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

Lazarin, Gabriel A.; Hawthorne, Felicia; Collins, Nicholas S.; Platt, E; Evans, E. Edward; Haque, Imran S.

doi:10.1371/journal.pone.0114391

Cited by 119 publications

(137 citation statements)

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“…Despite its significance, however, the notion of “seriousness” remains a nebulous and poorly defined concept, in relation to both whole genome and exome sequencing (Korngiebel et al, ; Nuffield Council on Bioethics ; Sapp et al, ), but also genomic screening (Lazarin et al, ; Leo et al, ; Molster et al, ), with calls for more systematic guidelines on the classification of different genetic disorders along this dimension (Ceyhan‐Bisroy et al, ; Crouch, ).…”

Section: Discussionmentioning

confidence: 99%

Responsibility, identity, and genomic sequencing: A comparison of published recommendations and patient perspectives on accepting or declining incidental findings

Boardman

Hale

2018

Molec Gen & Gen Med

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BackgroundThe use of genomic sequencing techniques is increasingly being incorporated into mainstream health care. However, there is a lack of agreement on how “incidental findings” (IFs) should be managed and a dearth of research on patient perspectives.MethodsIn‐depth qualitative interviews were carried out with 31 patients undergoing genomic sequencing at a regional genetics service in England. Interviews explored decisions around IFs and were comparatively analyzed with published recommendations from the literature.ResultsThirteen participants opted to receive all IFs from their sequence, 12 accepted some and rejected others, while six participants refused all IFs. The key areas from the literature, (a) genotype/phenotype correlation, (b) seriousness of the condition, and (c) implications for biological relatives, were all significant; however, patients drew on a broader range of social and cultural information to make their decisions.ConclusionThis study highlights the range of costs and benefits for patients of receiving IFs from a genomic sequence. While largely positive views toward the dissemination of genomic data were reported, ambivalence surrounding genetic responsibility and its associated behaviors (e.g., duty to inform relatives) was reported by both IF decliners and accepters, suggesting a need to further explore patient perspectives on this highly complex topic area.

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Section: Discussionmentioning

confidence: 99%

Responsibility, identity, and genomic sequencing: A comparison of published recommendations and patient perspectives on accepting or declining incidental findings

Boardman

Hale

2018

Molec Gen & Gen Med

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“…The diseases included on the screening panel were selected by the laboratory based on disease severity, actionability, prevalence, and ability to reliably identify carriers [16, 17]. Pathogenicity of variants was determined by the laboratory according to ACMG guidelines [17].…”

Section: Methodsmentioning

confidence: 99%

Implementation of a Carrier Screening Program in a High-Risk Undergraduate Student Population Using Digital Marketing, Online Education, and Telehealth

Hardy

Kener

Grinzaid

2018

Public Health Genomics

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Background/Aims: Access to preconception carrier screening, which provides at-risk couples with more reproductive options, is critically important. To address this need in the Jewish community, genetic counselors at Emory University launched JScreen (www.jscreen.org), a national online genetic disease education and carrier screening program. To reach the preconception demographic, JScreen initiated a study evaluating the impact of marketing and education on knowledge and screening activity on college campuses. Methods: Students at 10 universities were targeted with a marketing campaign designed for this initiative. Those who elected screening were provided pre-test video education designed for the study. Success was assessed through enrollment in testing, comparison of pre- and post-education knowledge quizzes, and patient satisfaction surveys evaluating genetic counseling and the JScreen process. Results: A total of 1,794 participants were enrolled. Over 99% of those screened were not pregnant. Knowledge quiz scores improved significantly post-education, and patient satisfaction was over 98%. Conclusions: Findings suggested that the use of targeted marketing helped promote preconception screening in this population. The study demonstrated that video education was effective in educating participants about benefits and limitations of testing. Also, the use of telehealth technology facilitated access to professional genetic counseling services. This study serves as a model for future public health initiatives.

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“…Conditions included in the ECS panel range in severity. A method for severity classification divided diseases into four groups, from most to least impactful: profound, severe, moderate, and mild 15 . In this classification algorithm, disease characteristics are organized into .…”

Section: Eligibility Criteriamentioning

confidence: 99%

“…http://dx.doi.org/10.1101/069393 doi: bioRxiv preprint first posted online Aug. 14, 2016; tiers based on their impact to the affected individual. Severity is assigned to a disease based a combination of the number of characteristics present in disease, and the tier ranking of those characteristics 15 .…”

Section: Eligibility Criteriamentioning

confidence: 99%

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

Goldberg¹,

Haque²,

Lazarin³

et al. 2016

Preprint

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Purpose:Expanded 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. Methods:Individuals 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. Results:64 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). Conclusion:Most ARC altered reproductive planning, demonstrating the clinical utility of ECS. Severity of conditions factored into decision making.

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

Cited by 119 publications

References 10 publications

Responsibility, identity, and genomic sequencing: A comparison of published recommendations and patient perspectives on accepting or declining incidental findings

Responsibility, identity, and genomic sequencing: A comparison of published recommendations and patient perspectives on accepting or declining incidental findings

Implementation of a Carrier Screening Program in a High-Risk Undergraduate Student Population Using Digital Marketing, Online Education, and Telehealth

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

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