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Blanka BARTOS: SMA infants’ right to health

Are newborn screening and the reception of the treatment for SMA disease fundamental human rights?

I. Introduction

Since the 1960s, newborn screening has been around and saved lives.[1] Countries have been continuously expanding the range of screened diseases after the baby’s birth, in which SMA is the newest one. We could be optimistic and patient as health care policy and regulation always change in parallel with innovation, however, some countries need to make the first steps in order to motivate the others. Some American states have already changed their legislation to dedicate financial resources, technology, and administration system to reaching this goal. Since the latest, life-saving infusion, Zolgensma entered the market, newborn screening gained more significance. As its price hit records, it costs 2,1 million USD (ap. 700 million HUF), the majority of patients cannot afford it. Zolgensma is a life-saving treatment, so the reception of this drug is supposed to be a fundamental human right. Moreover, SMA disease has lethal versions, where these newborns cannot celebrate their 2nd birthday (without receiving Zolgensma in time). To prevent this situation and to give the best chances to discover SMA as early as possible, newborn screening for this disease should be also considered as a fundamental right to health.

II. SMA and newborn screening

Spinal muscular atrophy (SMA) is caused by a mutation or an absence of the survival motor neuron gene (SMN1). In a healthy body, it produces a protein for the function of the nerves, which control the muscles. Without SMN1 gene, the muscle becomes weaker and weaker until it atrophies. The disease becomes life-threatening when the basic life support organs such as the lungs, the heart, or the elements of the digestive system cannot function anymore. Nevertheless, the illness does not harm the patient’s mental health.[2]

SMA can affect anyone from any race or gender. It is the leading genetic cause of death among newborns in the USA. This illness affects 1 in 11,000 births, and about 1 in every 50 Americans is a genetic carrier.[3] People can find out with a genetic test whether they are a carrier or not. If they are thinking about starting a family and both of the partners are carriers, they have a 25% chance that their baby will have SMA. Unfortunately, carrier testing is available only for people with SMA history in their family.[4]

Newborn screening is the best option to discover whether the infant suffers from SMA disease. Only the US make this test routinely[5] among other genetic diseases, every other countries in the world do not have the appropriate health policy and budget for automatically implementing it. In most of the European states parents can only discover this illness with the appearance of the first symptoms, usually months after birth. Unfortunately, treatments have weaker outcomes if the SMA is discovered later.[6] When doctors cannot start in time applying medical treatments and physiotherapy, the maintenance of the muscles has worse chances. That can be the reason why most of the American states have already implied newborn screening for SMA.[7] Besides, the test is not particularly complicated to implement. They only need a few drops of blood from the newborn to take it onto a special filter paper (Guthrie Card) and then analyze it in the laboratory.

In the United States, general newborn screening is mandatory, parental consent is not required. Based on the two foundational legal power, the states have the responsibility to protect their citizens. The police power protects “the health, safety, morals, and general welfare”, the “parens patriae” (alias: parent of the nation in law) ensures the rights of children and vulnerable persons to health and well-being. The latter gives the state the right to intervene against an abusive or negligent parent to protect the child. These state privileges and responsibilities are weighed against parents’ rights to make decisions about their minor children’s welfare. The parents can accept or refuse medical treatments according to their views.[8] Even if it would be a more modern regulation when newborn screening would be an option and not an obligation,[9] the test makes no harm for the child and it can save or improve their lives, thus there is no reason to refuse it. It is in the interest of the infant, that protects their rights to health and life. Since 2018, 23 American states screen newborns against SMA – besides other genetic, endocrine, and metabolic disorders, and hearing loss, and critical congenital heart defects (CCHDs).[10] Further 13 states have already adopted the program and they seek to activate it within 2 years from 2020. Another 3 states have trials in this field.[11] In order to succeed, the Advisory Committee recommends the conditions to the Commissioner of Health, who makes his arguments at the Public Health Council, where they vote about this question.[12] According to the wish of the SMA community, all states will include the SMA test in newborn screening in the future.

