The Generative Brain

APHP Department of Genetics, Pitie-Salpetriere University Hospital, Paris (presymptomatic testing consultations for PRNP)

The clinical genetics department of the Pitie-Salpetriere hospital in Paris, part of the Paris public hospital system (AP-HP), is the place where people at risk of a genetic prion disease in the Schwartz 2019 study were seen for presymptomatic PRNP testing. It has appeared under several names: Department of Genetics and Cytogenetics in 2015, Department of Genetics in 2019, and Service de Genetique medicale on the current AP-HP page. The department built its testing route on more than 20 years of presymptomatic testing for Huntington disease, and applied the same multistep, multidisciplinary model to PRNP. It works on the same site as the national CJD reference unit and the Paris Brain Institute, whose staff co-authored the 2019 paper. This entry is information only, not medical or genetic counselling advice, and records nothing about any individual.

Key facts

  • The current AP-HP page lists a Service de Genetique medicale at Pitie-Salpetriere, 47-83 boulevard de l Hopital, Paris, focused on hereditary diseases including neurological genetic diseases; it offers diagnosis, follow-up and genetic counselling from before birth to adulthood, including presymptomatic and prenatal diagnosis for affected people and relatives. The page does not name prion or Creutzfeldt-Jakob disease.
  • The current head of service named on that page is Pr Eric Le Guern; the page also lists a rare disease reference centre and a separate clinical genetics unit.
  • In a 2015 review, Pitie-Salpetriere genetics authors (then Department of Genetics and Cytogenetics) described more than 20 years of presymptomatic Huntington disease testing in France and called Huntington the model for multistep, multidisciplinary counselling of at-risk people.
  • From 2004 to 2017, 30 people at risk of genetic prion disease consulted the department about presymptomatic PRNP testing, compared with about 950 people at risk of Huntington disease over the same years.
  • The PRNP route follows the Huntington model: a team of geneticist, psychologist, genetic counsellor, social worker and nurses; at least one psychology session during the process; written consent signed by the person and the geneticist as French law requires; and a procedure and team declared to the French Ministry of Health.
  • Testing is Sanger sequencing of the whole PRNP coding sequence on two independent blood samples, with results given at a dedicated consultation about one month later and follow-up offered.
  • The 2019 paper lists the department alongside the national CJD reference unit (Cellule nationale de reference des maladies de Creutzfeldt-Jakob, also AP-HP Pitie-Salpetriere) and the Paris Brain Institute, and it used the national prion patient file to check outcomes at aggregate level.

Timeline

  1. 2004Start of the period of PRNP testing consultations covered by the 2019 study.
  2. 2015Department authors publish a review of French Huntington presymptomatic testing guidelines, citing over 20 years of team experience.
  3. 2017Department surveys people who consulted about PRNP testing from 2004 to 2017.
  4. 2019Schwartz et al. published in Frontiers in Genetics from the department, the national CJD reference unit and the ICM.
Sources for this page