Álvaro Mendes

• PhD
• Assistant Researcher at i3S, IBMC, University of Porto

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 hereditar...

An international workshop was held in Leuven, Belgium, on June 19–20, 2023, to discuss the communication of genetic risk information within families in the context of personalized prevention. Organized as part of the Horizon Europe project PROPHET (PeRsOnalised Prevention roadmap for the future HEalThcare in Europe), the event gathered interdiscipl...

Introduction: 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...

Background N-methyl-D-aspartate-receptor (NMDAR) encephalitis is a rare neurological autoimmune disease with severe neuropsychiatric symptoms during the acute phase. Despite good functional neurological recovery, most patients continue to experience cognitive, psychiatric, psychological, and social impairments years after the acute phase. However,...

This study describes the experiences with the stigma attached to Machado-Joseph disease (MJD) in São Miguel Island, the Azores (Portugal). We draw on semi-structured interviews with persons with MJD, family members, healthcare professionals, and direct care providers recruited through the local patient’s association (n = 28). Qualitative thematic a...

This study is the first to explore the psychosocial experience of young Portuguese adults at genetic risk for hereditary amyloid transthyretin amyloidosis with polyneuropathy (hATTR-PN). The work focuses on the developmental peculiarities of their experience with the disease. Sixteen semi-structured interviews were conducted with young adults comin...

Inherited genetic conditions are family diseases. They affect consanguineous relatives, in lineage for several generations, and impact the family dynamics. Older generations have been considered highly influential in the health management of families with inherited genetic conditions. To our knowledge, no reviews so far addressed the health-related...

This study describes the experiences with stigma attached to Machado-Joseph disease (MJD) in São Miguel Island, the Azores (Portugal). We draw on semi-structured interviews with persons with MJD, family members, healthcare professionals and direct care providers, recruited through the local patient’s association (n = 28). Qualitative thematic analy...

This study is the first to explore the psychosocial experience of young Portuguese adults at genetic risk for hereditary amyloid transthyretin amyloidosis with polyneuropathy (hATTR-PN), specifying developmental peculiarities of their experience with the disease. Sixteen semi-structured interviews were conducted with young adults coming for presymp...

Inherited genetic conditions are family diseases. They affect consanguineous relatives, in lineage for several generations, and impact the family dynamics. Older generations have been considered highly influential in the health management of families with inherited genetic conditions. To our knowledge, no reviews so far addressed the health-related...

What is this summary about? This is a plain language summary of an article originally published in European Journal of Human Genetics. Transthyretin amyloidosis (ATTR) is a disease that affects the heart and nerves of those it afflicts. One inherited form of ATTR is particularly common among people of Portuguese descent and presents primarily as a...

Generativity is a main adulthood developmental task, centred on the concern to contribute for the wellbeing of younger generations, and has been associated with improved health and wellbeing. Generativity, nevertheless, has not been explored in persons with rare late-onset neurological diseases, such as transthyretin-related familial amyloid polyne...

This scoping review sought to examine the existing literature on multifamily interventions with families dealing with inherited genetic conditions. It also seeks to identify gaps in the evidence to help guide future research and intervention development. Four databases (PubMed, Web of Sciences, Scopus and PsycInfo) were systematically searched and...

This qualitative study describes how the restrictions imposed by the COVID-19 pandemic impacted on Machado-Joseph disease (MJD) patients and their care, in the island of São Miguel (the Azores, Portugal). In-person semi-structured interviews were conducted with 11 participants, including patients, family members, healthcare professionals, and care...

Background and objectives Older generations play relevant roles in the well-being of younger generations, namely by influencing their health management. Literature regarding the influence in families affected by highly incapacitating hereditary diseases, such as Huntington's disease (HD), however, is scarce. This study addresses the intergeneration...

This qualitative study describes how the restrictions imposed by the COVID-19 pandemic impacted on Machado-Joseph disease (MJD) patients and their care, in the island of São Miguel (the Azores, Portugal). In-person semi-structured interviews were conducted with 11 participants, including patients, family members, healthcare professionals and care p...

