A qualitative study of Latinx parents' experiences of clinical exome sequencing.
Ontology highlight
ABSTRACT:
SUBMITTER: Luksic D
PROVIDER: S-EPMC8409321 | biostudies-literature |
REPOSITORIES: biostudies-literature
Similar Datasets
Project description:Exome sequencing (ES) has revolutionized diagnostic procedures in medical genetics, particularly for developmental diseases. The variety and complexity of the information produced has raised issues regarding its use in a clinical setting. Of particular interest are patients' expectations regarding the information disclosed, the accompaniment provided, and the value patients place on these. To explore these issues in parents of children with developmental disorders and no diagnosis with known etiology, a multidisciplinary group of researchers from social and behavioral sciences and patient organizations conducted a mixed-methodology study (quantitative and qualitative) in two centers of expertise for rare diseases in France. The quantitative study aimed to determine the preferences of 513 parents regarding the disclosure of ES results. It showed that parents wished to have exhaustive information, including variants of unknown significance possibly linked to their child's disorder and secondary findings. This desire for information could be a strategy to maximize the chances of obtaining a diagnosis. The qualitative study aimed to understand the expectations and reactions of 57 parents interviewed just after the return of ES results. In-depth analysis showed that parents had ambivalent feelings about the findings whatever the results returned. The contrasting results from these studies raise questions about the value of the information provided and parents' high expectations regarding the results. The nature of parental expectations has emerged as an important topic in efforts to optimize accompaniment and support for families during the informed decision-making process and after disclosure of the results in an overall context of uncertainty.
| S-EPMC6461801 | biostudies-literature
Project description:ImportanceLatinx individuals, particularly immigrants, are at higher risk than non-Latinx White individuals of contracting and dying from coronavirus disease 2019 (COVID-19). Little is known about Latinx experiences with COVID-19 infection and treatment.ObjectiveTo describe the experiences of Latinx individuals who were hospitalized with and survived COVID-19.Design, setting, and participantsThe qualitative study used semistructured phone interviews of 60 Latinx adults who survived a COVID-19 hospitalization in public hospitals in San Francisco, California, and Denver, Colorado, from March 2020 to July 2020. Transcripts were analyzed using qualitative thematic analysis. Data analysis was conducted from May 2020 to September 2020.Main outcomes and measuresThemes and subthemes that reflected patient experiences.ResultsSixty people (24 women and 36 men; mean [SD] age, 48 [12] years) participated. All lived in low-income areas, 47 participants (78%) had more than 4 people in the home, and most (44 participants [73%]) were essential workers. Four participants (9%) could work from home, 12 (20%) had paid sick leave, and 21 (35%) lost their job because of COVID-19. We identified 5 themes (and subthemes) with public health and clinical care implications: COVID-19 was a distant and secondary threat (invincibility, misinformation and disbelief, ingrained social norms); COVID-19 was a compounder of disadvantage (fear of unemployment and eviction, lack of safeguards for undocumented immigrants, inability to protect self from COVID-19, and high-density housing); reluctance to seek medical care (worry about health care costs, concerned about ability to access care if uninsured or undocumented, undocumented immigrants fear deportation); health care system interactions (social isolation and change in hospital procedures, appreciation for clinicians and language access, and discharge with insufficient resources or clinical information); and faith and community resiliency (spirituality, Latinx COVID-19 advocates).Conclusions and relevanceIn interviews, Latinx patients with COVID-19 who survived hospitalization described initial disease misinformation and economic and immigration fears as having driven exposure and delays in presentation. To confront COVID-19 as a compounder of social disadvantage, public health authorities should mitigate COVID-19-related misinformation, immigration fears, and challenges to health care access, as well as create policies that provide work protection and address economic disadvantages.
| S-EPMC7953277 | biostudies-literature
Project description:Unsolicited findings (UFs) in clinical exome sequencing are variants that are unrelated to the initial clinical question the DNA test was performed for, but that may nonetheless be of medical relevance to patients and/or their families. There is limited knowledge about the impact of UFs on patients' lives. In order to characterise patient perceptions of the impact of an UF, we conducted 20 semi-structured face-to-face interviews with patients and/or their relatives to whom an UF predisposing to oncological disease (n = 10) or predisposing to a cardiac condition (n = 10) had been disclosed. We have identified a psychological, physical and financial aspect of the perceived impact of UF disclosure in exome sequencing. Actionability, understanding, patients' pre-test health and social context were influencing factors, according to our participants. Although most expressed considerable psychological impact initially, all but one participant would choose to undergo genetic testing again, knowing what they know now. These novel findings provide insight in patients' perspectives on the impact of UF disclosure. Our study highlights the value of incorporating patients' perceptions in UF disclosure policy.
