The contribution of genomics in the medicine of tomorrow, clinical applications and issues

Abstract

Association nationale des praticiens de génétique moléculaire pour la génétique moléculaire) ARS : Regional health agency (Agence régionale de santé) AVIESAN: Alliance for life and health sciences (Alliance pour les sciences de la vie et de la santé) CNIL: National commission for informatics and liberties (Commission nationale de l'informatique et des libertés) CReFIX: Center for reference, innovation, expertise and transfert DAC: data analysis collector DCRR: differential cost-result ratio DGOS: General direction of the offer care (Direction générale de l'offre de soins) INCa: National institute of cancer (Institut national du cancer)

The implementation of large-scale genomic screening or diagnostic programmes: A rapid evidence review

“…Implementation processes for programmes at a national scale Most of the genomic programmes implemented at a national scale were in the pilot phase. The articles focussed on clinical settings [16,[18][19][20][21][22][23][24][25], governmental perspectives on genomic programmes [20,21,[26][27][28][29][30][31], and, to a lesser extent, on the patients' or participants' experiences of these programmes [22,27]. The cost-effectiveness and the funding of genomic programmes were recurrent concerns in implementing sustainable systems.…”

“…It was frequently mentioned that the short-term funding of genomic programmes could hamper long-term continuity [26,29,32], and without palpable high-quality evidence, some governments could not justify creating ongoing publicly funded programmes [28]. Authors also frequently mentioned the need for an infrastructure capable of storing a large amount of confidential data and keeping up with the rapidly evolving technological landscape of genomics [16,20,21,24,27,[32][33][34][35]. Many articles also emphasised the importance of setting up an evaluation framework to obtain feedback and make changes [18,27,[36][37][38].…”

“…Genetic counselling services were also regularly mentioned as a key means to supply information to patients, families, and the general public [22,25,27,28,32,37,[39][40][41]. Some articles also highlighted that having transparent and standardised clinical pathways facilitated implementation [18,24], but this needs to be accompanied by training programmes for healthcare providers to be effective [3,20,22,25,30,37,[42][43][44]. Finally, topics such as culturally appropriate communication for patients and families, time efficiency in the delivery of services and interdisciplinarity of the staff involved were also mentioned as integral parts of programme implementation [9,20,21,23,25,27,32,34,35,41].…”

“…Advocacy actions and information campaigns improve public awareness of genetic technologies. They are likely to make access to genomics information easier for clinicians and patients and, in turn, facilitate the implementation of genomics into routine care [20]. Nevertheless, these public interventions must be culturally appropriate and accessible to be effective [24,27].…”