The role of qualitative research in medical genetics: Listening to the voices of our patients

Bernhardt, Barbara A.

doi:10.1002/ajmg.a.32587

Cited by 11 publications

(8 citation statements)

References 29 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…This is a qualitative investigation that has explored parents’ in‐depth opinions toward genetic testing for IRDs in a Chinese population. This qualitative method can lead to learning about the impact of a genetic disorder on families by listening to their collective stories, analyzing their responses, and summarizing their experiences (Bernhardt, ).…”

Section: Discussionmentioning

confidence: 99%

Parents' perceptions of diagnostic genetic testing for children with inherited retinal disease in China

Wang

Huang

et al. 2019

Molec Gen & Gen Med

View full text Add to dashboard Cite

Background In this study, we aim to investigate the awareness of, attitudes toward, and experiences with diagnostic genetic testing among parents of children suspected of having inherited retinal disease (IRDs) in China. Methods Semistructured, face‐to‐face, and in‐depth interviews were carried out with parents of children with suspected IRDs in this qualitative study. Inductive content analysis was used for data processing. Results Forty‐six parents participated in our interviews, and 47.8% of them supported genetic testing for following four main reasons: to help in making informed reproductive health decisions, to prepare for novel potential treatment, to identify the underlying causes of IRDs, and to satisfy curiosity about the heredity of IRDs. Among them, 19.6% were opposed to the testing for four main reasons, namely lack of therapeutic benefit, difficulty in affording the testing cost, doubt in the accuracy of clinical diagnosis, and the presence of concerns about the limitations of genetic testing. 47.8% of the parents expressed concerns that the genetic findings might lead to potential psychological stress. Conclusion In this study, we showed that nearly half of the parents supported genetic testing mainly for family planning, and a fifth of the parents were opposed to the testing mainly for lack of therapeutic benefit. Moreover, half of the parents expressed concern that a positive genetic result may create potential psychological burden to the parents and children.

show abstract

Section: Discussionmentioning

confidence: 99%

Parents' perceptions of diagnostic genetic testing for children with inherited retinal disease in China

Wang

Huang

et al. 2019

Molec Gen & Gen Med

View full text Add to dashboard Cite

show abstract

“…Studies could also be improved by using existing theoretical models to develop hypotheses about children's response to genetic information about health. [62][63][64][65][66][67][68][69][70][71][72] Including less extensively studied concepts such as benefit finding, [63][64][65] hoped for and feared possible selves, 66,67 adaptive coping, 63,68 resilience traits, 69 and communal coping responses 70 may lead to a richer understanding of children's testing experienced. Furthermore, research that examines the translational potential of genomic or genetic testing of children (e.g., studies assessing methods for communicating test results, approaches for the use of testing in clinical settings, and influences of testing on health or health behavior outcomes) should be considered alongside psychosocial effects so as to make possible a balanced risk/benefit analysis before the test implementation.…”

Section: Discussionmentioning

confidence: 99%

Effects of genetic risk information on children's psychosocial wellbeing: A systematic review of the literature

Wade

Wilfond

McBride

2010

Genetics in Medicine

View full text Add to dashboard Cite

Purpose: As advances in research have made a growing number of genetic tests available, clinicians will increasingly be faced with making decisions about when offering genetic testing services to children is appropriate. A key factor in such decisions involves determining whether knowledge of genetic health risks might have an impact on children's psychosocial wellbeing. Methods: We conducted a systematic review of the literature using five online databases to identify studies that assessed the impact of communicating nondiagnostic carrier or presymptomatic genetic test results to children. Results: A total of 17 articles met the inclusion criteria for this review. These studies used a wide range of methodologies to explore carrier and predictive testing. Although there was little quantitative evidence that receiving genetic test results led to a significant impact on children's psychosocial wellbeing, it was found that methodological inconsistencies, small samples, and reliance on assessments most appropriate for psychopathology make any firm conclusions about the impact of genetic testing on children premature. Conclusion: Currently, there is insufficient evidence to inform a nuanced understanding of how children respond to genetic testing. This suggests a strong need for further research that uses rigorous approaches to address children's emotional states, self-perception, and social wellbeing. Genet Med 2010:12(6):317-326.

show abstract

“…Unlike quantitative research, aimed at testing a hypothesis in a large, randomly selected sample, qualitative inquiry focuses on small, selected samples to capture the most relevant variation in the study population. 12 Participants were the first-degree relatives of SCD victims registered in the CAREFUL study as well as of other recently deceased young SCD victims who attended a cardiogenetics clinic for cardiological and genetic evaluation. The clinics were at the Academic Medical Centre, Amsterdam, or the University Medical Centre Groningen, Groningen, both in the Netherlands.…”

Section: Setting and Participantsmentioning

confidence: 99%

Experiences, considerations and emotions relating to cardiogenetic evaluation in relatives of young sudden cardiac death victims

et al. 2013

View full text Add to dashboard Cite

Relatives of young sudden cardiac death (SCD) victims are at increased risk of carrying a potentially fatal inherited cardiac disease. Hence, it is recommended to perform an autopsy on the victim and to refer his or her relatives to a cardiogenetics clinic for a full evaluation to identify those at risk and allow preventive measures to be taken. However, at present, the number of families attending a cardiogenetics clinic after the SCD of a young relative is low in the Netherlands. We performed a qualitative study and report on the experiences and attitudes of first-degree relatives who attended a cardiogenetics clinic for evaluation. In total, we interviewed nine first-degree relatives and one spouse of seven SCD victims about their experiences, considerations and emotions before attendance and at the first stage of the cardiogenetic evaluation before DNA results were available. Interviews were transcribed verbatim and analysed. Medical professionals did not have an important role in informing or referring relatives to a cardiogenetics clinic. Importantly, all participants indicated that they would have appreciated a more directive approach from medical professionals, because their mourning process hampered their own search for information and decision-making. A need to understand the cause of death and wanting to prevent another SCD event occurring in the family were the most important reasons for attending a clinic. There are possibilities to improve the information process and better support their decision-making. The multidisciplinary cardiogenetic evaluation was appreciated, but could be improved by minor changes in the way it is implemented.

show abstract

The role of qualitative research in medical genetics: Listening to the voices of our patients

Cited by 11 publications

References 29 publications

Parents' perceptions of diagnostic genetic testing for children with inherited retinal disease in China

Parents' perceptions of diagnostic genetic testing for children with inherited retinal disease in China

Effects of genetic risk information on children's psychosocial wellbeing: A systematic review of the literature

Experiences, considerations and emotions relating to cardiogenetic evaluation in relatives of young sudden cardiac death victims

Contact Info

Product

Resources

About