Development of a Model for Quantitative Assessment of Newborn Screening in Japan Using the Analytic Hierarchy Process
Abstract
:1. Introduction
2. Materials and Methods
2.1. Analytic Hierarchy Process
2.2. Structuring the Assessment Items
2.3. Participants and the Questionnaire
2.4. Determination of Allocated Points
2.5. Validation of the Scoring Algorithm
3. Results
3.1. Participants
3.2. Calculated Weights and Scores
4. Discussion
5. Conclusions
Supplementary Materials
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Conflicts of Interest
References
- King, J.R.; Hammarström, L. Newborn Screening for Primary Immunodeficiency Diseases: History, Current and Future Practice. J. Clin. Immunol. 2018, 38, 56–66. [Google Scholar] [CrossRef] [PubMed] [Green Version]
- Therrell, B.L.; Padilla, C.D.; Loeber, J.G.; Kneisser, I.; Saadallah, A.; Borrajo, G.J.; Adams, J. Current Status of Newborn Screening Worldwide: 2015. Semin. Perinatol. 2015, 39, 171–187. [Google Scholar] [CrossRef] [PubMed] [Green Version]
- Tajima, T. Newborn Screening in Japan-2021. Int. J. Neonatal. Screen 2022, 8, 3. [Google Scholar] [CrossRef] [PubMed]
- Wilson, J.M.G.; Jungner, G. Principles and Practice of Screening for Disease; World Health Organization: Geneva, Switzerland, 1968.
- Dobrow, M.J.; Hagens, V.; Chafe, R.; Sullivan, T.; Rabeneck, L. Consolidated Principles for Screening Based on a Systematic Review and Consensus Process. CMAJ 2018, 190, E422–E429. [Google Scholar] [CrossRef] [PubMed] [Green Version]
- Burlina, A.; Simon, A.J.; Anupam, C.; Heather, J.C.; Simon, H.; Teresa, H.Y.W.; Georgina, M.; Patricia, R.; Erica, F.S.; David, C. A New Approach to Objectively Evaluate Inherited Metabolic Diseases for Inclusion on Newborn Screening Programmes. Int. J. Neonatal. Screen 2022, 8, 25. [Google Scholar] [CrossRef] [PubMed]
- Forman, J.; Coyle, F.; Levy-Fisch, J.; Roberts, P.; Terry, S.; Legge, M. Screening Criteria: The Need to Deal with New Developments and Ethical Issues in Newborn Metabolic Screening. J. Community Genet. 2013, 4, 59–67. [Google Scholar] [CrossRef] [PubMed]
- Advisory Committee on Heritable Disorders in Newborns and Children. Condition Nomination and Review. Available online: https://www.hrsa.gov/advisory-committees/heritable-disorders/condition-nomination (accessed on 17 June 2023).
- UK National Screening Comittee. Guidance: Criteria for a Population Screening Programme. Available online: https://www.gov.uk/government/publications/evidence-review-criteria-national-screening-programmes/criteria-for-appraising-the-viability-effectiveness-and-appropriateness-of-a-screening-programme (accessed on 17 June 2023).
