New Waves of Newborn Screening: What's Next on the Horizon!

Transcription

1 New Waves of Newborn Screening: What's Next on the Horizon! VIRGINIA AWHONN 2016 Emily. Drake PhD, RN, FAAN Special Thanks to: C. Cuthbert, A. Gaviglio, K. Olson

2 Plan Introduction & Background Real-life Stories & Video Tips - Good Card/Bad Card Talk about Talking with Parents Case Scenarios Audience participation Resources for Providers & Families Discussion & Questions The End!

3 Newborn Screening - History and Background of these tests... It s so much more than the PKU test now Over 50 diseases that result in developmental delay and/or death if not recognized early

4 So much more than a PKU test! Disorders of amino acids, fatty acids, and organic acids Detected by a sophisticated laboratory technique (Tandem-Mass Spectrometry) Hemoglobinopathies (e.g. sickle cell disease) Other conditions Congenital adrenal hyperplasia Congenital hypothyroidism Glactosemia Biotindase deficiency Cystic Fibrosis Severe Combined Immune Deficiency (SCID) Critical Congenital Heart Disease (CCHD) Hearing Disorders NEW!! MPS 1 X-ALD

5 It s a Team Effort The importance of patient centered care a program that includes the family, the bedside RN, the pediatrician, the lab, the CDC and state and national leaders all working together

6 YOU ARE HERE NBS Process Model Pre-analytic NBS Birth DBS Collection Consent Storage Timing Shipping/ Couriers DBS Shipment Arrival at Lab Operating hours Staff LIMS systems Required Data Data Entry/ Confirmation Analytic -> Post-analytic NBS Critical Results One or two specimens Disorders Screened Rules/ Regulations Lab Processing/ Testing QA/QC Algorithms Assays Confirmation Communicate results Communicate results Communicate results Non-Critical Results All Results Evaluate newborn Intervention Initiated Diagnosis Confirmed

7 The process Sample Collection & Logistics On-time Results & Follow-up care coordination Sample Receiving Sample Testing

8 Follow-up After the Newborn Screening The importance of follow-up of screen positive newborns

9 New Recommendations: NEW!! Collect blood spots within hours after birth Must be received in the lab within 24 hours of collection Critical conditions must be reported within 5 days All other conditions within 7 days

10 Where the Bottlenecks are: Smaller, private hospitals Delivery volumes < 1000/year Home births/midwives Rural areas distance to the state lab Low income, minority, Hispanic families

11 Milwaukee-Wisconsin Journal Sentinel 11/16/13 permission to reprint:

12 Days after newborn screening reform, a baby's life is saved. Journal Sentinel Nov. 8, 2014 Juniper

13 Parent s Perspective Parent s Perspective of Newborn Screening What every Nurse needs to know

14 A Parent s Story The story of the Olson Family whose lives were forever changed by Newborn Screening Outcome would have been different if not for Nurse Kathy!

15 The Vital Role of Nurses in Newborn Screening Heel stick - blood sample collection on Filter Paper Completing newborn demographic information on the card Timely submission of blood spots to Lab within 24 hours Talking to parents about screening

16 Poor outcome Source: Mark Johnson, MJS, 11/16/13

17 We can do better!

18 Blood sample collection What the state labs wished nurses knew about sample collection Reference: Clinical & Laboratory Standards Institute (CLSI), NBS 01-A6: Blood Collection on Filter Paper for Newborn Screening Programs: Approved Standard Collect 24 to 48 hours after birth Fill circle, do NOT layer successive drops of blood

19 Order online:

20 Blood sample collection How to collect a valid blood spot sample What s wrong with this picture? Gravity is your friend - Use it!

21 Other tips for Blood Spot Collection:

22 Colorado s investigation of unsatisfactory/invalid specimens: Potential reasons for unsatisfactory due to collection No blood applied No blotter with slip Clots or uneven blood Serum separation Contaminated Multiple application Incomplete submission Quantity not sufficient

23 How to collect a good sample CLSI Newborn Screening DVD Informational Video by the Clinical and Laboratory Standards Institute

24 Good Cards-Bad Cards What to do & what not to do with blood spot cards! Fun, interactive activity demonstrating good and bad techniques in preparing blood spot cards Is this a Good Card or a Bad Card?

25 Is this a Good Card or a Bad Card? What s wrong with this card?

26 Is this a Good Card or a Bad Card? What s wrong with this card?

27 Is this a Good Card or a Bad Card? What s wrong with this card?

28 Good Card

29 Special circumstances Special circumstances that can affect a sample: Treatments Medications Prematurity TPN The more information that we provide on the card, the better the lab interpretation

30 What happens next?

31 Time is of the Essence Timeliness Systems & Process issues Human factors Standards, Guidelines & Best Practices Collection Transit time - courier Get it to the lab within hours Lab open 7 days/week Public reporting online Report Cards

32 Informing Parents about Newborn Screening: Tools and Strategies 1. Newborn screening saves lives. 2. Newborn screening is simple to do. 3. Newborn screening has to get done on time. 4. Remain calm 5. Everybody s doing it!

33 What to say to parents Strategies for discussing Newborn Screening with Parents Simple messages Sample Scripting We are screening now to determine what testing your baby may need to have done later, if any

34 Fill out Specimen Cards The importance of demographic information in Newborn Screening Cards Get a good address & phone #!

