scholarly journals Clinical Utility of Expanded Carrier Screening: Reproductive Behaviors of At-Risk Couples

2016 ◽  
Author(s):  
Caroline Ghiossi ◽  
James D. Goldberg ◽  
Imran S. Haque ◽  
Gabriel A. Lazarin ◽  
Kenny K. Wong
Keyword(s):  
Decision Making ◽  
At Risk ◽  
Clinical Utility ◽  
Carrier Screening ◽  
Reproductive Behaviors ◽  
Reproductive Risk ◽  
Expanded Carrier Screening ◽  
Reproductive Decision Making ◽  
Recessive Genes ◽  
Professional Guidelines

ABSTRACTPurposeExpanded carrier screening (ECS) analyzes dozens or hundreds of recessive genes for determining reproductive risk. Data on clinical utility of screening conditions beyond professional guidelines is scarce.MethodsIndividuals underwent ECS for up to 110 genes. 537 at-risk couples (ARC), those in which both partners carry the same recessive disease, were invited to a retrospective IRB-approved survey of their reproductive decision making after receiving ECS results.Results64 eligible ARC completed the survey. Of 45 respondents screened preconceptionally, 62% (n=28) planned IVF with PGD or prenatal diagnosis (PNDx) in future pregnancies. 29% (n=13) were not planning to alter reproductive decisions. The remaining 9% (n=4) of responses were unclear.Of 19 pregnant respondents, 42% (n=8) elected PNDx, 11% (n=2) planned amniocentesis but miscarried, and 47% (n=9) considered the condition insufficiently severe to warrant invasive testing. Of the 8 pregnancies that underwent PNDx, 5 were unaffected and 3 were affected. 2 of 3 affected pregnancies were terminated.Disease severity was found to have significant association (p=0.000145) with changes in decision making, whereas guideline status of diseases, controlled for severity, was not (p=0.284).ConclusionMost ARC altered reproductive planning, demonstrating the clinical utility of ECS. Severity of conditions factored into decision making.

scholarly journals Clinical utility of expanded carrier screening: reproductive behaviors of at-risk couples

2016 ◽  
Vol 106 (3) ◽  
pp. e373
Author(s):  
K.K. Wong ◽  
K. Ready ◽  
C. Lieber ◽  
J.D. Goldberg ◽  
I.S. Haque ◽  
...  
Keyword(s):  
At Risk ◽  
Clinical Utility ◽  
Carrier Screening ◽  
Reproductive Behaviors ◽  
Expanded Carrier Screening

scholarly journals Clinical Utility of Expanded Carrier Screening: Reproductive Behaviors of At-Risk Couples

2017 ◽  
Vol 27 (3) ◽  
pp. 616-625 ◽  
Author(s):  
Caroline E. Ghiossi ◽  
James D. Goldberg ◽  
Imran S. Haque ◽  
Gabriel A. Lazarin ◽  
Kenny K. Wong
Keyword(s):  
At Risk ◽  
Clinical Utility ◽  
Carrier Screening ◽  
Reproductive Behaviors ◽  
Expanded Carrier Screening

scholarly journals Clinical Utility of Expanded Carrier Screening: Results-Guided Actionability and Outcomes

2018 ◽  
Author(s):  
Katherine Johansen Taber ◽  
Kyle A. Beauchamp ◽  
Gabriel Lazarin ◽  
Dale Muzzey ◽  
Aishwarya Arjunan ◽  
...  
Keyword(s):  
Clinical Utility ◽  
Diagnostic Testing ◽  
Carrier Screening ◽  
Limited Data ◽  
Affected Offspring ◽  
Expanded Carrier Screening ◽  
Prenatal Diagnostic ◽  
Reproductive Decision Making ◽  
The Impact ◽  
Prenatal Diagnostic Testing

Purpose: Expanded carrier screening (ECS) informs couples of their risk of having offspring affected by certain genetic conditions. Limited data exists assessing the actions and reproductive outcomes of at-risk couples (ARCs). We describe the impact of ECS on planned and actual pregnancy management in the largest sample of ARCs studied to date. Methods: Couples who elected ECS and were found to be at high risk of having a pregnancy affected by at least one of 176 genetic conditions were invited to complete a survey about their actions and pregnancy management. Results: Three hundred ninety-one ARCs completed the survey. Among those screened before becoming pregnant, 77% planned or pursued actions to avoid having affected offspring. Among those screened during pregnancy, 37% elected prenatal diagnostic testing (PNDx) for that pregnancy. In subsequent pregnancies that occurred in both the preconception and prenatal screening groups, PNDx was pursued in 29%. The decision to decline PNDx was most frequently based on the fear of procedure-related miscarriage, as well as the belief that termination would not be pursued in the event of a positive diagnosis. Conclusions: ECS results impacted couples’ reproductive decision-making and led to altered pregnancy management that effectively eliminates the risk of having affected offspring.

scholarly journals A Data-Driven Evaluation of the Size and Content of Expanded Carrier Screening Panels

2018 ◽  
Author(s):  
Rotem Ben-Shachar ◽  
Svenson MS Ashley ◽  
James D. Goldberg ◽  
Dale Muzzey
Keyword(s):  
At Risk ◽  
Detection Rate ◽  
Carrier Screening ◽  
Data Driven ◽  
Carrier Rate ◽  
Expanded Carrier Screening ◽  
Clinical Detection ◽  
The Impact ◽  
Variable Impact ◽  
Panel Design