III. Fundamental rights to health and life

At a European Cystic Fibrosis Society’s conference, a question was posed and remained unanswered: is newborn screening a basic human right?[13] They based this theory on that if doctors detect this genetic illness less than 2 months after birth, the child has better chances to survive. That could be the same case with SMA, just nobody asked this question at a conference yet. It is an actual topic particularly now when a modern treatment, Zolgensma is accessible and must be given before the baby’s second birthday. The facts, that the only medicine on the market which can give a chance for life has an age limit, and that its price is 2,1 million US dollars that need time to be collected, support the early discovery of this lethal illness.[14]

Having a look at it from a broader perspective, can we say that health care, whithout the patient could not live a whole life, is a fundamental human right? If yes, then providing it is a duty of the state. From a narrower perspective, is early detection of a lethal genetic disease a basic human right? After several debates and studies, we can answer “yes” to this question if four conditions are presented: 1) if the child is born in a region where the questioned disease is relatively common (at least 1:10.000 in the case of cystic fibrosis); 2) the newborn screening program exists there or can be created; 3) in case of a positive test, there is an available treatment; 4) sustained funding is available. We must answer “no” to the question above if it causes more harm than good, when the regional readiness does not exist or when there is no available funding, service, or treatment.[15] Taking into consideration that we have talked about the United States, of whom all of the four points are true, making newborn screening available for every patient would be a duty. To continue with, ensuring free access to life-saving treatment would also be its duty. Zolgensma is expensive and an average family cannot afford it, it costs 33 times more than the national per capita income in the US.[16] Why does the child’s life depend on their parents’ income? Charities and government agencies funded the research of this innovative gene therapy to benefit from it, to save lives. If newborn screening reveals that the child suffers from SMA but the parents do not have the source to buy it, what is the point of the test? Patients suffering from other types of SMA do not need gene therapy to survive, nonetheless, it is beneficial for them too to discover their illness at birth to be able to start the necessary treatments. However, half of the SMA patients are suffering from the most serious form which does not give them a chance for life after 2 years without gene therapy.[17] Zolgensma offers the best results besides Spinraza, another available and expensive gene therapy which is needed to be given regularly throughout the life of the patient.[18]

IV. The right to health in international treaties

Although the right to health is a social right, it is difficult to determine what it covers. It can be the access to health services, necessary resources to achieve health, medical self-determination, the ability to resist conditions or policies that endanger health, transparency and health information, informed consent, the right to decision-making, and accountability for health programs and policies.[19] The right to health must be specified to make it enforceable. However, it cannot be determined without other human rights, as declared in Point 2 in General Comment No. 14 to Article 12 of The International Covenant on Economic, Social and Cultural Rights (ICESR) (1976): …the right to health is closely related to and dependent upon the realization of other human rights, as contained in the International Bill of Rights, including the rights to food, housing, work, education, human dignity, life, non-discrimination, equality, the prohibition against torture, privacy, access to information, and the freedoms of association, assembly and movement. These and other rights and freedoms address integral components of the right to health.[20]

Article 25 of the Universal Declaration of Human Rights (UDHR) (1948) states that „everyone has the right to a standard of living adequate for the health and well-being of himself and his family,” including medical care. Article 27 adds that everyone has the right to “share in scientific advancement and its benefits”. The UNESCO Universal Declaration on Bioethics and Human Rights (2005) also asserts that “the enjoyment of the highest attainable standard of health” is a fundamental human right, and that “access to quality health care and essential medicines” is required “because health is essential to life itself and must be considered to be a social and human good.” Furthermore, “the promotion of health and social development for their people is a central purpose of governments that all sectors of society share”. The ICESR recognizes the right to the “highest attainable standard” of health with specific provisions for the reduction of infant mortality and the prevention, treatment, and control of disease declared in Article 12. According to these declarations, Zolgensma must be given to every sick infant as the reception is their basic human right to life.

Article 24 (2) of the Charter of fundamental rights of the European Union protects the rights of the child. The child’s best interest, protection, and well-being must be a primary consideration when either public authorities or private institutions take action. The Convention on the Rights of the Child[21] also supports this argument, adding in Article 24 that children should enjoy the highest attainable standard of health. State parties should take appropriate measures to diminish child mortality and to combat disease with the application of readily available technology.

