The National Coordinating Center for the Regional Genetic and Newborn Screening Service Collaboratives (NCC/RC System) ACTions Matter: A Candid Conversation about Newborn Screening Results and Resources for Primary Care Providers Barry Thompson, MD Medical Director Alisha Keehn, MPA NCC Project Manager American College of Medical Genetics This work is funded by U22MC03957 awarded as a cooperative agreement between the Health Resources and Services Administration, Maternal and Child Health Bureau, Genetic Services Branch and the American College of Medical Genetics

Newborn Screening: A Brief History  1960’s Newborn Screening (NBS) Introduced  Phenylketonuria (PKU)  1970’s-80’s NBS expanded to include hemoglobin disorders and some metabolic disorders, with high variability between states  2000’s NBS expanded with technological advancements  Tandem Mass Spectrometry permits high throughput screening for over 54 treatable disorders.

Newborn Screening: A Brief History (2)  2006: “Newborn Screening: Toward a Uniform Screening Panel and System” published. This report identified 29 core disorders and 25 secondary disorders for which potential for addition to the uniform panel existed.  Today:  All 50 states screen for at least 28 disorders, variability still exists.  Over 4 million infants are screened each year

ACT Sheets: What are they?  Clinical Decision Support Tools  Geared to Primary Care Providers to provide basic information about heritable disorders identified through newborn screening  Initially developed and published in 2006 to accompany the ACMG Recommended Uniform Newborn Screening Panel  Reviewed and updated periodically through an established review process

ACT Sheet Development  ACT Sheets cover the following areas:  Newborn Screening  Transition to adult care  Carrier  Adult Genetics (e.g. Colon Cancer)  ACT Sheets are developed by a workgroup comprised of genetic specialists (clinical and lab), primary care providers, and families. They are vetted by subject matter experts, reviewed again by the workgroup, and approved by the ACMG Board of Directors

Website for ACT Sheets

ACT Sheets  Sickle Cell Anemia:  ACT Sheet ACT Sheet  Cystic Fibrosis:  ACT Sheet ACT Sheet  Algorithm Algorithm

Example of Sickle Cell Anemia Act Sheet

Example of Cystic Fibrosis Act Sheet

Example of Algorithm for Cystic Fibrosis

ACMG/NCC—AAP QuIIN Project  American Academy of Pediatrics’ (AAP) Quality Improvement and Innovation Network (QuIIN) program subcontracted by NCC to conduct a comprehensive quality and utility analysis of ACT Sheets  15 primary care practices participated  Geographically distributed  Urban, suburban, and rural  Diverse practice sizes

QuIIN Project Data Data taken from the AAP Newborn Screen Positive Infant ACTion Project Final Report provided to ACMG September 2011 Data taken from the AAP Newborn Screen Positive Infant ACTion Project Final Report provided to ACMG September 2011

QuIIN Practice Baseline  Outset of Project:  8 practices reported that in-range NBS results were not documented in the chart nor were the results shared with parents.  3 practices reported that infants were not assessed at the first visit for completion of the newborn screen.  1 practice had used the NBS guidelines outlined in the AAP’s clinical report to develop office policies and protocols. Data taken from the AAP Newborn Screen Positive Infant ACTion Project Final Report provided to ACMG September 2011

 Physicians reported strongly agreeing/agreeing that they were comfortable using the ACT sheet(s) as an initial interaction with parents/families for 95% (19) of the 20 different ACT sheets reported and rated. Data taken from the AAP Newborn Screen Positive Infant ACTion Project Final Report provided to ACMG September 2011 Note: #12, “unidentified ACT Sheet.” omitted from data analysis and results intentionally. Data taken from the AAP Newborn Screen Positive Infant ACTion Project Final Report provided to ACMG September 2011 Note: #12, “unidentified ACT Sheet.” omitted from data analysis and results intentionally. QuIIN Project Data

