Atteints de retard du développement (Étude Sequapre) - Évènements de la Fondation Maladies Rares
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Accéder au séquençage des gènes: ambivalence et incertitude.
Comprendre les préférences et l'expérience de parents d'enfants
atteints de retard du développement (Étude Sequapre)
Aline Chassagne, Aurore Pélissier, Françoise Houdayer, Elodie Cretin, Elodie
Gautier, Dominique Salvi, Sarah Kidri,, Aurélie Godard, Christel Thauvin-Robinet,
Alice Masurel, Daphné Lehalle, Nolwenn Jean, Julien Thevenon, Gaetan
Lesca, Audrey Putoux, Marie-Pierre Cordier, Sophie Dupuis-Girod, Marianne Till,
Yannis Duffourd, Jean-Baptiste Riviere, Lorraine Joly, Christine Juif, Pierre Ancet,
Anne-Sophie Lapointe, Paulette Morin, Patrick Edery, Massimiliano Rossi,
Damien Sanlaville, Sophie Béjean, Christine Peyron, Laurence Faivre
Challenges and role of research
Public Health
Research Efficacy Efficiency
Ethics,
Philosophy,
Expect
-ations
Faisability Sociology,
Anthropology
Acceptability Info Health
economics
Prefe-
rences Impact
Diagnosis
Psychology
New ethical issues:
Ø Anticipation: preference, benefit/risk?
Ø Choice: access to what results? (VUS and SF)
Ø Return the result : What and how to say it?
Describe and understand the experience of families concerned
by access to the TEST in terms of preferences and representations
Pre- TEST Post-TEST
Quantitative Study Qualitative Study
Analysis of individual Analysis of representations
preferences (expectations and reactions)
Questionnaires Interviews
Parents of patients Parents of patients
candidates for diagnostic WES following WES results
10 6 14
positive uncertain negative
diagnosis result result
19 interviews 11 interviews 27 interviews
30 situations (14 boys, 16 girls)
528 questionnaires 57 interviews (29 mothers, 28
65 % mothers fathers)
Mean age of children = 7 years Mean age of children = 8
years
Methodology of quantitative study
C. Peyron, A. Pélissier, S. Béjean (Health Economics team, University of Burgundy)
§ Discrete choice methods: Choose among hypothetical
configurations of alternatives (scenarios), which are distinguishable
by the modalities (levels) of predefined dimensions (attributes)
§ 36 scenarios, in 6 blocks of 6 per respondants
Attributes Levels
None
VUS Most likely
All CHOICE N°2
TEST A TEST B
None Variants of unknown significance
Secondary The most likely None
Actionnable
findings Secondary findings
All All Possible action
Never Reanalysis in the future On my request Automatically
Reanalysis Yearly and automatic Persons choosing the type of
At my request results that should be given back Ethics committee My geneticist
Myself
Who Type of accompaniment while Meetings with other
My geneticist waiting for the results Appointment psychologist
decide? families
An ethical committee
Willingness to pay
The geneticist 1 euro 300 euros
Accompani A psychologist I choose test (tick) X
ment A nurse
With other families
Cost 1€, 300€, 600€, 900€
Results of quantitative study
§ 528 respondents in Dijon and Lyon University Hospitals between February
and December 2015 – 65% of the respondents were mothers
-0,4 -0,2 0 0,2 0,4 0,6 0,8 1
0,859 Only the most probable VUS
0,776 All VUS
0,665 Only actionable secondary findings
0,69 All secondary findings
0,72 Automatic yearly reanalysis
0,647 Reanalysis at my request
-0,276 I decide the information I want back
-0,281 An ethical committe decide which results should…
-0,224 Accompaniment with a nurse waiting for results
-0,272 Accompaniment with other families waiting for results
0,00514 Cost 1
-0,0000621 Cost 2
Post NGS- Design of the qualitative study
(A. Chassagne, E.Cretin, A. Godard and F. Houdayer)
• At what moment
•What were was WES proposed
your to you during care
expectations trajectory?
before the • By whom ?
10 6 14 test was •
positive uncertain negative Understanding
done ?
diagnosis result result Expectations the procedure
19 11 27
interviews interviews interviews
30 situations
Experience Impact
14 boys, 16 girls
57 interviews (29 mothers,
28 fathers)
Mean age of children = 8
• Will this result lead
to modifications in
• Can you tell me your child’s care?
about your result? • And in the daily life?
• How did you react ?
Results (1) Expectations from WES
• “We were really expecting a
name for what she has, that's
it. That is what motivated the
research, to push a little
further the research, to be
find the
origin
able to have an answer”
to control (mother, n°1-04).
the
uncertain
future
• “So the goal is to know...
finally to know... the name for
get a it, to project ourselves in the
name future more easily” (father,
n°1-06).
§ High expectations towards the test
7
Results (2) experience of return of the result
• Difficulty in understanding genetic relief
language
satisfaction
• the diagnosis served a purpose of
identification, of repair, of relief Disappointment combative
attitude
• mixed feelings of both relief and
worry guilt
worry
• Parents who received diagnosis
differed in their reactions in terms
of result and also according to
their gender
Results (3) the expected repercussions of the result and the
anticipation of the future follow-up
• An important step
• two thirds of parents in group 1
(positive result) said that the
result would not modify the care
• For half of the group 1 (positive
result), even when a diagnosis
was made, a feeling of
helplessness and of uncertainty
could persist. Social expectation, to give a
label, to provide
• In uncertain and no result cases, explanations and to have
the parents wished to continue easier access to social rights
the diagnostic investigations. New odyssey/uncertainty
Production de données quantitatives et qualitatives
Démarche comparative
528 Parents 57 Parents
Résultats Pré-ES Résultats post-ES Synthèse croisée
(DCE) (Entretiens)
Vivre l’incertitude
Attente ciblée Attente
(25%) prospective (75%) Avoir Poursuivre
un l’investigation
+
• DS
Résultats • Résultats
incertains incertains nom Trouver
probables probables l’origine
Sentiments
Gérer
interprétation en
• Réanalyse
l’aveni ambivalents
-
§ DS
référencer
§ Coût (U- aveugle
inversé) • Décision (Moi
• Décision ou comité)
(Moi ou
comité)Discussion § Interdisciplinary team to study the complexity of the phenomenon with mixed methods § Investigate patient experiences throughout all the process of WES § Parents favored the central role of the geneticist in the WES prescription and return of results § Parents, in general, wish to have full information, including VUS and secondary results § Contradictions between expectations and tangible impacts of the result § Modalities of information disclosure before and after the WES are particularly important
Acknowledgements
§ Département de Génétique § Laboratoire d’économie de la
CHU Dijon: A. Masurel, C. santé UB: A. Pélissier, C. Peyron,
Thauvin, D. Lehalle, N. Jean, S. Béjean, D. Salvi, S. Kidri
J. Thevenon, J-B. Riviere, L.
Joly, L. Faivre § CIC 1431 of Besançon Regional
University Hospital («Ethics and
§ Département de Génétique Medical Progress team»): A.
HCL: P. Edery, M. Rossi, D. Chassagne, E. Cretin, A.
Sanlaville, F. Houdayer Godard
§ Alliance Maladies Rares: A-S.
Lapointe, M-P. Morin
§ Funding by Fondation
Maladies Rares, FEDER, région
Bourgogne
PUBLICATONS
Chassagne et al. (2018), Eur J of Hum Genet (IF-4.580)
Peyron et al. (2018), Social Science and Med
(CNRS-1, HCERES-A)
Pélissier et al. (2016), Public Health (CNRS-3, HCERES-B)You can also read