- Saaty, T. The Analytical Hierarchy Process; McGraw Hill: New York, NY, USA, 1980. [Google Scholar]
- Omkarprasad, S.V.; Sushil, K. Analytic Hierarchy Process: An Overview of Applications. EJOR 2006, 169, 1–29. [Google Scholar]
- Schmidt, K.; Aumann, I.; Hollander, I.; Damm, K.; von der Schulenburg, J.M. Applying the Analytic Hierarchy Process in Healthcare Research: A Systematic Literature Review and Evaluation of Reporting. BMC Med. Inform. Decis. Mak. 2015, 15, 112. [Google Scholar] [CrossRef] [PubMed] [Green Version]
- Madzík, P.; Falát, L. State-of-the-art on Analytic Hierarchy Process in the Last 40 Years: Literature Review Based on Latent Di-richlet Allocation Topic Modelling. PLoS ONE 2022, 17, e0268777. [Google Scholar] [CrossRef] [PubMed]
Categories | Subcategories (Criteria) | |
---|---|---|
Disease/condition | 1. | Incidence of the disease/condition |
(≥1/20,000, ≥1/50,000 but <1/20,000, ≥1/100,000 but <1/50,000, ≥1/200,000 but <1/100,000, <1/200,000) | ||
The incidence of the disease/condition should be adequately understood. | ||
2. | Onset of serious symptoms within 96 h of birth * | |
(No onset, ≥1% but <30%, ≥30% but <70%, ≥70% or unknown) | ||
The incidence of serious symptoms observed before obtaining screening test results should be clear in order to obtain optimal outcomes for early detection and treatment via screening. | ||
3. | Natural history of the disease/condition | |
(clear; unclear) | ||
The natural history of the disease/condition and their variant forms concerned should be adequately understood. | ||
4. | Disease burden without treatment | |
(high disease burden; moderate disease burden; low disease burden) | ||
The disease burden of the untreated disease/condition and its variant forms should be adequately understood and it should be a significant health problem. | ||
Screening test | 5. | Screening test performance |
(high sensitivity and specificity; high sensitivity but low specificity; others) | ||
Screening test performance should be adequately precise and validated. | ||
6. | Availability of dried blood specimens | |
(Yes, No) | ||
Collecting samples as dried blood specimens is the principal approach. In the case of other methods of specimen collection, it should be simple and less invasive. | ||
7. | Number of samples that can be processed | |
(≥200 samples/day/full-time equivalent (FTE), ≥100 but <200 samples/day/FTE, <100 samples/day/FTE) | ||
The facility where newborn screening is performed should be able to process a sufficient volume of specimens. | ||
8. | Time to obtain screening test results | |
(<1 day, ≥1 but <2 days, ≥2 days) | ||
The time taken to obtain screening test results should be clear. | ||
9. | Cost of screening test (Japanese yen, JPY) | |
(<500 JPY, 500–999 JPY, 1000–4999 JPY, ≥5000 JPY) | ||
The additional costs of introducing the screening test should be clear. | ||
10. | Number of diseases/conditions testable at once | |
(≥4, 2–3, 1) | ||
Screening tests can measure multiple items simultaneously and should efficiently detect multiple diseases. | ||
Intervention | 11. | Availability of clinical guidelines |
(available; partially available; not available) | ||
There should be established, evidence-based, agreed clinical guidelines covering cut-off points for testing, additional testing, and diagnosis for subjects with positive screening tests, policies for individuals to whom interventions should be provided, and standard and effective treatment strategies. | ||
12. | Availability of medical interventions covered by national health insurance | |
(available; partially available; other) | ||
NBS participants with positive screening tests should receive appropriate interventions within the national health insurance system. | ||
13. | Scientific evidence of the benefits of early intervention | |
