Title: Assessing Recommendations Related To Timeliness of Newborn Screening

Transcription

1 Title: Assessing Recommendations Related To Timeliness of Newborn Screening Purpose: In January 2014, the Secretary s Discretionary Advisory Committee on Heritable Diseases on Newborns and Children (Committee) tasked the Laboratory Standards and Procedures Subcommittee to review current policies and practices relating to timeliness of newborn screening (NBS) in the United States. Background: In 2006 the report, Newborn Screening: Toward a Uniform Screening Panel and System made four recommendations on the timeliness of newborn screening. The Laboratory Standards and Procedures Subcommittee (Subcommittee) was tasked to (1) outline the NBS system, (2) investigate existing gaps and barriers in NBS systems, (3) identify best practices for achieving these goals, (4) develop a list of time-critical conditions that require urgent follow-up, (5) review the four recommendations in light of new technologies and (6) suggest revisions, if needed. The Association of Public Health Laboratories (APHL) in conjunction with the Laboratory Standards and Procedures Subcommittee developed this survey to identify the current practices, gaps, and barriers related to NBS timeliness in state NBS programs. Stakeholder input and results from this survey will be compiled into a report for the Laboratory Standards and Procedures Subcommittee to present to the Committee. All results will be presented in aggregate format and no individual or state will be identified. (Note: The Subcommittee recognized that there were inconsistencies in the 2006 report on the metrics used to define timeliness and will be addressing this in their report. For the purposes of this survey, birth is used as the reference point.)

2 SECTION 1: COMMUNICATION BETWEEN THE STATE NEWBORN SCREENING (NBS) PROGRAM AND BIRTHING FACILITIES 1. Does your NBS program provide feedback to individual birthing facility (ies) on the following? Please check all that apply. o Complete essential information (information the state NBS program needs to track a newborn, etc.) o NBS specimen collection time o NBS specimen transit time (from birthing facility to NBS laboratory) o Unsatisfactory NBS specimens o Other- please specify: I don t know [please go to question 3] No monitoring is done [please go to question 3] 2. How often is feedback about the above topic(s) provided to the birthing facility(ies)? o Monthly o Quarterly o Annually o Other- please specify: 3. Does your state provide technical assistance and/or training to birthing facility(ies)? o Yes [please go to question 3a] o No [please go to question 4] o I don t know [please go to question 4] 3a. How often is technical assistance and/or training provided to the birthing facility(ies)? o Monthly o Quarterly o Annually o Upon request/ other- please specify:

3 SECTION 2: STATE NBS PROGRAMS AND THE FOUR RECOMMENDATIONS RELATED TO TIMELINESS OF NEWBORN SCREENING Recommendation 1: Initial newborn screening (NBS) specimens should be collected at 24 to 48 hours of life. 4. Does your NBS program have a mechanism to ensure that all newborns in your state are screened? o Yes [please go to question 4a] o No [please go to question 4b] o I don t know [please go to question 5] 4a. Please describe your state s mechanism: 4b. What are the barriers that prevent your NBS program form ensuring each newborn is screened? 5. What percent of initial specimens are collected at hours of life? % of initial specimens are collected at hours of life My program does not collect this information 6. What percent of initial NBS specimens are collected at less than 24 hours of life? % of initial specimens are collected at less than24 hours of life My program does not collect this information

4 7. Please indicate the degree of the factors listed below have on your NBS Program's ability to meet Recommendation 1 (Initial newborn screening (NBS) specimens should be collected at 24 to 48 hours of life)? High turnover of staff responsible for dried blood spot collection at birthing facilities Compliance with collection from premature/sick infants (CLSI and/or Program standards) guidelines Lack of education of nurse managers/quality assurance staff at birthing facilities Lack of education of personnel who collect the specimens at birthing facilities Major Moderate Minor No Lack of feedback provided to birthing facilities on initial specimen collection performance Premature births Release of newborn prior to 24 hours of life Timing of practices in routine newborn care (nursing protocols) Transfer of newborn before specimen is collected 7a. Please describe any other gaps or barriers regarding your NBS program s ability to meet Recommendation What is your NBS program currently doing to ensure the collection of the initial newborn screening at hours of life? 9. What are the 3 most critical things that can be done to ensure initial specimens are collected in this timeframe within your state?

