Summary of 13th Meeting
January 14-15, 2008
Washington, DC

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The Secretary’s Advisory Committee on Heritable Disorders and Genetic Diseases in Newborns and Children was convened for its 13th meeting at 9:40 a.m. on Monday, Jan. 14, 2008, at the Marriot Bethesda North Hotel & Conference Center in Bethesda, Md. The meeting was adjourned at 1:58 p.m. on Tuesday, Jan. 15, 2008. In accordance with the provisions of Public Law 92-463, the meeting was open for public comments on Jan. 15, 2008.

CONTENTS
I. WELCOME, OPENING REMARKS 7
II. INTRODUCTION OF NEW MEMBERS 8
III. NEWBORN SCREENING SYSTEMS USING PARTNERSHIPS FOR NEWBORN SCREENING AND FOLLOWUP 9
A. The Region 4 Genetics Collaborative’s Inborn Errors of Metabolism Information System for Long-Term Followup After Newborn Screening 9
B. A Public-Private Partnership for Newborn Screening and Followup Services: Nebraska’s Newborn Screening Program and Pediatrix Screening 13
C. A Partnership Between the New England Newborn Screening Program at the University of Massachusetts Medical School and Two New England States for Newborn Screening and Followup 14
IV. LEGISLATIVE UPDATE 17
V. REPORT FROM THE PERSONALIZED HEALTHCARE WORKGROUP AND ITS SUBGROUP ON NEWBORN SCREENING 19
A. Background on the HHS Secretary’s PHC Workgroup 19
B. The PHC Workgroup’s Subgroup on Newborn Screening 20
VI. COMMITTEE BUSINESS—SUBCOMMITTEE REPORTS & DISCUSSION 21
A. Laboratory Standards & Procedures Subcommittee Report 22
B. Education & Training Subcommittee Report 25
C. Followup & Treatment Subcommittee Report 27
D. Research Workgroup Report 29
VII. THE SACGHS STUDY OF THE IMPACT OF GENE PATENTS AND LICENSING PRACTICES ON ACCESS TO GENETIC TESTS 30
VIII. UPDATE ON THE ADVISORY COMMITTEE’S PROCESS FOR EVALUATING NOMINATIONS OF CANDIDATE CONDITIONS FOR THE UNIFORM NEWBORN SCREENING PANEL 33
A. Report on the Evidence Review Workgroup’s Plans 34
B. Report from the Nomination Review & Prioritization Workgroup 37
IX. UPDATE ON HRSA’S PROCESS FOR ADMINISTRATIVE REVIEW OF NOMINATIONS OF CANDIDATE CONDITIONS FOR THE UNIFORM NEWBORN SCREENING PANEL 41
X. PUBLIC COMMENT SESSION 43
XI. COMMITTEE BUSINESS 45
APPENDIX A: WRITTEN PUBLIC COMMENTS 49