| S-EPMC8187681 | biostudies-literature
Project description:Little is known about how parents explain to their children their risk of inheriting a gene that may cause disease in the child or in the child's future progeny. This study explored how genetic risk information is shared between family members and the factors affecting it, to ascertain the implications for children, young people and their parents to inform future service development and provision. A volunteer group of parents, children (8-11 years) and young people (12+ years) in families affected by or at risk of one of six inherited genetic conditions was interviewed. The semi-structured interviews explored the roles of family members, the language used and the self-reported psychological outcomes in a discussion on genetic risk information. The findings were analysed using grounded theory. A total of 33 families participated, which included 79 individuals. Parents often found discussing genetic risk information very difficult and emotionally painful. Discussions were not usually planned and often a major event prompted parents to finally explain genetic risks to their children; however, children usually preferred to learn about the genetic condition gradually throughout childhood. Parents identified a number of challenges they faced related to talking to children, and many thought health professionals should provide more advice to assist them in providing developmentally appropriate information. We therefore conclude that greater emphasis is required in supporting parents and children in discussing genetic risk information throughout their child's development. Open communication about genetic risks throughout childhood seemed to help children and parents cope better and come to terms with the implications of the genetic condition.
| S-EPMC3097166 | biostudies-other
Project description:This qualitative study was carried out with a phenomenological design to determine the life experiences of the parents of children with hearing loss. The study sample consisted of twenty parents, who did not have hearing loss, of children with hearing loss registered in a special education and rehabilitation center. The data were collected through in-depth interviews in Istanbul between December and January 2022. Colaizzi's phenomenological interpretation method was used for qualitative data analysis. It was determined that parents of children with hearing loss experienced anxiety, sadness, and happiness during diagnosis. They needed more information at first, but then they gained knowledge in the process, and it took work to accept this process. They stated that having a child with hearing loss requires more time, responsibility, and effort than other children. This situation affects their social life, and they experience interpersonal conflicts. When parents were asked how they coped, they said they did it through prayer, social support, or time to themselves. It can be recommended to apply psychosocial intervention programs to the parents of children with hearing loss, especially their mothers, from the first diagnosis process.
| S-EPMC10378033 | biostudies-literature
Project description:The increasing availability of exome sequencing to the general ("healthy") population raises questions about the implications of genomic testing for individuals without suspected Mendelian diseases. Little is known about this population's motivations for undergoing exome sequencing, their expectations, reactions, and perceptions of utility. In order to address these questions, we conducted in-depth semi-structured interviews with 12 participants recruited from a longitudinal multi-omics profiling study that included exome sequencing. Participants were interviewed after receiving exome results, which included Mendelian disease-associated pathogenic and likely pathogenic variants, pharmacogenetic variants, and risk assessments for multifactorial diseases such as type 2 diabetes. The primary motivation driving participation in exome sequencing was personal curiosity. While they reported feeling validation and relief, participants were frequently underwhelmed by the results and described having expected more from exome sequencing. All participants reported discussing the results with at least some family, friends, and healthcare providers. Participants' recollection of the results returned to them was sometimes incorrect or incomplete, in many cases aligning with their perceptions of their health risks when entering the study. These results underscore the need for different genetic counseling approaches for generally healthy patients undergoing exome sequencing, in particular the need to provide anticipatory guidance to moderate participants' expectations. They also provide a preview of potential challenges clinicians may face as genomic sequencing continues to scale-up in the general population despite a lack of full understanding of its impact.
| S-EPMC6456364 | biostudies-literature
Project description:BackgroundPerspectives of young people with eating disorders and their parents on helpful aspects of care should be incorporated into evidence-based practice and service design, but data are limited.AimsTo explore patient and parent perspectives on positive and negative aspects of care for young people with eating disorders.MethodSix online focus groups with 19 young people aged 16-25 years with existing or past eating disorders and 11 parents.ResultsThematic analysis identified three key themes: the need to (a) shift from a weight-focused to a more holistic, individualised and consistent care approach, with a better balance in targeting psychological and physical problems from an early stage; (b) improve professionals' knowledge and attitude towards patients and their families at all levels of care from primary to 'truly specialist'; (c) enhance peer and family support.ConclusionsYoung people and parents identified an array of limitations in approaches to care for young people with eating disorders and raised the need for change, particularly a move away from a primarily weight-focused treatment and a stronger emphasis on psychological needs and individualised care.Declaration of interestNone.
