Maximizing Access to Genetic Services Using State and Federal Resources

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• Maximizing Access to Genetic Services Using State
  and Federal Resources
• Sylvia Au Lianne Hasegawa Anne
  Spencer

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Idahos PerspectiveAnne Spencer, MS, CGC
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Idaho Statistics

• Population 1.5 million
• Births 22, 500 per year
• Area 83,000 sq. miles (11th largest)
• Population Density 16 people/ sq. mile (44th)
• Median House-Hold Income 40,000

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Why Telemedicine?

• Newborn Metabolic Screening
• Detects 5-10 rare metabolic genetic conditions
  per year
• Metabolic Geneticist Travels to Boise Quarterly
• February, May, August, November
• Murphys Law

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Options for Families

• Wait until next clinic
• Fly to clinic (100-200) per person plus car and
  hotel
• Drive gas costs plus car and hotel

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Nearest Genetics Clinics to Boise
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St. Lukes Hospital Boise, Idaho
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Oregon Health and Sciences Univeristy Portland, OR
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Case 1 Carly

• Monday am 5 days old presented to her
  pediatrician with lethargy and poor feeding
• Monday pm P/C from OPHL to pediatricianNBS
  for Citrullinemia
• Monday pm Carly admitted to St. Lukes PICU for
  treatment
• Wednesday pm Telemedecine visit with Metabolic
  Geneticist and Nutritionist
• Six Weeks Later Next Idaho visit from Metabolic
  team

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Symptoms of High Ammonia

• Poor appetite
• Extreme sleepiness or lack of energy
• Irritability
• Vomiting
• If not properly treated, coma and death

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Carly was One Very Sick Kid
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Carlys Telemed Visit

• Genetic Counselor in Boise meets with family
• Telemed visit
• Docs, PICU staff, and family all present
• Opportunity to ask questions of expert
• Family feels connected
• Videotape of session made to share with family
• GC spends at least another hour with family after