Figures
- FIGURE 1
Historical timeline showing the main dates of genetic discovery in heritable pulmonary hypertension. PVOD/PCH: pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis; PAH: pulmonary arterial hypertension.
- FIGURE 2
Distribution of mutations in sporadic and familial pulmonary arterial hypertension (PAH) and pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis (PVOD/PCH) patients and asymptomatic relatives in the French PAH network (adult cohort). Reproduced and modified from [49] with permission.
Tables
- TABLE 1
French guidelines for genetic counselling: key points of decree 2008-321 of April 4, 2008
The person is informed about the disease characteristics, detection techniques, genetic analysis sensitivity, prevention and treatment possibilities, genetic modality of the disease transmission and consequences for the other family members Informed written consent is mandatory Patient aged <18 years and adults under guardianship must agree with the genetic testing, whereas the informed written consent must be signed by the legal representative The genetic counselling must be performed in an individual consultation For asymptomatic high-risk relatives, the genetic counselling must be performed in an individual consultation. This presymptomatic diagnosis requires a multidisciplinary approach involving geneticists, pulmonologists, genetic counsellors, psychologists and nurses. This team is registered to the biomedical agency and follows their recommendations Genetic testing can be prescribed in asymptomatic high-risk relatives aged <18 years or in adults under guardianship, only if he/she or his/her family can benefit from preventive or curative treatments Genetic testing is performed under the responsibility of a physician allowed by Article R.1131-9, practicing in one of the institutions listed in Article R.1131-13. This physician is the only one authorised to sign the genetic results The genetic testing can only be performed in biological laboratories of public health institutions, cancer centres, biological laboratories mentioned in Article L.6211-2 and in biological laboratories of the French blood bank centres authorised by Article R.11301-14 The prescriber must inform directly the person who underwent the genetic testing in an individual consultation The person who underwent the genetic testing can refuse to know the result Reproduced from [49] with permission.
Supplementary Material
B. Girerd ERR-0037-2017_Girerd
M. Humbert ERR-0037-2017_Humbert
D. Montani ERR-0037-2017_Montani
J. Weatherald ERR-0037-2017_Weatherald
