Newborn Screening Services Expanded Panel Implementation

1
Newborn Screening Services Expanded Panel
Implementation

• Changes and Challenges March 2006
• Division of Consolidated Laboratory Services

2
ObjectivesAt the conclusion of this session,
the participants will be able to

• Describe one change in the newborn screening
  regulations.
• Identify three new panel disorders
• Identify the technology used to test for most
  expanded panel disorder
• Identify two future web-based resources that will
  be available to healthcare providers.

3
Location
4
VirginiaNewborn Screening Services

• Newborn screening is mandated by theCode of
  Virginia.
• In 1966, Virginia began screening newborns with
  one disorder Phenylketonuria (PKU).
• In 2004, MCAD was added to the screening panel
  using technology that enabled expanded screening.
• In 2006, an expanded panel of 17 additional
  disorders will be added. Dried blood spot
  screening disorders will total 28.

5
Volume of Diagnosed Cases in VNSS
6
VNSS is a Partnership

• Parents and Guardians
• Health Care Providers
• Division of Consolidated Laboratory Services
• Virginia Department of Health, Virginia Newborn
  Screening Services
• Care Connection Network

7
VNSS Coordinated/ Comprehensive System

• Education -pre postnatal consumer
• -healthcare provider
• Dried blood-spot testing
• Follow up and referrals
• Diagnosis
• Care Coordination
• Medical and dietary management
• Long-term treatment

8
Legislative Action to Expand Screening

• 2005 General Assembly passed expanded panel
  legislation
• Increases number of disorders screened
• Removes specific treatment benefit for metabolic
  formula and low protein foods in Code
• Makes infants identified with disorders through
  newborn screening eligible for Children with
  Special Health Care Needs Program
• Code and regulatory changes in effect by March 1,
  2006

9
Newborn Screening Toward a Uniform Screening
Panel and System

• The Code states that conditions tested for
  newborn screening will be consistent with but
  not necessarily identical to the uniform
  condition panel recommended by the American
  College of Medical Genetics in its report,
  Newborn Screening Toward a Uniform Screening
  Panel and System
• Goal to make recommendations for
• Uniform condition panel to standardize newborn
  screening across states
• Model policies and procedures for state programs
• Model minimum standards for state programs
• National process for quality assurance and
  oversight

10
Uniform Core Panel 29 conditions to be tested
for through newborn screening
Attachment A contains full name and abbreviation
of disorders
11
New Regulations Required

• Board of Health shall promulgate regulations
  needed for
• Newborn Screening Services
• Children with Special Health Care Needs
• Regulations will include
• List of newborn screening tests
• Follow up procedures
• Appropriate referral processes
• Services available for infants and children with
  disorder identified through VNSS

12
New Regulations

• Clear and concise definitions
• Improved clarification of provider
  responsibilities
• Specific newborn screening specimen collection
  timelines
• Improved descriptions of accountability of system
  partners.

13
Significant Changes in Regulation

• Infants born in Virginia will be screened for all
  29 core panel disorders as listed in HRSA report
• List disorders will be reviewed biennially
• Defines responsibilities for specimen collection,
  submission, and notification for both hospital
  and non-hospital deliveries in detail

14
Significant Changes in Regulation

• Lists responsibilities and services provided by
  program areas
• Testing laboratory maintain CLIA certification,
  manage test kits, and report data
• VDH-Newborn Screening Education and follow up
  responsibilities including
• Ensuring that all diagnosed with heritable
  disorders or genetic diseases are referred to
  Care Connection for Children
• Comprehensive Sickle Cell Clinic network
• Metabolic treatment and genetic centers
• Care Connection for Children network

15
Significant Changes in Regulation

• States that healthcare providers receiving
  abnormal results shall notify parents and cause
  repeat specimens to be collected no later than 2
  business days after notification
• Notification of the newborns physician of record
  shall occur within one business day if an infant
  is discharged without a specimen collection.

