Over the last years, the storing of biological materials from children for research purposes in biobanks has become the subject of an intense debate in the scientific and ethical communities on a global level. Paediatric biobanks are an important resource for the development of translational research. At the same time, paediatric biobanks are ethically 'sensitive' due to the unique issues they raise. In this study, we explore opinions, feelings and attitudes of parents towards the specimen donation of their sick children to a hypothetical biobank. According to a qualitative methodology based on focus groups, we analysed parents' views, perceptions and inclinations towards typical ethical, legal and social aspects of paediatric biobanks such as proxy consent, minor assent, privacy protection and return of results. Our study confirms the need for specific policies dedicated to paediatric biobanks by highlighting how the nature of the disease affecting children may influence the parents' opinions and decisions towards the enrolment of their children in biobank-based research studies.
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http://dx.doi.org/10.1159/000362091 | DOI Listing |
BMC Public Health
January 2025
Murdoch Children's Research Institute, 50 Flemington Road, Parkville, VIC, 3052, Australia.
Background: In a world confronted with new and connected challenges, novel strategies are needed to help children and adults achieve their full potential, to predict, prevent and treat disease, and to achieve equity in services and outcomes. Australia's Generation Victoria (GenV) cohorts are designed for multi-pronged discovery (what could improve outcomes?) and intervention research (what actually works, how much and for whom?). Here, we describe the key features of its protocol.
View Article and Find Full Text PDFHum Reprod
January 2025
Clinical Experimental Center, Jiangmen Engineering Technology Research Center of Clinical Biobank and Translational Research, Jiangmen Central Hospital, Jiangmen, China.
Study Question: What is the prevalence and trend of infertility among individuals of childbearing age at global, regional, and national levels by sex and socio-demographic index (SDI) across 21 regions and 204 countries and territories?
Summary Answer: Our findings reveal a growing prevalence of infertility among individuals aged 15-49 years worldwide from 1990 to 2021, with an expected continued increase through 2040.
What Is Known Already: Infertility is a persistent global reproductive health issue, leading to significant societal and health consequences. No study has specifically described the current prevalence of infertility, its secular trend, or the variations between regions or countries with different SDI levels.
Mov Disord Clin Pract
January 2025
Department of Neurology, All India Institute of Medical Sciences, New Delhi, India.
Background: Genomic variations associated with dystonia in Asian Indians remain largely unknown.
Objectives: To identify genomic alterations associated with dystonia in the Asian Indian population using next generation sequencing approaches.
Methods: From September 2018 to December 2023, we enrolled 745 individuals including probands with dystonia and family members, in the Indian Movement Disorder Registry and Biobank.
BMC Pregnancy Childbirth
January 2025
Collection Biologique de L'Hôpital de La Mère Et de L'Enfant CB-HME (Mother and Child Biobank), University Hospital Center, 8 Avenue Dominique Larrey, Limoges, France.
Background: Maternal agonistic autoantibodies against the angiotensin II type 1 receptor (AT1-AAs) have been implicated in the pathophysiology of preeclampsia, but their presence in their offsprings and their possible neonatal effects have not been specifically explored. This prospective study aimed to evaluate the presence of AT1-AAs and their potential clinical effects in neonates of AT1-AAs positive mothers.
Methods: Women with preeclampsia and their neonates were included.
Pharmacogenet Genomics
February 2025
Department of Anesthesiology, Vanderbilt University Medical Center.
Objectives: We aimed to classify genetic variants in RYR1 and CACNA1S associated with malignant hyperthermia using biobank genotyping data in patients exposed to triggering anesthetics without malignant hyperthermia phenotype.
Methods: We identified individuals who underwent surgery and were exposed to triggering anesthetics without malignant hyperthermia phenotype and who had RYR1 or CACNA1S genotyping data available in our biobank. We classified all variants in the cohort using a Bayesian framework of the American College of Medical Genetics and Genomics and the Association of Molecular Pathologists guidelines for variant classification and updated the posterior probabilities from this model with the new information from our biobank cohort.
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