Introducing the Medical Genetics Workforce and the NCC/RC ...

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  • Photo on slide: Two hands in a handshake. Both look formal, in business suits. They are the hand of 2 people of different races.
  • Two photos on slide: The first is the same one that was on the title slide. It is of two hands in a handshake. Both look formal, in business suits. They are the hand of 2 people of different races. This represents acquaintances. The second photo is of a pair of hands reaching out to hold the hand of a second person. While still a hand shake, this one has an sense of connectedness and caring that is characteristic of a partnership.
  • ABMG is the American Board of Medical Genetics ( ACMG is the American College of Medical Genetics ( FTE is a full time equivalent
  • ABGC is the American Board of Genetic Counseling ( ISONG is the International Society of Nurses in Genetics (
  • This was a federally-funded study conducted between 2002 and 2004. References for this study are: Cooksey JA, Forte G, Benkendorf J , Blitzer, MG (2005) The State of the Medical Geneticist Workforce: Findings of the 2003 Survey of ABMG Certified Geneticists. Genetics in Medicine 7(6): 439-443. Cooksey JA, Forte G, Flanagan P, Benkendorf J , Blitzer, MG (2006) The Medical Geneticist Workforce: An Analysis of Clinical Subgroups. Genetics in Medicine 8(10): 603-614.
  • Funded by the Maternal and Child Health Bureau, Health Services and Resources Administration in 2004.
  • This slide is a map of the USA, with the States in each Regional Collaborative Group filled in a different color. There are seven differently colored groups of states on the map. The Regional Collaborative Groups are listed below. Region 1: New England Regional Collaborative (NERC), with CT, MA, ME, NH, RI and VT Region 2: New York-Mid-Atlantic Consortium for Genetic and Newborn Screening Services (NYMAC), with DC, DE, MD, NJ, NY, PA, VA, and WV Region 3: The Region 3 Collaborative (Region 3) with AL, FL, GA, LA, MI, NC, SC, TN, PR, and USVI Region 4: The Region 4 Genetics Collaborative (Region 4) with IL, IN, KY, MI, MN, OH, WI Region 5: The Heartland Regional Genetics and Newborn Screening Collaborative (Heartland), with AR, IA, KS, MO, ND, NE, OK, and SD Region 6: The Mountain States Genetics Collaborative Center (MSGCC), with AZ, CO, MT, NM, NV, TX, UT, and WY Region 7: Western States Genetic Services Collaborative (WSGSC), with AK, CA, HI, OR, WA, and US Pacific Basin
  • NBS is Newborn Screening, a mandated public health genetics program carried out by each State after the birth of every baby.
  • Cartoon-like graphic on this slide is meant to depict the future. It shows the earth spinning past a computer. It is a metaphor for the information super-highway, and how it will connect us all.
  • This slide has the same graphic as the previous one: The cartoon-like graphic on this slide is meant to depict the future. It shows the earth spinning past a computer. It is a metaphor for the information super-highway, and how it will connect us all.
  • There is a photo on this slide of a big clear drinking glass, half full of soda or iced tea.
  • The photo on this slide is of a half full glass of orange juice, with half an orange beside it. There is a straw in the glass. Not only is the glass half full, but good things are bound to happen in genetics that will further connect us all.
  • This slide has a large photo of the “caring” hands reaching in a hand shake, It is the same photo that was used on an earlier slide to depict a partnership, not just a first meeting.


  • 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 NYMAC Region 3 Region 4 Heartland MSGRCC Western States NCC 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 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:
    • [email_address]
    • 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.