16
How to find out more information about
Regulations in Virginia

• Go to Town Hall website http//www.townhall.s
  tate.va.us/
• Contains information about
• How regulations are formed
• Intended and final regulatory actions
• Agency analysis of proposed regulations
• Existing and proposed regulation text
• Newborn Screening Regulation 12 VAC 5 70
  (12 VAC 5 71-new regulation)

17
VDH responsibilities in implementation

• Develop protocols and education materials for
  professionals and parents
• Train workforce-hospitals, primary care
  providers, care coordinators, local health
  department, follow up staff

18
VDH responsibilities in implementation

• Newborn screening staff coordinates follow up
  until the infant is diagnosed, screened
  negative,or is 6 months of age.
• Metabolic Treatment Centers continue long-term
  medical management of all panel diagnosed
  individuals.
• CCC staff provides long-term care coordination
  for all diagnosed children/families. Pool of
  funds access for those at or below 300 of the
  federal poverty level.

19
Protecting the Citizens of Virginia -
Division of Consolidated Laboratory
Services Department of General Services Commonweal
th of Virginia
20
DCLS - Newborn Screening Laboratory
21
VA NBS Collection Device
22
Newborn Screening Methods - Whats new and whats
not

• Disorder Method
  Analyte/marker
• Amino Acids
• 1.Phenylketonuria TMS
  Phenylalanine
• 2.Homocystinuria TMS
  Methionine
• 3.Maple Syrup Urine Disease TMS
  Leucine/Isoleucine
• 4.Citrullinemia TMS Citrulline
• 5.Argininsuccinic Acidemia TMS Citrulline
• 6.Tyrosinemia Type I TMS Tyrosine
• Organic Acids
• 7.Isovaleric Acidemia TMS C5
• 8.Glutaric Acidemia type I TMS C5-DC
• 9.Hydroxymethylglutaric Aciduria TMS C5-OH
• TMSTandem Mass Spectrometry

23
Newborn Screening Methods- Whats new and whats
not (cont.)

• Disorder Method
  Analyte/marker
• 10.Multiple carboxylase deficiency TMS C3
  C5-OH
• 11.Methylmalonic acidemia TMS C3
  C4-DCC3/C2R
• (due to mutase deficiency)
• 12.Methylmalonic acidemia TMS C3
  C4-DCC3/C2R
• (cblA and cblB forms)
• 13. 3-Methylcrotonyl-CoA carboxylase deficiency
• TMS C5-OH
• 14.Proprionic acidemia TMS C3 C3/C2R
• 15.Beta-Ketothiolase deficiency TMS C51 C5-OH
• Fatty Acid Oxidation
• 16. Medium chain acyl-CoA dehydrogenase
  deficiency
• (MCAD) TMS C8 C6 C10 C8/C10R

24
Newborn Screening Methods- Whats new and whats
not (cont.)

• Disorder
  Method Analyte/marker
• 17. Very long-chain acyl-CoA
• dehydrogenase deficiency(VLCAD) TMS
  C141C14C16
• 18. Long-chain 3-OH acyl-CoA
• dehydrogenase deficiency (LCHAD) TMS
  C16-OHC16C18-1OH
• 19. Tri-functional protein deficiency
  TMS C16-OH
• 20. Carnitine uptake defect
  TMS CO
• Hemoglobinopathies
• 21. Sickle Cell Anemia IEF/HPLC Hb SS
• 22. Hb S/Beta Thalassemia IEF/HPLC Hb S/Th
• 23. Hb S/C Disease IEF/HPLC Hb S/C
• IEF/HPLC Iso-electric focusing and high
  performance liquid chromatography

25
Newborn Screening Methods- Whats new and whats
not (cont.)

• Disorder
  Method Analyte/marker
• 24. Galactosemia Beutler
  Uridyl transferase
• Hill Total Galactose
• 25. Biotinidase colorimetric
  assay biotinidase
• 26. Congenital Hypothyroidism IFA T4
  and TSH
• 27. Congenital adrenal hyperplasia IFA
  17-OHP
• 28. Cystic Fibrosis IFA IRT
• IFA Immuno-fluorescent assay
• 17-OHP 17-hydoxy progesterone
• IRT Immunoreactive trypsinogen

26
What is TMS or MS/MS (Tandem Mass
Spectrometry)
TMS produces ions from compounds in the
sample Analyzes the fragments according to
mass Quantitates by using internal standards
27
Tandem Mass Spectrometry Instruments in the VA
NBS Laboratory

