A5062323559- BRCA gene mutations in cancer
- Genomics and Rare Diseases
- Family Support in Illness
- Ethics in Clinical Research
- Ethics and Legal Issues in Pediatric Healthcare
- Prenatal Screening and Diagnostics
- Biomedical Ethics and Regulation
- Genetic Neurodegenerative Diseases
- Childhood Cancer Survivors' Quality of Life
- DNA Repair Mechanisms
- Health, Nursing, Elderly Care
- Autism Spectrum Disorder Research
- Health Literacy and Information Accessibility
- CRISPR and Genetic Engineering
- Youth, Drugs, and Violence
- Patient Dignity and Privacy
- Amyloidosis: Diagnosis, Treatment, Outcomes
- Genetics and Neurodevelopmental Disorders
- Reproductive Biology and Fertility
- Patient-Provider Communication in Healthcare
- Parkinson's Disease Mechanisms and Treatments
- Reproductive Health and Technologies
- Intergenerational Family Dynamics and Caregiving
- Autoimmune Neurological Disorders and Treatments
- Resilience and Mental Health
i3S - Instituto de Investigação e Inovação em Saúde, Universidade do Porto
2016-2025
Universidade do Porto
2013-2025
Institut de Biologie Moléculaire et Cellulaire
2024-2025
Administração Regional de Saúde de Lisboa e Vale do Tejo
2024
University of Aveiro
2010-2023
Medigene (Germany)
2022
Centro de Genética Clínica
2013-2022
Instituto de Biologia Molecular e Celular
2019-2022
San Antonio College
2020
Centre for Health Technology and Services Research
2015
If genome sequencing is performed in health care, theory the opportunity arises to take a further look at data: opportunistic genomic screening (OGS). The European Society of Human Genetics (ESHG) 2013 recommended that analysis should be restricted original problem least for time being. Other organizations have argued 'actionable' genetic variants or could reported (including American College Medical and Genomics, French Predictive Personalized Medicine, Genomics England). They argue used...
Analyzing genomic data across populations is central to understanding the role of genetic factors in health and disease. Successful sharing relies on public support, which requires attention whether people around world are willing donate their that then subsequently shared with others for research. However, studies such perceptions geographically limited do not enable comparison. This paper presents results from a very large survey attitudes toward sharing. Data 36,268 individuals 22...
Sudden cardiac death (SCD) accounts for 10–20% of total mortality, i.e., one in five individuals will eventually die suddenly. Given the substantial genetic component SCD younger cases, postmortem testing may be particularly useful elucidating etiological factors cause this subset. The identification genes responsible inherited diseases have led to organization cardiogenetic consultations many countries worldwide. Expert recommendations are available, emphasizing importance and appropriate...
Technological advances have increased the availability of genomic data in research and clinic. If, over time, interpretation significance changes, or new information becomes available, question arises as to whether recontacting patient and/or family is indicated. The Public Professional Policy Committee European Society Human Genetics (ESHG), together with groups from UK Netherlands, developed recommendations on which, after public consultation, been endorsed by ESHG Board. In clinical...
Polygenic risk score analyses on embryos (PGT-P) are being marketed by some private testing companies to parents using in vitro fertilisation as useful selecting the that carry least of disease later life. It appears at one child has been born after such a procedure. But utility PRS this respect is severely limited, and date, no clinical research performed assess its diagnostic effectiveness embryos. Patients need be properly informed limitations use PRSs, societal debate, focused what would...
Abstract Background Public trust is central to the collection of genomic and health data sustainability research. To merit trust, those involved in collecting sharing need demonstrate they are trustworthy. However, it unclear what measures most likely this. Methods We analyse ‘Your DNA, Your Say’ online survey public perspectives on including responses from 36,268 individuals across 22 low-, middle- high-income countries, gathered 15 languages. examine how participants perceived relative...