5 Recommendation 2: Newborn screening specimens should be received at the Laboratory within 24 hours of collection. 10. What percent of NBS specimens are received at your laboratory within 24 hours of collection? % of NBS specimens are received at the laboratory within 24 hours of collection My program does not collect this information 11. Please indicate the degree of the factors listed below have on your NBS Program's ability to meet Recommendation 2 (NBS specimens should be received at the laboratory within 24 hours of collection)? All NBS performed out of state Batching of specimens by birthing centers Geographic distance from birthing facility to NBS laboratory Inability to collect data on the date and time of sample send out time at that birthing facility Inability to collect data on the date and time of specimen receipt in the NBS laboratory Laboratory not accessioning specimens on the weekends or holidays Lack of dedicated courier system Lack of education of send-out personnel to send samples daily Lack of feedback provided to birthing hospitals on performance around timeliness of sending specimens to the laboratory Operating hours of courier system Operating hours of laboratory Weather delays Major Moderate Minor No

6 11a. Please describe any other gaps or barriers regarding your NBS program s ability to meet Recommendation What is your NBS program currently doing to ensure that all NBS specimens are received at the laboratory within 24 hours of collection? 13. What are the 3 most critical things that can be done to ensure all NBS specimens are received at the laboratory in this timeframe within your state? Recommendation 3: Newborn screen results for time-critical conditions should be available within 5 days of life. 14. Does your NBS program differentiate conditions based on how time-critical they are? o Yes [please go to questions 15 thru 20] o No [please go to question 21] 15. What conditions are considered time-critical in your state? Please check all that apply. o 3-Hydroxy-3-methylglutaric aciduria (HMG) o Argininosuccinic aciduria (ASA) o B-Ketothiolase (BKT) o Carnitine acylcarnitine translocase deficiency (CACT) o Carnitine palmitoyltransferase type 1 deficiency (CPT1A) o Carnitine palmitoyltransferase type II deficiency (CPT2) o Citrullinemia type II (CIT II) o Citrullinemia, type I (CIT) o Classic galactosemia (GALT) o Congenital adrenal hyperplasia(cah) o Glutaric aciduria type 1 (GA1) o Isovaleric acidemia (IVA) o Long chain L-3-hydroxyacyl-coA dehydrogenase deficiency (LCHAD) o Maple syrup urine disease (MSUD) o Medium chain acyl-coa-dehydrogenase deficiency (MCAD) o Methylmalonic acidemia ( methylmalonyl CoA mutase) (MUT) o Methylmalonic acidemia with hyperhomocysteinemia cobalamin C,D (CblC,D) o Propionic acidemia (PROP) o Trifunctional protein deficiency (TFP) o Very long chain acyl-coa dehydrogenase deficiency (VLCAD) o Other- please specify:

7 16. What percent of NBS results for time-critical conditions are available within 5 days of life? % of NBS results for time-critical conditions are available within 5 days of life? My program does not collect this information 17. What percent of NBS presumptive positive results for time-critical conditions are available within 5 days of life? % of NBS presumptive positive results for time-critical conditions are available within 5 days of life? My program does not collect this information 18. Please indicate the degree of the factors listed below have on your NBS Program's ability to meet Recommendation 3 (Newborn screen results for timecritical conditions should be available within 5 days of life)? All NBS performed out of state Contracts negotiated by state not program Current system not allowing for parsing of specific conditions Home births not reported (delayed screening) Laboratory not accessioning specimens on weekends or holidays Lack of consensus or state guidelines on which conditions are characterized as time-critical Operating hours of courier system Operating hours of NBS laboratory Second tier testing performed Specimen receipt time falls outside of the recommended time frame Staff turnover within the NBS program Major Moderate Minor No 18a. Please describe any other gaps or barriers regarding your NBS program s ability to meet Recommendation 3?

