Views of people with a genetic condition are crucial in deliberations on human germline gene editing (HGGE), but their perspectives are at risk to be devalued due to epistemic injustice and insufficient attention for the possible sensitivities surrounding HGGE. This study set out to explore the perspectives of people dealing with a genetic condition regarding HGGE, and the...
A lack of culturally appropriate genetic information prevents the British Pakistani community from engaging with genetic services. The GENE-Ed project focussed on the development of an educational app with and for the Pakistani community. A secondary aim was understanding how to engage the community in research. We used an iterative co-design and co-creation approach including...
National and international reports recommend that genetic counselling should be made available to parents of children living with inherited rare diseases; and to patients themselves upon turning 16–18 years old. Long wait times of up to two years for genetic counselling through Children’s Health Ireland contributed to a lack of accessibility for adult patients with inherited...
Polygenic risk scores (PRS) for different diseases are expected to become more widely available to the public in the coming decades. In addition to the investigation of the clinical relevance of polygenic risk scores, an assessment of the health behavioral impact is needed. The present study used data from a personalized medicine project that combined genomic and traditional...
The integration of genomics into nursing education has been a growing focus in recent years, as the role of genomics in healthcare continues to expand. Although the fundamental role of nurses in integrating genomic information into patient care is well-documented in the literature, studies have consistently highlighted significant gaps in nurses’ understanding of these topics...
Research on oculocutaneous albinism (OCA) in the black African population has been ongoing for 52 years (1971–2023) in the Division of Human Genetics, University of the Witwatersrand, Johannesburg, South Africa. The aim of the present study was to review all the relevant published articles and focus on selected articles with unique findings. The results showed that unique...
Hereditary conditions can pose several challenges to the individual and their family members. In addition to the symptoms of the condition itself, stigmatisation is often described by those who live with hereditary conditions as a major challenge. This study explores the stigmatisation experiences of people with inherited conditions and their families in Portugal. Seventeen semi...
Cognitive interviews are a valuable qualitative method for developing and refining survey instruments, particularly on complex topics such as genetic health. They help address misunderstandings between intended meanings and respondent interpretations, enhancing data validity and ensuring comprehensibility. This study aimed to refine a questionnaire exploring the attitudes and...
Genomic medicine (GM) was mainstreamed across the National Health Service (NHS) in England in 2018. Non-genetics healthcare professionals can now incorporate genomic testing including whole genome sequencing (WGS) into their clinical practice. This study was conducted to evaluate the preparedness of community paediatricians (CPs) for GM. Semi-structured interviews, using a topic...
Precision medicine holds promise for improving health care by tailoring disease treatment and prevention efforts to the needs of individual patients. It also raises ethical questions related to equitable distribution of the benefits of precision medicine; data management, including the terms of data ownership, sharing, and security; and, the nature and extent of community...
Stigma is defined as the perception of an undesirable attribute that leads to discrimination against individuals and groups. Stigmatisation is often triggered due to visible physical or cognitive differences. Although the literature consistently highlights the (fear of) stigmatisation as a significant concern among individuals living with hereditary conditions, no studies in...
This study is the first to explore the psychosocial experience of members of Portuguese families with late-onset variant transthyretin amyloidosis with polyneuropathy (A-ATTRv-PN). Based on a constructivist worldview, this phenomenological investigation followed a qualitative approach by conducting eight interviews and analyzing qualitative data. The main results suggest that the...
Genetic counselling emerged as a specialized healthcare discipline in the 1960s, and since then, various sub-specialties have developed globally, namely and more recently, psychiatric genetic counselling. This study provides a pioneering exploration of family physicians and psychiatrists’ perceptions regarding genetic counselling provision and its potentialities in the context of...
In 2002, in the Emilia-Romagna region of Italy, a comprehensive strategic plan was developed with the aim of improving the integration and efficiency of the genetic services. Two decades later, this report aims to explore the current functioning of the regional network, with special focus on clinical genetics in the evolving scenarios. To this aim, we analyzed the activity data...
Inborn errors of immunity (IEI) are rare heritable disorders of the immune system predisposing to atypical infections, autoimmunity, inflammation, and risk of malignancy. Adaptation is the process of incorporating stressful experiences into one’s life; these experiences may include onset of illness, receiving a diagnosis, or suffering without a diagnosis. Poor adaptation is...
The European Reference Networks (ERNs) for rare and complex diseases offer significant potential for building, maintaining and evaluating patient partnership, for which the recently developed ERN Patient Partnership Framework may serve as guidance. This scoping review aims to identify and describe relevant frameworks published in scientific literature, capturing key learning...
Despite many specialized studies on the views of the public or stakeholders who face inherited conditions that may be treatable by HGE, limited studies have focused on experts’ views towards Human Gene Editing (HGE). Therefore, in this study we conducted exploratory interviews with 14 experts (scientists, clinicians, social scientists, lawyers) in Switzerland to assess their...
Genetic counseling (GC) services have the potential to improve health outcomes, yet there are documented disparities in the use of GC services among minoritized racial/ethnic populations. Community-based participatory research (CBPR) is an approach to integrate diverse patient perspectives to improve GC services. The objective of this review was to assess the current state of...
Precision medicine (PM) stands on the brink of revolutionizing medical practice throughout the world, holding significant potential for enhancing patient outcomes. However, its practical implementation, particularly in resource-limited countries, is not without challenges. The success of PM largely hinges on the availability of extensive datasets, including genetic and genomic...
Background and Objective: Prenatal diagnosis for chromosomal anomalies is frequently used worldwide. It is important that pregnant women receive adequate counselling to make informed decisions regarding prenatal diagnosis. The aim of this study was to explore what factors influence pregnant women’s decision-making process when accepting or declining prenatal screening and...
Patients with rare genetic diseases frequently experience significant diagnostic delays. Routinely collected data in the electronic health record (EHR) may be used to help identify patients at risk of undiagnosed conditions. Long QT syndrome (LQTS) is a rare inherited cardiac condition associated with significant morbidity and premature mortality. In this study, we examine LQTS...
Recall-by-genotype (RbG) is a bottom-up approach using existing genetic data to design follow-up stratified studies. Genetic information may be partially disclosed at invitation, thus raising ethical issues which call for defined best practices for disclosure and communication in RbG approaches. Within the context of the ProtectMove sub-project of the Cooperative Health Research...