Newborn Screening Issues
The Public Health Aspect
-Dr. Helmut Brand Msc, MFPHM
Public Health Genetics is like Mr Tur Tur, the phantom giant:
the further you get away from him, the bigger he looks,
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
“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.
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 ?
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
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
Why is this all a problem?
• „Mild cases“, natural history not known
• „Cut offs“ levels vary
• False positives
• Follow up problems
• ...
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.
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
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?
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
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?
The Question to Public Health
- Should it be available in general?
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
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.
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.
Assessment
• Monitoring of „Guthrie-Screening“
• Monitoring „New Technologies“
• Impact Assessment of „New
Technologies“
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
Assurance I
1. Should the Service be run by the
State?
- Is it an „essential public health
function“?
- New public management
2. Coverage
Assurance II
3. Tracking
- who is in charge?
4. Equal access
- how to avoid inequalities?
5. Cohort to monitor outcome
Pressure-Groups
www.savebabies.com
Pro/Cons
Meaningful Test?
Consequences in Germany
• 8 Labs now use Ms-MS in Germany
• Implementation by „Market Forces“
• Reduction of the number of screening
centers
Results in NRW
• PPP = Public Private Partnership
• 170.746 Tests in 2002 in 2 private labs
• 72 conventional plus 66 tandem cases found
• Birth Cohort Study run by the state of NRW
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