| S-EPMC6343117 | biostudies-literature
Project description:PurposeClinical genome or exome sequencing (GS/ES) provides a diagnosis for many individuals with suspected genetic disorders, but also yields negative or uncertain results for the majority. This study examines how parents of a child with an undiagnosed condition attribute personal utility to all types of ES results.MethodsReturn of 31 exome sequencing results was observed during clinic sessions, followed by semistructured interviews with parents one month later. Observations and interviews were recorded and transcribed. Data display matrices were used for content analysis and systematic comparisons of parents' perceptions of utility.ResultsES results could not provide all the answers to parents' questions, especially in cases of clinically uninformative results, but parents nonetheless attributed utility to the knowledge gained. Parents across all results categories used the genomic information to rule out possible causes, end or postpone the diagnostic odyssey, and shift focus to treatment and management of symptoms.ConclusionThis study suggests that parents value even uninformative ES results while expressing hope for future discoveries. As pediatric genetics moves toward GS/ES as a first-tier test, how parents perceive the personal utility of negative or uncertain results is an important topic for genetic counseling and further research.
| S-EPMC7192542 | biostudies-literature
Project description:Cardiovascular diseases are the world's leading cause of mortality. These diseases are rooted in an unhealthy lifestyle. In order to confront this subject, it is essential to identify several risk factors that contribute to heart disease (HD) in people with different attitudes, values, beliefs, expectations and motivations. This study was therefore an attempt to explain the adaptive experiences of children whose parents were involved in myocardial infarction since they were more likely subjected to get the so-called disease.To identify the risk factors and to clear ambiguity using a qualitative research method from the experiences of people at risk of the above mentioned disease.This qualitative study was a directed content analysis. Eighteen children (above 18 years old) of parents with a history of myocardial infarction participated, and were chosen with purposive sampling and the highest diversity. Data were collected through deep and semi structure interviews based on Protection Motivation Theory (PMT) from March to November 2015, and were analyzed along with their data collection and with usage of Lundman and Graneheim method. Interviews were conducted in non-stressful conditions with a place and time agreement.During content analysis process, 220 codes were extracted. After reviewing several times and summarizing, the codes were categorized based on similarity and proportion, and finally 12 subcategories and three categories were elicited including efforts to perform self-care in order to prevent HD, poor life style as a factor not to do preventive HD and health continuation with positive changes in life style.Most participants, despite intending to do self-care behaviors to prevent HD, due to factors such as time constraint, high costs, laziness, impatience and prioritizing other life affairs, did not pay attention to their health. Therefore, providing the training programs with an emphasis on life skills can play an important role in reducing perceived response cost and promoting health.
| S-EPMC5587012 | biostudies-literature
Project description:BACKGROUND:Hospital admission, like hospital discharge, represents a transition of care associated with changes in setting, healthcare providers and clinical management. While considerable efforts have focused on improving the quality and safety of hospital-to-home transitions, there has been little focus on transitions into hospital. OBJECTIVES:Among children hospitalised with ambulatory care sensitive conditions, we aimed to characterise families' experiences as they transitioned from outpatient to inpatient care, identify hospital admission processes and outcomes most important to families and determine how parental perspectives differed between children admitted directly and through emergency departments (ED). METHODS:We conducted semistructured interviews with parents of hospitalised children at four structurally diverse hospitals. We inquired about preadmission healthcare encounters, how hospital admission decisions were made and parents' preferences regarding hospital admission processes and outcomes. Interviews were transcribed verbatim and analysed using a general inductive approach. RESULTS:We conducted 48 interviews. Participants were predominantly mothers (74%); 45% had children with chronic illnesses and 52% were admitted directly. Children had a median of two (IQR 1-3) healthcare encounters in the week preceding hospital admission, with 44% seeking care in multiple settings. Patterns of healthcare utilisation were influenced by (1) disease acuity and healthcare access; (2) past experiences; and (3) varied perspectives about primary care and ED roles as hospital gatekeepers. Participants' hospital admission priorities included: (1) effective clinical care; (2) efficient admission processes; (3) safety and security; (4) timeliness; and (5) patient and family-centred processes of care. CONCLUSIONS:Families received preadmission care in several settings and described varying degrees of care coordination during their admission processes. This research can guide improvements in hospitals' admission systems, necessary to achieve health system integration and continuity of care.
| S-EPMC6330698 | biostudies-literature