with JCAHO is the NCC’s next priority and that effort is being ratcheted up. JCAHO has indicated that its newest standards revolve around the hospital’s responsibility in a scenario when a newborn screening test result, that requires action, comes back; JCAHO wants