I. WELCOME, OPENING REMARKS
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
Agenda for the Meeting. Dr. Howell opened the meeting by welcoming Advisory Committee members and other participants and giving a brief overview of the agenda:
• Introduction of new Advisory Committee members. The five new Advisory Committee members, all of whom had received ethics briefings earlier in the morning, would be introduced.
• Reports from newborn screening programs/systems using partnerships for newborn screening and followup. There would be several presentations illustrating a variety of different approaches and supporting infrastructures used by newborn screening programs/system for screening and followup of newborns identified as having genetic or metabolic disorders.
• Federal legislative update. Emil Wigode, director of Federal affairs in the March of Dimes’ Office of Government Affairs, would update the Advisory Committee on Federal legislative developments of interest.
• Report from the Subgroup on Newborn Screening of the Personalized Healthcare Workgroup (PHC). Dr. Stephen Downs would report from the Subgroup on Newborn Screening that was established by the PHC Workgroup. As noted at a previous meeting, the PHC Workgroup makes recommendations to an advisory body called the American Health Information Community (AHIC) that makes recommendations to the Secretary of Health and Human Services (HHS) related to the development of interoperable electronic health information systems.
• Subcommittee meetings and reports. The Advisory Committee’s Laboratory Standards & Procedures Subcommittee, Education & Training Subcommittee, and Followup & Treatment Subcommittee would meet on Monday, Jan. 14, 2008, and give reports to the full Committee on Tuesday, Jan. 15, 2008. All of the subcommittee meetings would be open to the public.
• Report on the Secretary’s Advisory Committee on Genetics, Health, and Society’s (SACHGS) ongoing study of the impact of gene patents and licensing practices on access to genetic tests. Dr. James Evans would describe an ongoing study by the SACHGS Task Force on Gene Patents and Licensing Practices of the impact gene patents and licensing practices have on access to genetic tests in clinical practice and public health settings.
• Updates from the Advisory Committee’s external Evidence Review Workgroup and the Advisory Committee’s Nomination Review & Prioritization Workgroup (NRPW). Dr. James Perrin and Dr. Nancy Green would update Advisory Committee members on the status of the Evidence Review Workgroup headed by Dr. Perrin and deliberations by the newly established Nomination & Prioritization Workgroup headed by Dr. Green. Dr. Howell requested that Advisory Committee members review the two nomination forms forwarded to the Committee by the HRSA’s Maternal and Child Health Bureau for conditions to be added to the uniform newborn screening panel: one nomination for severe combined immunodeficiency (SCID) and one for Pompe disease.
• Report on HRSA’s process for administrative review of nomination forms. Dr. Marie Mann would talk about the process that HRSA’s Maternal and Child Health Bureau has established to review nomination packages submitted by proponents of adding conditions to the uniform newborn screening panel to ensure that they are complete.
• Public comment session. As usual, there would be an opportunity for members of the public to offer comments to the Advisory Committee.
• Committee business. The final agenda item for the day would be to wrap up any remaining Committee business. Committee members would be asked, among other things, to comment on current policies regarding the authorship of Committee and workgroup reports published in refereed journals. They would also be asked to make suggestions for the agenda for the Committee’s next meeting in May 2008.
Approval of Minutes. The minutes from the Nov. 14, 2007, meeting of the Advisory Committee on Heritable Disorders and Genetic Diseases in Newborns and Children by conference call [Tab #5 in the materials distributed to Advisory Committee members] were approved. The minutes from the Sept. 17-18, 2007, meeting of the Advisory Committee [also under Tab #5] were approved with the following changes:
• Page 24, first bullet: Change “Luminex B” to “Luminex bead.”
• Page 33, third bullet: Change “Dr. Dougherty disagreed, noting” to “Dr. Dougherty suggested.”
• Page 42, second line: Change “reported on the Genetic Alliance’s two other projects” to “reported on two other projects.”
II. INTRODUCTION OF NEW MEMBERS
Dr. Howell welcomed five new voting members to the Advisory Committee and reported that the Secretary of HHS had appointed him to a second 4-year term as the chair of the Advisory Committee on Heritable Disorders and Genetic Diseases in Newborns and Children. The five new Advisory Committee members are the following:
• Rebecca H. Buckley, M.D., J. Buren Sidbury Professor of Pediatrics at Duke University Medical Center, Duke, NC
• Bruce Nedrow (Ned) Calonge, M.D., M.P.H., Chief Medical Officer and State Epidemiologist, Colorado Department of Public Health and Environment, Denver, CO
• Kwaku Ohene-Frempong, M.D., Director, Comprehensive Sickle Cell Center, Children’s Hospital of Philadelphia, Philadelphia, PA
• Tracy L. Trotter, M.D., F.A.A.P., Senior Partner, Pediatric and Adolescent Medicine, San Ramon Valley Primary Care Medical Group in San Ramon, CA
• Gerard Vockley, M.D., Ph.D., University of Pittsburgh, Professor of Pediatrics, School of Medicine, Professor of Human Genetics, Graduate School of Public Health, Chief of Medical Genetics, Children's Hospital of Pittsburgh of University of Pittsburgh Medical Center, Pittsburgh, PA
Dr. Telfair announced that he plans to leave the Advisory Committee on Heritable Disorders and Genetic Diseases but not until a person who can replace him as the liaison from the Secretary's Advisory Committee on Genetics, Health, and Society (SACGHS) is found.
III. NEWBORN SCREENING SYSTEMS USING PARTNERSHIPS FOR NEWBORN SCREENING AND FOLLOWUP
In this session, several individuals gave presentations illustrating partnerships for newborn screening and followup of newborns identified as having genetic or metabolic disorders:
• Dr. Susan Berry discussed the Region 4 Genetics Collaborative’s Inborn Errors of Metabolism Information System (IBEM-IS) for long-term followup of affected newborns in Illinois, Indiana, Kentucky, Michigan, Minnesota, Ohio, and Wisconsin.
• Mr. William Slimak from Pediatrix Screening described the Nebraska Newborn Screening Program’s contractual arrangement with Pediatrix Screening for newborn screening and followup services.
• Dr. Roger Eaton reported on the partnership for newborn screening services and followup activities between the University of Massachusetts Medical School–New England Newborn Screening Program (NENSP) and two New England states for newborn screening and followup services. In addition, Dr. Anne Comeau, who previously made a presentation on an NENSP project to develop sustainable long-term followup initiatives, made some brief remarks about NENSP’s short-term followup activities after newborn screening.
• Dr. Michael Skeels, the director of the Oregon State Public Health Laboratory, described the contractual arrangements under which Oregon’s Northwest Regional Newborn Screening Program (NWRNSP) at the Oregon State Public Health Laboratory provides newborn screening and followup services to several sparsely populated states and other entities in the region.
A. The Region 4 Genetics Collaborative’s Inborn Errors of Metabolism Information System for Long-Term Followup After Newborn Screening

