Genetic counseling for cystic fibrosis: A basic model with new challenges - 13/03/20

Doi : 10.1016/S0929-693X(20)30048-8

E. Bieth ^a,⁎ , J. Nectoux ^b, A. Girardet ^c, N. Gruchy ^d, H. Mittre ^d, M. Laurans ^e, D. Guenet ^f, J. Brouard ^g, M. Gerard ^d
^a Génétique Médicale, CHU Toulouse, France
^b Service de génétique et biologie moléculaires, CHU Paris Centre - Hôpital Cochin, Site Cochin, Paris, France
^c Génétique Moléculaire, CHU Montpellier, France
^d Génétique Médicale, CHR Clemenceau, CHU de Caen, Avenue Côte de Nacre, France
^e CRCM, CHU de Caen, Avenue Côte de Nacre, France
^f Laboratoire de Biochimie, Dépistage néonatal, CHU de Caen, Avenue Côte de Nacre, France
^g Pédiatrie, CHU de Caen, Avenue Côte de Nacre, France

^*Corresponding author. E-mail adress: [email protected] (E. Bieth).

ABSTRACT

While the goals of genetic counseling for cystic fibrosis – delivering relevant information on the risk of recurrence and nondirectional support of couples at risk in their reproductive choices – have not changed fundamentally, the practice has evolved considerably in the last decade, growing more complex to face new challenges but also proving more effective. Many factors have contributed to this evolution: technical progress in the exploration of the genome (new generation sequencing) and in reproductive medicine, but also societal developments promoting access to genetic information and the professionalization of genetic counselors in France. The prospect of expanded pre-conception screening of at-risk couples makes genetic counselors major actors not only in medical care centers, but also in modern society by contributing to genetic education among citizens.

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Keywords : Cystic fibrosis, Genetic counseling, Genetic counselor, Non-invasive prenatal diagnosis, Preimplantation genetic diagnosis, Pre-conception carrier screening