Medical Homes for Children with Heritable Disorders

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Medical Homes for Children with Heritable
Disorders

• Video Conference
• February 9, 2005

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Purpose of Regional Genetics and Newborn
Screening Collaboratives

• To enhance and support the genetics and newborn
  screening capacity of States across the nation by
  undertaking a regional approach toward addressing
  the mal-distribution of genetic resources
• Grant period
• 9/30/2004 5/31/2007

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The genetics service
system
Long Term Data
Transition to
Public Health
Adulthood
Infrastructure
Access to
Data integration
services (funding)
Children and
Public professional
Families
Medical Home
education
Medical
Genomics
Management
Models
Labs
Medical
Management
Standardization
of analytical
Training
testing
Clinical
Dx

Screening
management
algorithms
Confirmatory
Testing
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Grant Content Tasks

• Cluster activities
• Public health infrastructure
• Clinical diagnosis and management
• Newborn screening by MS/MS
• Regional activities

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Clinical Diagnosis and Management (Rich Pauli-
University of Wisconsin)

• Purpose to reduce inequities in access to
  services through regionalization of clinical
  genetic diagnosis, management and education
• Target children with birth defects and genetic
  disorders within the region who will benefit from
  assessment by a clinician with extraordinary
  experience and expertise in caring for their
  disorder

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Clinical Objectives

• Establish a formal structure of exchange clinics
  (clinics in which geneticists with special
  expertise will visit distant sites for
  consultative services with local clinical
  geneticists)
• Formalize long distance consultations
• Explore the utility of telemedicine in genetics
  on a regional basis

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Clinical Objectives

• Explore establishment of a medical home to
  provide adequate, ongoing, expert medical care
  for adults with childhood disorders
• Increase dissemination of expert knowledge
  through regional visiting professorships
• Increase dissemination of expertise through
  sharing of patient-oriented resources

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Newborn Screening and MS/MS(Piero Rinaldo Mayo
Clinic)

• Purpose Implement universal screening and
  confirmatory testing of newborns for inborn
  errors of amino acid, organic acid and fatty acid
  metabolism

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Newborn Screening and MS/MS

• Anticipated benefits
• Uniformity of testing
• Improved analytical performance
• Elimination of gaps
• Validation of a model that could be adopted by
  other regions

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NBS and MS/MS Objectives

• Achieve uniformity of testing panel by MS/MS to
  maximize detection of affected newborns within
  the region
• Improve overall analytical performance
• Improve and standardize confirmatory testing and
  short-term follow up
• Set and sustain lowest achievable rates of false
  positive results

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Public Health Infrastructure(Claudia Nash,
Illinois DPH)

• Create a framework for sharing existing models
  for genetics education and service issues
• generate new models where needed

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Public Health Infrastructure Objective 1

• Establish a regional collaborative forum to
  identify and address common concerns and issues
  related to genetic and newborn screening service
  systems administered by state agencies
• Identify and invite appropriate representatives
  from each state to participate on working groups
  related to seven key focus areas relevant to
  public health infrastructure
• Facilitate ongoing communication among workgroup
  members using videoconferences, conference calls,
  and Region 4 Genetics Collaborative website

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Public Health Infrastructure Objective 2

• Conduct a systematic assessment of the needs and
  gaps as well as strengths of state genetic and
  newborn screening service systems within the
  region
• Develop a methodology and survey tools for
  conducting the needs assessment
• Identify key stakeholders and distribute needs
  assessment surveys
• Compile, analyze and share survey results with
  working group members and the Collaboratives
  advisory committee prior to the regional meeting

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Public Health InfrastructureObjective 3

• Develop a regional coordinating plan that will
  articulate ways for states to share expertise,
  best practice models and existing materials
• Compile a directory of key state agency personnel
  to foster use of informal channels for technical
  assistance among states
• Identify priority needs for each focus area and
  propose best practice models to address needs
  using a regional approach
• Develop consensus on regional coordinating plan
  during Year 1 regional meeting

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Public Health Infrastructure Objective 4

• Implement the plan to share expertise and
  practice models and facilitate technical
  assistance among states
• Identify and fund special projects during Years 2
  and 3
• Convene a videoconference at the end of Year 2 to
  review progress in implementing the regional
  plan, and a regional meeting in Year 3 to plan
  for sustainability

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Implementation of Medical Homes for Children with
Heritable Disorders

• Leader Dr. Charles Onufer from Illinois
• Purpose- develop a regional work plan
  incorporating the Medical Home Model

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What is a Medical Home?

• Its an approach for
• providing access to quality health care in in a
  cost-effective manner in a primary health care
  setting.