Susan A. Berry, M.D.
Professor and Director
Division of Genetics and Metabolism
Department of Pediatrics
University of Minnesota

Dr. Berry discussed the evolution and future plans for the Inborn Errors of Metabolism Information System (IBEM-IS) developed by the Region 4 Genetics Collaborative. The Region 4 Genetics Collaborative includes seven states that are seeking to share the use of available newborn screening and genetic resources: Illinois, Indiana, Kentucky, Michigan, Minnesota, Ohio, and Wisconsin. All seven states perform newborn screening using tandem mass spectrometry (MS/MS).

Newborn screening can be effective in improving outcomes and saving lives of affected children, Dr. Berry explained, only if the treatment provided once disorders are detected is effective. The problem is that there is no good evidence base for how inborn errors of metabolism should be treated. The challenges in developing evidence-based medicine to treat inborn errors of metabolism are well known.

Strategies for encouraging the development of evidence-based medicine pertaining to such disorders include collaboration among centers, with Federal and state support, and the publication of systematic reviews. There is substantial precedent for national collaboration in the treatment of other diseases (e.g., childhood cancer), and there is no reason that something similar cannot be done in the case of rare inborn errors of metabolism.

The Region 4 Genetics Collaborative has a partnership of metabolic clinicians and state health department newborn specialists who are committed to collaboration and have formed a team to create new ideas about how to improve long term followup of infants found to have inborn errors of metabolism detected via newborn screening. They have established Region 4’s Long-Term Followup and Clinical Outcomes Workgroup, whose charge is to develop and implement a rational action plan to address long-term followup after newborn screening and the evaluation of clinical outcomes. The workgroup’s priorities are (1) developing standardized diagnostic and medical management protocols for disorders diagnosed by newborn screening/care plans for specific diagnoses; and (2) evaluating clinical outcomes through identifying critical elements for followup.

The Web-based IBEM-IS developed by the Region 4 Genetics Collaborative’s Long-Term Followup and Clinical Outcomes Workgroup is the primary instrument by which these priorities will be achieved. The IBEM-IS includes the following data: (1) core data elements (e.g., initial or updated newborn screening results; confirmatory testing results, other); (2) disease specific data elements; (3) interval data elements collected at each center (labs, ER/hospital, prescriptions, developmental evaluations) with prompts built in; and (4) additional data elements (e.g., care coordination). So far the collaborators have defined the data elements for 19 disorders of the primary and secondary uniform newborn screening panel.

The development of the IBEM-IS began with the development by Region 4 of a Web-based registry and data system with demographic and disease-specific data elements for a single disorder—MCAD (medium chain Acyl-CoA dehydrogenase) deficiency. Recently, the database has been expanded to include other disorders such as maple syrup urine diseases (MSUD), organic acidemias, and long chain fatty acid oxidation disorders.

Rather than being built from scratch, the IBEM-IS was built using a commercial relational database platform called DocSite®, which allows people to connect health information from different sources (e.g., inpatient/ emergency rooms, public health, home, physicians’ offices) for care, tracking, etc. DocSite® is compliant with the Health Insurance Portability and Accountability Act, allows relative ease of entry at the point of service, has reporting functions, permits adding elements into and amending those elements for data management and monitoring, and makes it relatively easy to export data for analysis.

Institutional review board (IRB) approval is in place in the states of Minnesota, Illinois, Wisconsin, and Ohio, and the Region 4 collaborators are enrolling clinic subjects as they obtain their permission. Patients who enroll in the registry are asked to sign a prospective consent to allow continuing contact. Thus, there will be a cohort of patients with specific questions on whom data are being collected and who can be engaged in future research projects.

Since June 2007, the Region 4 collaborators have enrolled 89 subjects in the IBEM-IS: 31 with MCAD deficiency, 5 with MSUD, 17 with organic acidemias, 17 with long chain fatty acid oxidation disorders, and a handful of others. The investigators were surprised and happy to discover that about 85 percent of the data elements for MCAD deficiency and MSUD—and probably other disorders—are identical, because they pertain to the general health and well being of the child; only about 15 percent of the data elements in the IBEM-IS are disease specific.

The IBEM-IS will serve as the foundation for research regarding the long-term management of inborn errors of metabolism, help define the natural history of these conditions as prospectively treated diseases, and provide a platform from which to integrate other data that will be critical to the care of affected individuals. The next steps for Dr. Berry and her colleagues are to define their research agenda and strategy with the IBEM-IS. They also want to work toward integration of the data (e.g., to allow importing the data directly from the newborn screen into the database and vice versa, to allow departments of health to export the data for their long term followup mandates, to allow families or emergency room doctors to get access to the Web based emergency plans).

