Newborn Screening Issues
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- Lynne Ferguson
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1 Newborn Screening Issues - The Public Health Aspect - Dr. Helmut Brand Msc, MFPHM Institute of Public Health NRW, Bielefeld
2 Public Health Genetics is like Mr Tur Tur, the phantom giant: the further you get away from him, the bigger he looks, the nearer you get, the smaller he is. (Jim Button and Lucas, the Engine Driver, Jim Knopf und Lukas der Lokomotivführer)
3 the Task of this Presentation To demonstrate the influence of Genetics on Public Health decission making Genetics = The science of DNA (Prof. Ron Zimmern) What measures does Public Health has to deal with these questions
4 From Guthrie... Robert Guthrie ( ) The "Father of Newborn Screening."
5 ... to Tandem MS
6 Classic Selection Criteria for Neonatal Screening: One test, one disorder!! 1. Disorders in which symptoms would not be clinically present until irreversible damage occurred and for which there is an effective treatment. 2. Prevalence of the disorder in the population. 3. Simple collection method. 4. Reproducible with few false Positives/Negatives. 5. High benefit-to-cost-ratio. 6. Means to follow up of abnormal results.
7 MS-MS Supplemental Neonatal Screening I New technology changes criteria A single test can screen for > 30 inherited disorders of: - fatty acid oxidation - organic acid metabolism - amino acid metabolism If several disorders meet screening criteria, should one screen for only these or all 30?
8 MS-MS Supplemental Neonatal Screening II Example 1: When PKU screening done by MS- MS, can simultaneously screen for : MSUD, homocystinuria, tyrosinemia and 9 other amino acid disorders Example 2: When screening for MCAD can simultaneously screen for 16 other fatty acid oxidation or organic acid disorders
9 Diseases Detectable by MS-MS
10 MS-MS WILL INCREASE THE NUMBER OF DISORDERS IN THE SCREENING PANEL More follow up personnel will be needed to resolve the inevitable false positives More definitive diagnostic services will be needed Since most of these disorders are rare, metabolic treatment center resources are probably adequate
11 Why is this all a problem? Mild cases, natural history not known Cut offs levels vary False positives Follow up problems...
12 Newborn screening is not just a laboratory service; it is a system of care including follow up, definitive diagnosis, treatment, long term management and evaluation.
13 ETHICAL AND LEGAL ISSUES I Parent and public education (realistic expectations) Informed consent How to convey highly technical and highly complex information on a population basis Role of the state Above all, do no harm
14 ETHICAL AND LEGAL ISSUES II Lack of understanding of screening among the public and many physicians Unrealistic expectations from treatment Suits from missed cases and poor outcomes Do the classic screening criteria still apply?
15 Criteria for a screening programme Clinically and biochemically well-defined disorder Known incidence in populations Disorder associated with significant morbidity or mortality Effective treatment available Period before onset during which intervention improves outcome Ethical, safe, simple and robust screening test Cost-effectiveness of screening Wilson and Jungner (WHO, 1968)
16 PUBLIC HEALTH BALANCES SCIENCE AND POLITICS How much do you have to know about a disorder before you begin screening? You never know everything but you have to know something Can you be sure that all infants are offered screening, all abnormals are followed up and all affected infants receive whatever treatment exists? Does your program have consumer input? (advisory body)
17 The Question to Public Health - Should it be available in general? - Should it be part of social health insurance (GKV)?
18 Public Health Trias
19 Public Health Genetics and Assessment Assessment Core function The regular systematic collection, assembly, analysis and dissemination of information, including human genome epidemiologic information, on the health of the community.
20 Public Health Genetics and Policy Development Policy Development Core function The formulation of standards and guidelines, in collaboration with stakeholders, which promote the appropriate use of genetic information and the effectiveness, accessibility and quality of genetic tests and services.
21 Public Health Genetics and Assurance Assurance Core function Assuring constituents that genetic information is used appropriately and that genetic tests and services meet agreed-upon goals for effectiveness, accessibility and quality.
22 Assessment Monitoring of Guthrie-Screening Monitoring New Technologies Impact Assessment of New Technologies
23 Policy development 1. Is it reasonable? (Trial in Bavaria, Guidelines) 2. Does it work in the german setting? (HTA) 3. Should it be part of social health insurance? AWMF Guidelines HTA UK GMK
24 Assurance I 1. Should the Service be run by the State? - Is it an essential public health function? - New public management 2. Coverage - Federal approach in Germany
25 Assurance II 3. Tracking - who is in charge? 4. Equal access - how to avoid inequalities? 5. Cohort to monitor outcome - Role of the State?
26 Technology driven versus Social driven
27 Pressure-Groups Patient Handout
28 Pro/Cons Meaningful Test? Hidden Biobank?
29 Neuroblastoma Screening I
30 Neuroblastoma Screening II
31 Consequences in Germany 8 Labs now use Ms-MS in Germany Implementation by Market Forces Reduction of the number of screening centers
32 Results in NRW PPP = Public Private Partnership Tests in 2002 in 2 private labs 72 conventional plus 66 tandem cases found Birth Cohort Study run by the state of NRW
33 Main Results Progress in the application of genetic knowledge will be slow But: Research results will come up and will have an important influence The good news: - we still have some time - we already have instruments for Public Health decission making But: we should use this time to pepare ourselves how to deal with the new situation
34 Just expecting a baby is this still allowed?
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