Legacies are key components of the aging experience. Three types of legacies have been described: biological, material, and values. This paper focuses on biological legacy, centering on the experience of receiving and transmitting the genes associated with transthyretin-related amyloid familial polyneuropathy (TTR-FAP). This study adopts the self-c...

Purpose The aim of this study was to determine how attitudes toward the return of genomic research results vary internationally. Methods We analyzed the “Your DNA, Your Say” online survey of public perspectives on genomic data sharing including responses from 36,268 individuals across 22 low-, middle-, and high-income countries, and these were gat...

Os elementos mais velhos da família exercem papéis de promoção da saúde junto dos mais novos em doenças hereditárias como a paramiloidose. Contudo, escasseiam estudos que associem esses papéis ao impacto nas gerações mais novas. O objetivo deste estudo qualitativo exploratório é analisar o impacto dos papéis exercidos pelos mais velhos junto dos ma...

Polygenic risk score analyses on embryos (PGT-P) are being marketed by some private testing companies to parents using in vitro fertilisation as being useful in selecting the embryos that carry the least risk of disease in later life. It appears that at least one child has been born after such a procedure. But the utility of a PRS in this respect i...

Genetic diseases are a family matter, requiring adjustment and management from the family system, particularly when the diagnosis is recent. Literature has evidenced the importance of the role of older relatives in families dealing with some genetic diseases; however, knowledge is scarce regarding rare incurable genetic disorders, such as Huntingto...

Background Public trust is central to the collection of genomic and health data and the sustainability of genomic research. To merit trust, those involved in collecting and sharing data need to demonstrate they are trustworthy. However, it is unclear what measures are most likely to demonstrate this. Methods We analyse the ‘Your DNA, Your Say’ onl...

This paper explores ways in which genetic risk foregrounds forms of responsibility while dealing with reproduction. We analyzed individual and family semi‐structured interviews (n = 35) with people at‐risk for or affected by transthyretin‐related familial amyloid polyneuropathy (TTR‐FAP) and Machado‐Joseph disease (MJD), which are late‐onset neurol...

If genome sequencing is performed in health care, in theory the opportunity arises to take a further look at the data: opportunistic genomic screening (OGS). The European Society of Human Genetics (ESHG) in 2013 recommended that genome analysis should be restricted to the original health problem at least for the time being. Other organizations have...

Analyzing genomic data across populations is central to understanding the role of genetic factors in health and disease. Successful data sharing relies on public support, which requires attention to whether people around the world are willing to donate their data that are then subsequently shared with others for research. However, studies of such p...

There is an increased pressure to return results from research studies. In Iceland, deCODE Genetics has emphasised the importance of returning results to research participants, particularly the founder pathogenic BRCA2 variant; NM_000059.3:c.771_775del. To do so, they opened the website www.arfgerd.is. Individuals who received positive results via...

Huntington disease (HD) is a rare progressive neurological disease, with no cure, inherited in an autosomal dominant fashion, significantly impacting family relations, health and well-being. So far, no studies have reported how Portuguese families deal with information about HD, from a transgenerational perspective. This qualitative study aims to f...

Background: Involving patients and family members in care is a growing area of research and practice as more family members express the desire to participate as constituents of the patient care team. In this study, we aim to understand patients’ perceptions of family participation in asthma self-management, particularly concerning health informatio...

Em Portugal mais de um quarto da população entre os 60 e os 79 anos tem diabetes mellitus tipo 2. As recomendações terapêuticas exigem autogestão pelos pacientes, pois envolvem mudanças de estilo de vida. Contudo, apenas cerca de 20% dos pacientes são ótimos autogestores. A autogestão está associada a crenças, sendo as metáforas mecanismos que refl...

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 of SCD in younger cases, postmortem genetic testing may be particularly useful in elucidating etiological factors in the cause of death in this subset. The identification of genes res...

Introduction: The national protocol of genetic counselling and pre-symptomatic testing for late-onset neurological diseases began in Portugal in 1995. Initially, it was accessible only to adults at-risk for Machado-Joseph disease, but was later extended to other hereditary ataxias, to Huntington's disease and to familial amyloid polyneuropathy cau...

