Owing to falling costs, faster analyses and the advent of direct-to-consumer genetic testing via the internet, more and more people now have access to genetic diagnosis. In addition, it is becoming ever easier to obtain comprehensive genetic information about an individual or group of individuals, to the extent even of complete genome sequencing. In the case of an unborn child, genetic diagnosis without the iatrogenic risk of miscarriage is possible by means of tests on the mother’s blood.
Findings of differing significance are derived from the large volume of genetic data by a variety of evaluations. Some of these are highly valuable for healthcare purposes, others present disturbing information on untreatable conditions, while the relevance of still others is unclear. The risk of misinterpretation and misunderstanding is substantial if genetic diagnosis is not offered and conducted at a high level of quality and with due allowance also for non-genetic factors.
In this situation, the Ethics Council suggests various measures for the protection of self-determination and health and for the preservation of fairness and solidarity in both the healthcare system and society at large.
In 23 recommendations on genetic diagnosis in general, the German Ethics Council calls, firstly, for improvements in the provision of information to the public and in the training, advanced training and continuing training of healthcare professionals in relation to the available genetic tests, their importance and the significance of their results.
Secondly, the Council recommends a number of amendments to the Genetic Diagnosis Act in order to guarantee high standards of explanation and counselling in the light of recent developments. In this regard it addresses matters such as excessive information and secondary findings, information to family members, and the interests of people who lack the capacity to give consent. In particular, the Council’s majority recommendation is that in future medical explanation and counselling should be mandatory even in the case of genetic tests conducted for non-medical purposes, as such tests too may yield medically relevant results.
Thirdly, to mitigate the risks of direct-to-consumer genetic tests and the possible psychological burden of their results, the Ethics Council calls for improved, EU-wide measures to provide for independent consumer information and for patient and consumer protection.
In addition, the Council presents recommendations on whether and to what extent the healthcare system should cover the cost of diagnostic procedures used in the context of therapy, on technical quality assurance, on the funding of research and on research and health policy.
In nine recommendations on prenatal diagnosis, the Ethics Council first of all notes that parents who decide to go ahead with the birth of a disabled child should be highly valued in society, and calls for more relief for affected families. The Council considers it essential that the conduct of prenatal genetic tests should be conditional upon subsequent ultrasound examinations carried out for the purpose of differentiation and by independent psychosocial counselling. It further recommends that funds be allocated to concomitant socioempirical and ethical research on prenatal genetic diagnosis.
The majority of the members of the Ethics Council in addition consider that prenatal genetic diagnosis should be permitted only where an increased risk of a disorder of genetic origin exists. In their view it is essential to ensure that no genetic information concerning the unborn child that is unconnected with pathology and no details of possible carrier status that are irrelevant to the health of the child itself are disclosed.
Should genetic information on the unborn child already be available during pregnancy within the first twelve weeks of fertilization, the majority of the members of the Ethics Council further consider mandatory pre-termination counselling pursuant to Section 218a(1) of the Penal Code (the “counselling solution”) to be inadequate and call for the introduction of a more extensive system of protection.
This view is rejected by eight members of the Council, who propose in a dissenting position statement that an expectant mother should not experience obstacles in gaining access to genetic information about her unborn child if she considers this to be essential in enabling her to reach a responsible decision. For this reason, these members oppose the suggested restrictions on prenatal genetic diagnosis. In addition, they recommend an amendment to the Genetic Diagnosis Act that would in future also allow the unborn child to be examined for late-onset disorders.
In another dissenting position statement, four Council members express the view that non-invasive prenatal genetic tests should neither be supported by public funds nor be included in the list of benefits provided by the statutory and private health insurance funds, because this would contravene the obligation, entered into under the UN Convention on the Rights of Persons with Disabilities, to ensure that the rights of people with physical and mental disabilities are comprehensively protected.
The Opinion can be accessed online (in German)here. An English version will be available in due course.