Questions & Comments

Advisory Committee members, including Dr. Boyle, Dr. Hinman, and others, expressed great enthusiasm for and interest in the Region 4 Genetics Collaborative’s IBEM-IS. Many of them also asked questions about the system.

Dr. Ohene-Frempong asked: When families consent to enroll, is the consent open ended and also with the understanding that they may become either eligible or at least approached about future research? Dr. Berry explained that one of the elements captured in the IBEM-IS itself is permission to contact. So if a person says yes, enroll me and keep my data but no, do not contact me, the data can be sorted for that. If a person does not want to continue participation, it is possible to stop gathering data on the person, but the data that have already been collected on the person will remain in the database. That is cited in the consent form. Another issue related to consent, Dr. Berry noted, is what to do when somebody who has been enrolled turns 18. Region 4 plans to re-consent children for the IBEM-IS when they become adults.

Dr. Boyle asked how the IBEM-IS captures all the medical events for a child. Dr. Berry said that at each visit, the family is asked: How many emergency room visits did you have? Were those related to your inborn error of metabolism? The IBEM-IS also counts the number of hospital days that affected children have in a given interval. Thus, the IBEM-IS uses surrogates to measure the impact of what happens in the lives of affected children.

Dr. Georgeanne Arnold, speaking from the audience, asked how Region 4 would keep the IBEM-IS updated. Dr. Berry replied that doing this is a challenge but extremely important. Right now, although the IBEM-IS is electronically based, they are asking people to fill out the visit planners and hold onto them so that if there are any problems with the data in the IBEM-IS, they can go back and capture it. This system is not perfect, but it is what they can do right now.

Dr. Calonge asked how Region 4 would fund maintenance of the IBEM-IS over time. Dr. Berry said the IBEM-IS is grant funded for 5 years; after that, the source of funding is unclear. She and her colleagues recognize that there may be other plans for what happens on a national scale, but they want to at least start standard mapping. They are trying to maximize the possibility that if there is a meta-database for the world, the data from the IBEM-IS database can be exported to it if need be.

Speaking from the audience, Dr. Nancy Green asked whether the IBEM-IS would accommodate data from prospective trials. Dr. Berry said the intent in setting up the IBEM-IS was to allow that. It would be possible to add data from a trial of a medication, for example, by adding a data element saying is this person on this trial and then add information. Dr. Green’s also asked whether there was some system for banking samples for people entered into the IBEM-IS. Dr. Berry stated that clinical samples are not being banked.

Several Committee members posed questions related to access to data in the IBEM-IS:

• Dr. Buckley asked who had access to all of the data in the IBEM-IS. Dr. Berry said that she and the epidemiologist are the only people with full access to all of the data. Dr. Buckley also asked how the consent form was handled. Dr. Berry explained that she wrote the consent form.

• Dr. Trotter asked whether primary care physicians had Web-based access to the emergency plan. Dr. Berry said yes, the primary care physician, the metabolic specialist, and the family all have access to the emergency plan.

• Dr. Boyle also asked how the IBEM-IS collaborated in public health functions. Dr. Berry said that in terms of access, the plan would be that because of the way the IBEM-IS is set up to allow the granting of permission to a user for access to certain sets of data, a department of health could be allowed access to all the data from their own state's activities for long term followup. In terms of a larger scale public health interest, obviously it's in our mutual interest to publish this information and share it. Dr. Berry added that if people have projects specific to this or information that we want to capture, it's not that hard to add or change the elements. So if there are better surrogates than just capturing days in the emergency room that should be added, that can be done.

• Ms. Terry also asked whether outside groups would be allowed to have access to the data collected via the IBEM-IS. Dr. Berry explained that Region 4 views the IBEM-IS as a public resource and will have a process by which groups like the Genetic Association Information Network can request access to deidentified data.

Dr. Hinman asked whether Region 4 had considered adding hemoglobinopathies or hearing disorders to the IBEM-IS. Dr. Berry said the beauty of the IBEM-IS is that you can add whatever disorders you want. Dr. Hinman also asked whether the IBEM-IS was being used to provide educational materials to primary care providers. Dr. Berry said no, but they could add this to the emergency plan, or add links to American College of Medical Genetics (ACMG) ACT sheets for professionals.

Dr. Kus asked for information about the tools being used for the expanded neurodevelopmental section of the IBEM-IS. Dr. Berry said that the Region 4 collaborators incorporated the results from several standard tools for a separate neuropsychiatric survey. Each disorder has an enrollment survey and an interval survey—and the neuropsychiatric survey is common to them all.

