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Newborn Blood Spot Screening.Pdf (Download) Alberta STE Report Newborn blood spot screening for galactosemia, tyrosinemia type I, homocystinuria, sickle cell anemia, sickle cell/beta-thalassemia, sickle cell/hemoglobin C disease, and severe combined immunodeficiency March 2016 INSTITUTE OF HEALTH ECONOMICS The Institute of Health Economics (IHE) is an independent, not-for-profit organization that performs research in health economics and synthesizes evidence in health technology assessment to assist health policy making and best medical practices. IHE BOARD OF DIRECTORS Chair Dr. Lorne Tyrrell – Professor & Director, Li Ka Shing Institute of Virology, University of Alberta Government and Public Authorities Dr. Carl Amrhein – Deputy Minister, Alberta Health Mr. Jason Krips – Deputy Minister, Economic Development and Trade Dr. Pamela Valentine – CEO (Interim), Alberta Innovates – Health Solutions Dr. Kathryn Todd – VP Research, Innovation & Analytics, Alberta Health Services Academia Dr. Walter Dixon – Associate VP Research, University of Alberta Dr. Jon Meddings – Dean of Medicine, University of Calgary Dr. Richard Fedorak – Dean of Medicine & Dentistry, University of Alberta Dr. Ed McCauley – VP Research, University of Calgary Dr. James Kehrer – Dean of Pharmacy & Pharmaceutical Sciences, University of Alberta Dr. Braden Manns – Svare Chair in Health Economics and Professor, Departments of Medicine and Community Health Sciences, University of Calgary Dr. Constance Smith – Chair, Department of Economics, University of Alberta Industry Ms. Lisa Marsden –VP, Cornerstone & Market Access, AstraZeneca Ms. Jennifer Chan – VP, Policy & Communications, Merck Canada Ms. Tanya Lederer – Director, External Relations, GlaxoSmithKline Inc. IHE Mr. Doug Gilpin – Chair, Audit & Finance Committee Dr. Egon Jonsson – Executive Director & CEO, Institute of Health Economics Ms. Allison Hagen – Director of Finance, Operations & Administration, Institute of Health Economics Alberta STE Report Newborn blood spot screening for galactosemia, tyrosinemia type I, homocystinuria, sickle cell anemia, sickle cell/beta-thalassemia, sickle cell/hemoglobin C disease, and severe combined immunodeficiency Alberta STE Report: Policy-driven Health Technology Assessment reports that include an analysis of the social and system demographics, technological effectiveness, and economic implications of a health technology. The reports are written under contract with the Alberta Health Technologies Decision Process and contextualized for use in Alberta. Acknowledgements The Institute of Health Economics is grateful to: • The Expert Advisory Group • The Health Technologies and Services Policy Unit, Alberta Health • The Health Protection Branch, Alberta Health • Laboratory Services, Alberta Health Services • Health Technology Assessment and Innovation, Alberta Health Services • Clinical Genetic Services, Alberta Health Services • Inherited Metabolic Disorders Clinic, Alberta Health Services • BC Children’s Hospital, British Columbia The views expressed in this report are of the Institute of Health Economics. Corresponding Author Please direct any inquiries about this report to Dr. Anderson Chuck, [email protected]. Funding This report was supported by a financial contribution from Alberta Health (AH) through the Alberta Health Technologies Decision Process, the Alberta model for health technology assessment and policy analysis. The views expressed herein do not necessarily represent the official policy of Alberta Health. Declared Competing Interest of Authors Competing interest is considered to be financial interest or non-financial interest, either direct or indirect, that would affect the research contained in this report or create a situation in which a person’s judgement could be unduly influenced by a secondary interest, such as personal advancement. The authors of this publication claim no competing interest. Suggested Citation (ICMJE or Vancouver Style) Institute of Health Economics. Newborn blood spot screening for galactosemia, tyrosinemia type I, homocystinuria, sickle cell anemia, sickle cell/beta-thalassemia, sickle cell/hemoglobin C disease, and severe combined immunodeficiency. Edmonton (AB): Institute of Health Economics; 2016. Web Address This publication is available for free download from the IHE website at http://www.ihe.ca. Reproduction, redistribution, or modification of the information for any purposes is prohibited without the express written permission of the Institute of Health Economics. Institute of Health Economics, 2016 www.ihe.ca Newborn blood spot screening for GALT, TYRI, HCY, SCD, and SCID i EXECUTIVE SUMMARY Background Existing evidence reviews on newborn blood spot screening (for example, health technology assessments, systematic reviews, literature