Expanded carrier screening panels—does bigger mean better?

Wienke, Sara; Brown, Katelyn; Farmer, Meagan; Strange, Charlie

doi:10.1007/s12687-013-0169-6

Cited by 42 publications

(38 citation statements)

References 33 publications

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“…18 Pros of Screening: Can identify those at risk for neonatal liver disease and avoid extensive workup and modify care. The risk of development of chronic obstructive pulmonary disease in an affected adult can be modified by avoiding inhalation of irritants including cigarette smoke.…”

Section: Appendix 1: Glossary Variantsmentioning

confidence: 99%

Expanded Carrier Screening in Reproductive Medicine—Points to Consider

Edwards

Feldman

Goldberg

et al. 2015

Obstetrics &Amp; Gynecology

320

220

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The Perinatal Quality Foundation and the American College of Medical Genetics and Genomics, in association with the American College of Obstetricians and Gynecologists, the Society for Maternal-Fetal Medicine, and the National Society of Genetic Counselors, have collaborated to provide education for clinicians and laboratories regarding the use of expanded genetic carrier screening in reproductive medicine. This statement does not replace current screening guidelines, which are published by individual organizations to direct the practice of their constituents. As organizations develop practice guidelines for expanded carrier screening, further direction is likely. The current statement demonstrates an approach for health care providers and laboratories who wish to or who are currently offering expanded carrier screening to their patients.

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Section: Appendix 1: Glossary Variantsmentioning

confidence: 99%

Expanded Carrier Screening in Reproductive Medicine—Points to Consider

Edwards

Feldman

Goldberg

et al. 2015

Obstetrics &Amp; Gynecology

320

220

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“…Recent advancements in technology enable screening of more than 100 diseases and disorders, allowing individuals and couples to determine their risk of passing on genes while planning possible alternatives, such as in vitro fertilization or adoption, to reduce risks (Srinivasan et al, 2010; Wienke, Brown, Farmer, & Strange, 2014). Despite these advancements, little is known about how knowledge and perceptions about ECS are developed.…”

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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“…As the cost of sequencing decreases, expanded carrier screening, defined as simultaneously screening for a large number of genetic variants, is expected to be available to an increasing number of patients . Carrier screening is used to identify a patient or couple's likelihood of passing on a genetic condition to their child and has historically targeted specific subpopulations of individuals who are at increased risk of specific genetic conditions, but it is becoming more common to offer screening for a limited number of conditions to the general preconception and prenatal patient populations . As costs decrease for expanded carrier screening, there will likely be more couples receiving such screening.…”

Section: Introductionmentioning

confidence: 99%

Patient actions and reactions after receiving negative results from expanded carrier screening

et al. 2018

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With the expansion of carrier screening to general preconception and prenatal patient populations, most patients will receive negative results, which we define as indicating <25% risk of having a child with a genetic condition. Because there is limited experience with expanded carrier screening, it is important to understand how receiving negative results affects patients, especially as providers, payers, and policymakers consider whether to offer it. In this mixed-methods study, we asked preconception patients enrolled in the NextGen study about their expectations and experiences receiving negative expanded carrier screening results. Participants completed surveys at study enrollment (n=110 women, 51 male partners), after receiving carrier results (n=100 women, 38 male partners), after receiving secondary findings (n=98 women, 36 male partners), and 6 months after receiving results (n=95 women, 28 male partners). We also interviewed a subset of participants 12–24 months after receiving results (n=24 women, 12 male partners). We found minimal negative emotional impact and privacy concerns, increased confidence in reproductive plans, and few changes to health behaviors, although some patients made health decisions based on misunderstandings of their results. These findings suggest that expanded carrier screening causes minimal psychosocial harms, but systems are needed to reduce the risk of misinterpreting results.

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Expanded carrier screening panels—does bigger mean better?

Cited by 42 publications

References 33 publications

Expanded Carrier Screening in Reproductive Medicine—Points to Consider

Expanded Carrier Screening in Reproductive Medicine—Points to Consider

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

Patient actions and reactions after receiving negative results from expanded carrier screening

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