This paper reports accounts from people at-risk for, or affected by, Machado-Joseph disease, and their family members, about their decisions not to seek pre-symptomatic testing, therefore remaining (for the time) uninformed about their genetic status. We draw on individual and family semi-structured interviews with participants recruited through a...

Technological advances have increased the availability of genomic data in research and the clinic. If, over time, interpretation of the significance of the data changes, or new information becomes available, the question arises as to whether recontacting the patient and/or family is indicated. The Public and Professional Policy Committee of the Eur...

Advances in genomic medicine are improving diagnosis and treatment of some health conditions, and the question of whether former patients should be recontacted is therefore timely. The issue of recontacting is becoming more important with increased integration of genomics in 'mainstream' medicine. Empirical evidence is needed to advance the discuss...

Rapid advances in microarray and sequencing technologies are making genotyping and genome sequencing more affordable and readily available. There is an expectation that genomic sequencing technologies improve personalized diagnosis and personalized drug therapy. Concurrently, provision of direct-to-consumer genetic testing by commercial providers h...

Diabetes mellitus is a chronic disease, being type 2 the more frequent form. In Portugal, it affects more than a quarter of the older population. The treatment is defined, but depends on patients' self-management. However, data shows that excellent self-management is low. Metaphors are mental models that reveal the lived experience, contributing to...

As inovações do conhecimento na genética e genómica têm implicações não apenas na redefinição das fronteiras entre saúde e doença, mas também na relação entre tecnologia, risco, ética, e cidadania. Para além da participação cidadã e de práticas coletivas, a cidadania genética articula-se em torno dos discursos e práticas profissionais no contexto c...

Genetic information is a family affair. With the expansion of genomic technologies, many new causal genes and variants have been established and the potential for molecular diagnoses increased, with implications not only for patients but also their relatives. The need for genetic counseling and intrafamilial circulation of information on genetic ri...

Resumo: Atualmente os cidadãos são parceiros dos sistemas formais na promoção da saúde. Na gestão das doenças hereditárias, o papel dos familiares como fonte de suporte é vital. O papel dos mais velhos emerge como crucial pela longa relação com a doença e com os doentes na família. Contudo, esse papel permanece pouco explorado, em particular, em do...

Direct-to-consumer genetic testing for disease ranges from well-validated diagnostic and predictive tests to ‘research’ results conferring increased risks. While being targeted at public curious about their health, they are also marketed for use in reproductive decision-making or management of disease. By virtue of being ‘direct-to-consumer’ much o...

Rationale: Genetic inherited conditions may result in feelings of stigmatisation, mainly because of visible physical appearance and its transmissibility to offspring. Objective: This article reports accounts of stigmatisation from Portuguese patients affected by the inherited neurodegenerative disease, familial amyloid polyneuropathy (FAP), livi...

The role of older generations in families with hereditary diseases has been recognised and associated to their function as guardians of the family’s medical history. However, research is scarce in examining the roles that older generations play in terms of health promotion and risk management towards younger generations, which is particularly evide...

This paper explores the health information-seeking practices of healthy young adults and how they assess and rank sources of information through a qualitative study. The findings show that participants (a) are strongly committed to searching for information about health and lifestyle, especially via the Internet; (b) healthcare professionals were p...

Giving and receiving a material inheritance is a major topic in old age, tied up to the life story and with shaping the manner in which one will be remembered. This study adopts the self-confrontation method to explore the meanings and affects that elderly persons attach to the material inheritance, considering their experiences both as heirs and d...

Supporting consultands to communicate risk information with their relatives is key to obtaining the full benefits of genetic health care. To understand how health-care professionals address this issue in clinical practice and what interventions are used specifically to assist consultands in their communication of genetic information to appropriate...

Genetic conditions differ from most other diseases, since individual genetic tests may reveal potential risks for other family members. Biological relatives share genetic material that may determine their risk of either suffering from a specific disease themselves or of having a child carrying a genetic condition. As such, genetics is a family affa...

Portugal is one of the European countries where genetic counseling is emerging as an independent clinical and scientific field, paralleling the international expansion of this profession. Important steps have been consistently made towards establishing safe and ethical genetic counseling, delivered by adequately trained professionals. In 1998, Clin...

