A qualitative study among patients with an inherited retinal disease on the meaning of genomic unsolicited findings

AbstractExome-based testing for genetic diseases can reveal unsolicited findings (UFs), i.e. predispositions for diseases that exceed the diagnostic question. Knowledge of patients’ interpretation of possible UFs and of motives for (not) wanting to know UFs is still limited. This lacking knowledge may impede effective counselling that meets patients’ needs. Therefore, this article examines the meaning of UFs from a patient perspective. A qualitative study was conducted and an interpretative phenomenological analysis was made of 14 interviews with patients with an inherited retinal disease. Patients assign a complex meaning to UFs, including three main components. The first component focuses on result-specific qualities, i.e. the characteristics of an UF (inclusive of actionability, penetrance, severity and age of onset) and the consequences of disclosure; the second component applies to a patient’s lived illness experiences and to the way these contrast with reflections on presymptomatic UFs; the third component addresses a patient’s family embedding and its effect on concerns about disease prognosis and genetic information’s family relevance. The complex meaning structure of UFs suggests the need for counselling procedures that transcend a strictly clinical approach. Counselling should be personalised and consider patients’ lived illness experiences and family context.

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Paternal Uniparental Isodisomy of Chromosome 2 in a Patient with CNGA3-Associated Autosomal Recessive Achromatopsia

International Journal of Molecular Sciences ◽

10.3390/ijms22157842 ◽

2021 ◽

Vol 22 (15) ◽

pp. 7842

Author(s):

Susanne Kohl ◽

Britta Baumann ◽

Francesca Dassie ◽

Anja K. Mayer ◽

Maria Solaki ◽

...

Keyword(s):

Segregation Analysis ◽

Molecular Genetic ◽

Retinal Disease ◽

Underlying Mechanism ◽

Recurrence Risk ◽

Molecular Genetic Analysis ◽

Recessive Mutation ◽

Chromosome 2 ◽

Inherited Retinal Disease ◽

Uniparental Isodisomy

Achromatopsia (ACHM) is a rare autosomal recessively inherited retinal disease characterized by congenital photophobia, nystagmus, low visual acuity, and absence of color vision. ACHM is genetically heterogeneous and can be caused by biallelic mutations in the genes CNGA3, CNGB3, GNAT2, PDE6C, PDE6H, or ATF6. We undertook molecular genetic analysis in a single female patient with a clinical diagnosis of ACHM and identified the homozygous variant c.778G>C;p.(D260H) in the CNGA3 gene. While segregation analysis in the father, as expected, identified the CNGA3 variant in a heterozygous state, it could not be displayed in the mother. Microsatellite marker analysis provided evidence that the homozygosity of the CNGA3 variant is due to partial or complete paternal uniparental isodisomy (UPD) of chromosome 2 in the patient. Apart from the ACHM phenotype, the patient was clinically unsuspicious and healthy. This is one of few examples proving UPD as the underlying mechanism for the clinical manifestation of a recessive mutation in a patient with inherited retinal disease. It also highlights the importance of segregation analysis in both parents of a given patient or especially in cases of homozygous recessive mutations, as UPD has significant implications for genetic counseling with a very low recurrence risk assessment in such families.

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Methodological Challenges in the Economic Evaluation of a Gene Therapy for RPE65-Mediated Inherited Retinal Disease: The Value of Vision

PharmacoEconomics ◽

10.1007/s40273-021-01003-y ◽

2021 ◽

Vol 39 (4) ◽

pp. 383-397

Author(s):

Simone A. Huygens ◽

Matthijs M. Versteegh ◽

Stefan Vegter ◽

L. Jan Schouten ◽

Tim A. Kanters

Keyword(s):

Gene Therapy ◽

Economic Evaluation ◽

Retinal Disease ◽

Inherited Retinal Disease ◽

Methodological Challenges

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Endpoints for Measuring Efficacy in Clinical Trials for Inherited Retinal Disease

International Ophthalmology Clinics ◽

10.1097/iio.0000000000000388 ◽

2021 ◽

Vol 61 (4) ◽

pp. 63-78

Author(s):

Daniel C. Chung ◽

David G. Birch ◽

Robert E. MacLaren

Keyword(s):

Clinical Trials ◽

Retinal Disease ◽

Inherited Retinal Disease

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Understanding each other in the medical encounter: Exploring therapists’ and patients’ understanding of each other’s experiential knowledge through the Imitation Game

Health An Interdisciplinary Journal for the Social Study of Health Illness and Medicine ◽

10.1177/1363459317721100 ◽

2017 ◽

Vol 22 (6) ◽

pp. 558-579 ◽

Cited By ~ 1

Author(s):

Rik Wehrens ◽

Bethany Hipple Walters

Keyword(s):

Health Care Professionals ◽

Interpretative Phenomenological Analysis ◽

Research Method ◽

Phenomenological Analysis ◽

Experiential Knowledge ◽

Provider Communication ◽

Imitation Game ◽

Eating Disorder Treatment ◽

Illness Experiences ◽

Patient Provider Communication

The ability of health-care professionals to understand the lived experiences of their patients has become increasingly important but has been a difficult topic to investigate empirically because it involves two distinctive research strands: interpretative phenomenological analysis and patient–provider communication. While interpretative phenomenological analysis focuses on experiences and illness narratives of patients, but not on therapist’s understanding of those, patient–provider communication surveys focus primarily on effective forms of communication without addressing the actual illness experiences of patients. There is a need for empirical research that combines both strands to investigate not only the experiences of patients but also whether professionals are able to understand these. This study combined both strands by means of a novel research method called the Imitation Game (combined with other qualitative methods). This sociological method was developed to investigate what different social groups know of each other’s lifeworld. It focused on the important domain of eating disorder treatment to investigate whether therapists were able to understand the experiences of their patients and vice versa. This study provides insights into the domains in which therapists and patients were able to develop insights into each other’s experiential knowledge (and where they had difficulties in doing so). The findings also implicate the high potential of the Imitation Game as an interdisciplinary research method. We propose that the Imitation Game may be particularly valuable as a ‘can opener’ that enables the development of in-depth, qualitative insights into the substantive themes that matter in the lifeworlds of patients and therapists.

