September 2011 Washington DC

 Established by SACHDNC – January 2005  ….to review existing educational and training resources, identify gaps, and make recommendations regarding NBS to five groups: ▪ Health Professionals ▪ Parents ▪ Screening program staff ▪ Hospital/birthing facility staff ▪ The Public

 Jennifer L. Howse, PhD – Chair  President, March of Dimes  E. Stephen Edwards, MD  Past president, American Academy of Pediatrics  William J. Becker, DO, MPH  Director, Public Health Laboratories - Ohio  Gregory A. Hawkins, PhD  Center for Genomics – Wake Forest University

 Jennifer L. Howse, PhD  William J. Becker, DO, MPH  Gregory A. Hawkins, PhD  Jana Monaco, PaD  Tracy L. Trotter, MD  Don Bailey, PhD, MEd

 Don Bailey*  Tracy Trotter*  Joseph Bocchini  Natasha Bonhomme  Colleen Buechner  Frederick Chen  Alan Fleishman  Timothy Geleske  Jaimie Higgs  W. Allen Hogge  Joyce Hooker  Jana Monaco  Deborah Rodriguez  Cate Walsh Vockley  Jacque Waggoner  Andrea Williams  Mary Willis

 Established ongoing dialogue on NBS issues with the major primary care professional organizations – ACOG, AAP and AAFP  Expanded SC membership to include:  Parents  NBS program staff  Nurses  Genetic counselors

 Compiled listing of vetted websites with genetic/NBS resources.  Facilitated the establishment of a national NBS Repository of educational material for all targets in multiple languages.  NNSGRC  Genetic Alliance  NLM  NCC/RC

 Provides input and feedback to numerous organizations who are developing educational programs in genetics and NBS:  March of Dimes  Genetic Alliance  NCHPEG  SACGHS  AAP, ACOG, AAFP  Regional Collaboratives

 Workshop on Genetic Education Topics in Maternal & Child Health….as a subset of..  Developing a Blueprint for Primary Care Physician Education in Genomic Education  Convened by NHGRI/HRSA in June 2009  30 representatives of PCP organizations ▪ Knowledge areas ▪ Barriers of educating PCPs ▪ Possible educational interventions

 Summary and recommendations of the “Blueprint” meeting published in Genetics in Medicine – Feb 2010  SACHDNC approved E&T recommendation  Develop a plan for a “Learning Collarborative – Genetics in Primary Care Training Institute”

 Genetics in Primary Care Institute contract awarded to American Academy of Pediatrics  Robert Saul, MD and Beth Tarini, MD – Med Directors  Improve provision of quality genetic-based medicine and services across the lifespan.  Pair genetics experts with 20 practices [3 members] ▪ Mobilize a community of learners. ▪ Technical assistance center. ▪ Assess and address residency training needs

 Newborn Screening Clearinghouse ▪ Natasha Bonhomme  Genetic Alliance/HRSA ▪ “BabysFirstTest.org” – launched Sept 7, 2011 ▪ Consumer Task Force – one year programs ▪ Challenge Awards – application due October 30 ▪ Blogs and Twitter lists

 NBSC Challenge Awards Engage the community and bridge NBSC with existing programs – outreach, engagement, and educational efforts.  Awardees – April 1, 2011 – reports on BFT ▪ March of Dimes ▪ NYMAC ▪ Hawaii Dept of Health ▪ APHL

 Family History for Prenatal Providers  NCHPEG/Harvard Partners/GA/MOD/HRSA  Emily Edelman  Regional Genetics and Newborn Screening Service Collaboratives – [NYMAC] Deborah Rodriguez  NNSGRC Colleen Buechner  Congenital Conditions Program ▪ Natasha Bonhomme

 ACMGF Summer Genetics Scholar Program ▪ Barry Thompson  Preserving the Future of Newborn Screening ▪ Kelly Leight  Saving Babies Through Screening Foundation Jill Levy-Fisch Cate Walsh-Vockley

 ACMG/NBSTRN  Michael Watson, MD  American Academy of Pediatrics  Timothy Geleske, MD  American Academy of Family Physicians  Frederick Chen, MD  American College of Obstetrics & Gynecology  William Hogge, MD

