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Maximizing Access to Genetic Services Using State and Federal Resources Sylvia Au Lianne Hasegawa Anne Spencer. Idaho’s Perspective Anne Spencer, MS, CGC. Population ~1.5 million Births 22, 500 per year Area 83,000 sq. miles (11 th largest)

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Maximizing Access to Genetic Services Using State and Federal Resources

Sylvia Au Lianne Hasegawa Anne Spencer

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

Idaho Statistics
why telemedicine

Newborn Metabolic Screening

Detects 5-10 rare metabolic genetic conditions per year

Metabolic Geneticist Travels to Boise Quarterly

February, May, August, November

Murphy’s Law

Why Telemedicine?
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

Options for Families
case 1 carly
Case 1: Carly
  • Monday am: 5 days old presented to her pediatrician with lethargy and poor feeding
  • Monday pm: P/C from OPHL to pediatrician—NBS + for Citrullinemia
  • Monday pm: Carly admitted to St. Luke’s PICU for treatment
  • Wednesday pm: Telemedecine visit with Metabolic Geneticist and Nutritionist
  • Six Weeks Later: Next Idaho visit from Metabolic team
symptoms of high ammonia
Symptoms of High Ammonia
  • Poor appetite
  • Extreme sleepiness or lack of energy
  • Irritability
  • Vomiting
  • If not properly treated, coma and death
carly s telemed visit
Carly’s 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
case 2 grayson
Case 2: Grayson
  • Presented at 8 months with severe hypotonia
  • Pediatrician’s work-up found elevated Uric Acid
  • Dianositic labs confirming Lesch-Nyhan reported while family is on vacation.
  • When family returns from vacation in August, metabolic physician will not return until December
lesch nyhan
Lesch-Nyhan
  • HPRT (hypoxanthine-phosphoribosyltransferase) deficiency results in overproduction of uric acid
    • gout and renal dysfunction.
    • have neurological abnormalities including spasticity, choreoasthetosis, dysarthria,
    • compulsion to self-injure, abuse others
    • unable to sit or stand without assistance.
telemed visit
Telemed Visit
  • Genetic Counselor meets family at St. Luke’s
  • Highlights of the visit
    • Nurse from Pediatrician’s office is also present
    • Videotape of session is made for pediatrician
    • Family is able to ask lots of questions
  • After the visit, genetic counselor meets with family for 1 hour IN THE HALL
logistics scheduling
Logistics-Scheduling
  • OHSU
    • Telemed room
    • Telemed coordinator
    • Metabolic Physician
    • Metabolic Dietician
  • Idaho
    • Telemed room
    • Genetic Counselor
    • Family
logistics timing
Logistics-Timing
  • Often needs to be arranged on very short notice—2 days in Carly’s case
  • Don’t forget the Time Zone
obstacles facilities
Obstacles—Facilities
  • Telemed rooms are often tightly scheduled
    • We have little flexibility
    • No extra time to be in the room before or after visit
  • Telemed room is not near my office
    • All paperwork needs to be transported to site
    • Before and after meetings with family occur in hallway
obstacles technical
Obstacles--Technical
  • Problems with connections lead to delayed start
  • Time delay in hearing speaker is disconcerting and creates challenges to communication
  • Once feed was frozen for 20 minutes.
why we love it anyway
Why we LOVE it anyway
  • Families are able to “meet” their specialist quickly after a diagnosis is made
  • Families lives are not disrupted by expensive travel
  • Families feel less isolated and cope better
  • Families don’t seem to notice or even care about technical difficulties
acknowledgments
Acknowledgments
  • The Grant
  • St. Luke’s Boise
    • Dr. Hirschfeld
    • Tom Roe
  • OHSU
    • Dr. Cary Harding
    • Martha Duffy
    • Lori Paradise Harding