Research

Axis 3: Implementation of reflection on ethical issues and of medico-economic studies dedicated to personalized genomic medicine

Many societal issues have arisen from genomic medicine, not only for the test itself, but also with the transfer of HTS to routine use. Two pressing problems have emerged: what information do patients need (and wish to know)? How should incidental findings be managed, especially since American recommendations are not always transposable to France? What is the medico-economic interest of deploying these HTS strategies whether in rare diseases,les cancers or malignant hemopathies? The founding teams have involved teams from the region specialized in ethics and health economics and interested in this topic.

Objectives

The objectives of this axis are to analyze and understand the preferences, expectations and experiences of carer-givers and patients concerning the use of genomic data and the communication of incidental findings, as well as changes in perception; Study the economic impact ofWES and WGS in rare diseases and in oncology.

Methods

Different societal, psychological, sociological, and medico-economic studies will be conducted in parallel for both rare diseases and oncology:

• To evaluate societal preferences concerning genomic information, a national representative survey will be constructed accoding to the discrete choice method, to estimate the value of the information and societal preferences concerning HTS
• To analyze incidental findings, the FIND project (web link) will apply a quantitative and qualitative methodology to evaluate the impact of these findings on the organization of care,  as well as the value associated with communicating them to patients and to care-providers. Several appproaches will be studied: psychological, sociological and economic.
• In order to validate the clinical efficacy and the medico-economic interest of a WES strategy in oncology, the EXOPRO study (web link) started in January 2016. This study aims to investigate the feasibility and potential benefits of molecular counseling and to determine the cost of this healthcare technology.
• the medico-economic impact could be evaluated via data from registries and clinico-biological cohorts.

This axis will contribute to the national research effort on ethical and socio-economic issues related to the implementation of HTS for the diagnosis of patients with rare diseases or cancer.