(yes; some; no) | ||
There should be scientific evidence that patients identified via screening tests can benefit from appropriate early intervention. | ||
Follow-up setting | 14. | Post-screening follow-up system |
(well established; partially established; not established) | ||
After the patient has been diagnosed, there should be a core hospital that has a specialist on the disease/condition within the accessible range. A system to coordinate cooperation between the local hospital that the patient visits routinely or on an emergency basis and the hospital with a specialist should be well established. | ||
15. | Availability of post-screening consultation | |
(available; partially available; not available) | ||
A system that can sufficiently explain the disease to the patients and family members who tested positive and the patient’s family (e.g., genetic counseling, brochures to explain the disease, and contacts for inquiries) should be well established. Furthermore, this system should be standardized nationwide to allow providing information fairly to all individuals identified through screening. | ||
Economic evaluation | 16. | Economic evaluation |
(scientific evidence is available; some scientific evidence is available; other) | ||
An economic evaluation of the screening program should include appropriate resources used and health outcomes simultaneously reflecting the national context. |
Characteristic | n | (%) | |
---|---|---|---|
Age | 20–29 | 18 | (12.6) |
30–39 | 19 | (13.3) | |
40–49 | 25 | (17.5) | |
50–59 | 45 | (31.5) | |
60–69 | 27 | (18.9) | |
70–79 | 3 | (2.1) | |
Over 80 years old | 2 | (1.4) | |
Missing | 4 | (2.8) | |
Sex | Male | 82 | (57.3) |
Female | 58 | (40.6) | |
Missing | 3 | (2.1) | |
With/without children | No | 46 | (32.2) |
Yes | 92 | (64.3) | |
Missing | 5 | (3.5) | |
Occupations or organization | Physician | 63 | (44.1) |
Clinical laboratory technician | 20 | (14.0) | |
Medical student | 17 | (11.9) | |
Patient advocacy group | 12 | (8.4) | |
Local government employees | 10 | (7.0) | |
Nurse | 6 | (4.2) | |
NBS-related inspection technician | 5 | (3.5) | |
Midwife | 4 | (2.8) | |
Pharmacist | 3 | (2.1) | |
Others | 1 | (0.7) | |
Missing | 2 | (1.4) | |
Clinical department | Pediatrics | 50 | (35.0) |
Obstetrics and Gynecology | 4 | (2.8) | |
Pediatric Surgery | 3 | (2.1) | |
Neonatology | 3 | (2.1) | |
Others | 5 | (3.5) | |
Missing | 78 | (54.5) | |
Academic affiliations (multiple choices allowed) | The Japanese Society for Neonatal Screening | 54 | (37.8) |
The Japan Society of Human Genetics | 39 | (27.3) | |
The Japanese Society for Pediatric Gastroenterology, Hepatology, and Nutrition | 24 | (16.8) | |
The Japanese Society for Inherited Metabolic Diseases | 21 | (14.7) | |
The Japan Society of Perinatal and Neonatal Medicine | 20 | (14.0) | |
The Japanese Society for Pediatric Endocrinology | 17 | (11.9) | |
The Japanese Society for Genetic Counseling | 16 | (11.2) | |
The Japanese Society of Child Neurology | 14 | (9.8) | |
The Japan Society for Neonatal Health and Development | 12 | (8.4) | |
The Japanese Society for Pediatric Infectious Diseases | 10 | (7.0) | |
The Japan Society of Obstetrics and Gynecology | 7 | (4.9) | |
The Japan Association of Obstetricians and Gynecologists | 5 | (3.5) | |
The Japanese Society for Immunodeficiency and Autoinflammatory Diseases | 5 | (3.5) | |
The Japan Academy of Midwifery | 2 | (1.4) | |
The Japanese Midwives Association | 2 | (1.4) | |
The Japanese Society of Genetic Nursing | 2 | (1.4) | |
Years of experience in NBS-related work or research | More than 10 years | 58 | (40.6) |
None | 32 | (22.4) | |
1–4 years | 26 | (18.2) | |
5–9 years | 11 | (7.7) | |
Missing | 16 | (11.2) |
Categories | Subcategories | Criteria | Score |
