scholarly journals Systematic Design and Comparison of Expanded Carrier Screening Panels

2016 ◽  
Author(s):  
Kyle A. Beauchamp ◽  
Dale Muzzey ◽  
Kenny K. Wong ◽  
Gregory J. Hogan ◽  
Kambiz Karimi ◽  
...  
Keyword(s):  
Fragile X ◽  
Carrier Screening ◽  
Medical Society ◽  
Systematic Design ◽  
Systematic Classification ◽  
Expanded Carrier Screening ◽  
Mendelian Disorders ◽  
High Prevalence ◽  
Two Factors ◽  
Clinical Detection

AbstractPurposeThe recent growth in pan-ethnic expanded carrier screening (ECS) has raised questions about how such panels might be designed and evaluated systematically. Design principles for ECS panels might improve clinical detection of at-risk couples and facilitate objective discussions of panel choice.MethodsGuided by medical-society statements, we propose a method for the design of ECS panels that aims to maximize the aggregate and per-disease sensitivity and specificity across a range of Mendelian disorders considered serious by a systematic classification scheme. We evaluated this method retrospectively using results from 474,644 de-identified carrier screens. We then constructed several idealized panels to highlight strengths and limitations of different ECS methodologies.ResultsBased on modeled fetal risks for “severe” and “profound” diseases, a commercially available ECS panel (Counsyl) is expected to detect 183 affected conceptuses per 100,000 US births. A screen’s sensitivity is greatly impacted by two factors: (1) the methodology used (e.g., full-exon sequencing finds more affected conceptuses than targeted genotyping), and (2) the detection rate of the screen for diseases with high prevalence and complex molecular genetics (e.g., fragile X syndrome).ConclusionThe described approaches allow principled, quantitative evaluation of which diseases and methodologies are appropriate for pan-ethnic expanded carrier screening.

scholarly journals Systematic Classification of Disease Severity for Evaluation of Expanded Carrier Screening Panels

PLoS ONE ◽  
2014 ◽  
Vol 9 (12) ◽  
pp. e114391 ◽  
Author(s):  
Gabriel A. Lazarin ◽  
Felicia Hawthorne ◽  
Nicholas S. Collins ◽  
Elizabeth A. Platt ◽  
Eric A. Evans ◽  
...  
Keyword(s):  
Disease Severity ◽  
Carrier Screening ◽  
Systematic Classification ◽  
Expanded Carrier Screening

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 Systematic design and comparison of expanded carrier screening panels

2017 ◽  
Vol 20 (1) ◽  
pp. 55-63 ◽  
Author(s):  
Kyle A Beauchamp ◽  
Dale Muzzey ◽  
Kenny K Wong ◽  
Gregory J Hogan ◽  
Kambiz Karimi ◽  
...  
Keyword(s):  
Carrier Screening ◽  
Systematic Design ◽  
Expanded Carrier Screening

scholarly journals Couples’ experiences with expanded carrier screening: evaluation of a university hospital screening offer

2021 ◽  
Author(s):  
Ivy van Dijke ◽  
Phillis Lakeman ◽  
Naoual Sabiri ◽  
Hanna Rusticus ◽  
Cecile P. E. Ottenheim ◽  
...  
Keyword(s):  
High Risk ◽  
Medical Center ◽  
Informed Choice ◽  
Carrier Screening ◽  
University Hospital ◽  
Structured Interviews ◽  
Expanded Carrier Screening ◽  
Post Test ◽  
Future Child ◽  
Clinically Significant

AbstractPreconception carrier screening offers couples the possibility to receive information about the risk of having a child with a recessive disorder. Since 2016, an expanded carrier screening (ECS) test for 50 severe autosomal recessive disorders has been available at Amsterdam Medical Center, a Dutch university hospital. This mixed-methods study evaluated the experiences of couples that participated in the carrier screening offer, including high-risk participants, as well as participants with a general population risk. All participants received genetic counselling, and pre- (n = 132) and post-test (n = 86) questionnaires and semi-structured interviews (n = 16) were administered. The most important reason to have ECS was to spare a future child a life with a severe disorder (47%). The majority of survey respondents made an informed decision (86%), as assessed by the Multidimensional Measure of Informed Choice. Among the 86 respondents, 27 individual carriers and no new carrier couples were identified. Turn-around time of the test results was considered too long and costs were perceived as too high. Overall, mean levels of anxiety were not clinically elevated. High-risk respondents (n = 89) and pregnant respondents (n = 13) experienced higher levels of anxiety before testing, which decreased after receiving the test result. Although not clinically significant, distress was on average higher for carriers compared to non-carriers (p < 0.0001). All respondents would opt for the test again, and 80.2% would recommend it to others. The results suggest that ECS should ideally be offered before pregnancy, to minimise anxiety. This study could inform current and future implementation initiatives of preconception ECS.