Ms. Terry expressed concern that Dr. Berry had implied that randomized clinical trials (RCTs) were the only type of evidence, despite the fact that other types of evidence are deemed acceptable in the case of rare diseases. Dr. Berry assured her that she had not meant to imply that RCTs were the only acceptable form of evidence. The IBEM-IS gathers data on the clinical history of what happens—and that in itself is evidence.

B. A Public-Private Partnership for Newborn Screening and Followup Services: Nebraska’s Newborn Screening Program and Pediatrix Screening

William S. Slimak
Vice President of Operations
Pediatrix Screening

Mr. Slimak described partnership between Nebraska’s newborn screening program and a commercial entity, Pediatrix Screening, under which Pediatrix Screening processes newborn screening specimens and helps drive systemic quality improvements in the state’s newborn screening system.

Hospital and other birthing centers in Nebraska obtain newborn screening specimens and then send them by United Parcel Service (UPS) to Pediatrix Screening in Pennsylvania. Pediatrix Screening then analyzes the specimens and provides the results. In addition, Pediatrix Screening collects and analyzes data on various metrics related to newborn screening for Nebraska’s newborn screening program. These include age of specimen at time of specimen collection, percentage of specimens found to be unsatisfactory and why, mean turnaround time from birth to specimen collection, average turnaround time from collection to receipt at the Pediatrix Screening lab in Pennsylvania, and average turnaround time from birth to results. For each metric, there is a state metric and a metric for each hospital.

The Nebraska Newborn Screening Program shares these metrics with hospitals to drive continuous improvement based on the phenomenon in human behavior known as the “Hawthorn effect” (i.e., if you start measuring something and you do nothing more than measure it and express those measurements to the user, you get improved service). In addition, when a problem is found, Nebraska talks with Pediatrix, and they apply Six Sigma principles to identify what the source of the problem might be so that corrections can be made.

This is the 5th year of the partnership between Nebraska and Pediatrix partnership in metrics driven continuous improvement in newborn screening, and all of the metrics are moving in the right direction. Mr. Slimak cited data from the Nebraska Department of Health and Human Services’ 2006 annual report Newborn Screening in Nebraska: Newborn Screening for Metabolic and Inherited Disorders and Newborn Hearing Screening to illustrate how data and analysis provided by Pediatrix Screening are used to drive continuous quality improvement in Nebraska’s newborn screening program. The average turnaround time from specimen collection to receipt at the Pediatrix Screening lab in Pennsylvania, for example, now takes about 16 hours (with UPS deliveries 6 days a week). The turnaround time for laboratory testing of the specimens is about 1.1 days. And the average turnaround time from birth to the provision of results has been driven down to 5.2 days.

Questions & Comments

Speaking from the audience, Julie Miller from Nebraska’s newborn screening program stated that she believes the relationship has been successful because of the contractual arrangement between Pediatrix Screening and the Department of Health, which clearly specifies expectations. She noted that quality improvement is built systemically into the Nebraska system. In response to a question from Dr. Rinaldo, Ms. Miller stated that Nebraska currently has 64 birthing places in its system, but the number fluctuates throughout the year.

Dr. Geleske asked when primary care physicians receive the laboratory results on newborn screening specimens. Mr. Slimak explained that all of the newborn screening results are available via the encrypted Internet. Abnormal results are called out either directly to the department or with one of Pediatrix Screening’s genetic counselors, who are available 24 hours a day, 7 days a week.

Dr. Ohene-Frempong asked whether hemoglobinopathies are included in the system. Mr. Slimak said yes.

Dr. Calonge asked how Nebraska reduces its false-positive rates when they are higher than national rates while also making sure it does not have false negatives. Mr. Slimak explained that Pediatrix Screening looks at outcomes and testing algorithms. They come up with what they think are enhancements to the algorithm. They then take the data and new algorithms to the state advisory committees, which then decide how to proceed. Dr. Rinaldo asked what the false-positive rate for tandem mass spectrometry (MS/MS) in Nebraska’s newborn screening program is. Mr. Slimak said the Nebraska Department of Health and Human Services’ 2006 annual report talks about this. He believes that for overall MS/MS, the false-positive rate is something less than 0.1 percent. For things other than MS/MS, it is something less than 0.5 percent. Ms. Miller noted that the 2006 annual report is available online at the Nebraska Department of Health and Human Services’ Web site at www.hhs.state.ne.us/nsp/.

Dr. Lavenstein asked about experience with cost. Mr. Slimak said his experience is that good, solid quality assurance and continuous improvement programs drive cost savings. When one starts a continuous improvement program, one can get immediate savings from “low-hanging fruit” that are as much as 10 or 15 percent of the cost. Then with a good established program, one can usually drive about a 5 percent reduction in costs annually. In response to a question from Dr. Howell, Ms. Miller said the screening cost per patient is $25.75. The charges per infant screened are $35.75, but $10 of that is returned to the state and used to help pay for metabolic formula and foods.

