Computer vision algorithms in intellectual disability
A paper explores the feasibility to design algorithms in order to detect facial gestalts in three intellectual disability syndromes and if it can facilitate the interpretation of variants of uncertain significance. The results indicate that an analysis of photo portraits can lead to the detection of previously unknown facial gestalts for novel intellectual disability syndromes.
Genet Med. 2019 Aug;21(8):1719-1725.
Factors affecting patient/caregiver guideline adherence to for Duchenne muscular dystrophy
Stemming from the idea that patient and caregiver input could make them more useful and improve the guideline adherence, a study sought to distinguish the factors which affect patient/caregiver adherence to endocrine and bone health recommendations for Duchenne muscular dystrophy. The factors highlighted are: content and format of recommendations, patient and provider characteristics, and social and financial factors. Moreover, the authors emphasise the fact that they are not limited to Duchenne muscular dystrophy.
Orphanet J Rare Dis. 2019 Aug 20;14(1):205.
Analysis of the GDPR research exemptions as regards to biobanks
A review published in the European Journal of Human Genetics analyses the research exemption of the GDPR in particular as regards to research biobanks. Indeed, for research, derogations exist which should be subject to safeguards and provided for by Member State law. However, the authors highlight how they can challenge the ethical requirements and well-established standards in biobanking that have been set forth in various research-related soft legal tools, international treaties and other legal instruments. They point out that the implementation of the derogations as provided for by the GDPR might be a threat to individual interests. Hence, they advise for a clear governance procedures and policies on the use and reuse of personal data so that biobanks can continue to conduct research while guaranteeing the protection of personal data.
Eur J Hum Genet. 2019 Aug;27(8):1159-1167
Implementing preconception care delivery
A paper published in the Journal of Rare Disorders: Diagnosis and Therapy, details how both individual family physicians and pharmacists, as well as larger primary care organisations can contribute to the implementation of preconception care delivery. Indeed, it analyses how they can reach the target population and set up a service with the objective to decrease the risks to the health of future children in the case of rare diseases. The paper concludes that community pharmacists in particular can foster preconception care delivery and prevent rare diseases wherever possible by dispensing safe medicines, promoting healthy lifestyles and offering genetic counselling before conception.
J Rare Disord Diagn Ther. (4), 2: 2.
The use of genomic technologies for paediatric rare diseases
A paper published in Cold Spring Harbor Perspectives in Medicine sought to review the use of genomic technologies, in particular genome sequencing and exome sequencing, for paediatric rare diseases as well as complexities of variant classification, and the importance of genetic counselling. The article argues that families face issues in terms of accessibility to genetic counselling and that the development of innovative methods such as online decision aids is necessary. Finally, the paper also discusses the impact of results from exome sequencing and genome sequencing and how certain organisations can support parents and their children.
Cold Spring Harb Pers 2019
Collecting views on prenatal and postnatal transplantation of fetal mesenchymal stem cells to treat Osteogenesis Imperfecta
A study published in the European Journal of Human Genetics collected stakeholder views on prenatal and postnatal transplantation of fetal mesenchymal stem cells to treat Osteogenesis Imperfecta, within the context of the Boost Brittle Bones Before Birth (BOOSTB4) clinical trial. The aim was to understand perceived benefits, concerns, ethical issues and establish protocols for support and counselling. Generally the practice gathered positive views. Concerns were focused on procedure safety, short/long-term side effects and transplantation’s effectiveness. A key issue often raised was the problem of decision-making when the treatment efficacy is not guaranteed and hence parents are vulnerable. Finally, explaining foetal mesenchymal stem cells transplantation so that all parents can understand, clear expectation setting, psychological support and time for reflection during the decision-making process are considered fundamental in order to enable parents to make informed decisions.
Eur J Hum Genet. 2019 Aug;27(8):1244-1253.
Survey on patient and family perspectives on data sharing and data protection
A paper published in the Orphanet Journal of Rare Diseases, presents the results of a survey conducted with patients with rare diseases and family members. It forms part of a continuous EURORDIS evidence-based advocacy process. The goal of the survey was to investigate “patient and family perspectives on data sharing and data protection in research and healthcare settings and develop relevant recommendations to support shaping of future data sharing initiatives in rare disease research”. The results of the survey indicated that, notwithstanding the severity of the disease and the socio-demographic profiles, patients are clearly supportive of sharing their personal data to help research advances and improve healthcare. Yet, they have specific requirements regarding the respect of their privacy, choices and information needs for the use of their data. The authors also pinpoint the necessity of the implementation of an appropriate legislation and of the multiplication of multi-stakeholder efforts for cultural and technological changes allowing for the integration of patients’ preferences.
Orphanet J Rare Dis. 2019 Jul 12;14(1):175.
Credits: EU Commission