28
Newborn Screening Cutoff Values

• Disorder Abnormal Critical
• Amino Acids
• Phenylketonuria Phenylalanine level 140
  280 µmol/l
• Homocystinuria Methionine level 70
  140 µmol/l
• Maple Syrup Urine Disease Leucine/Isoleucine
  310 460 µmol/l
• Citrullinemia Citrulline 75 100
  µmol/l
• Argininsuccinic Acidemia Citrulline 75 100
  µmol/l
• Tyrosinemia Type I Tyrosine 442 500
  µmol/l
• Organic Acids
• Isovaleric Acidemia C5 0.87 1.62
  µmol/l
• Glutaric Acidemia type I
  0.30 µmol/l
• Hydroxymethylglutaric Aciduria C5-OH
  1.0 2.0 µmol/l
• Multiple carboxylase deficiency C3
  6.0 8.0 µmol/l
• C5-OH 1.0 2.0 µmol/l

29
NBS Cutoff Values (cont.)

• Disorder Abnormal Critical
• Methylmalonic Acidemia C3 6.0 8.0 µmol/l
• (due to mutase deficiency) C4-DC 1.0
  1.5 µmol/l
• C3/C2 ratio 0.32 2 or
  more markers ABN
• Methylmalonic Acidemia C3 6.0 8.0 µmol/l
• (cblA and cblB forms) C4-DC 1.0 1.5
  µmol/l
• C3/C2 ratio 0.32 2 or
  more markers ABN
• 3-Methylcrotonyl-CoA C5-OH 1.0 2.0 µmol/l
• carboxylase deficiency
• Proprionic Acidemia C3 6.0 8.0 µmol/l
• C3/C2 ratio 0.32 2 or more markers
  ABN
• Beta-Ketothiolase deficiency C51 0.33 1.0
  µmol/l
• C5-OH 1.0 2.0 µmol/l 2
  or more markers ABN

30
NBS Cutoff Values (cont.)

• Disorder Abnormal Critical
• Fatty Acid Oxidation
• Medium chain Acyl-CoA C8 0.50 1.0 µmol/l
• dehydrogenase deficiency C6 0.59 1.0
  µmol/l
• (MCAD) C10 0.55 0.9 µmol/l
• C8/C10 ratio 0.30 2 or more
  markers ABN
• Very long-chain Acyl-CoA
• dehydrogenase deficiency (VLCAD) C141
  0.66 1.5 µmol/l
• C14 0.70 0.92 µmol/l
• C16 7.79 10.8 µmol/l
• 2 or more markers ABN
• Long-chain 3-OH Acyl-CoA C16-OH
  0.10 1.9 µmol/l
• dehydrogenase deficiency (LCHAD) C16 7.79
  10.8 µmol/l
• C18-1OH 0.11 0.5 µmol/l
• 2 or more markers
  ABN
• Tri-functional protein deficiency C16-OH
  0.10 0.19 µmol/l
• Carnitine uptake defect CO
  7.0 3.0 µmol/l

31
NBS Cutoff Values (cont.)

• Disorder Abnormal Critical
• Hemoglobinopathies Hb F/A/S F/A/C F/S F/C
  F/S/C F/A/D F/A/E F/S/E F/S/D
• F/A/Barts F/E F/S/A F only
• F/A/variant
• Galactosemia Beutler ABN and/or Beutler
  ABN with a
• a Hill 10 mg/dl Hill 15 mg/dl
  three
• consecutive ABN
• Beutlers
• Biotinidase partial to no enzyme 2
  consecutive ABNs activity

32
NBS Cutoff Values (cont.)

• Disorder Abnormal Critical
• Congenital Hypothyroidism T4 lt 5.5 mcg/dl
  TSH 60 µU/ml
• TSH 25 µU/ml 2 consecutive ABN
  T4s
• Congenital Adrenal lt1250 gms - 17-OHP 135
  17-OHP 160 ng/ml
• Hyperplasia 1250-1749 gms - 17-OHP 90
  17-OHP 135 ng/ml
• (dependent upon birth weight) 1750-2249 gms -
  17-OHP 65 17-OHP 90 ng/ml 2250
  gms - 17-OHP 50 17-OHP 90 ng/ml
• Cystic Fibrosis IRT 90 ng/ml lt 21
  days of age 2 consecutive ABN IRTs
  IRT 70 ng/ml gt 21 days of age 3 consecutive
  ABN IRTs for preemies