ABSTRACTPurposeThe American College of Obstetricians and Gynecologists (ACOG) proposed seven criteria for expanded carrier screening (ECS) panel design. To ensure that screening for a condition is sufficiently sensitive to identify carriers and reduce residual risk of non-carriers, one criterion requires a per-condition carrier rate greater than 1-in-100. However, it is unestablished whether this threshold corresponds with a loss in clinical detection. The impact of the proposed panel-design criteria on at-risk couple detection warrants data-driven evaluation.MethodsCarrier rates and at-risk couple rates were calculated in 56,281 patients who underwent a 176-condition ECS and evaluated for panels satisfying various criteria. Condition-specific clinical detection rate was estimated via simulation.ResultsDifferent interpretations of the 1-in-100 criterion have variable impact: a compliant panel would include between 3 and 38 conditions, identify 11%-81% fewer at-risk couples, and detect 36%-79% fewer carriers than a 176-condition panel. If the carrier-rate threshold must be exceeded in all ethnicities, ECS panels would lack prevalent conditions like cystic fibrosis. Simulations suggest that clinical detection rate remains >84% for conditions with carrier rates as low as 1-in-1000.ConclusionsThe 1-in-100 criterion limits at-risk couple detection and should be reconsidered.

scholarly journals EXPANDED CARRIER SCREENING AND CLINICAL DECISION MAKING IN 2020

2021 ◽  
Vol 116 (3) ◽  
pp. e386
Author(s):  
Amalia Namath ◽  
Kate Devine ◽  
Jason Bromer ◽  
Jeanne E. O'Brien
Keyword(s):  
Decision Making ◽  
Clinical Decision Making ◽  
Clinical Decision ◽  
Carrier Screening ◽  
Expanded Carrier Screening

scholarly journals Qualitative study of GPs’ views and experiences of population-based preconception expanded carrier screening in the Netherlands: bioethical perspectives

BMJ Open ◽  
2021 ◽  
Vol 11 (12) ◽  
pp. e056869
Author(s):  
Sofia Morberg Jämterud ◽  
Anke Snoek ◽  
I M van Langen ◽  
Marian Verkerk ◽  
Kristin Zeiler
Keyword(s):  
Decision Making ◽  
The Netherlands ◽  
Thematic Analysis ◽  
Population Based ◽  
Carrier Screening ◽  
Empirical Bioethics ◽  
Expanded Carrier Screening ◽  
Autonomous Decision ◽  
Preconception Expanded Carrier Screening ◽  
Existential Issues

ObjectiveBetween 2016 and 2017, a population-based preconception expanded carrier screening (PECS) test was developed in the Netherlands during a pilot study. It was subsequently made possible in mid-2018 for couples to ask to have such a PECS test from specially trained general practitioners (GPs). Research has described GPs as crucial in offering PECS tests, but little is known about the GPs’ views on PECS and their experiences of providing this test. This article presents a thematic analysis of the PECS practice from the perspective of GPs and a bioethical discussion of the empirical results.DesignEmpirical bioethics. A thematic analysis of qualitative semi-structured interviews was conducted, and is combined with an ethical/philosophical discussion.SettingThe Netherlands.Participants7 Dutch GPs in the Netherlands, interviewed in 2019–2020.ResultsTwo themes were identified in the thematic analysis: ‘Choice and its complexity’ and ‘PECS as prompting existential concerns’. The empirical bioethics discussion showed that the first theme highlights that several areas coshape the complexity of choice on PECS, and the need for shared relational autonomous decision-making on these areas within the couple. The second theme highlights that it is not possible to analyse the existential issues raised by PECS solely on the level of the couple or family. A societal level must be included, since these levels affect each other. We refer to this as ‘entangled existential genetics’.ConclusionThe empirical bioethical analysis leads us to present two practical implications. These are: (1) training of GPs who are to offer PECS should cover shared relational autonomous decision-making within the couple and (2) more attention should be given to existential issues evoked by genetic considerations, also during the education of GPs and in bioethical discussions around PECS.

Clinical Utility of Expanded Carrier Screening

2019 ◽  
Vol 74 (10) ◽  
pp. 582-584
Author(s):  
Katherine A. Johansen Taber ◽  
Kyle A. Beauchamp ◽  
Gabriel A. Lazarin ◽  
Dale Muzzey ◽  
Aishwarya Arjunan ◽  
...  
Keyword(s):  
Clinical Utility ◽  
Carrier Screening ◽  
Expanded Carrier Screening

scholarly journals Clinical utility of expanded carrier screening: results-guided actionability and outcomes

2018 ◽  
Vol 21 (5) ◽  
pp. 1041-1048 ◽  
Author(s):  
Katherine A. Johansen Taber ◽  
Kyle A. Beauchamp ◽  
Gabriel A. Lazarin ◽  
Dale Muzzey ◽  
Aishwarya Arjunan ◽  
...  
Keyword(s):  
Clinical Utility ◽  
Carrier Screening ◽  
Expanded Carrier Screening
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