What women want: General population perspectives and access to preconception expanded carrier screening

2021 ◽  
Author(s):  
Liya Rabkina ◽  
Amy Swanson ◽  
Sharon Aufox ◽  
Lauren Propst ◽  
Morris Fiddler ◽  
...  
Keyword(s):  
General Population ◽  
Carrier Screening ◽  
Expanded Carrier Screening ◽  
Preconception Expanded Carrier Screening

scholarly journals Cross-Study of Malaria Prevalence in History, Bed Net Utilization, and Knowledge about the Disease among Tanzanian College Students

2018 ◽  
Vol 2018 ◽  
pp. 1-5
Author(s):  
Yakobo Nyahoga ◽  
Zanda Bochkaeva
Keyword(s):  
Malaria Prevention ◽  
Cross Sectional Study ◽  
Malaria Prevalence ◽  
Bed Nets ◽  
Bed Net ◽  
Prevention Measures ◽  
Cross Sectional ◽  
University Campuses ◽  
High Prevalence ◽  
Two Factors

University campuses are potential reservoirs of infectious diseases, but they are not in the research focus. It is obvious that the use of malaria preventive tools is extremely necessary in campus conditions in endemic countries. This study is the first malaria survey, conducted in a student campus in Tanzania. This cross-sectional study uncovered a surprisingly high prevalence of malaria history among students: 89,4% of 246 random respondents assume that they had malaria in history, among whom 145 (58,9%) suffered from the disease during the last year. And although students are relatively confident about the vector, parasite, and prevention measures of the disease, only 44,7% of the students use bed nets and 4,5% use a body spray or ointment daily. The others seldom use spray or ointment or do not care about the problem at all. This situation was found to be associated with two factors, financial and educational. Current results show that students are relatively educated on malaria, but they do not follow the malaria prevention guidance. It has become clear that at least proper informational propaganda of bed net use is required in Tanzanian university campuses.

Rapid Fragile X Carrier Screening and Prenatal Diagnosis Using a Nonradioactive PCR Test

1994 ◽  
Vol 49 (4) ◽  
pp. 236-237
Author(s):  
W. Ted Brown ◽  
George E. Houck ◽  
Anna Jeziorowska ◽  
Faye N. Levinson ◽  
Xiaohua Ding ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Fragile X ◽  
Carrier Screening ◽  
Pcr Test

scholarly journals Preconception expanded carrier screening: a focus group study with relatives of mucopolysaccharidosis type III patients and the general population

2021 ◽  
Author(s):  
Thirsa Conijn ◽  
Ivy van Dijke ◽  
Lotte Haverman ◽  
Phillis Lakeman ◽  
Frits A Wijburg ◽  
...  
Keyword(s):  
General Population ◽  
Focus Groups ◽  
Autosomal Recessive Disorder ◽  
Carrier Screening ◽  
Test Results ◽  
Focus Group Study ◽  
Expanded Carrier Screening ◽  
Preconception Expanded Carrier Screening ◽  
Mps Iii ◽  
Prospective Parents

AbstractPreconception expanded carrier screening (ECS) enables prospective parents to assess their risk of having a child with an autosomal recessive disorder. Knowledge on motivations, feelings, and considerations people have towards the offer and use of ECS is limited. To enrich the public and professional discussion on ECS implementation, this study explored the perspectives towards various aspects of ECS in seven focus groups compromising first- and second-degree relatives of MPS III patients (N=9, N=4, N=5, N=5) and members of the general Dutch population (N=6, N=7, N=5). The focus groups were audio recorded and the transcripts were qualitatively analyzed to identify themes. Both relatives of MPS III patients and participants from the general population supported offering ECS, in particular for severe, childhood-onset disorders. Important barriers identified for ECS were a lack of genetic knowledge and a perceived lack of personal relevance and awareness, as well as out-of-pocket costs of testing. The majority of participants would prefer full disclosure of individual test results instead of couple-based test results. Moreover, offering people a choice for the way of reporting was proposed. All participants agreed that more efforts, for example by governmental campaigns, should be made to increase awareness on the availability, potentials, and limitations of ECS. Educating prospective parents about ECS is essential for increasing awareness and informed decision making. This study provides valuable insights that can be used by governments and public health authorities when considering implementation of preconception ECS.

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