33
Cystic Fibrosis

• CF is not analyzed by TMS
• and brings two new immuno-
• fluorescent instruments to the
• NBS Lab
• CF presents a different
• screening perspective as compared to other
  disorders
• Note Meconium ileus may cause false-normal CF
  results

34
Collecting Repeat NBS Samples

• When do you need to collect a repeat device?
• Abnormal results
• Transfusion prior to NBS collection
• lt 24 hrs of age at collection
• First sample was unsatisfactory
• NOTE No recollection required due to antibiotics
• Repeat collection devices are sent to PCP with
  lab results.
• When do you have to pay for a repeat device?
• Only when the repeat sample is unsolicited

35
NBS Fee Increase

• From 32.00 to 53.00 (as of 11/1/05)
• What does the fee cover?
• All Laboratory Costs (direct and indirect)
• Equipment, supplies, personnel, IT, etc.
  REPEATS
• Most of VDHs Program Costs
• Follow-up services, treatment services,
  training/education, etc.
• 35 states have expanded screening panels
• Average fee - 47.50
• Ranging from 10.00 (NC) to 139.30 (AL)

36
How will the Lab Reports Change?An Example of a
Normal Report -

• NEWBORN SCREENING PROGRAM
• VIRGINIA DEPARTMENT OF GENERAL SERVICES
• DIVISION OF CONSOLIDATED LABORATORY SERVICES
• 600 North 5th Street, Richmond, VA 23219
• [phone]
• Toll Free 1-866-378-7730
• Report Date 01/12/2006
  
  
  Report Time 1006am
• Babys Name
  DOB 01/06/2006 DOC
  01/08/2006 Sample
  Device ID
• Yosemite BB
  TOB 1133 TOC
  1245 0600620491
  12117070
• 0051044
  Receive Date 01/06/2006
• Yosemite Samantha
  First Lab 0600620491
• FOLDER NUMBER 3490426
  Physician Fudd, Dr
• 
  Hosp. of
  Birth ACME Memorial Regional
• 
  Mothers Address
  425 Looney Toons Dr
• 
  
  Richmond, VA 23112

37
Reverse Side of the NBS Report

• Mandated Disorders
  Screened
• Amino Acid Metabolism Disorders
• Phenylketonuria (PKU)
• Homocystinuria (HCY)
• Maple Syrup Urine Disease (MSUD)
• Citrullinemia (CIT)
• Argininosuccinic acidemia (ASA)
• Tyrosinemia Type I (TYR I)
• Organic Acid Metabolism Disorders
• Isovaleric acidemia (IVA)
• Glutaric acidemia type I (GA I)
• Hydroxymethylglutaric aciduria or HMG-CoA lyase
  deficiency or 3-OH 3-CH3
• glutaric aciduria (HMG)
• Multiple carboxylase deficiency (MCD)
• Methylmalonic acidemia due to mutase deficiency
  (MUT)
• Methylmalonic acidemia cblA and cblB forms (Cbl
  A,B)
• 3-Methylcrotonyl-CoA carboxylase deficiency
  (3MCC)
• Propionic acidemia (PROP)

38
An Example of an Abnormal Report

• NEWBORN SCREENING PROGRAM
• VIRGINIA DEPARTMENT OF GENERAL SERVICES
• DIVISION OF CONSOLIDATED LABORATORY SERVICES
• 600 North 5th Street, Richmond, VA 23219
• [phone]
• Toll Free 1-866-378-7730
• Report Date 01/12/2006
  
  
  Report Time 1006am
• Babys Name
  DOB 01/06/2006 DOC
  01/08/2006 Sample
  Device ID
• Yosemite BB
  TOB 1133 TOC
  1245 0600620491
  12117070
• 0051044
  Receive Date 01/06/2006
• Yosemite Samantha
  First Lab 0600620491
• FOLDER NUMBER 3490426
  Physician Fudd, Dr
• 
  Hosp. of
  Birth ACME Memorial Regional
• 
  Mothers Address
  425 Looney Toons Dr
• 
  
  Richmond, VA 23112

39
What does the future hold???

• The addition of a Doctoral Scientist in NBS
• The possible addition of new disorders
• The introduction of new laboratory techniques
  and/or methods
• The implementation of electronic data exchange
  Secure web-based access to your patients sample
  information
• -And stay tuned for the next exciting chapter!!

