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
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.
Moving from Acquaintances
to Partners
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!
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
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.
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)
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
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
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
The 7 Genetics and NBS
Regional Collaborative
Groups
New England
Region
Western
States
Region 4
NYMAC

Heartland
NCC
MSGRCC
Region 3
PR/USVI
There are LEND Programs
in Each RC
•
•
•
•
•
•
•
Region 1:
Region 2:
Region 3:
Region 4:
Region 5:
Region 6:
Region 7:
4 LENDs (MA, NH, VT)
9 LENDs (DC, MD, NY, PA VA, WV)
5 LENDs (AL, FL, NC, TN)
4 LENDs (IN, OH, WI)
6 LENDs (IA, KS, MO, NE, OK, SD)
2 LENDs (NM, UT)
4 LENDS (CA, HI, OR, WA)
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
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
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
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
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
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
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
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
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
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)
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)
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.
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
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.
Thank You!
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.