Dr. Howell asked whether Pediatrix Screening plays any role in long-term followup of affected newborns. Mr. Slimak replied that Nebraska uses Pediatrix Screening’s data system, so they could potentially be involved in long-term followup, but they are not involved in any significant way right now.

C. A Partnership between the New England Newborn Screening Program at the University of Massachusetts Medical School and two New England States for Newborn Screening and Followup

Roger B. Eaton, Ph.D., M.S.
Director
New England Newborn Screening Program (NENSP)
University of Massachusetts Medical School

Dr. Eaton described the arrangements under which the New England Newborn Screening Program (NENSP) provides newborn screening and followup services under contract to the states of Massachusetts and Rhode Island. NENSP is a program of Commonwealth Medicine, the service arm of the University of Massachusetts Medical School, and NENSP’s senior staff is faculty members at the medical school.

The mission of Commonwealth Medicine is to apply knowledge to improve health outcomes for those serviced by public health and human service programs. According to Dr. Eaton, the model of having newborn screening services and followup provided under contract to the state department of public health by a program affiliated with the service arm of a medical school offers a very good environment not only the delivery of newborn screening and short-term followup services, but also for technical research and development, for studying clinical outcomes and for clinical research, and for publications.

In Massachusetts, the contract between the state and the University of Massachusetts Medical School calls for NENSP to provide newborn screening and followup services from A to Z. In Massachusetts, therefore, NENSP screens every newborn, performs laboratory analysis and quality control, provides notifications when there are out-of-range results, and provides support and followup services. NENSP has standing specialty workgroups with specialists from outside the medical school and region (e.g., the metabolic workgroup, the cystic fibrosis workgroup, the hemoglobin workgroup) that provide day-to-day feedback, offer advice on implementing improvements in newborn screening and followup, and make recommendations on NENSP’s more than 90 analyte-specific worksheets.

NENSP has both a short-term followup database and a long-term followup database for newborns. The short term followup database is used to collect diagnostic and other information on newborns that undergo screening at birth. The long-term followup database for newborn screening grows out of the short-term database. It has tabs across the top for information captured from age 1 year, 1 to 3 years, 3 to 7 years, and up to 25 years.

If a baby born in Massachusetts has an out-of-range screen, NENSP notifies the pediatrician and specialist and coordinates the short-term followup. With three metabolic clinics in Boston alone, NENSP does not know when it first gets an out of range screening result where it would be most appropriate for the affected baby to be referred. Consequently, NENSP’s first contact is with the baby’s pediatrician. NENSP discusses the baby’s out of range result with the pediatrician and what the next steps might be and determines what specialist that physician uses that the patient's insurance might cover. Then NENSP proactively notifies the specialist. The pediatrician sees the child and refers the child to the specialist. NENSP checks back later to ensure that everything actually happened as planned.

In Rhode Island, the contract between the state and the University of Massachusetts Medical School calls for NENSP to provide newborn screening services and to provide followup services in partnership with the Rhode Island Department of Health. Thus, if a baby in Rhode Island has an out-of-range screen, NENSP notifies the state health department. The health department takes over from that point on using its own contact algorithm. In most cases requiring urgent referral, the health department notifies its own contract specialist directly; and that specialist makes a referral to the pediatrician. It then has the responsibility to followup to ensure that the referral took place. If the NENSP lab gets results either during the holiday, during weekend, during an evening, when the Rhode Island health department staff may not be available, NENSP has all of Rhode Island’s contact algorithms and notifies the appropriate specialist itself. NENSP then notifies the state health department of the contact, so the health department can do the followup later on.

Anne Marie Comeau, Ph.D.
New England Regional Newborn Screening Program
University of Massachusetts Medical School

Dr. Comeau made a brief comment about NENSP’s role in interpreting newborn screening results for parents and professionals. She noted although there is generic information about newborn screening available on the Web such as the American College of Medical Genetics (ACMG) ACT sheets for professionals, STAR-G fact sheets for parents, HRSA developed newborn screening brochures for parents, a person receiving a newborn screening result may require information that is more laboratory specific. The lab that performed the newborn screening test is potentially a good source of such information. In Massachusetts, for example, such information is supplied by NENSP. NENSP has certified clinical geneticists and biochemical geneticists, endocrinologists, pediatricians, etc., on staff, so it is able to apply an experience based laboratory analysis to help for anybody receiving a newborn screening result understand what that result might mean. NENSP gives advice as to urgency and next steps for newborns with positive screening tests and also provides relevant fact sheets.

Questions & Comments

Speaking from the audience, Kristi Zonno from Rhode Island’s newborn screening program noted that Rhode Island is a small state. She said that the contractual relationship with the NENSP both helps reduce costs for the state and offers it the benefits of NENSP’s expertise.