40
DCLS/NBS Laboratory Contact

• For Newborn
• Screening Laboratory information - call
• Group Manager,
• Charlie Stevenson
• 804-648-4480 (ext 170)
• or toll free at
• 1-866-378-7730

41
Services Provided to Infants Identified With
Abnormal Results by Virginia Newborn Screening
Services (VNSS)

• VNSS handles follow up on critical and abnormal
  results
• Critical (presumptive positive) results are
  phoned to the Metabolic Consultant or healthcare
  provider.
• Abnormal (outside the established normal range)
  results tracking include letter from newborn lab,
  letters or phone calls from follow-up nurses at
  VDH.
• Specialists provide consultation on critical
  results, facilitate diagnostic testing.

42
Services Provided to Infants Identified With
Disease by Virginia Newborn Screening Services
(VNSS)

• Metabolic Treatment Centers provide medical and
  nutritional management for metabolic disorders
• Genetics Centers provide counseling and testing
  for families
• Care Connection for Children will provide care
  coordination-New linkage

43
Uniform Core Panel 29 conditions to be tested
for through newborn screening
Attachment A contains full name and abbreviation
of disorders
44
Organic Acidemias

• Inherited conditions that affect the way the body
  uses protein.
• The body is unable to properly break down certain
  components of protein for energy, growth and
  development.
• Usually these components are amino acids that are
  not completely broken down.
• Virginia panel
• Isovaleric Acidemia (IVA)
• Glutaric Acidemia Type I (GA-1)
• 3-Hydroxy-3Methylglutaryl-CoA-lyase deficiency
  (HMG)
• Multiple CoA Carboxylase Deficiency (MCD)
• Methylmalonyl-CoA Mutase Deficiency (MUT)
• 3-Methylcrotonyl-CoA Carboxylase Deficiency
  (3MCC)
• Adenosyl-Cobalamin Synthesis Defects (Cbl A,B)
• Propionic Acidemia (PROP)
• Mitochondrial Acetoacetyl-CoA Thiolase Deficiency
  (BKT)

45
Isovaleric Acidemia (IVA)

• IVA is an autosomal recessive disorder.
• Incidence 1100,000 live births
• Onset occurs between birth and one year.
• Caused by a deficiency of Isovaleryl-CoA
  dehydrogenase, an enzyme essential in the
  catabolism of the amino acid leucine.
• Symptoms include vomiting, lethargy, severe
  metabolic ketoacidosis, progressing to coma and
  death.
• Treatment includes a protein-restrictive diet,
  special dietary formula and carnitine
  supplementation.

46
Fatty Acid Oxidation Disorders

• Fatty Oxidation disorders affect the bodys
  ability to break down certain fats (fatty acids).
• Stored fat cannot be broken down for energy.
• The body begins to fail once the ingested food
  runs out.
• Episodes can be serious enough to lead to
  developmental delay, seizures, coma and even
  sudden death.
• Virginia panel
• Medium Chain Acyl CoA Dehydrogenase Deficiency
  (MCADD)
• Very Long Chain Acyl-CoA Dehydrogenase Deficiency
  (VLCAD)
• Long Chain Hydroxyacyl Co A Dehydrogenase
  Deficiency (LCHAD)
• Trifunctional Protein Deficiency (TFP)
• Carnitine Uptake Defect (CUD)

47
Long Chain Hydroxy Acyl-CoA Dehydrogenase
Deficiency (LCHAD)

• LCHAD is an autosomal recessive disorder.
• Incidence 175,000 live births
• Onset often precipitated by intercurrent
  illnesses.
• Caused by an enzyme defect that prevents the body
  from breaking down fatty acids into an energy
  source.
• Symptoms include lethargy, hypoglycemia,
  hypotonia, hepatic dysfunction and
  cardiomyopathy. Coma and sudden death may occur.
• Treatment consists of avoiding fasting, a
  high-carbohydrate diet and a low fat diet
  supplemented with MCT oil.

