scholarly journals The Spillover of Genomic Testing Results in Families: Same Variant, Different Logics

2017 ◽  
Vol 58 (2) ◽  
pp. 166-180 ◽  
Author(s):  
Stefan Timmermans ◽  
Tanya Stivers

Due to heritability, next-generation genetic tests have the potential to affect family members beyond the patient being tested. Geneticists and genetic counselors, in dialogue with patients and their relatives, will need to establish for whom and in what way genomic testing results matter during the communication of testing results, indicating the spillover of presumed pathological variants. On the basis of video-recorded consultations of the return of exome results in a genetics clinic, we distinguish three different logics deployed to explain the relevance of the findings for the patient, extended family members, and unborn relatives. While geneticists tend to be cautious in interpreting findings for the patient and living relatives, the findings become more deterministic in the context of reproductive decision making. The presentation of results then establishes the causal role of variants and reflects back on disability as a state to be prevented, in the process establishing genetic ties between kin.

Author(s):  
Eva Feder Kittay

Inquiring into the relation between reproductive decision-making and the unexpected, this chapter claims that reproductive choices around disability bring out inherent paradoxes of choice in the face of uncertainty. Arguing that reproductive decisions around disability, like all reproductive decisions, must be left to the person carrying the child, this chapter also insists that reproductive choices attend to the role of chance and unexpected outcomes.


2013 ◽  
Vol 2 (1) ◽  
pp. 13-16
Author(s):  
Kirsten FL Douma ◽  
Hans FA Vasen ◽  
Neil K Aaronson ◽  
Eveline MA Bleiker

2021 ◽  
Vol 18 (1) ◽  
Author(s):  
Ariadna Huertas-Zurriaga ◽  
Patrick A. Palmieri ◽  
Joan E. Edwards ◽  
Sandra K. Cesario ◽  
Sergio Alonso-Fernandez ◽  
...  

Abstract Background Women living with HIV (WLH) lack evidence-based information about reproductive options while managing pressures from family, clinicians, and communities to give up the idea of having children. As the reproduction intentions of WLH are not well understood, stigmatizing behaviors force them to hide their disease to avoid rejection by their family, partner, and social networks. Compliance with social norms, fear of stigma, and discrimination influence their experience. Current research is individual qualitative studies lacking the synthesis perspective necessary to guide intervention development. The purpose of this study was to synthesize the evidence to explain the reproductive decision-making process for WLH in developed countries. Methods A systematic review with qualitative research synthesis was conducted through searches in 10 electronic databases (CINAHL, EMBASE, MEDLINE, Scopus, Social Science Citation Index, Web of Science, Google Scholar, Cuidatge, Cuiden Enfispo, and SciELO). Studies published in journals from 1995 to 2019 with qualitative data about reproductive decision-making among WLH in developed countries were eligible for inclusion. Developed country was operationalized by membership in the OECD for comparative conditions of social wellbeing and economic stability. The CASP and JBI checklists for qualitative research were used to assess study quality and methodological integrity. Thematic analysis and qualitative meta-summary techniques were used for the synthesis. Results Twenty studies from 12 developed countries were included in the synthesis. Findings were organized into 3 meta-themes from 15 themes and 45 subthemes, including: (1) Shattered identity, (2) Barriers, inequities, and misinformation, (3) Coping, resiliency, and support. Reproductive decision-making was perceived as a complex process influenced by facilitators and barriers. The facilitators helped WLH cope with their new situation to become more resilient, while the barriers made their situation more difficult to manage. Conclusion WLH encounter reproductive decision-making with knowledge deficits and limited social support. An integrated approach to holistic care with comprehensive multidisciplinary counseling is needed to support WLH. Clinicians could benefit from professional development to learn how to be authentically present for WLH, including engaging in conversations, demonstrating compassion, and understanding situations. Evidence-based clinical practice guidelines need to be tailored for the family planning and sexual health needs of WLH.


Epilepsia ◽  
2021 ◽  
Author(s):  
Jacquelyn Nakamura ◽  
Shawn T. Sorge ◽  
Melodie R. Winawer ◽  
Jo C. Phelan ◽  
Wendy K. Chung ◽  
...  

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