Introducing the Medical Genetics Workforce and the NCC/RC System to LEND

1. Introducing the Medical Genetics Workforce and the NCC/RC System to LEND Judith Benkendorf, MS, CGC American College of Medical Genetics National Coordinating Center for the Genetics and Newborn Screening Regional Collaborative Groups November 13, 2007

2. Why Should the Medical Genetics Community Meet LEND? • The genetics workforce is too small to ensure that all who could benefit from genetically-tailored care receive it. • All LEND professionals and trainees should view themselves as part of the solution. • The National Coordinating Center (NCC)/Regional Genetics and Newborn Screening Services Collaboratives (RC) system is a natural partner. • LEND programs are a vehicle for education and dissemination of NCC/RC programs and activities.

3. Moving from Acquaintances to Partners

4. Introducing the Medical Genetics Workforce (1) ABMG certified clinical geneticists (MD) • 1,253 total certificates (November 2007) ~1,100 active in the US (estimated) spend ~45% of their time seeing genetics patients (ACMG, 2007 data) ~1 FTE Certified MD geneticist per~560,00 people; or ~1.8 clinical geneticists per million population • Royal College of Physicians estimates 1 FTE/250,000 population. • Based on current population of roughly 301,140,000 the US needs 1200 FTE MDs. • We are only half way there!

5. Introducing the Medical Genetics Workforce (2) • Genetic Counselors (ABGC) • 2,437 board certified (November 2007; ABGC) • 1 genetic counselor for every 123,600 individuals • Assuming all are alive and practicing in the USA • Genetic counselors remain the fastest growing cohort, BUT: • 6% are men • 9% represent minority communities • Other team members • PhD medical geneticists (clinical laboratory directors) • Nurses in genetics • 300 ISONG members • Laboratory technologists and others

6. Genetics Workforce Study Conclusions • The medical genetics workforce situation is critical! • Current clinical services workforce not expected to meet patient care needs in next 5-15 years. • Serious mismatch exists between expansion of knowledge and workforce size. • Young physicians not entering field; competition expected to increase with emerging national physician shortage. • Many states and parts of US have inadequate supply of MD clinical geneticists to meet demand. • Issues of how MD geneticists work also a factor.

7. A Solution to the Maldistribution of Genetic Services and Providers System of 7 Regional Genetics and Newborn Screening Service Collaboratives (RCs) and a National Coordinating Center (NCC)

8. History (1) Converging events led to program’s development: • Screening for Heritable Disorders legislation enacted • Responded to AAP NBS Task Force Report (2000) • States and local public health agencies to enhance, expand and improve NBS services for children at risk, including increased access to underserved • States to develop infrastructure to support NBS programs • HRSA-commissioned ACMG report on newborn screening (NBS) would be forthcoming (2004-2006) • Recommending expanding NBS services • Exacerbating issues around access and maldistribution of genetic services providers

9. History (2) • These issues are best addressed by combining national, regional and local approaches • A network of regional centers was selected to: • Bring genetic and NBS services to local communities by sharing expertise and resources • Facilitate collaboration between public health (NBS), primary care, and (sub)specialist (genetics) providers • Capitalize on existing interstate NBS laboratory and surveillance program relationships

10. History (3) In 2004, Maternal and Child Health Bureau (MCHB) of the Health Resources and Services Administration (HRSA) funded: • 7 Regional Genetic and Newborn Screening Service Collaboratives (RC) • Groups of adjoining states with similar overall birthrates and shared programmatic histories • Coordinating center in each RC • A National Coordinating Center • Housed at the American College of Medical Genetics • Unprecedented partnership between public health genetics and a professional medical organization

11. The 7 Genetics and NBS Regional Collaborative Groups New England Region Western States NYMAC Region 4 Heartland NCC MSGRCC Region 3 PR/USVI

12. There are LEND Programs in Each RC • Region 1: 4 LENDs (MA, NH, VT) • Region 2: 9 LENDs (DC, MD, NY, PA VA, WV) • Region 3: 5 LENDs (AL, FL, NC, TN) • Region 4: 4 LENDs (IN, OH, WI) • Region 5: 6 LENDs (IA, KS, MO, NE, OK, SD) • Region 6: 2 LENDs (NM, UT) • Region 7: 4 LENDS (CA, HI, OR, WA)

13. Expectations for RCs • To strengthen: • Newborn and child screening and follow-up • Workforce capacity; bringing genetic services to local communities • Linkages between (sub)specialty care, primary care and public health • Genetic counseling services • Communication and education to families and health practitioners

14. The National Coordinating Center (1) • Facilitates communication and collaborations between RCs and nationally • Responds to issues best addressed nationally • Minimize duplication of efforts • Take advantage of shared resources • Organizes trans-RC workgroups • Provides guidance and technical resources • Translates best practices and RC activities into national initiatives