48
Amino Acid Disorders

• Amino Acid Disorders are inherited disorders that
  affect the bodys ability to utilize amino acids.
• Resulting in a build up of the amino acid or by
  products in the blood stream.
• These disorders result from
• A defect in the ability to break down amino acids
  for use.
• A defect in the bodys ability to get the amino
  acid into the cells.
• Symptoms may manifest quickly, even within the
  neonatal period.
• Virginia panel
• Tyrosinemia Type I (TYR 1)
• Argininosuccinic Aciduria (ASA)
• Citrullinemia (CIT)

49
Tyrosinemia Type I (TYR I)

• TYR I is an autosomal recessive disorder.
• Incidence lt1100,000
• Onset of symptoms may occur as early as 2 to 6
  weeks of age.
• Caused by a deficiency in the enzyme involved in
  the catabolism of the amino acid tyrosine.
• Symptoms include failure to thrive and chronic
  liver disease resulting from the accumulation of
  tyrosine and its metabolites in the liver,
  causing severe liver damage.
• Treatment include special dietary formula
  restricted in tyrosine and phenylalanine,
  Orfadin, and in the most severe cases liver
  transplant may be required.

50
Metabolic Treatment Centers

• Three centers under contract
• VCU
• UVA
• EVMS
• Provide 24/7 consultation on critical results
• Serve patients re diagnosis and on-going
  management through primary site and satellite
  clinics
• Provide nutritional case management-use of
  Registered Dieticians

51
Metabolic Treatment Center (MTC)
UVA MTC
VCU MTC
EVMS MTC
52
Metabolic Treatment Centers

• Consultants
• Northern Central Virginia
• Arti Pandya, M.D.
• Assistant Professor Human Genetics
• Virginia Commonwealth University
• Richmond, VA 804-828-9632 ext 139
• Western Southwestern Virginia
• William Wilson, M.D.
• Professor of Pediatrics
• University of Virginia Health System
• Charlottesville, VA 434-924-2665

53
Metabolic Treatment Centers

• Hampton Roads Eastern Shore
• Virginia Proud, M.D.
• Director, Division of Medical Genetics
• Childrens Hospital of the Kings Daughters
• Norfolk, VA
• 757-668-9723

54
Cystic Fibrosis

• CF is an autosomal recessive disorder
• Incidence
• 1 2,500 Caucasian
• 1 8,500 Hispanic live births
• 1 15,000 African Americans
• CF may manifest in the newborn period. Meconium
  Ileus is present in 15 of cases.
• Caused when the CF gene directs the bodys
  epithelial cells to produce a defective form of
  the protein CFTR.
• Symptoms include
• thick sticky stools
• poor growth and failure to thrive

55
Cystic Fibrosis

• Symptoms (cont.)
• Frequent infections
• Persistent cough that produces sticky sputum
• Treatment includes regular monitoring by a
  multi-disciplinary team.
• Particular attention is paid to management of the
  respiratory system and the digestive systems.
• Chest PT, medications to thin mucus , pancreatic
  enzymes to aid digestion and treatments for
  intestinal obstructions are only a few of the
  treatments to help manage CF.

56
Cystic Fibrosis Treatment Centers

• Medical Consultants
• Central Region
• Dr. Greg Elliott, M.D.
• School of Medicine
• Virginia Commonwealth
• Phone [phone]
• Western Region
• Dr. Deborah K. Froh, M.D.
• University of Virginia Medical Center
• 434-924-2250

57
Cystic Fibrosis Treatment Centers

• Northern Region
• Dr. John P. Osborn, M.D.
• Fairfax Neonatal Associates
• Phone [phone]
• Patti P. DeCorle, M.S.N., R.N.C.
• Fairfax Neonatal/The Pediatric Lung Center
• Phone [phone]

58
Cystic Fibrosis Treatment Centers

• Eastern Region
• Childrens Hospital of the Kings Daughters
• Dr. Cynthis Epstein, M.D.
• Eastern Virginia Medical School
• Phone [phone]
• Naval Medical Center Portsmouth
• Dr. Rees L. Lee, M.D.
• Phone [phone]

59
Treatments Needed Under Expanded Panel

• Expansion is largely for metabolic conditions
• 12 conditions may require special formulas
• Other modifications in dietary management, i.e.,
  low protein food intake
• Other treatments may include
• Nutritional supplements (e.g. Carnitine)
• MCT Oil
• Medication (NTBC)
• Pancreatic Enzyme Therapy
• Transplant (rare)

