Basics
Soon after babies are born a series of tests are done by health care professionals. Neonatal screening consist of a series of genetic tests or a routine physical examination to ensure that there are no visible malformations such as a hearing test in the first few weeks of life. The tests can tell if babies are at risk to have one of many rare but serious health problems even before there are signs of these diseases. Finding the diseases at an early stage, means that the children, in some cases, may receive treatment which can lessen or prevent harm from the diseases. Neonatal screening can provide additional information such as revealing details about the health and risks for parents and relatives of the newborns and better knowledge of the true range of the condition for doctors.
Some learned societies have created criteria to guide policies on neonatal screening tests, but at the moment in Europe, national authorities, regional authorities, and even individual hospitals are the ones choosing which diseases to screen for. The result is that neonatal screening programmes vary widely across EU countries.
Neonatal screening raises some key issues such as: what about privacy of the screening results? Is it essential to get consent from parents to do the tests? Is the fear of discrimination real? Would it be possible for the entire populations to be screened and what should be the criteria for selecting the diseases to be screened? Should diseases with no treatment be screened for?
Info cards
80% of rare diseases have genetic origins. They can be inherited or developed from a spontaneous gene mutation or from a chromosomal abnormality. They concern between 3% and 4% of all births.
It is mostly done with a heel prick blood sample in babies soon after birth (number of days vary among countries) to identify life-threatening genetic illnesses.
They are a national, regional or local competency and vary among EU countries. They can be influenced by international criteria, budget and other practical factors.
A test done on the DNA to detect early or exclude a genetic disease which may or may not be transmittable to future generations.
In many EU countries 80% of newborn babies are having screening for a number of diseases. In a number of Eastern European countries the coverage is lagging behind, e.g. in Romania and in Turkey.
In many European countries there is no, or only a partly defined national programme, but instead individual screening centres determine what list of conditions they will screen for.
The newborn’s eyes are examined for conditions such as cataract, the heart for heart defect, the hips for developmental dysplasia and the testes for cryptorchidis.
Several international measures control the use of genetic testing. But these are neither binding national governments, nor make it unlawful in some EU countries for employers to require employees to reveal genetic information
Given the relatively common genetic background of most EU populations and similar health care systems, neonatal screenings for the same diseases could result into a very important preventive health measure.
In the last decade the introduction of tandem mass spectrometry (neonatal screening for many diseases at once) has made screening more cost-effective for a group of genetic diseases.
It is a coordinated system consisting of education, screening, follow-up, diagnosis, treatment, management, and programme evaluation.
Early diagnostics of rare diseases if recognised early after birth with proper genetic counseling and eventual prenatal diagnostics in affected families is a very effective preventive programme.
Phenylketonuria — a disease causing irreversible mental retardation if left untreated—can be controlled by a restricted diet. It appears in 1 out of 15.000 births, in some EU countries even more frequently.
A screening method must be both sensitive—it should identify all or almost all cases of disease—and specific—it should minimise the number of false positives.
In 2007, around 3.5 million babies in the USA were tested for maple syrup urine disease (a rare disease). Of those, 1,249 were reported as testing positive, but only 18 were confirmed with the disease after further testing. The rest were false positive. False positive results occur when a test is too sensitive.
Neonatal screening tests were originally designed to test for individual fully affected. Now test can also identify carriers (individuals who have one allele for the affected gene but do not exhibit symptoms).
CF is an incurable but manageable disease. Early diagnosis and neonatal screening, spares long diagnostics process, avoids hospital admissions and helps family planning. But screening needs follow-up research also among unaffected newborns and not all patients are detected.
Signed in the USA in 2008, GINA is an Act of Congress that prohibits discrimination on the basis of genetic information with respect to health insurance and employment and prevents insurers from denying coverage based on someone’s genetic data.
Genetic disorders are inherited. One common pattern of passing the disease is when both parents are carriers - they are not sick, but carry the mutation on one of the two genes. There is then 25% likelihood that each child will be affected.
1)The disease is an important public health problem, and is early recognisable,
2)existence of a suitable test ,screening for all births
3)existence of treatment, and an agreed policy on who should treat
4)Screening, diagnosis, and treatment should be economically balanced
In 12 EU countries, written consent is required in order to proceed with neonatal testing, in 4 countries verbal consent is sufficient. In 3 countries, there is no applied practice of asking for consent.
3 European countries have taken measures for ethnic minorities and screening. (For example, UK is using interpreters and is involving aspects of cultural differences in the training of professionals).
A study found that 1 year after the carrier detection through neonatal screening, 15% of the families were not sure whether carrier status implied health difficulties.
For several rare diseases accurate neonatal screening and diagnosis is possible, though it is not systematically taking place in all Member States (e.g cystic fybrosis case).
