Ethical opportunities, risks, and challenges
In the context of a genomic newborn screening (gNBS) program, many ethical issues need to be addressed, such as: What are acceptable criteria for selecting the genetic diseases we screen for? What information do parents or other legal guardians need in order to make an informed decision for their child? How should we deal with cases of unexpected incidental findings? Should we store or delete the genetic data generated in the screening process? Provided the parents consent, would it be acceptable to put this data to additional uses, such as medical research?
In order to answer these and related questions, we will consider the potential benefits and risks of a gNBS program for all stakeholders. In doing so, we will place particular emphasis on the rights and interests of newborns. Our goal is to develop best practice recommendations suitable for implementation in a possible gNBS program in Germany. These recommendations will aim at minimizing possible risks for all stakeholders in order to deliver the hoped for health benefits to newborns and their families.
Parental Duties and Rights of the Child
In Germany, despite its nearly universal uptake, newborn screening is not mandatory but requires informed consent. Naturally, newborns themselves are too young to understand and consent to the examination. For this reason, their parents (or other legal guardians) typically make an informed decision on their behalf. Nevertheless, parents are not entirely free in their decision because they are bound by a duty of care towards their child. They are obligated to act in the best interest of the child and to do what is necessary to secure its well-being and protect its rights. Yet, what actually is in the child’s best interest here? Specifically, what genetic information about the child, if any, are the parents obligated to seek out in order to fulfill their duty of care?
In many cases, it is not easy to determine with certainty what heeding a child’s best interest in a given situation would actually require. Whether a particular piece of information really is necessary to secure a child’s well-being is often quite unclear. This uncertainty about the substantial requirements of their duty of care is a reason why parents typically have great freedom in determining, to the best of their knowledge and belief, what in fact is best for their child, even if they may be wrong on occasion. Nevertheless, there are limits to this freedom, such as when their choices would objectively endanger the child or involve an unjustifiably high risk to its well-being. Another limit to parental decision-making is determined by the child’s individual rights, such as their right to an open future, their right not to know, and their right to privacy. In designing a gNBS program, these rights need to be protected.
Benefits for family and society
A gNBS program offers newborns, but potentially also their families, the important opportunity to detect diseases at an early stage and to significantly improve their course through treatment or prevention. The screening process therefore immediately and primarily benefits the child. Since genetic information is inherited, however, test results also could have health or personal benefits for parents and other relatives.
In addition, a gNBS program would also be a benefit to society by improving the general level of health among newborns. This could contribute to a net reduction in health care costs, provided it is possible to reduce overall treatment costs for the diseases identified by means of early treatment and prevention. Moreover, and given parental consent, the genomic data generated in the screening process could become an important resource for medical research into rare diseases, possibly resulting in improved treatments and therapies. For these benefits to clearly outweigh potential risks, however, the screening program must be designed with care.
Minimizing risk through sensible program design
A gNBS program also entails potential risks that should be minimized. These include, for example, that some test results may have an unclear significance. Since uncertain results could lead to potentially unnecessary follow-up examinations of the newborn, which naturally will be associated with great parental anxiety, care must be taken in the selection of target diseases to ensure that test results have high certainty and predictive power. In addition, the test results' certainty and predictive power also is important because a great number of unnecessary follow-up examinations would substantially increase heath care costs, which should be avoided in view of already strained budgets. On the other hand, a secure positive test result often also causes great anxiety, which needs to be alleviated as much as possible by means of good education materials, personalized genetic counseling, and clearly defined follow-up pathways.
Another potential risk consists in negative effects on other family members. Since genetic information is inherited, a newborn's extended family might come to learn about their own disease risks during the screening process, yet without having given their prior consent to receive such information. Since this could cause anxiety in these family members or lead to conflict within families, the pre-test counseling process should include a discussion of communication within the family before and after the test. In addition to these risks, the challenges of data protection and the possibility of genetic discrimination in hiring and insurance also need to be considered.
Dealing with uncertainty
Generally speaking, we all live with uncertainty. A gNBS program could reduce some of this uncertainty by ruling out that a child is affected by pathogenic genetic variants or by detecting genetic diseases at an early stage. There are many genetic variants for which a disease-association is scientifically well-established. Identifying these variants in the context of a gNBS program is an important step towards preventing or alleviating disease. Yet, there is a far greater number of genetic variants of uncertain significance (VUS), which also could be identified as part of the screening program. A major challenge for gNBS programs is the question of how to deal with such uncertainty.
From an ethical perspective, one reason to share information about less certain disease risks with families is the potential health or personal benefits. Arguments against it include the risk that the family will be emotionally overburdened by the uncertainty of the results and that the child, especially in the case of genetic information with unclear medical significance, may have a right not to know and a right to genetic privacy. In addition, since results may be uncertain and may lead to emotional distress, the introduction of gNBS programs carries the risk that established newborn screening programs will lose social acceptance. This should be avoided, as newborn screening is an incredibly effective way to ensure early diagnosis and treatment of diseases that otherwise might lead to grave physical or mental disabilities or even death.