---|---|---|---|
Disease/condition | Incidence of the disease/condition | ≥1/20,000 | 10 |
≥1/50,000 but <1/20,000 | 7 | ||
≥1/100,000 but <1/50,000 | 5 | ||
≥1/200,000 but <1/100,000 | 3 | ||
<1/200,000 | 2 | ||
Onset of serious symptoms within 96 h of birth | No onset | 9 | |
≥1% but <30% | 7 | ||
≥30% but <70% | 5 | ||
≥70% or unknown | 3 | ||
Natural history of the disease/condition | Clear | 18 | |
Unclear | 5 | ||
Disease burden without treatment | High disease burden | 37 | |
Moderate disease burden | 15 | ||
Low disease burden | 6 | ||
Screening test | Screening test performance | High sensitivity and specificity | 32 |
High sensitivity but low specificity | 10 | ||
The others | 5 | ||
Availability of dried blood specimens | Yes | 29 | |
No | 8 | ||
Number of samples that can be processed | ≥200 samples/day/full-time equivalent (FTE) | 16 | |
≥100 but <200 samples/day/FTE | 9 | ||
The others | 4 | ||
Time to obtain screening test results | <1 day | 17 | |
≥1 but <2 days | 11 | ||
≥2 days | 5 | ||
Cost of screening test | <500 Japanese yen (JPY) | 12 | |
500–999 JPY | 8 | ||
1000–4999 JPY | 4 | ||
≥5000 JPY | 2 | ||
Number of diseases/conditions testable at once | ≥4 | 16 | |
2–3 | 8 | ||
1 | 4 | ||
Intervention | Availability of clinical guidelines | Available | 39 |
Partially available | 19 | ||
Not available | 8 | ||
Availability of medical interventions covered by national health insurance | Available | 41 | |
Partially available | 17 | ||
The others | 8 | ||
Scientific evidence for the benefits of early intervention | Yes | 104 | |
Some | 41 | ||
No | 16 | ||
Follow-up setting | Post-screening follow-up system | Well-established | 66 |
Partially established | 29 | ||
Not established | 11 | ||
Availability of post-screening consultation | Available | 60 | |
Partially available | 23 | ||
Not available | 9 | ||
Economic evaluation | None | Scientific evidence is available | 114 |
Some scientific evidence is available | 46 | ||
The others | 18 |
Disease/Condition | ||||
---|---|---|---|---|
Categories | Subcategories | Criteria | Rating Score | Full Marks |
Disease/condition | Incidence of the disease/condition | ≥1/50,000 but <1/20,000 | 7 | 10 |
Onset of serious symptoms within 96 h of birth | No onset | 9 | 9 | |
Natural history of the disease/condition | Clear | 18 | 18 | |
Disease burden without treatment | High disease burden | 37 | 37 | |
Subtotal | 71 | 74 | ||
Screening test | Screening test performance | High sensitivity and specificity | 32 | 32 |
Availability of dried blood specimens | Yes | 29 | 29 | |
Number of samples that can be processed | ≥200 samples/day/full-time equivalent (FTE) | 16 | 16 | |
Time to obtain screening test results | <1 day | 17 | 17 | |
Cost of screening test | 1000–4999 JPY | 4 | 12 | |
Number of diseases/conditions testable at once | ≥4 | 16 | 16 | |
Subtotal | 114 | 122 | ||
Intervention | Availability of clinical guidelines | Available | 39 | 39 |
Availability of medical interventions covered by national health insurance | Available | 41 | 41 | |
Scientific evidence for the benefits of early intervention | Yes | 104 | 104 | |
Subtotal | 184 | 184 | ||
Follow-up setting | Post-screening follow-up system | Well established | 66 | 66 |
Availability of post-screening consultation | Available | 60 | 60 | |
Subtotal | 126 | 126 | ||
Economic evaluation | Scientific evidence is available | 114 | 114 | |
Total score | 609 | 620 |
Disease/Condition | ||||
---|---|---|---|---|
Categories | Subcategories | Criteria | Rating Score | Full Marks |
Disease/condition | Incidence of the disease/condition | ≥1/100,000 but <1/50,000 | 5 | 10 |
Onset of serious symptoms within 96 h of birth | ≥1% but <30% | 7 | 9 | |
Natural history of the disease/condition | Clear | 18 | 18 | |