60
Care Connection for Children

• Receive referrals from VNSS for all newborns and
  other individuals under the age of 21 years
• Who have been screened
• Found to be positive for the disorders identified
  through the Va. Newborn Screening Services AND
• Who are residents of Va.
• Provide care coordination to all

61
Care Connection for Children Provides Services to
CSHCN Including

• Help families understand insurance benefits,
  advocate with carriers, and apply for insurance
  programs as applicable
• Help coordinate care among providers
• Help provide family support and referrals to
  other services
• Help apply to Pool of Funds for assistance in
  covering medical costs if eligible

62
Metabolic Treatment Center (MTC) and Care
Connection for Children (CCC) Areas
Frederick
NOVA
UVA MTC
Winchester
Clarke
Loudoun
Falls Church
Arlington
Warren
Fairfax
MCV MTC
Fauquier
Alexandria
Shenandoah
Fairfax City
Blue Ridge
Rappahannock
Prince William
EVMS MTC
Manassas Park
Rockingham
Page
Manassas
Culpeper
Stafford
Madison
Fredericksburg
Harrisonburg
Highland
Central VA
Augusta
Greene
King George
Orange
Spotsylvania
Westmoreland
Staunton
Albemarle
Bath
Waynesboro
Louisa
Caroline
Louisa
Charlottesville
Richmond Co.
Essex
Clifton Forge
Rockbridge
Northumberland
Lexington
Covington
Nelson
Fluvanna
Alleghany
Lancaster
Hanover
King Queen
King William
Alleghany
Buena Vista
Accomack
Goochland
Middlesex
Amherst
Botetourt
Buckingham
Roanoke City
Richmond City
Craig
Cumberland
Powhatan
New Kent
Salem
Mathews
Henrico
Bedford City
Chesterfield
Appomattox
Charles City Co.
Gloucester
Amelia
Colonial Heights
York
Northampton
Lynchburg
James City Co.
Roanoke
Giles
Buchanan
Williamsburg
Hopewell
Prince Edward
Montgomery
Hampton Roads
Bedford
Prince George
Campbell
Poquoson
Dickenson
Roanoke
Nottoway
Bland
Petersburg
Surry
Dickenson
Tazewell
Bland
Radford
Charlotte
Wise
Pulaski
Pulaski
Newport News
Dinwiddie
Franklin
Hampton
Isle of Wight
Sussex
Wythe
Lunenburg
Russell
Floyd
Norton
Floyd
SW
Norfolk
Smyth
Pittsylvania
Brunswick
Southampton
Washington
Henry
Portsmouth
Carroll
Halifax
Emporia
Chesapeake
Danville
Scott
Lee
Grayson
Bristol
Martinsville
Franklin City
Virginia Beach
Mecklenburg
Patrick
Suffolk
Galax
Greensville
63
Eligibility criteria for core services is not
based on financial need

• Residents of the Commonwealth
• Ages birth up to 21
• Diagnosed with a disorder
• Physical basis
• Expected to last 12 months or longer
• Produces at least one of
• Need for health care and ancillary services above
  usual
• Limitation in function, activities, or social
  role
• Dependency on medication, special diet, medical
  technology, assistive devices or personal
  assistance

64
Care Connection administers a Pool of Funds with
financial eligibility criteria

• Pool of Funds helps uninsured and underinsured
  families of CSHCN pay for
• Medications
• Hospitalizations
• Diagnostic tests
• Therapies
• Durable medical equipment
• Must be at or below 300 Federal Poverty Level
• Not an entitlement-subject to fund availability

65
Secondary Target Condition Panel










Currently picked up in Virginia Newborn
Screening Services


66
Estimated Diagnosed Cases
67
VDH Newborn Screening Resources (future)

• Practitioner Manual
• Condition specific fact sheets professional
• Condition specific fact sheets- consumer
• Web-based training modules
• New regulations
• Disorder specific training
• Expanded panel orientation presentation archived
  to VDH DCLS websites
• Care Connection services
• Web address http//www.vahealth.org/genetics/serv
  gp.htm

68
The End