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Primary Health Care Setting
Preventive Health Care
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Primary Health Care Setting
Preventive Health Care
Acute Health Care
80 90
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Primary Health Care Setting
Preventive Health Care
Acute Health Care
Chronic Health Care
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Primary Health Care Setting
Preventive Health Care
Acute Health Care
Chronic Health Care
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Primary Health Care Setting
Preventive Health Care
Acute Health Care
Chronic Health Care
10 - 20
Failed NB Metabolic Screening
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What is a Medical Home?

• Its an approach for
• providing access to quality health care in in a
  cost-effective manner in a primary health care
  setting.
• Its a special relationship that a family has
  with their primary care physician

Proactiveand not Reactive Quality of Health Care
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What do families mean when they say they have a
Medical Home?
1st Component
Medical Home Model
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• The primary care physician (PCP) and other
  health care providers
•    Know the childs health history
•    Listen to the parents and childs concerns
  and involves them in decision-making
•    Share a trusting, collaborative relationship
  with the family and
•    Treat the child with compassion and
  understanding
• Parents and child
• Are comfortable sharing concerns and questions
  with the childs primary care physician
  and other health providers.
•  Routinely communicate their child's needs and
  family priorities to the primary care
  physician, who facilitates communication between
  the family and other health care providers
  when necessary.
•  

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What do physicians mean when they say they
provide a Medical Home?
2nd Component
Medical Home Model
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Critical Supporting ElementsMedical Home Model
Standards of Pediatric Care
Standards Developed by Recognized Professional
Organizations
G U I D E L I N E S
P O L I C I E S
Information
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Critical Supporting ElementsMedical Home Model
Standards of Pediatric Care
G U I D E L I N E S

• POLICIES
• Newborn Screening for Congenital Hypothyroidism
  Recommended Guidelines (RE9316) - Pediatrics Vol
  91, No 6 June, 1993, pp 1203-1209
• Newborn Screening Fact Sheets (RE9632)
  Pediatrics Vol 98, No 3 Sept, 1996, pp.473-501

P O L I C I E S
Information
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Critical Supporting ElementsMedical Home Model
Standards of Pediatric Care
G U I D E L I N E S

• PRACTICE GUIDELINES
• Family-centered Care
• National Guideline Clearing House
• www.guideline.gov

P O L I C I E S
Information
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Primary Care Physician

• Accessible
• Family-Centered
• Comprehensive
• Continuous
• Coordinated
• Compassionate
• Culturally-competent

• Chronic Care Management that is

and for which the PCP
Shares Responsibility
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27 DisordersInformation Our Charge

• Basic Information
• Incidence
• Referral Specialists by Disorder
• Community Resources for Families
• National Resources
• Family Questions Concerns
• CPT Coding Reimbursement

GIS Regional Map
What Information Families and Physicians Want and
Need
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Future Work Groups

• Scenario Report to PCP that a child in his/her
  practice has failed one of the 27 entities
  screened on NB Metabolic Screening Panel.
• Whats next?

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PCP Providing aMedical Home

• Basic Information
• General Information
• Incidence and Prevalence
• Policies
• Best Practice Guidelines
• Medical Home 7 Cs
• Referral to Geneticist for Diagnostic Confirmation

Prior to a confirmed diagnosis . . .
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PCP Providing aMedical Home

• Family FAQs
• Knowledge of Community/Regional Resources
• Knowledge of National Resources
• Medical Home 7 Cs
• Monitoring Responsibilities
• CPT Coding for Reimbursement

Once Diagnosis has been confirmed . . .
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Work Groups by Template Component

• General information including incidence and
  prevalence of each of the 27 entities
• Research policies and best practice models for
  each entity or categorically
• National, State and Regional Resources (GIS Map
  for Region)
• Geneticists by specialty
• Support groups
• Other resources by diagnosis as appropriate

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Work Groups by Template Component

• CPT Coding and Reimbursement
• Family FAQs and Scenarios
• Medical Home 7 Cs

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Work Groups by Project

• In-service Training Program for PCPs
• PPs for practice educational programs
• Website Development
• Publish all 27 templates
• Publish GIS maps

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The Essential Element for both families and
professionals
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Additional Resources

• The National Center of Medical Home Initiatives
  for Children with Special Needs
• www.medicalhomeinfo.org

• State Resources
• Training Programs Materials
• Screening Initiatives

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National Center for Cultural Competence (NCCC)

• http//gucchd.georgetown.edu/nccc/index.html

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For More Information Contact
Division of Specialized Care for
Children(DSCC) 2815 W. Washington, Suite
300 P.O. Box 19481 Springfield, IL 62794-9481
1-800-322-3722
www.uic.edu/hsc/dscc