Avoiding overdiagnosis and overtreatment
'Medicalization' refers to social processes in which ordinary aspects of life are reinterpreted as medical problems that seems to require treatment, even if there actually may not be a good reason for it. Often, medicalization finds expression in a tendency to privilege a health or medical perspective on life, while discounting other possible considerations. This could lead, for example, to an overestimation of what is medically feasible and its possible benefits, while possible costs and risks or patient autonomy and self-determination are not given sufficient weight. When designing a gNBS program, care must therefore be taken, for example, to avoid diagnosing 'diseases' (e.g. by identifying variants with an uncertain or insufficiently high disease-association) that may never develop symptoms and therefore do not constitute a health burden (overdiagnosis). For such diagnoses might lead to patients being subjected to regimes of treatment and prevention that are not only unnecessary but also costly, be it emotionally, financially, or medically (overtreatment).
Overdiagnosis and overtreatment are consequences of medicalization and pose a risk within a gNBS program especially when the certainty and predictive power of the test results is not sufficiently high. Therefore, careful consideration should be given to what disease risks the program is actually intended to identify. In addition, it is important to educate families and the wider community about the often uncertain meaning of genetic information and the risks associated with medicalization. In particular, this should include communicating to the public more clearly that the idea that humans are exclusively or predominantly predetermined by their genes (so-called genetic essentialism or genetic determinism) is scientifically untenable.
Team
Prof. Dr. Dr. Eva Winkler
Prof. Dr. Dr. Eva Winkler is Heisenberg Professor and Head of the Section for Translational Medical Ethics at Heidelberg University Hospital and Executive Director at the NCT Heidelberg. Her research focuses on research ethics, clinical ethics, and ethical issues in healthcare. Professor Winkler is a specialist in hematology/oncology and serves as a senior physician in the Department of Medical Oncology (UKHD). She holds a PhD in the field of cancer research from the University of Heidelberg and a PhD in medical and health care ethics from the University of Basel.
Karla Alex
Karla Alex is a research associate in the Section Translational Medical Ethics (working group of Prof. Dr. Dr. Eva Winkler at NCT Heidelberg) at Heidelberg University Hospital. She studied Philosophy/Ethics and German Studies (thesis on "Conditional Unconditionality: Ethical Aspects of Embryo Protection in Vitro"; supervised by Prof. Dr. Peter McLaughlin, Department of Philosophy, University of Heidelberg, grade 1.0). In the Section Translational Medical Ethics, she was a collaborator in the research project COMPASS_ELSI ("Comparative Assessment of Genome and Epigenome Editing in Medicine: Ethical, Legal and Social Implications"; Deutsche Forschungsgemeinschaft - project no. 409799774, 2019-23). She has been intensively involved in NEW_LIVES since the start of the project conception and grant application (coordination of the application, as well as transitional coordination of the project group). Her research focuses on applied ethics, particularly in the field of biomedical ethics and research ethics. Since October 2022, she is research fellow in the ethical subproject of the NEW_LIVES consortium.
Lars Neth
Lars Neth (M.A.) is research associate in the Section Translational Medical Ethics (working group of Prof. Dr. Dr. Eva Winkler at NCT Heidelberg) at Heidelberg University Hospital. He studied philosophy and comparative literature in Glasgow and Tübingen. He is interested in political philosophy, rights theory, the philosophy of emotions, and applied and medical ethics.
Before joining Heidelberg University Hospital and NEW_LIVES, he worked for the Medical Data Integration Center (meDIC) at the University Hospital Tübingen, part of the German Medical Informatics Initiative (MII). Since April 2024. he is scientific coordinator of the NEW_LIVES project group and research fellow in the ethical subproject.
Dr. Sascha Settegast
Dr. phil. Sascha Settegast received his PhD (summa cum laude) from the University of Trier in January 2023 for a doctoral thesis in philosophy on the theoretical foundations of contemporary virtue ethics. He completed his studies in philosophy and history at the University of Trier, followed by several years as a research assistant at the Universities of Trier and Oslo, including study and research stays in Athens, Oxford, St. Andrews, and at the University of Arizona. His work focuses on normative and applied ethics, especially on neo-Aristotelian virtue ethics, medical ethics, and the philosophy of sex.
From October 2022 until January 2024 he worked for NEW_LIVES as scientific coordinator of the project group and research fellow in the ethical subproject. Since February 2024, he is a postdoctoral research fellow at Martin-Luther-Universtität Halle-Wittenberg; he continues his work on ethical issues surrounding gNBS, especially medicalization risks, as an associate of the project.
