REGULATION AND SOCIETY
The introduction of genomics in the patient care pathway implies taking into account the ethical and regulatory dimensions linked to the collection, storage and processing of patients’ clinical and genomic data, and ensuring quality and safety in healthcare provision to patients. Challenges also involve the organisation of information, consultation and involvement of the relevant stakeholders in society.
The French Plan for Genomic Medicine 2025 takes full advantage of the new high-throughput sequencing technologies, which make it possible to see an individual’s entire genetic heritage at a reasonable cost. Until now, these technologies have been used mainly in research. They can now be used on a wider scale to diagnose certain diseases, and where possible to treat patients who are affected.
- Patients are free to choose
It is fundamental, as for any medical act, to ensure that the patient has fully understood the consequences of the act that will be performed – in this case the sequencing of part or all of his/her genome – and that he/she knowingly gives his/her informed consent. Furthermore, the data from these diagnostic tests are highly personal, since they are likely to provide a large amount of information on the individuals.
- Secure data
Securing data and in particular their conditions of use, is a major consideration. From a regulatory perspective, a strict framework ensures a safe and high-quality care pathway.
- Inclusion of patients in research for the benefit of everyone
The ambition of the plan is to also use the data collected in the health care setting in order to enhance research in genetics, which in turn will allow a large number of patients to receive an accurate diagnosis.
- Responsive to society
It also involves the organisation of information, the consultation and the involvement of relevant stakeholders in society. Human and social science research projects can start to conduct surveys and to collect empirical data on the points of view of different stakeholders concerned by the ethical challenges raised by high-throughput whole genome sequencing.
To ensure the confidentiality of data collected from care — provided that the patient accepts for them to be used— these data will be made anonymous or “anonymised” by applying procedures which do not allow personal identification. However, anonymity cannot be the only cornerstone of protection. Besides the most technically advanced measures of anonymisation, protection should be guaranteed by a whole series of measures, commitments, vigilance and control on access and uses.
Working group stakeholders
The “Ethics, regulation and society” working group is led by the Directorate-General for Health under the aegis of Arnaud de Guerra (DGS), and by AVIESAN, with Anne Cambon-Thomsen, director of research, CNRS, member of the European Group on Ethics in Science and New Technologies, and Christine Lemaitre, representative of the Inserm Ethics Committee. This group includes the various players concerned (lawyers, ministers, agencies, patient associations, health professional representatives, researchers and platform). The group works on different aspects: information and consent, data protection, and the societal dimension.
WHERE ARE WE?
In June 2019, information notices and consent forms – in their various forms: rare diseases, cancer; adults, minors, protected persons– were made available to the genomic platforms of the plan to be used during interviews with the first patients.
These documents were created as “draft” versions:
- Obtaining consent in genetics is organised primarily by regulation in line with the law on bioethics. Currently under examination by Parliament, it will be necessary to modify the information notices and consent forms created, once the new law has been voted in 2020.
- To ensure that these documents are fully operational and adapted to the health care setting, a consultation with professionals and patients is foreseen in the first half of 2020. Feedback will be taken into account for the new version of the documents.
The first task addressed by the working group was to provide professionals with operational documents in an ethical manner, necessary to start the first sequencing.
Indeed, two types of documents must be submitted to patients by the medical specialist before any diagnosis in the framework of the plan:
- The information notice provides, in written and accessible form, the scientific, technical, regulatory information required for the best possible understanding of the test proposed to the patient. This document is designed to accompany the patient in his/her care and should be proposed as early as possible. The physician is also available to the patient to answer any further questions.
- The consent form is signed by the patient during the consultation that precedes genetic sampling and analysis. It shows the patient’s choices in relation to a number of options subsequent to the tests, regarding amongst others information for family members (relatives) in the event of a positive result, or making the patient’s genetic data (anonymised) available for research.
The broad composition of the working group responsible for the creation of these two types of documents made it possible to take into account all the subjects identified.
The working group also sought support from the output from many forums.
The Parliamentary office for evaluating scientific and technological choices (OPESCT), professional and learned societies in genetics at national, European and international level, as well as the framework of several European projects made it possible to lay solid foundations for reflection.
The “Ethics, regulation and society” working group is led by:
- the Directorate-General for Health under the aegis of Arnaud de Guerra (DGS),
- Aviesan, with Anne Cambon-Thomsen, director of research director, CNRS, member of the European Group on Ethics in Science and New Technologies, and Christine Lemaitre, representative of the Ethics Committee, Inserm.
This group includes the various players concerned (lawyers, ministers, agencies, patient associations, health professional representatives, researchers and platform). The group works on different aspects: information and consent, data protection, and the societal dimension.