The Danish Council of Ethics views genetic information as special since it reveals knowledge not only about someone, but also about their relatives, and because it provides information about both individuals and population.
-More children born with the same disease;
-Inadequate family support
-Clinical worsening of the patient’s health, or death
-Loss of confidence in the healthcare system.
Confirmation of a positive newborn screening test is always necessary. Sometimes this can be done before announcing the first result to the parents.
The most common diseases screened for are phenylketonuria (a treatable disease, but if left untreated can cause mental retardation, brain damage) and congenital hypothyroidism (a hormone deficiency, that if untreated can cause growth failure and mental retardation).
In order to decide whether a new disease should be screened for, pilot studies are conducted to evaluate the screening programme before adopting as a nationwide programme.
Issue cards
Some suggest that diagnosis of a serious disease is of value in itself, if only because it prevents unnecessary additional testing; others say that to provide information that lacks clinical utility is pointless, and even cruel.
Consent for screening is typically needed in almost all European countries. But someone may say that it is as if tests are imposed on individuals since often not enough explanation is given by clinicians…
If we decide to screen for 1, 2, 5 or… 10 diseases, where do we stop? Do we test for all 6,000 to 7,000 rare diseases?
Should neonatal screening be mandatory and free of charge if early diagnosis and treatment are sure to benefit the newborn?
Some minority ethnic groups have higher frequency of a particular gene (like the Tay-Sachs disease in the Ashkenazi Jewish population). Does this create a fear of stigmatisation for these populations?
Even when there is no effective treatment for some genetic diseases detectable at birth, isn’t neonatal screening worth taking place? It can give parents genetic counselling about future pregnancies and more knowledge about their child’s disease.
What is more important: the right of an individual to know they are affected by a genetic disease or the benefit of others such as future descendants, family and society at large?
Screening can cause great anxiety. Adequate counselling and accurate information is crucial. If the resources to counsel do not exist should we proceed with screening a population?
When a population is screened for extremely rare disorders, even with a highly specific and sensitive method, it can end into very large numbers of false positives. Cut off limits specific to each test are designated to minimise too many false positives.
After a positive neonatal screening result does the doctor have the ethical obligation to tell the family members of the child that they could also be affected, with no consent needed?
Will expanded screening draw scarce resources away from other worthy public health programmes and needs?
If we were to expand screening we would need a lot of time to implement complex infrastructure to support testing, counselling, education, treatment, and follow-up, since these practices are not in place in many countries.
Some believe that to screen only for conditions for which treatment already exists is a dogma that dooms us to ignorance and unavailability of treatment because patients are not identified until they exhibit symptoms, too late for effective preventive interventions.
How about the safeguarding of privacy when it comes to neonatal screening? Think about the use of information by the police, life insurance companies, and employers.
Knowledge about the success and failures of neonatal screening programmes is constantly expanding. Shouldn’t these programmes be frequently reviewed to add, eliminate, or modify them?
When calculating the screening costs for genetic diseases we should think about the additional costs of earlier treatment of all patients and the lifetime costs of treatment for patients who would have died in the absence of screening.
As with all medical interventions, neonatal screening programmes should do more good than harm.
Screening may cause overtreatment of questionable abnormalities in cases where the disease is not well known and the treatment not well defined.
Think about the false reassurance for all the parents whose children got a false negative result; and think about all the anxiety of parents who got false positives.
Some conditions are more frequent in certain populations (like the Smith Lemli Opitz syndrome in Poland). If people move from their native country, they might miss out screening. Should neonatal screening be provisioned for their children?
When a child learns his/her genetic information early in life, it can be accommodated into their identity. When it is disclosed late, it can conflict with their self-image and be harder to accept.
Think about the implications for relatives, the absence of a cure, the potential loss of life insurance, the financial costs and the inability to ‘undo’ the knowledge.
People who reveal genetic test results to their life insurers, banks or employers may be denied life insurance or see their loans cancelled. Employers may fire or not hire someone to avoid burdening the company.
In the case of consent for neonatal genetic screenings, it’s the parents who are acting in the interests of their child. It is not the screened individual who decides, like in other screenings. This makes neonatal screening’s ethical dilemmas special.
Story cards
Policies
National health care systems can decide on providing national neonatal screening for diseases that are treatable or not and can decide on access to genetic data with no need for approval from the EU or other independent body.
National health care systems to decide for which diseases to provide neonatal screening but an independent European body will coordinate and advise on what national neonatal screening should be in place and according to which code of practice.
European legislation to ensure harmonised neonatal screening for severe, treatable, genetic diseases or when medical utility has been demonstrated. Special authorisation to be obtained from an independent European organisation for untreatable diseases. Genetic data to be protected by a national independent body.
Authorisation, monitoring, and evaluation of neonatal screening programmes on European level. An independent European organisation to record tests carried out, and to protect genetic data.
FUND is a project funded by the European Commission (