 Practice teams reported strongly agreeing/agreeing that ACT sheets were easily accessible when needed for 100% (20) of the 20 different ACT sheets reported and rated. Data taken from the AAP Newborn Screen Positive Infant ACTion Project Final Report provided to ACMG September 2011 Note: #12, “unidentified ACT Sheet.” omitted from data analysis and results intentionally. Data taken from the AAP Newborn Screen Positive Infant ACTion Project Final Report provided to ACMG September 2011 Note: #12, “unidentified ACT Sheet.” omitted from data analysis and results intentionally. QuIIN Project Data

 Physicians reported strongly agreeing/agreeing that they are likely to continue the use of ACT sheets for 90 %( 18) of the 20 different ACT sheets reported and rated. Data taken from the AAP Newborn Screen Positive Infant ACTion Project Final Report provided to ACMG September 2011 Note: #12, “unidentified ACT Sheet.” omitted from data analysis and results intentionally. Data taken from the AAP Newborn Screen Positive Infant ACTion Project Final Report provided to ACMG September 2011 Note: #12, “unidentified ACT Sheet.” omitted from data analysis and results intentionally. QuIIN Project Data

QuIIN Project Data Data taken from the AAP Newborn Screen Positive Infant ACTion Project Final Report provided to ACMG September 2011 Data taken from the AAP Newborn Screen Positive Infant ACTion Project Final Report provided to ACMG September 2011

 93% of the practice teams reported it is true that the ACT sheet content is germane to primary care providers.  87% of the practice teams reported it is true that the level of information and detail presented in the ACT sheets is appropriate for a general pediatrician in primary care practice.  87% of the practice teams reported it is true that the content was organized in a manner that would facilitate easy action on the part of the pediatrician.  93% of the practice teams reported it is true that they would recommend that colleagues use the ACT sheets. Data taken from the AAP Newborn Screen Positive Infant ACTion Project Final Report provided to ACMG September 2011 QuIIN Project Data

QuIIN Project Results  Practices were successful in improving NBS processes, including assessment, documentation, and communication with families.  Providers perceived no increase in provider time at first visit, 2-4 week visit, or during first contact with the family of an infant with an out of range result following implementation of improved processes.  Primary care practices increased their use of decision support tools after the project.

Primary Care Provider Experience  ACT Sheet Workgroup Member  Tracy Trotter, MD (San Ramon Valley Primary Care Medical Group, CA)  QuIIN Participant groups  All Pediatrics, VA (Thomas Sullivan, MD)  All About Children Pediatric Partners, PA (Eve Kimball, MD)

Tracy Trotter, MD

Thomas Sullivan, MD

Eve Kimball, MD

Panelists Dr. Tracy Trotter Dr. Thomas Sullivan Dr. Eve Kimball

Next Steps  Increase Awareness and Uptake  Primary Care Providers  Community Providers ◆ Expansion of Transition ACT Sheets and others ◆ Enhanced Accessibility  Development of an App

Acknowledgements  Health Resources and Services Administration  Sara Copeland, MD (Project Officer)  Michele Lloyd-Puryear, MD (former Project Officer)  American Academy of Pediatrics  Jill Healy, MS, Project Manager, Quality Improvement Innovation Network (QuIIN)  Michelle Z. Esquivel, MPH, Director, Division of Children with Special Needs; Director, National Center for Medical Home Implementation  Keri Thiessen, Med, Senior Health Policy Anaylst, QuIIN  AAP/ACMG QuIIN Expert Group - Lisa Cosgrove, MD- Tim Geleske, MD- Celia Kaye, MD, PhD - Alex Kemper, MD - Robert Saul, MD - Barry Thompson, MD

Thank you! Barry Thompson Alisha Keehn The NCC is funded by U22MC03957, awarded as a cooperative agreement between the Maternal and Child Health Bureau/Health Resources and Services Administration, Genetic Services Branch, and the American College of Medical Genetics.