Disease burden without treatment | High disease burden | 37 | 37 | |
Subtotal | 67 | 74 | ||
Screening test | Screening test performance | High sensitivity and specificity | 32 | 32 |
Availability of dried blood specimens | Yes | 29 | 29 | |
Number of samples that can be processed | ≥200 samples/day/full-time equivalent (FTE) | 16 | 16 | |
Time to obtain screening test results | <1 day | 17 | 17 | |
Cost of screening test | 1000–4999 JPY | 4 | 12 | |
Number of diseases/conditions testable at once | ≥4 | 16 | 16 | |
Subtotal | 114 | 122 | ||
Intervention | Availability of clinical guidelines | Available | 39 | 39 |
Availability of medical interventions covered by national health insurance | Available | 41 | 41 | |
Scientific evidence for the benefits of early intervention | Yes | 104 | 104 | |
Subtotal | 184 | 184 | ||
Follow-up setting | Post-screening follow-up system | Well established | 66 | 66 |
Availability of post-screening consultation | Available | 60 | 60 | |
Subtotal | 126 | 126 | ||
Economic evaluation | Scientific evidence is available | 114 | 114 | |
Total score | 605 | 620 |
Disease/Condition | ||||
---|---|---|---|---|
Categories | Subcategories | Criteria | Rating Score | Full Marks |
Disease/condition | Incidence of the disease/condition | ≥1/20,000 | 10 | 10 |
Onset of serious symptoms within 96 h of birth | No onset | 9 | 9 | |
Natural history of the disease/condition | Clear | 18 | 18 | |
Disease burden without treatment | High disease burden | 37 | 37 | |
Subtotal | 74 | 74 | ||
Screening test | Screening test performance | High sensitivity and specificity | 32 | 32 |
Availability of dried blood specimens | Yes | 29 | 29 | |
Number of samples that can be processed | ≥200 samples/day/full-time equivalent (FTE) | 16 | 16 | |
Time to obtain screening test results | <1 day | 17 | 17 | |
Cost of screening test | <500 Japanese yen (JPY) | 12 | 12 | |
Number of diseases/conditions testable at once | 1 | 4 | 16 | |
Subtotal | 110 | 122 | ||
Intervention | Availability of clinical guidelines | Available | 39 | 39 |
Availability of medical interventions covered by national health insurance | Available | 41 | 41 | |
Scientific evidence for the benefits of early intervention | Yes | 104 | 104 | |
Subtotal | 184 | 184 | ||
Follow-up setting | Post-screening follow-up system | Well established | 66 | 66 |
Availability of post-screening consultation | Available | 60 | 60 | |
Subtotal | 126 | 126 | ||
Economic evaluation | Some scientific evidence is available | 46 | 114 | |
Total score | 540 | 620 |
Disclaimer/Publisher’s Note: The statements, opinions and data contained in all publications are solely those of the individual author(s) and contributor(s) and not of MDPI and/or the editor(s). MDPI and/or the editor(s) disclaim responsibility for any injury to people or property resulting from any ideas, methods, instructions or products referred to in the content. |
© 2023 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
Share and Cite
Konomura, K.; Hoshino, E.; Sakai, K.; Fukuda, T.; Tajima, G. Development of a Model for Quantitative Assessment of Newborn Screening in Japan Using the Analytic Hierarchy Process. Int. J. Neonatal Screen. 2023, 9, 39. https://doi.org/10.3390/ijns9030039
Konomura K, Hoshino E, Sakai K, Fukuda T, Tajima G. Development of a Model for Quantitative Assessment of Newborn Screening in Japan Using the Analytic Hierarchy Process. International Journal of Neonatal Screening. 2023; 9(3):39. https://doi.org/10.3390/ijns9030039
Chicago/Turabian StyleKonomura, Keiko, Eri Hoshino, Kotomi Sakai, Takashi Fukuda, and Go Tajima. 2023. "Development of a Model for Quantitative Assessment of Newborn Screening in Japan Using the Analytic Hierarchy Process" International Journal of Neonatal Screening 9, no. 3: 39. https://doi.org/10.3390/ijns9030039