Expanded preconception carrier screening in clinical practice: cutting the Gordian Knot

Lindheim, Steven R.; Jaeger, Ami S.

doi:10.1016/j.fertnstert.2015.06.016

Cited by 11 publications

(6 citation statements)

References 1 publication

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“…There is a burgeoning prevalence of Reproductive Endocrinology and Infertility clinic testing, and test manufacturers are producing new and expanded test options for use before and after conception (eg, microarray analyses, expanded preimplantation genetic testing). 37,38 The technological advancement of genetic testing in the infertility setting is out-running people's ability to absorb, process, and form attitudes toward the moral, ethical, personal, and familial implications of such testing. 39,40 The increasing complexity and options for reproductive genetic testing have direct implications for information processing and the decision-making process.…”

Section: Wider Implications and Conclusionmentioning

confidence: 99%

Review of patient decision‐making factors and attitudes regarding preimplantation genetic diagnosis

et al. 2018

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The increasing technical complexity and evolving options for repro-genetic testing have direct implications for information processing and decision making, yet the research among patients considering preimplantation genetic diagnosis (PGD) is narrowly focused. This review synthesizes the literature regarding patient PGD decision-making factors, and illuminates gaps for future research and clinical translation. Twenty-five articles met the inclusion criteria for evaluating experiences and attitudes of patients directly involved in PGD as an intervention or considering using PGD. Thirteen reports were focused exclusively on a specific disease or condition. Five themes emerged: (1) patients motivated by prospects of a healthy, genetic-variant-free child, (2) PGD requires a commitment of time, money, energy and emotions, (3) patients concerned about logistics and ethics of discarding embryos, (4) some patients feel sense of responsibility to use available technologies, and (5) PGD decisions are complex for individuals and couples. Patient research on PGD decision-making processes has very infrequently used validated instruments, and the data collected through both quantitative and qualitative designs have been inconsistent. Future research for improving clinical counseling is needed to fill many gaps remaining in the literature regarding this decision-making process, and suggestions are offered.

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Section: Wider Implications and Conclusionmentioning

confidence: 99%

Review of patient decision‐making factors and attitudes regarding preimplantation genetic diagnosis

et al. 2018

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“…Many medical professionals have expressed concerns about the general lack of ECS knowledge among health care providers who are most likely to interact with patients before and after tests, including gynecologists, obstetricians, and other nonspecialist health care providers (Benn et al, 2014; Lindheim, Stammler, & Jaeger, 2015). For example, Benn et al (2014) conducted a survey of obstetricians and gynecologists and found that only 33% were comfortable counseling patients before testing and even fewer, 24.9%, were comfortable explaining results.…”

Section: Literature Reviewmentioning

confidence: 99%

“…Most professionals agree that genetic counseling is critical for patients to understand what testing will include, what results will and will not indicate, and what results mean (Cho et al, 2013; Edwards et al, 2015). The concern for genetic counseling for patients is particularly problematic, given evidence that very few reproductive health care providers consider themselves knowledgeable enough to provide the necessary information (Benn et al, 2014; Lindheim et al, 2015). …”

Section: Literature Reviewmentioning

confidence: 99%

Business and Breakthrough: Framing (Expanded) Genetic Carrier Screening for the Public

Holton

Canary

Wong

2016

Health Communication

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A growing body of research has given attention to issues surrounding genetic testing, including expanded carrier screening (ECS), an elective medical test that allows planning or expecting parents to consider the potential occurrence of genetic diseases and disorders in their children. These studies have noted the role of the mass media in driving public perceptions about such testing, giving particular attention to ways in which coverage of genetics and genetic testing broadly may drive public attitudes and choices concerning the morality, legality, ethics, and parental well-being involved in genetic technologies. However, few studies have explored how mass media are covering the newer test, ECS. Drawing on health-related framing studies that have shown in varying degrees the impact particular frames such as gain/loss and thematic/episodic can have on the public, this study examines the frame selection employed by online media in its coverage of ECS. This analysis—combined with an analysis of the sources and topics used in such coverage and how they relate to selected frames—helps to clarify how mass media are covering an increasingly important medical test and offers considerations of how such coverage may inform mass media scholarship as well as health-related practices.

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“…The introduction of Next Generation Sequencing (NGS) platforms has allowed the simultaneous mutation testing for more than a hundred genetic conditions at a comparable cost as when testing mutations in a single gene or a small number of population specific mutations in several genes [55][56][57][58]. In view of the technological advancements the new era of preconception screening is moving fast towards an Expanded Carrier Screening (ECS) approach.…”

Section: Carrier Screening: What Lies Ahead?mentioning

confidence: 99%

Carrier Screening for Cystic Fibrosis: Past, Present and Future

Poulou¹,

Tzetis²

2017

obm genet

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Cystic Fibrosis (CF) is one of the commonest autosomal recessive genetic diseases that show a high carrier frequency amongst Caucasian populations. Although there has been tremendous progress in the available therapies, compared to the past, the disease is still associated with significant morbidity and mortality. Because of the severe clinical manifestations and the shortened life expectancy of patients, population based carrier screening, to identify heterozygous carrier couples at risk of having affected children, has been recommended. We review the history of population based carrier screening for CF, focusing on the screening guidelines, the current requirements and the difficulties of implementation, considering especially the heterogeneity of CF-causing mutations.

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Expanded preconception carrier screening in clinical practice: cutting the Gordian Knot

Cited by 11 publications

References 1 publication

Review of patient decision‐making factors and attitudes regarding preimplantation genetic diagnosis

Review of patient decision‐making factors and attitudes regarding preimplantation genetic diagnosis

Business and Breakthrough: Framing (Expanded) Genetic Carrier Screening for the Public

Carrier Screening for Cystic Fibrosis: Past, Present and Future

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