Factor's that impact on women's decision-making around prenatal genomic tests: An international discrete choice survey

OBJECTIVE: We conducted a survey-based discrete-choice experiment (DCE) to understand the test features that drive women's preferences for prenatal genomic testing, and explore variation across countries. METHODS: Five test attributes were identified as being important for decision-making through a literature review, qualitative interviews and quantitative scoring exercise. Twelve scenarios were constructed in which respondents choose between two invasive tests or no test. Women from eight countries who delivered a baby in the previous 24 months completed a DCE presenting these scenarios. Choices were modeled using conditional logit regression analysis. RESULTS: Surveys from 1239 women (Australia: n = 178; China: n = 179; Denmark: n = 88; Netherlands: n = 177; Singapore: n = 90; Sweden: n = 178; UK: n = 174; USA: n = 175) were analyzed. The key attribute affecting preferences was a test with the highest diagnostic yield (p < 0.01). Women preferred tests with short turnaround times (p < 0.01), and tests reporting variants of uncertain significance (VUS; p < 0.01) and secondary findings (SFs; p < 0.01). Several country-specific differences were identified, including time to get a result, who explains the result, and the return of VUS and SFs. CONCLUSION: Most women want maximum information from prenatal genomic tests, but our findings highlight country-based differences. Global consensus on how to return uncertain results is not necessarily realistic or desirable

Prenatal Genetic Counseling: Practical Support for Prenatal Diagnostics, Decision-Making, and Dealing with Uncertainty

Prenatal Genetic Counseling: Practical Support for Prenatal Diagnostics, Decision-Making, and Dealing with Uncertainty provides a foundation for new research and a one-stop source for physicians, genetic counselors, psychologists, social workers, general practitioners, grief workers, translational researchers, and administrators seeking to work in the field of clinical genomics ethically and in full consideration of patients’ psychological well-being. Here, an international team of experienced counselors and clinician-scientists lay out the range of methods and technologies applied in prenatal decision-making, including NIPT; invasive testing with microarray analysis or whole genome sequencing; ultrasound screening; and prenatal diagnosis for known hereditary conditions, among others. From here, they examine specific challenges in the clinical translation. In a field where decisions about life or death of a child are made, professionals are bound to encounter uncertainty. This book was co-created by health care practitioners, scientists, patients and students to provide insights and direction for offering support straight from the heart to couples faced with fetal anomalies. To make this possible for all couples, diversity in prenatal genetic counseling is also addressed. Finally, next steps in prenatal genetic counseling research and clinical implementation are discussed. As we are challenged by the rapid advances in prenatal genomics, so are our patients. Learning from our patients with every encounter, this book aims to offer access to the insights we gathered as well as to stimulate lifelong learning

Dealing with uncertainty in prenatal genomics

Genomic technologies such as chromosomal microarray and exome sequencing are increasing the number of genetic diagnoses made during pregnancy. However, there remain numerous challenges in interpreting results in a way that is meaningful for prospective parents. A key challenge is how to deal with uncertain results such as variants of unknown or uncertain significance and secondary findings. In this chapter, we explore the different types of uncertainties that arise in prenatal genomics and explore parents and health professionals’ experiences of receiving or returning these results. We also make suggestions about how health professionals can manage uncertainty in the clinical setting.</p

Dealing with uncertainty in prenatal genomics

Genomic technologies such as chromosomal microarray and exome sequencing are increasing the number of genetic diagnoses made during pregnancy. However, there remain numerous challenges in interpreting results in a way that is meaningful for prospective parents. A key challenge is how to deal with uncertain results such as variants of unknown or uncertain significance and secondary findings. In this chapter, we explore the different types of uncertainties that arise in prenatal genomics and explore parents and health professionals’ experiences of receiving or returning these results. We also make suggestions about how health professionals can manage uncertainty in the clinical setting.</p

In the Era of the Actionable Genome, Everyone is Responsible

Genomics professionals and the general public have a responsibility to bridge the gap between science and society. The general public has a responsibility to deliberate, as their choices not only impact themselves but also shape society. Conversely, genomics professionals have a responsibility to enable the process of opinion formation

Experts in science communication

Even if the predominant model of science communication with the public is now based on dialogue, many experts still adhere to the outdated deficit model of informing the public.[Image: see text

Frontotemporal Dementia: Change of Familial Caregiver Burden and Partner Relation in a Dutch Cohort of 63 Patients

Background/Aims: The current study examined the change of caregiver burden and the development of the quality of the partner relation in frontotemporal dementia (FTD). Methods: During a 2-year period, deterioration, behavioural problems, caregiver burden, general psychopathology, quality of life, social support, coping strategies and relationship quality were inspected in 63 FTD caregiver-care recipient dyads. Results: After 2 years patients reached maximum dementia severity with stable Neuropsychiatric Inventory levels. Contrary to expectations, caregiver burden decreased and psychological well-being remained stable. Coping style and social support changed unfavourably. Relationship closeness and getting along were preserved, whereas communication and sharing viewpoint on life were dramatically reduced. Conclusions: FTD caregivers need support in coping with the increasingly hopeless situation of their patients. Future research methods into caregiver burden should address response shift as a means for psychological adjustment. Copyright (C) 2008 S. Karger AG, Base