The World Health Organization publishes every two years a list of essential medicines that contribute to basic health care and support universal access to such treatments.[22] The list of essential drugs for children has a separate document. Among the aims of the WHO, they set out the improvement of access to essential medicines and the prevention of non-communicable diseases.[23] They support the research and development of new health projects and working to remove barriers to health services. In this way, they could urge the development of newborn screening, and negotiate the price of life-saving drugs. SMA is a genetic disease, not infectious, so its prevention is assumed to be amongst the WHO goals. Furthermore, its treatment, Zolgensma, is an essential medicine, without the patient suffering in a serious SMA-category could not survive. However, we cannot find it on the essential medicine list.

V. Summary

Prevention should always come first before treatment. It would be beneficial for the state as they would have less material expenditure for life aids, hospitalization, therapies, and medication for the patients. Public policy always needs time to catch up with technology, even when the standard of care is clear. In the case of newborn screening, this standard is getting more and more developed, having a look for example at the latest treatment for SMA disease, Zolgensma. The medical sector can not only precisely determine the illness, but they can also cure it. So, it is already two steps for the legislation: to diagnose and to medicate, which is not that easy to handle.

The universal rights impose three obligations on states: Firstly, states must respect this right. Second, states must protect the right to health, for example by taking measures to prevent intervention. Furthermore, states must facilitate and promote them.[24] SMA is a common genetic disease, which can be lethal. With newborn screening, the illness can be discovered easily the earliest as possible in order to start the necessary treatments. The latest medicine can offer a whole life to the patient, however, it is the most expensive in the world, for the moment. To let newborns enjoy their fundamental rights, newborn screening should be made automatically. As states already do it for other diseases, it would not be a big reform in the public health sector. At last but not least, life-saving gene therapy should be offered by the state to the patients to ensure their basic human rights to life. These conclusions are based on charters of several international treaties and targets of world organizations. Countries would only need to reorganize their budget for reaching these goals.

[1] Caggana, M., Jones, E. A., Shahied, S. I., Tanksley, S., Hermerath, C. A., & Lubin, I. M. (2013), Newborn screening: from Guthrie to whole genome sequencing. Public health reports (Washington, D.C.: 1974), 128 Suppl 2(Suppl 2), 14–19. [2] About SMA, Cure SMA [3] About SMA, SMA Foundation [4]Testing & Diagnosis, Cure SMA [5] 18 States in US Screening Newborns for SMA as Efforts Continue for More, MDA Says, SMA News Today [6] See: Testing and Diagnosis, Cure SMA [7] Centers for Disease Control and Prevention, Newborn Screening Portal [8] US Constitution, 14th Amendment [9]CoE additional Protocol, art. 10 [10] Centers for Disease Control and Prevention, Newborn Screening Portal [11] Newborn Screening Programs, Cure SMA State Fact Sheets, Cure SMA [12] SMA State Fact Sheet, Massachusetts [13] Philip M. Farrell, Is newborn screening for cystic fibrosis a basic human right?, Journal of Cystic Fibrosis, Volume 7, Issue 3, May 2008, Pages 262-265, [14]Zolgensma, Cure SMA,is%20a%20one%2Dtime%20treatment [15] Philip M. Farrell, Is newborn screening for cystic fibrosis a basic human right? [16] GNI per capita, Atlas method. World Bank [17]Types of Spinal Muscular Atrophy, WebMD [18] Spinraza [19] Alison Brysk., Human Rights and Private Wrongs: Constructing Global Civil Society (Global Horizons) Routledge. 2004, 1 [20] CESCR: General Comment No. 14, “Substantive Issues Arising in The Implementation of the International Covenant on Economic, Social and Cultural Rights: The right to the highest attainable standard of health. 2000 [21] Article 24 (1), (2) a) b) c) Convention on the Rights of the Child, 1990 [22] World Health Organization: WHO Model Lists of Essential Medicine. 2009, (6/23/2009), [23] What we do, WHO [24] Lawrence O. Gostin The human right to health: a right to the “highest attainable standard of health”. Hastings Cent Rep. 2001, 31 (2): 29-30. 10.2307/3528498.

Blanka BARTOS: I received her law degree (Bachelor, Master 1, 2) in 2017 at the University of Szeged, Hungary. I also obtained an LL.M. at the University of Toledo (USA) in American legal expert training and Panthéon-Assas University in Paris, France, in French, European and international business law. Currently,She is a Ph.D. candidate at the University of Aix-Marseille.

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