Rapid advances in microarray and sequencing technologies are making genotyping genome more affordable readily available. There is an expectation that genomic improve personalized diagnosis drug therapy. Concurrently, provision of direct-to-consumer genetic testing by commercial providers has enabled individuals' direct access to their data. The expanded availability data perceived as influencing the relationship between various parties involved including healthcare professionals,...
This paper explores the health information-seeking practices of healthy young adults and how they assess rank sources information through a qualitative study. The findings show that participants (a) are strongly committed to searching for about lifestyle, especially via Internet; (b) healthcare professionals were perceived as most reliable source advice; (c) online information, although frequently accessed experienced empowering, is seen potentially unreliable source. Findings evidence...
Genetic information is a family affair. With the expansion of genomic technologies, many new causal genes and variants have been established potential for molecular diagnoses increased, with implications not only patients but also their relatives. The need genetic counseling intrafamilial circulation on risks grew accordingly. Also, amount and, particularly, complexity to convey multiplied. Sharing about members, however, has never an easy matter often becomes source personal familial...
This paper describes a psycho-educational multi-family discussion group intervention for cancer patients and their families (proFamilies) which was implemented evaluated at the IPOFG - CROC (Portuguese Cancer Institute, Regional Centre of Coimbra). It is brief highly structured programme involves educational support components based on groups, including non-patient family members. Five groups were established, involving 19 families, total 57 people. The focuses practical aspects...
This paper presents the perspectives of healthcare professionals regarding their roles and responsibilities in supporting patients with disclosure genetic risk to families. The study involved eight focus groups two individual interviews 34 working medical genetics services across Portugal. data were analyzed thematically, resulting three primary themes: i) informing about relatives; ii) ensuring patient confidentiality; iii) encouraging family communication. Participants believed it is...
<ns4:p>An international workshop was held in Leuven, Belgium, on June 19–20, 2023, to discuss the communication of genetic risk information within families context personalized prevention. Organized as part Horizon Europe project PROPHET (PeRsOnalised Prevention roadmap for future HEalThcare Europe), event gathered interdisciplinary stakeholders explore benefits and challenges various policy approaches returning test results with implications family members. Five key themes emerged from...
Abstract Stigma is defined as the perception of an undesirable attribute that leads to discrimination against individuals and groups. Stigmatisation often triggered due visible physical or cognitive differences. Although literature consistently highlights (fear of) stigmatisation a significant concern among living with hereditary conditions, no studies in Portugal have specifically provided evidence on this issue. This study aims address gap by examining experiences impact stigma families...
Genetic and genomic testing often have implications not only for the individual tested but also their genetic relatives. This study aims to characterize public attitudes toward familial disclosure of risks. An online survey was completed by a sample Portuguese general population (n = 1034), assessing preferences testing, receipt risk information, sharing such information with family members. Results reveal strong preference among respondents receiving on risks undergoing testing. There ample...
This article aims to explore, through the narratives of older adults, effects art therapy on their health. It is a qualitative and interventionist study, at intersection research outreach, derived from broader project approved by an Ethics Committee. The study was conducted over 12 months, starting in September 2022, Interdisciplinary Health Care Center, involving seven women with average age 70, all whom were coping chronic illness who consented participate study. Data collection tools...
Introduction: The national protocol of genetic counselling and pre-symptomatic testing for late-onset neurological diseases began in Portugal 1995. Initially, it was accessible only to adults at-risk Machado-Joseph disease, but later extended other hereditary ataxias, Huntington’s disease familial amyloid polyneuropathy caused by Val30Met mutation at the transthyretin gene. aim this study describe profile population seeking testing, while also reflecting on experience conducting...
Portugal is one of the European countries where genetic counseling emerging as an independent clinical and scientific field, paralleling international expansion this profession. Important steps have been consistently made towards establishing safe ethical counseling, delivered by adequately trained professionals. In 1998, Clinical Genetics was recognized in a medical specialty. Eleven years later, first generation Portuguese (non MD) counselors started master level training programme at...