Dr. Ohene-Frempong asked Dr. Eaton to comment on how samples sent from Massachusetts and Rhode Island were tracked by NENSP. Dr. Eaton explained that the samples go from collection directly to the lab, and there are ways of tracking packages sent by UPS to make sure they get there. The NENSP makes sure it receives a package from every site in Massachusetts and Rhode Island at least once a day; if no package arrives from one of the sites, the program checks up on this.

Dr. Howell asked whether there were any problems in the handling of newborn screening specimens due to labs being closed on Sundays. Dr Eaton said that NENSP does perform analyses of newborn specimens on Sunday. Furthermore, NENSP has an understanding that goal is to interface baby with effective care. Thus, if there is any issue that is outside the capability of the newborn screening program in Rhode Island, NENSP takes care of it.

Dr. Telfair asked Dr. Eaton to comment on NENSP’s relationship with primary care providers in the community in performing followup activities with respect to affected newborns. Dr. Eaton said the initial contact goes to the pediatrician and educational materials go to primary care providers, but the NENSP generally works with tertiary care facilities.

D. Oregon’s Northwest Regional Newborn Screening Program: Newborn Screening and Followup Services for States in the Northwest Region and the Pacific

Michael Skeels, Ph.D., M.P.H.
Director
Oregon State Public Health Laboratory
Committee Member

Dr. Skeels (by telephone) described the contractual arrangements under which Oregon’s Northwest Regional Newborn Screening Program (NWRNSP) at the Oregon State Public Health Laboratory provides newborn screening and followup services to several sparsely populated states and other entities in the region.

NWRNSP serves as a regional center for newborn screening for six sparsely populated states (Oregon, Idaho, Nevada, New Mexico, Alaska, and Hawaii), for military facilities in Washington State and Korea, and for birthing facilities in Guam, Saipan, and Kwajalein. These states and other entities vary widely in their capacity to provide newborn screening program administration, management, education, and followup. Thus, the state departments of health and other entities enter into contracts with Oregon’s state health department (the Oregon Public Health Division) for the newborn screening services they need. Then each of the states operates as autonomous and state centered a program as possible.

The continuum of newborn screening services that NWRNSP is able to provide are the following:

• Education of parents (e.g., via the parents’ newborn screening brochure, which can be customized) and practitioners (e.g., via distribution of an online Practitioner’s Manual to doctors, midwives, nurse practitioners and laboratorians who work with newborns)

• Lab screening and confirmation

• Short-term followup and tracking

• Medical consultation and referral

• Population-based public health model

• Cost-effective pooling of resources

As illustrated by several slides that Dr. Skeels presented, the newborn screening and followup services provided to the six states and other entities vary, depending on their particular needs.

Questions & Comments

Speaking from the audience, Sylvia Au from Hawaii’s health department reported that contracting with Oregon for newborn screening services has been very satisfactory. Hawaii’s newborn specimens are sent via Federal Express to Oregon, and the screening results are available within a week. Hawaii also pays Oregon to do data entry (including Neometrics software for followup) and shares educational materials and information with other states that have contracts with Oregon. The cost for the screening is $47 per newborn, and that that includes the collection kit, education materials, initial screen, any repeat screens, confirmatory testing, and consultants. The entire state followup staff is funded through that fee, so the program is totally sustainable and does not use a penny of state money. Hawaii does quality assurance things via practice profiles, surveys with providers, and focus groups with families.

Dr. Calonge suggested that it would be interesting to catalogue how different states handle the issue related to newborn screening to develop a toolbox for other states. Dr. Howell agreed that having HRSA catalogue the different approaches was a good idea.

IV. LEGISLATIVE UPDATE

Emil Wigode
Director, Federal Affairs
Office of Government Affairs
March of Dimes

Mr. Wigode reported on Federal legislative developments of interest to Advisory Committee members. He noted, however, that newborn screening is a priority of the March of Dimes at both the Federal and state levels. March of Dimes chapters in the states have been trying to get the states to screen for the 29 core conditions on the uniform newborn screening panel recommended by the American College of Medical Genetics (ACMG). Currently, 16 states plus the District of Columbia are now screening for the 29 core conditions on the panel. In the months ahead, March of Dimes chapters in the other states will be trying to get them to screen for these conditions.

At the Federal level, at the end of 2007, after a few attempts to override President George W. Bush’s veto of the State Children's Health Insurance Program (SCHIP), Congress extended SCHIP to March 2009. There were no policy changes, so SCHIP will cover about 6 million children rather that being expanded to cover 9 million to 10 million children.