synthesis) are outdated and/or have not assessed the long-term health consequences or health economic impact on the health system. Further, the transferability of the evidence base to the Alberta setting is uncertain, as the value in terms of both health outcomes and costs are ultimately dependent on local epidemiology, clinical practice, system capacity, and costs. Accordingly, there was a need to conduct an updated evidence assessment contextualized to the Alberta setting. There are seven conditions that are not currently primary targets for screening or secondary conditions identified via screening in Alberta that are widely represented in or being considered for screening programs in many jurisdictions across North America: galactosemia (GALT); tyrosinemia type I (TYRI); homocystinuria (HCY); sickle cell anemia (Hb SS), sickle cell/beta-thalassemia (Hb S/β-thal), and sickle cell/hemoglobin C disease (Hb SC) (hemoglobinopathies collectively referred to here as sickle cell disease [SCD]); and severe combined immunodeficiency (SCID). As such, this evidence assessment focuses on these seven conditions and the associated tests used to identify them, to assess the potential health economic impact of adding any or all of these conditions to the Alberta Newborn Metabolic Screening (NMS) Program. Alberta STE Evidence Assessment This evidence assessment was conducted under the auspices of the Alberta Health Technologies Decision Process (http://www.health.alberta.ca/initiatives/AHTDP.html). This process involves the use of appropriate evidence and information for decision-making regarding the public provision of health technologies and services. These assessments consider existing evidence and other information relevant to three areas: social and system demographics (S section), technology effects and effectiveness (T section), and economic analysis (E section). The Alberta NMS Program uses a population-based screening approach to reduce the burden of disease in the community through early detection and treatment of select treatable conditions. As such, this STE review was guided by the generally accepted principles for decision-making for the introduction of population-based screening programs outlined by the Australian Population Health Development Principal Committee’s Screening Subcommittee, in its document “Population Based Screening Framework” (Australian Framework). It is important to note that the scope of this review is to assess the impact of adding the seven aforementioned conditions to an already existing population-based screening program. There are criteria outlined in the Australian Framework which are oriented towards the requisite characteristics of a screening program; these were not considered in this review, given that evaluation of the existing screening program is outside the scope of this review. The criteria outlined in the Australian Framework that were considered in this evidence review are summarized below. According to the framework, for a condition to be included in a population- based screening program: • The condition must be an important health problem and have a recognizable latent or early symptomatic stage. Newborn blood spot screening for GALT, TYRI, HCY, SCD, and SCID ii • The test for each condition must be highly sensitive and specific, be validated and safe, have a relatively high positive and negative predictive value, and be acceptable to the target population, including important subgroups. • The treatment for each condition must be effective, available, easily accessible, and acceptable to all patients with the recognized disease or condition. • There should be clear evidence that screening and treatment leads to better outcomes than finding and treating the disease at a later stage. • Systems should be in place for evidence-based follow-up assessment of all people with a positive screen, regardless of rurality, ethnicity, socioeconomic status, or disadvantage status. • Ongoing management referral protocols must be established for individuals who have the condition detected through the screening program. • The overall benefits of screening outweigh the harm. Social and System Demographics Objective The objective of the S section of this STE report is to provide information describing the patterns of care associated with early and late diagnosis of each of the seven conditions, as well as related health outcomes. The health system capacity in Alberta and general acceptability of screening and condition diagnostic testing will also be described. Key Findings Table ES.1: Canadian jurisdictions screening for GALT, TYRI, HCY, SCD, and/or SCID (as of April 2015) SCD (Hb SS, Province GALT TYRI HCY SCID Hb S/β-thal, Hb SC) British Columbia + + + + R Alberta Under review Under review Under review Under
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