FHU TRANSLAD's ethical deliberations on the concerns raised by technological advancements in the field of genetics centre on two main aspects: research and interdisciplinary discussion.
Contexts and issues
While High-Throughput Exome Sequencing (ES) in France is expanding in the area of genetic diagnostics, mainly in terms of research, it is in recent times being “routinely” applied in clinical practice in several centres. This shift from research-based discovery to clinical orientation (information supplied) calls for, and is bringing about, adjustments in medical practice. It also involves questioning patients and their families, not to mention health professionals, on their expectations of this technology.
Consequently, several questions are asked which fall outside of the realm of medical knowledge, which have to do with :
Anticipation : What are the expectations of patients and the parents of children with rare diseases, regarding this test ? To what extent do these families truly understand the advantages and the risks ? What do they want to know (primary date / secondary data) ? What are their preferences ?
In situ decision-making : What options do they have for deciding, or for deliberating on the basis of information required for making a decision ? What information methods do doctors use ?
Personal experiences of sharing results : How do parents, patients and even doctors receive news of the results? At what moment can results be shared ? How is the patient/child factored in ?
Personal experiences after results are shared : How are results understood and what use are they put to weeks or months after being shared ? What effect do they have on daily life ? On the medical trajectory ?
A combined methodolody
To provide insight into these questions, research employing a mixture of methodologies, and combining a quantitative component with a qualitative one, has been set up. This is with the idea of quantifying the process while at the same time attempting an in-depth analysis of the experience of those involved (patient, caregiver, family and friends).
The SEQUAPRE study, funded by the Rare Diseases Foundation, was conducted by the Dijon and Lyon Reference Centres for Developmental Disorders and Malformative Syndromes in 2015-2016. The purpose of this research was to gain an understanding of the preferences and experiences of patients, families and health professionals in relation to technological innovations and to gauge related psycho-social, economic and ethical challenges. In the first component dealing with health economics, the preferences of parents with a child suffering from a rare disease were compiled through questionnaires (see section on “health economics plan”); the second component was based on an analysis of statements made by parents and geneticists, compiled from interviews.
The FIND study, funded by the Ministry of Higher Education and Research, a Research Programme on Performance in the Healthcare System (PREPS), commenced in July 2017. This research analyses the Expectations and Personal Experiences of patients when exome sequencing is used with secondary data research. This is a joint research effort by 3 genetics departments (Dijon, Lyon, Paris), combining a qualitative component (observation of medical consultations and interviews with follow-up of families over a 12-month period) with a quantitative component that includes questionnaire hand-outs and standardised scales (quality of life and depression). Secondary data can be put into in 3 broad categories (data related to a late-reported pathology, data related to a parental project and data pertaining to the prescription of a drug or anticipated risks from future treatment). At present, there is no consensus among professionals working in the field of genetics as to whether or not to disclose secondary data to patients if they request them.
FHU TRANSLAD has established collaborative links with Bourgogne/Franche-Comté Discussion Platform on Ethics, headed by Prof. Régis Aubry, with a view to :
- opening up a regional interdisciplinary discussion through the EREBFC network,
- making these questions the subject of public debate,
- linking up with other Regional Discussion Platforms on Ethics (ERERI) and the National Consultative Committee on Ethics (CCNE).
>> To find out more about the task of EREBFC, go to : http://www.erebfc.fr/
>> To view CCNE announcement 124 « Ethical discussion on the development of genetic tests linked to very high-throughput sequencing of human DNA »
FHU TRANSLAD has established collaborative links with the Besançon Laboratory of Sociology and Anthropology (LASA-UBFC), headed by Virginie Vinel, in collaboration with Pascal Ducournau, with a view to :
- examining the norms in the decisional process
- questioning the practices relating to the body
- encouraging sociology students to ponder issues concerning changes in genetic practices
>> To find out more about LASA, go to : http://lasa.univ-fcomte.fr/