 “Advances in NBS….new challenges to PCP, both educationally and in the management of affected infants. PCPs require access to information… collaboration with local, state, and national partners is essential….to optimize the function of the NBS systems”

 Partners:  AAP/AAFP/ACOG/NHGRI/CDC/NNSGRC NBSC/NCHPEG/ACMG/SACGHS/NCCRGC NICHD/GA/MOD  Focus on PCP roles in NBS:  Response to initial out-of-range result ▪ ACT Sheets / State NBS Program  Coordinate complete evaluation  Provide medical home/coordinate care  Educate families, healthcare workers

 Newborn Screening Saves Lives Act of 2007  Sec 4, 5H  “The Advisory Committee on Heritable Disorders in Newborns and Children shall include recommendations, advice, or information dealing with public and provider awareness and education.”

 Phase 1. Planning & Strategy Development  Media/environmental scan ▪ Stakeholder analysis ▪ Understand current messaging and resources ▪ Identify information gaps ▪ Define specific audiences  Facilitated “Strategy Summit” ▪ Review analysis and solidify goals ▪ Define priorities and target audiences Jennifer Nichols

 Phase 2: Developing and Pretesting Concepts, Messages, and Materials  Phase 3: Implementing the Campaign  Phase 4: Assessing Effectiveness and Making Refinements [Outcome Evaluation]

 There is continued need for E&T SubCommittee.  Should we address implementation…or new SubC?  Would benefit from increased ACOG participation.  Consideration of additional nursing representation.  Genetics training initiatives – include NBS.  As SACHDNC expands beyond NBS, should E&T charge change?  Collaboration with Evidence Review Group to produce guidance for groups nominating disorders.

 Phase 1 Recommendations:  1. Identify very specific audience to drive strategy  2. Clarify the message – broad and simple  3. Have both qualitative and quantitative objective outcome measures in place  4. Outline phases 2-4 with a budget

 E&T Subcommittee to serve in an advisory capacity to current groups involved in public/family education: ▪ AAP/AAFP/ACOG/NHGRI/CDC/NNSGRC NBSC/NCHPEG/ACMG/SACGHS/NCCRGC NICHD/GA/MOD and others  Avoid duplication / enhance collaboration

 Genetics in Primary Care Training Institute  HRSA contract – HRS30107 [GPCTI]  Advisory Board + ACNDNC  Development phase – 6 mo  Implementation of Projects/Evaluation – 42 mo  Final Report to ACHDNC

 “To increase the number of primary health care providers who are competent and confident in providing basic information about newborn screening and common genetic disorders to their patients and their families”

 “In regions with limited genetic expert access, to increase the number of primary health care providers who will be more knowledgeable and secure in providing care that is more comprehensive to individuals and their families with less common genetic disorders.”

 Genetics / genomic medicine literacy  Clinical utility of genetic tests  Role in newborn screening;  How to collect, document, and act upon a family health history;  Sources for guidelines and clinical recommendations for genetics and genomic medicine  Methods of informing families about genetic testing and obtaining consent  When and how to refer to a genetic counselor or geneticist

 Lack of time  Lack of geneticists to train primary care providers, especially those already in practice  Lack of enthusiasm  Poor genetics and genomic medicine literacy  Lack of certainty and confidence  Concerns about relevance to child health care

 Develop educational curriculum for residency training programs.  Assuring that board certification exams assess basic literacy in genetics and genomic medicine  CME on the practical aspects of incorporating genetics and genomic medicine into primary care  Promote participation in genetics and genomic medicine-related educational activities through the maintenance of board certification process  Create a website that would organize both clinical recommendations and practical office tools (e.g., family health history forms, risk questionnaires)

 “Learning collaborative”  Pair physicians from busy primary care practices with expert in genetics and genomic medicine  RFP due Jan 31, 2011 – cooperative agreement  Review of proposals – early March  Stay tuned for initial report in May 2011

 Residency training material through Regional Collaborative activities  Partnership with the AAP, AAFP, ACOG and the American Board of Pediatrics  Development of the Genetics in Primary Care Institute  Follow-up with SACGHS

 Need for increased public awareness of the NBS system

 Thank you for your attention.