The Labor, Health and Human Services, and Education (LHHS) appropriations bill that Congress passed in 2007, with good increases for HRSA and other agencies, was vetoed by President George W. Bush in November 2007. In the final wrap-up session, therefore, Congress passed an omnibus bill with funding for 11 of the 12 appropriations bills that are supposed to move separately. In the process $6 billion was cut from the original LHHS bill sent to the President. For most programs, including HRSA’s Heritable Disorders Program, funding remained level.

Congress is about to reconvene for 2008. President Bush will deliver his State of the Union address on Jan. 28, 2008, and he will deliver his Fiscal Year 2008 budget proposal by Feb. 4, 2008. This will be a difficult year in terms of getting things done in Congress, in part because there is a presidential election going on.

Nevertheless, there is an opportunity to move bills such as the Newborn Screening Saves Lives Act. The Senate version of this bill (S. 1858) passed the Senate unanimously, and the House version has 68 sponsors. The Newborn Screening Saves Lives Act would reauthorize activities authorized in 2000 in the Children’s Health Act and expand a few areas. Specifically, it would do the following:

• Authorize a series of grant programs to help states expand their newborn screening programs to include the 29 core conditions in the uniform newborn screening panel.

• Authorize grant programs for educating and training health professionals, parents, and establishing a coordinated system of care.

• Renew the Advisory Committee on Heritable Disorders and Genetic Diseases in Newborns and Children for an additional 5 years of work; require the Secretary of Health and Human Services to respond to the Advisory Committee’s recommendations within 180 days; and add individuals with expertise in ethics and infectious diseases who have experience in the area of newborn screening as full members on the Advisory Committee.

• Authorize an Internet clearinghouse for information on newborn screening.

• Authorize the Centers for Disease Control and Prevention (CDC) to perform quality assurance for laboratories involved in newborn screening

• Require CDC in consultation with HRSA to develop a national contingency plan for newborn screening to be implemented in disasters.

• Authorize the National Institutes of Health to expand its research activities related to newborn screening via the Hunter Kelly newborn screening Research program.

The Genetic Information Nondiscrimination Act has passed the House but is delayed in Senate.

Questions & Comments

Dr. Lavenstein reported that on March 3 or March 4 of this year, the American Academy of Neurology has a “Neurology on the Hill Day.” About 100 adult neurologists and a few child neurologists will be coming to speak to their representatives or to their senators about three different topics. One of the topics is newborn screening, and efforts there will focus on the House and the Newborn Screening Saves Lives Act. Dr Lavenstein said he would like to get a copy of Mr. Wigode’s remarks.

V. REPORT FROM THE PERSONALIZED HEALTHCARE WORKGROUP AND ITS SUBGROUP ON NEWBORN SCREENING

In this session, Dr. Gregory Downing, the project director for the Personalized Healthcare (PHC) Initiative in the Office of the Secretary of Health and Human Services (HHS), briefly summarized his presentation on the initiative at the Advisory Committee’s meeting in September 2007. Then Dr. Stephen Downs, the co-chair of the PHC Workgroup’s recently established Subgroup on Newborn Screening, gave a report on the activities of that subgroup.

A. Background on the HHS Secretary’s PHC Workgroup
Gregory J. Downing, D.O., Ph.D.
Project Director
Personalized Healthcare Initiative
Immediate Office of the Secretary
U.S. Department of Health and Human Services (HHS)

Dr. Downing explained that the Personalized Healthcare (PHC) Workgroup is one of several workgroups of the American Health Information Community (AHIC), a public-private advisory body chartered in 2005 to make recommendations to the HHS Secretary on how to accelerate the development and adoption of health information technology for an interoperable nationwide health information system. AHIC is setting the stage for the integration of interoperable electronic health information in the U.S. health care system.

The PHC Workgroup has both a specific charge and a broad charge:

• Its specific charge is to make recommendations to AHIC to consider means to establish standards for reporting and incorporation of common medical genetic/genomic tests and family health history data into electronic health records, and provide incentives for adoption across the country including Federal Government agencies.

• Its broad charge is to make recommendations to AHIC for a process to foster a broad, community-based approach to establish a common pathway based on common data standards to facilitate the incorporation of interoperable, clinically useful genetic/genomic information and analytical tools into electronic health records to support clinical decisionmaking for the clinician and consumer.

The PHC Workgroup has identified four perspectives as being important to its vision of a consumer centric approach: clinician, researcher, health plan, and payer. It has also identified four priority areas across each of these perspectives: genetic/genomic tests; family health history; confidentiality, privacy, and security; and clinical decision support.

On July 31, 2007, AHIC accepted the PHC Workgroup’s recommendations to develop a PHC “use case” (discussed further by Dr. Downs below) addressing genetic/genomic tests and family health history. The genetic/genomic tests portion will address common polymorphisms associated with specific diseases, and their coding and incorporation into electronic health records. Newborn screening tests are an important category of genetic/genomic tests. In October 2007, t