Maximizing Access to Genetic Services Using State and Federal Resources

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

2. Idaho’s PerspectiveAnne Spencer, MS, CGC

4. 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

6. 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?

8. 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

10. Nearest Genetics Clinics to Boise

11. St. Luke’s Hospital Boise, Idaho

12. Oregon Health and Sciences Univeristy Portland, OR

13. 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

15. Symptoms of High Ammonia • Poor appetite • Extreme sleepiness or lack of energy • Irritability • Vomiting • If not properly treated, coma and death

16. Carly was One Very Sick Kid

17. 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

18. Carly with her family

20. 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

21. Grayson

22. 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.

23. 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

24. Grayson and his parents

26. Obstacles to Telemed

27. Logistics-Scheduling • OHSU • Telemed room • Telemed coordinator • Metabolic Physician • Metabolic Dietician • Idaho • Telemed room • Genetic Counselor • Family

28. Logistics-Timing • Often needs to be arranged on very short notice—2 days in Carly’s case • Don’t forget the Time Zone

30. 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

31. 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.

33. 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

34. Acknowledgments • The Grant • St. Luke’s Boise • Dr. Hirschfeld • Tom Roe • OHSU • Dr. Cary Harding • Martha Duffy • Lori Paradise Harding

35. …and we are making a difference.

36. Questions?