Quality assessment of genetic counseling practice for improving healthcare is a challenge for genetic services worldwide; however, there is scarce literature regarding quality issues in genetic counseling in the context of presymptomatic testing for late-onset neurological diseases (Paneque et al. 2012) The aims of this qualitative study were to: (...

A non-experimental exploratory study examining a multifamily discussion group for colorectal at-risk individuals and their families is described. Four families attended a 90-minute four-session psychoeducational programme at a genetics centre of a Portuguese public hospital. A postprogramme focus group interview was performed to assess practical an...

Although available guidelines for familial cancer risk counseling clearly state the need to provide adequate psychosocial assessments and support, this feature of care is only available in part for individuals and families in oncogenetic counseling protocols in Portugal. The purpose of this study was to examine the psychosocial aspects of oncogenet...

Este artigo aborda as estratégias usadas no enfrentamento de problemas de saúde por um grupo de imigrantes, para além das fronteiras do país de acolhimento. Com base numa metodologia qualitativa, toma-se o caso dos imigrantes Cabo-verdianos na Holanda como ponto de partida para discutir um processo de negociação terapêutica pautado pela escolha de...

This article addresses the strategies employed by Cape Verdean immigrants in the Netherlands to deal with health problems.Drawing on qualitative research, it discusses the choice of plural therapeutic itineraries, including the use of informal, formal and transnational healthcare. These pathways are influenced by Cape Verdeans' lay rationalities ab...

This pilot-study aimed to assess a psychoeducational program for staff in care homes. The program was designed to increase knowledge regarding dementia care, promote skills to integrate motor and multisensory stimulation in daily care, and develop coping strategies to manage emotional work-related demands. Six staff members received eight psychoedu...

This paper reports the results of semi-structured family interviews conducted with a purposive sample of nine families (comprising 50 individuals) involved in cancer genetic counselling at a Portuguese public hospital. Qualitative analysis resulted in thematic categories illustrating: (1) how families go through cancer genetic counselling (elicitin...

This article examines genetics healthcare professionals' opinions about a multifamily psychoeducational programme for hereditary cancer susceptibility families, implemented at a Portuguese genetics service. Their views on how a family-oriented approach is envisioned to be incorporated in Portuguese genetic counselling services are also reported. Si...

Este artigo de revisão da literatura centra tópicos relevantes na investigação e intervenção em redes familiares e sociais no âmbito do aconselhamento genético. Foca o papel dos familiares mais idosos na gestão psicossocial do risco genético a doenças hereditárias (particularmente, cancros hereditários) e suas implicações no aconselhamento gené...

Background Caring for people with dementia can be very stressful for direct care staff working in residential facilities, due to residents’ challenging behaviours (e.g., delusions, aggression and agitation) and to the insufficient specialized training in dementia care. Despite the association between staff’s stress and residents’ well-being, the ma...

In this paper we describe the development and pilot implementation, in a primary care context, of a programme for helping families adapt to living with a person with dementia (proFamilies-dementia). This programme aims to promote the healthy adaptation of the family to the presence of an elderly member with dementia living in their homes. It compri...

MENDES Á.F., SANTOS T.A. & SOUSA L. (2010) European Journal of Cancer Care20, 204–211 Experiencing genetic counselling for hereditary cancers: the client's perspective As genetic health care expands and genetic testing becomes more widely available, it becomes relevant to understand how individuals involved in genetic counselling are integrating th...

As genetic health care expands and genetic testing becomes more widely available, it becomes relevant to understand how individuals involved in genetic counselling are integrating this new information in health management and into their lives. This article examines the client's experiences of genetic counselling for hereditary cancers, which defini...

The availability of family-centred services for women genetically at-risk for breast and ovarian cancer (BRCA) due to deleterious genetic mutations is still scarce, despite the distress that these women and their families may experience. This study describes a multi-family group intervention for women who tested positive for BRCA mutations and thei...

This paper describes a psycho-educational multi-family discussion group intervention for cancer patients and their families (proFamilies) which was implemented and evaluated at the IPOFG - CROC (Portuguese Cancer Institute, Regional Centre of Coimbra). It is a brief and highly structured programme which involves educational and support components a...