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Siblings’ Experiences of Everyday Life in a Family Where One Child Is Diagnosed With Blood Cancer: A Qualitative Study

Journal of Pediatric Oncology Nursing ◽

10.1177/1043454218818067 ◽

2018 ◽

Vol 36 (2) ◽

pp. 131-142 ◽

Cited By ~ 4

Author(s):

Marieke Van Schoors ◽

Jan De Mol ◽

Natacha Laeremans ◽

Lesley L. Verhofstadt ◽

Liesbet Goubert ◽

...

Keyword(s):

Qualitative Study ◽

Family Life ◽

Interpretative Phenomenological Analysis ◽

Life Experiences ◽

Phenomenological Analysis ◽

Safe Harbor ◽

Semistructured Interview ◽

Information Communication ◽

Blood Cancer ◽

Non Hodgkin Lymphoma

Background: Childhood cancer not only presents challenges to the life of the child with cancer but also to the siblings’ daily family life. The aim of the current study was to gain a better understanding of siblings’ experiences of living in a family where one child has been diagnosed with blood cancer. Method: Ten siblings of children with leukemia or non-Hodgkin lymphoma completed a semistructured interview about their everyday family life experiences postdiagnosis. The verbatim transcripts of the interviews served as the data for an interpretative phenomenological analysis. Results: The results showed that overall the siblings experienced a continuity in many aspects of their family life: they still experienced their family as an important source of support and information/communication, as warm and loving and as a safe harbor where family members aim to protect each other. However, at the same time, the participating siblings also expressed that some things felt unmistakably different postdiagnosis: They felt that their family as a whole had been ripped apart, with a greater focus on the diagnosed child and changing responsibilities for each family member. Conclusion: This study informs parents and clinicians about the daily family life experiences from the siblings’ perspective, a perspective that is often overlooked. A focus on challenges as well as continuities within family life, the wish for connection expressed by the siblings, and the uniqueness of every sibling’s experiences is what can be taken away from this study by psychosocial workers in the field.

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The Embodiment of Discovery: An Adapted Framework for Qualitative Analysis of Lived Experiences

The Qualitative Report ◽

10.46743/2160-3715/2021.4748 ◽

2021 ◽

Author(s):

Helen Hernandez ◽

◽

Laurie Dringus ◽

Keyword(s):

Data Analysis ◽

Qualitative Study ◽

Qualitative Analysis ◽

Research Methodology ◽

Lived Experiences ◽

Interpretative Phenomenological Analysis ◽

Insulin Pump ◽

Doctoral Student ◽

Phenomenological Analysis ◽

Effective Strategy

We reflect on our process of working with an adapted framework as an effective strategy for analyzing and interpreting the results of our qualitative study on the lived experiences of insulin pump trainers. Interpretative Phenomenological Analysis (IPA) was applied as the overarching research methodology and was encapsulated into a framework adapted from Bonello and Meehan (2019) and from Chong (2019). We describe this framework as the “embodiment of discovery” to posit the researcher’s tangible experience of discovering the meaning of data that also brought transparency to the researcher’s process for data analysis and interpretation. We present challenges the doctoral student researcher experienced working with the framework through three phases and various steps performed during the analysis. We recommend the framework may assist novice researchers as a tool for wayfinding and scoping the structure of data analysis and interpretation. We conclude that novice researchers should not fear finding their “embodiment of discovery” in adapting creative or alternate methods for qualitative analysis.

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P059 QUALITY OF LIFE IN COMPLEX ABDOMINAL WALL HERNIA PATIENTS

British Journal of Surgery ◽

10.1093/bjs/znab395.055 ◽

2021 ◽

Vol 108 (Supplement_8) ◽

Author(s):

Olivia Smith ◽

Srinivas Chintapatla ◽

Praminthra Chitsabesan

Keyword(s):

Quality Of Life ◽

Qualitative Study ◽

Abdominal Wall ◽

Interpretative Phenomenological Analysis ◽

Abdominal Wall Hernia ◽

Phenomenological Analysis ◽

Social Processes

Abstract Aim determine themes reported as important to Quality of Life (QoL) in Complex Abdominal Wall Hernia (CAWH) patients Material and Methods 15 purposively sampled CAWH patients were interviewed using topic guides (8 men and 7 women aged between 36 to 85 years [median = 65 years] covering all VHWG grades). All verbatim transcripts were coded and analysed using NVIVO12 software and Interpretative Phenomenological Analysis (IPA) until thematic saturation. Results 3 overarching groupings and 5 superordinate themes were identified. Each superordinate theme is associated with several subordinate themes: Conclusions This is the first phenomenological qualitative study in CAWH patients. The themes presented are interrelated and should shape our understanding of QoL in CAWH. Current QoL tools do not incorporate all aspects identified by this study. Further research is needed in order to generate a standardised CAWH QoL instrument which incorporates bio-psycho-emotional-social processes important to patients as identified by patients.

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