8 19. What is your NBS program currently doing to ensure that NBS results for time-critical conditions are available within 5 days of life? 20. What are the 3 most critical things that can be done to ensure NBS results for timecritical conditions are available within 5 days of life within your state? 21. What is your NBS program s target timeframe for availability of all positive NBS results? Recommendation 4: All NBS results should be available within 5 days of collection. 22. What percent of NBS results are available within 5 days of collection? % of NBS results are available within 5 days of collection My program does not collect this information 23. Please indicate the degree of the factors listed below have on your NBS Program's ability to meet Recommendation 4 (All NBS results should be available within 5 days of collection)? Ability to implement change Major Moderate Minor No All NBS performed out of state Delays in the processes that lead up to release of NBS results (specimen collection, receipt at NBS laboratory, etc.) Nature of the test itself (e.g., Lysosomal storage disorders requiring incubation; retest algorithms) Operating hours of NBS laboratory Release of paper NBS results to submitters via US postal service Second tier testing performed Technical issues and lack of timely support for NBS laboratory activities 23a. Please describe any other gaps or barriers regarding your NBS program s ability to meet Recommendation 4?

9 24. What are the 3 most critical things that can be done to ensure all NBS results for timecritical conditions are available within 5 days of collection within your state? 25. What is your NBS program currently doing to ensure that NBS results are available within 5 days of collection? Section 3: New technology/ new tests and their on timeliness of NBS The next set of questions assess whether new technology or adding new tests (e.g., testing for lysosomal storage disorders (LSDs), severe combined immunodeficiency (SCID)) in the last 8-10 years has ed the ability of the newborn screening system to meet the timeliness goals. Please answer the following questions for your NBS program. 26. Has the use of new technology or adding new tests in your NBS program improved and/or hindered your ability to perform timely newborn screenings (e.g., return of critical results within 5 days of life and/or return of all results within 5 days of sample receipt in the laboratory)? Please check all that apply. Improved [please go to question 26a] Hindered [please go to question 26b] Neither [please go to question 27] 26a. Please describe the improvements from the use of new technology or the addition of new tests in your NBS program. 26b. Please describe the hindrance from the use of new technology or the addition of new tests in your NBS program. 27. Does your laboratory perform 2nd tier molecular testing on the following disorders? Please check all that apply. o Cystic fibrosis o Galactosemia o Medium-chain acyl-coa dehydrogenase deficiency o Sickle cell disease o Very long-chain acyl-coa dehydrogenase deficiency o Other, please specify: Lab does not perform 2nd tier molecular testing [please go to question 29]

10 28. By how much does 2nd tier molecular testing delay notification of your positive NBS results? 1 day 2 days More than 2 days Does not affect notification Cystic fibrosis Galactosemia Medium-chain acyl-coa dehydrogenase deficiency Sickle cell disease Very long-chain acyl-coa dehydrogenase deficiency Other, please specify 28a. Please provide any comments you have regarding your choices from the previous question. 29. Does your laboratory perform 2nd tier tandem mass spectrometry (MS/MS)? o Yes [please go to question 30] o No [end survey] 30. Please list the disorders for which your laboratory performs 2 nd tier MS/MS? Disorder #1 [please go to question 31] Disorder #2 Disorder #3 Disorder #4 o I don t know [end survey] 31. By how much does 2 nd tier MS/MS testing delay notification of your positive NBS results? 1 day 2 days More than 2 days Does not affect notification Disorder #1 Disorder #2 Disorder #3 Disorder #4 31a. Please provide any comments you have regarding your choices from the previous question Thank you for completing the survey!