35 Got Results? Distribute & open the blood spot cards with your individual results What it feels like to be In their Shoes

36 Case Scenarios Discussion of the In Their Shoes cards Newborn Screening Case Scenarios: Good news! Screen - Mixed news Screen +/Test - Bad news! Screen +/Test + Really bad news!! Screen +/??

37 Newborn Screening Resources Information and handouts for providers & families AWHONN - Position Statement AAP Resources ACOG - Resources ACMG ACT sheets March of Dimes - NBS NEW!!

38 More Resources Genetic Alliance Baby s 1 st Test Save Babies through Screening STAR-G NewSTEPs State Health Departments

39 Virginia is leading the way! Our Website: Our Grants: HRSA, NewSTEPS Our Nurse: Jennifer O. Macdonald, MPH, BSN, RN Virginia Newborn Screening Program Virginia Department of Health 109 Governor St., 9th floor Richmond, VA (P) (F)

40 Good News Newborn Screening Saves Lives Act Funding research new tests and treatments Funding and improving screening CoIIN The Collaborative Improvement and Innovation Network March of Dimes initiatives Quality Improvement & Timeliness

41 Top Ten Reminders! Source: Missouri Health Dept

42 Questions & Discussion Discussion about challenges & opportunities

43 HELP!!! The Government has my DNA!

44 Critical Congenital Heart Disease (CCHD) screening The 7 Targets: 1. hypoplastic left heart syndrome (HLHS) 2. pulmonary atresia 3. transposition of the great arteries 4. truncus arteriosus 5. tricuspid atresia 6. tetralogy of fallot 7. total anomalous pulmonary venous return (TAPVR)

45 Critical Congenital Heart Disease (CCHD) screening Pass/Fail vs. Neg/Positive How to talk to parents about this

46 Life Saving! The newborn screening YOU perform can be life saving!

47 The End Thank you for all you do! Contact Information: Emily Drake PhD, RN, FAAN Jennifer O. Macdonald, MPH, BSN, RN Virginia Newborn Screening Program Virginia Department of Health 109 Governor St., 9th floor Richmond, VA (P) (F)

48 References 1. American Academy of Pediatrics Newborn Screening Authoring Committee. (2008). Newborn screening expands: Recommendations for pediatricians and medical homes--implications for the system. Pediatrics, 121(1), APHL (2011). Position/policy statement: newborn screening follow-up. Retrieved fromhttp:// 3. Davis, T. C., Humiston, S. G., Arnold, C. L., Bocchini, J. A.,Jr, Bass, P. F.,3rd, Kennen, E. M.,... Lloyd-Puryear, M. (2006). Recommendations for effective newborn screening communication: Results of focus groups with parents, providers, and experts. Pediatrics, 117(5 Pt 2), S Drake, E. & Gibson, M. (2010). Update on Expanded Newborn Screening: Issues for Consideration. Nursing for Women s Health, 14(3), Etchegary, H., Dicks, E., Green, J., Hodgkinson, K., Pullman, D., & Parfrey, P. (2012). Interest in newborn genetic testing: A survey of prospective parents and the general public. Genetic Testing & Molecular Biomarkers, 16(5), doi: 6. Farrell, M. H., Christopher, S. A., Tluczek, A., Kennedy-Parker, K., La Pean, A., Eskra, K.,... Farrell, P. M. (2011). Improving communication between doctors and parents after newborn screening. Wmj, 110(5), Hasegawa, L. E., Fergus, K. A., Ojeda, N., & Au, S. M. (2011). Parental attitudes toward ethical and social issues surrounding the expansion of newborn screening using new technologies. Public Health Genomics, 14(4-5), doi: 8. Hoff, T. (2008). Long-term follow-up of culture in state newborn screening programs. Genet Med, 10(6), Kemper, A. R., Fant, K. E., & Clark, S. J. (2005). Informing parents about newborn screening. Public Health Nursing, 22(4), Lipstein, E. A., Nabi, E., Perrin, J. M., Luff, D., Browning, M. F., & Kuhlthau, K. A. (2010). Parents' decision-making in newborn screening: Opinions, choices, and information needs. Pediatrics, 126(4), doi: 11. National Library of Medicine. (2009). Newborn Screening Coding and Terminology Guide. Retrieved from: National Newborn Screening and Genetics Resource Center (2013). National Newborn Screening Status Report. Retrieved fromhttp://genes-rus.uthscsa.edu/sites/genes-r-us/files/nbsdisorders.pdf 13. March of Dimes. Parents Guide to Newborn Screening Save Babies Through Screening Foundation, Inc Schmidt, J. L., Castellanos-Brown, K., Childress, S., Bonhomme, N., Oktay, J. S., Terry, S. F.,... Greene, C. (2012). The impact of false-positive newborn screening results on families: A qualitative study. Genetics in Medicine, 14(1), doi: 16. Therrell, B., Buechner, C., Lloyd-Puryear, JM., van Dyck, P., & Mann, M. (2008). What s new in newborn screening? Pediatric Health, 2(4), Waisbren, S. E., Albers, S., Amato, S., Ampola, M., Brewster, T. G., Demmer, L.,... Levy, H. L. (2003). Effect of expanded newborn screening for biochemical genetic disorders on child outcomes and parental stress. Jama, 290(19),