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Enhancing genomic laboratory reports from the patients' view: A qualitative analysis.

ABSTRACT: The purpose of this study was to develop a family genomic laboratory report designed to communicate genome sequencing results to parents of children who were participating in a whole genome sequencing clinical research study. Semi-structured interviews were conducted with parents of children who participated in a whole genome sequencing clinical research study to address the elements, language and format of a sample family-directed genome laboratory report. The qualitative interviews were followed by two focus groups aimed at evaluating example presentations of information about prognosis and next steps related to the whole genome sequencing result. Three themes emerged from the qualitative data: (i) Parents described a continual search for valid information and resources regarding their child's condition, a need that prior reports did not meet for parents; (ii) Parents believed that the Family Report would help facilitate communication with physicians and family members; and (iii) Parents identified specific items they appreciated in a genomics Family Report: simplicity of language, logical flow, visual appeal, information on what to expect in the future and recommended next steps. Parents affirmed their desire for a family genomic results report designed for their use and reference. They articulated the need for clear, easy to understand language that provided information with temporal detail and specific recommendations regarding relevant findings consistent with that available to clinicians.

SUBMITTER: Stuckey H

PROVIDER: S-EPMC4744953 | biostudies-literature | 2015 Oct

REPOSITORIES: biostudies-literature

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Enhancing genomic laboratory reports from the patients' view: A qualitative analysis.

Stuckey Heather H Williams Janet L JL Fan Audrey L AL Rahm Alanna Kulchak AK Green Jamie J Feldman Lynn L Bonhag Michele M Zallen Doris T DT Segal Michael M MM Williams Marc S MS

American journal of medical genetics. Part A 20150618 10

The purpose of this study was to develop a family genomic laboratory report designed to communicate genome sequencing results to parents of children who were participating in a whole genome sequencing clinical research study. Semi-structured interviews were conducted with parents of children who participated in a whole genome sequencing clinical research study to address the elements, language and format of a sample family-directed genome laboratory report. The qualitative interviews were follow ...[more]

PMID: 26086630

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Project description:ImportancePatients with head and neck cancer manage a variety of symptoms at home on an outpatient basis. Clinician review alone often leaves patient symptoms undetected and untreated. Standardized symptom assessment using patient-reported outcomes (PROs) has been shown in randomized clinical trials to improve symptom detection and overall survival, although translation into real-world settings remains a challenge.ObjectiveTo better understand how patients with head and neck cancer cope with cancer-related symptoms and to examine their perspectives on standardized symptom assessment.Design, participants, and settingThis was a qualitative analysis using semistructured interviews of patients with head and neck cancer and their caregivers from November 2, 2020, to April 16, 2021, at a regional tertiary center in Canada. Purposive sampling was used to recruit a varied group of participants (cancer subsite, treatment received, sociodemographic factors). Drawing on the Supportive Care Framework, a thematic approach was used to analyze the data. Data analysis was performed from November 2, 2020, to August 2, 2021.Main outcomes and measuresPatient perception of ambulatory symptom management and standardized symptom assessment.ResultsAmong 20 participants (median [range] age, 59.5 [33-74] years; 9 [45%] female; 13 [65%] White individuals), 4 themes were identified: (1) timely physical symptom management, (2) information as a tool for symptom management, (3) barriers to psychosocial support, and (4) external factors magnifying symptom burden. Participants' perceptions of standardized symptom assessment varied. Some individuals described the symptom monitoring process as facilitating self-reflection and symptom detection. Others felt disempowered by the process, particularly when symptom scores were inconsistently reviewed or acted on.Conclusions and relevanceThis qualitative analysis provides a novel description of head and neck cancer symptom management from the patient perspective. The 4 identified themes and accompanying recommendations serve as guides for enhanced symptom monitoring.

Project description:IntroductionSeveral new treatment modalities are being developed for lysosomal storage disorders (LSDs), including gene therapy. As the currently available treatment options and their influence on disease progression differ greatly within the spectrum of LSDs, willingness to undergo gene therapy might vary among patients with LSDs and/or their representatives. The width of the LSD spectrum is illustrated by the differences between type 1 Gaucher disease, Fabry disease and Mucopolysaccharidosis type III (MPS III). For type 1 Gaucher and Fabry disease several therapies are available, resulting in a near normal or improved, but individually varying, prognosis. No treatment options are available for MPS III.AimTo identify factors influencing patients' and/or their representatives' decisions regarding undergoing gene therapy.MethodsFocus group discussions and semi-structured interviews were conducted with patients with type 1 Gaucher disease, Fabry disease and MPS III. Parents of MPS III patients were included as patients' representatives.ResultsNine Gaucher patients, 23 Fabry patients, two adult MPS III patients and five parents of MPS III patients participated in the study. The five main themes that arose were: outcome of gene therapy, risks and side effects, burden of gene therapy treatment, current situation and ethical aspects. Participants' views ranged from hesitance to eagerness to undergo gene therapy, which seemed to be mostly related to disease severity and currently available treatment options. Severe disease, limited treatment options and limited effectiveness of current treatment augmented the willingness to choose gene therapy. Gaucher and Fabry patients deemed the burden of treatment important. Fabry and MPS III patients and parents considered outcome important, suggesting hope for improvement. When asked to rank the factors discussed in the focus group discussions, Gaucher patients ranked outcome low, which could indicate a more cautious attitude towards gene therapy.ConclusionThis study underlines the importance of exploring patients' needs and expectations before using limited resources in the development of therapies for patient groups of which a significant subset may not be willing to undergo that specific therapy.

Project description:BackgroundIntimate partner violence (IPV) is a prevalent public health problem that affects millions of families. Much of what is known about IPV comes from quantitative studies that often "count" acts of IPV without exploring in depth the circumstances surrounding the violence, thereby leaving critical questions unanswered; existing qualitative studies tend to focus solely on women's perspectives. There is a dearth of dyadic qualitative research exploring the context of IPV in families with children, thus hindering the development of effective interventions for families experiencing IPV.MethodsSeven heterosexual couples were recruited from a University-based family therapy clinic to participate in qualitative interviews. Couples were eligible if they had experienced severe verbal or any physical aggression during the past 4 months; had ≥ one child living in the household; were English-speaking; and were ≥ 18. Each individual was interviewed separately. Key topics explored included specific types of violence used by men and women; primary triggers and the context surrounding aggressive disagreements; degree to which the child(ren) were exposed; and perceived consequences for adults and children.ResultsAll couples listed household responsibilities and parenting as key IPV triggers. Couples with infants reported that parenting disagreements were particularly heated, with women using aggression due to frustration about their partners' lack of support. Couples also described substance use, wanting to be heard, and prior violence histories as triggers or as the background context for IPV episodes. Children were present during IPV and often intervened in conflicts involving severe violence. Parents' perceptions of the effects of IPV on their children ranged from minimal to major emotional distress, with men describing more significant impact than women.ConclusionsWhen describing acute triggers, parents most commonly mentioned that arguments were instigated by concerns about the division of household labor and parenting, a finding that may have significant implications for intervention development; this was particularly notable for parents of infants. Our findings emphasize the need for innovative programs that help parents cope with the stresses of raising a family as well as programs that directly address the consequences of IPV for children.

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Enhancing genomic laboratory reports from the patients' view: A qualitative analysis.

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Enhancing genomic laboratory reports from the patients' view: A qualitative analysis.

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