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High-throughput whole-genome sequencing (WGS) is bringing new opportunities in the diagnosis of rare diseases. It will more frequently lead to a primary diagnosis (aim of the genetic consultation), but it may also lead to the discovery of mutations not related to the patient's disease. These findings are called "incidental findings" (IF) and may give rise to preventive or curative interventions in a personalised medicine approach.
The question of proposing to patients access to all or part of these findings is a matter of debate in France and elsewhere. This question has given rise to new challenges and new needs that professionals must respond to by implementing appropriate management and new skills. It raises specific ethical issues, which require precise understanding of the expectations and experiences of patients. Patients' diagnostic trajectories must also meet criteria for efficacy and financial and organisational sustainability for the healthcare establishments and, for the healthcare system. Our project aims to assess the expectations of patients/parents with regard to this opportunity, and to determine how information should be provided to patients and how they should be accompanied to ensure efficient and appropriate management.
interviews with a psychologist
CHU Dijon Bourgogne
Not yet recruiting
Centre Hospitalier Universitaire Dijon
Published on BioPortfolio: 2017-09-21T02:23:22-0400
Disorders of growth, puberty and sex development can have genetic causes. The exome analysis could detect new mutations responsible for these disorders and the frequency of these mutations...
Rationale : Persons with epilepsy have a greater risk of incurring accidental injury and a higher mortality risk than the general population. The main objective of the study is to underst...
Background Eating disorders rank among the ten leading causes of disability among young women, and anorexia nervosa has the highest mortality rate of all mental disorders. Follow-up studie...
Type 1 diabetes is associated with a significant increase in mortality, cardiovascular disease, injuries on eyes and kidneys. These risks are largely dependent on glycemic control. Multipl...
This research study is the continuation of a study started more than 20 years ago. The study was designed to explore the effect that depressed parents have on their children and to better...
Hematopoietic stem cell transplantation (HSCT) is an established treatment for severe disorders of the pediatric hematopoietic system. However, there is a need for supportive interventions due to phys...
To evaluate, in a sample of patients with disorders of sex development (DSD), data related to the age at referral and their correlation with the initial complaints, gender at referral, and final gende...
Incorporating online tools in clinical practice could help improve routine assessments of personality disorders and their co-occurring clinical disorders. TeleScreen, a Web-based self-report questionn...
Diagnosis of non-chromosomal type disorders of sex development (DSD) has long been challenging. There is still no research on overview of a large Chinese DSD cohort.
To evaluate demographic, financial, and support predictors of distress for parents of young children with Disorders of Sex Development (DSD) including atypical genital development, and to characterize...
Conversations with an individual or individuals held in order to obtain information about their background and other personal biographical data, their attitudes and opinions, etc. It includes school admission or job interviews.
Disorders in which there is a delay in development based on that expected for a given age level or stage of development. These impairments or disabilities originate before age 18, may be expected to continue indefinitely, and constitute a substantial impairment. Biological and nonbiological factors are involved in these disorders. (From American Psychiatric Glossary, 6th ed)
Severe distortions in the development of many basic psychological functions that are not normal for any stage in development. These distortions are manifested in sustained social impairment, speech abnormalities, and peculiar motor movements.
Congenital conditions in individuals with a female karyotype, in which the development of the gonadal or anatomical sex is atypical.
Congenital conditions in individuals with a male karyotype, in which the development of the gonadal or anatomical sex is atypical.
Bioinformatics is the application of computer software and hardware to the management of biological data to create useful information. Computers are used to gather, store, analyze and integrate biological and genetic information which can then be applied...
DNA sequencing is the process of determining the precise order of nucleotides within a DNA molecule. During DNA sequencing, the bases of a small fragment of DNA are sequentially identified from signals emitted as each fragment is re-synthesized from a ...