15. The National Coordinating Center (2) • Develops management guidelines and tools for RCs, providers, policymakers and other stakeholders • NCC interfaces with ACMG • When endorsement needed for NCC/RC work products (e.g., practice guidelines, ACT sheets) • When collaboration can leverage impact of activities in either direction • When RCs can benefit from existing ACMG relationships and convening power • Organizational partners • LENDs are natural partners

16. NCC Workgroups/Activities (1) • Workgroups comprised of RC representatives and national experts, including MCHB • LEND representatives can be added • Centrally coordinated by NCC • Telegenetics capacity development • Emergency preparedness • Genetic and NBS service provider directory built using GIS mapping • Management guideline development for NBS and common genetic tests • Point-of-care provider education and decision support through EMR

17. NCC Workgroups/Activities (2) Management Guidelines • NBS ACT(ion) Sheets and Diagnostic Algorithms • For all conditions in NBS uniform panel • Approved by ACMG Board of Directors • Distributed to NBS labs and programs • To accompany all “screen positive” lab reports • Distributed to RCs to coordinate use with local and regional plans • NBS ACT Sheets currently being written for non-S hemoglobin alleles • Beyond sickle cell disease and the thalassemias

18. NCC Workgroups/Activities (3) • NB Hearing Screening ACT Sheet being adapted into a brochure for parents of “screen positive” infants • Tailored to low-literate populations • Emphasis on genetic workup as part of etiologic diagnosis • Supplemental grant to develop similar primary care guidance for genetic testing • To be disseminated by genetics laboratories in the US with “positive” test results • Fragile X, CF and hemoglobinopathy testing as models • Model management guidelines for primary care providers • Transition to adult care • Family history • MR/DD

19. NCC Workgroups/Activities (4) • NBS long-term follow-up and data collection • Standardized clinical and laboratory languages • Integration with other projects including Quality of Genetic Services project (outcomes data valuable to building the business case for genetic services) • Collaborative research for rare disorders network • Translational research focus • Multiple partners (e.g., ACMG, NCC, NICHD) • National and international implications

20. NCC Workgroups/Activities (5) • NCC/RC system used for systems development and data collection • Data critical for development of therapeutics and evaluation of tests to be added to NBS panel • Genetics patient registry • Tracking NBS pilot studies • Organizing metabolic centers around follow-up

21. The Future for NCC and RCs (2007-2012) Will involve: • Multifaceted collaborations • Advanced communication technologies • Interconnected efforts • Long-term follow-up • Data collection • Lab performance and standardization • EMR • ACT Sheets

22. The Future for NCC and RCs (2007-2012) Will continue to focus on enabling providers by: • Developing tools and activities to move genetics and NBS services to local communities • Connecting public health, primary care and specialty providers (geneticists)

23. Yes, the Glass is Half Full! • AAP just announced that GENETICS will be one of its areas of focus in 2008 • Increased visibility in journal and at annual meeting • S 1858 (NBS Bill) has $5 million/year authorized for education, including for providers • Mark-up tomorrow (11/14/07)

24. Yes, the Glass is Half Full! • Possible appropriation of $30 million for autism • Much of it to LENDs if enacted • ACMG education activities for providers include developing genetic disease-based vignettes (www.understandingNF1.org) and other decision support tools that can be adapted by LENDs.

25. The Bottom Line: It’s Time for LEND and Medical Genetics to Move from Acquaintances to Partners (1) • The genetics workforce situation is critical, requiring coordinated, multi-faceted solutions. • Common Ground: The NCC/RC System addresses issues related to access to quality genetics and NBS services (viewing services as a continuum), and decreasing health disparities, at the level of individuals, families, communities and nationally. • NCC/RC program build bridges between genetics specialists, primary care (Medical Home) and public health • Genetic advances will impact the healthcare of people and families with neurodevelopmental disabilities. • NBS for developmental disabilities debate continues

26. The Bottom Line: It’s Time for LEND and Medical Genetics to Move from Acquaintances to Partners (2) • The RCs are a venue for LEND trainees to gain experience in public health genetics • The RCs provide a vehicle for dissemination of LEND materials and messages • The RCs can provide genetics and NBS resources to LENDs • Likewise, LENDs provide a network of professionals and trainees who can assist RCs in developing and piloting practice models and educational materials • The LEND community benefits from many NCC/RC initiatives and programs.

27. Thank You!

28. Acknowledgement and Website Visit us on the web at: www.nccrcg.org jbenkendorf@acmg.net This work was funded by U22MC03957, awarded as a cooperative agreement between the Maternal and Child Health Bureau/Health Resources and Services Administration, and the American College of Medical Genetics.