Physicians’ perceived usefulness of and satisfaction with test reports for cystic fibrosis (ΔF508) and factor V Leiden

Krousel‐Wood, Marie; Andersson, Hans; Rice, Janet C.; Jackson, Kelly E.; Rosner, E. R.; Lubin, Ira M.

doi:10.1097/01.gim.0000066797.05220.85

Cited by 15 publications

(11 citation statements)

References 6 publications

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“…Prior to determining whether to report genetic research results, the usefulness and applicability of genetic tests results should be evaluated for their analytical validity, clinical validity, clinical utility and ethical, legal and social implications [Burke et al, 2002; Krousel‐Wood et al, 2003. Analytical validity requires analytical sensitivity (probability that a test will be positive when the genetic variant is present) and analytical specificity (probability that a test will be negative when the variant is absent).…”

Section: Evaluation Criteria For Genetic Testingmentioning

confidence: 99%

Reporting genetic results in research studies: Summary and recommendations of an NHLBI working group

Bookman

Langehorne

Eckfeldt

et al. 2006

American J of Med Genetics Pt A

192

224

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Prospective epidemiologic studies aid in identifying genetic variants associated with diseases, health risks, and physiologic traits. These genetic variants may eventually be measured clinically for purposes of diagnosis, prognosis, and treatment. As evidence of the potential clinical value of such information accrues, research studies face growing pressure to report these results to study participants or their physicians, even before sufficient evidence is available to support widespread screening of asymptomatic persons. There is thus a need to begin to develop consensus on whether and when genetic findings should be reported to participants in research studies. The National Heart, Lung, and Blood Institute (NHLBI) convened a Working Group on Reporting Genetic Results in Research Studies to discuss if, when, and how genetic information should be reported to study participants. The Working Group concluded that genetic test results should be reported to study participants when the associated risk for the disease is significant; the disease has important health implications such as premature death or substantial morbidity or has significant reproductive implications; and proven therapeutic or preventive interventions are available. Finally, the Working Group recommended procedures for reporting genetic research results and encouraged increased efforts to create uniform guidelines for this activity.

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Section: Evaluation Criteria For Genetic Testingmentioning

confidence: 99%

Reporting genetic results in research studies: Summary and recommendations of an NHLBI working group

Bookman

Langehorne

Eckfeldt

et al. 2006

American J of Med Genetics Pt A

192

224

View full text Add to dashboard Cite

show abstract

“…Routine testing for genetic conditions such as phenylketonuria has been a part of clinical care since the 1960s, and today many general practitioners have at least some experience with targeted genetic testing for conditions such as cystic fibrosis, hemochromatosis and factor V Leiden thrombophilia [4–6]. However, the sequencing of the human genome in 2003 enabled genome-wide analyses of unprecedented scope and resolution, such that most variation in the human genome can now be analyzed with a single test.…”

mentioning

confidence: 99%

‘Someday it will be the Norm’: Physician Perspectives on the Utility of Genome Sequencing for Patient Care in the Medseqproject

et al. 2015

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Aim To describe practicing physicians’ perceived clinical utility of genome sequencing. Materials & methods We conducted a mixed-methods analysis of data from 18 primary care physicians and cardiologists in a study of the clinical integration of whole-genome sequencing. Physicians underwent brief genomics continuing medical education before completing surveys and semi-structured interviews. Results Physicians described sequencing as currently lacking clinical utility because of its uncertain interpretation and limited impact on clinical decision-making, but they expressed the idea that its clinical integration was inevitable. Potential clinical uses for sequencing included complementing other clinical information, risk stratification, motivating patient behavior change and pharmacogenetics. Conclusion Physicians given genomics continuing medical education use the language of both evidence-based and personalized medicine in describing the utility of genome-wide testing in patient care.

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“…Previous reports of laboratory practices in the area of genetic testing, especially those including questions about DTC services and quality of reporting, were used as a starting point to develop survey questions [17][18][19] . We created data collection forms to systematically abstract information from each Web site.…”

Section: Evaluation Of Web Site Practicesmentioning

confidence: 99%

Health-Related Direct-to-Consumer Genetic Tests: A Public Health Assessment and Analysis of Practices Related to Internet-Based Tests for Risk of Thrombosis

Goddard

Robitaille

Dowling

et al. 2008

Public Health Genomics

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complete and had low agreement with professional recommendations. Conclusion: Our findings document the rapid growth in the availability of health-related DTC genetic tests and highlight the need to improve the delivery of DTC genetic tests. A major implication of this study is the need for the scientific and medical community to develop consistent recommendations to increase their impact. Copyright © 2008 S. Karger AG, Basel Direct-to-consumer (DTC) genetic testing is the sale and use of genetic tests without the involvement of a health care provider. This activity has recently gained the attention of many professional organizations [1][2][3] . Some of the concerns fueling the growing debate about DTC genetic tests [4][5][6][7] are the perception of rapid increases in their availability over the Internet and the sale of questionable products that have received widespread atten- Key WordsDirect access testing ؒ Factor V Leiden ؒ Nutrigenomics ؒ Pharmacogenomics Abstract Background: Recent years have seen increased concern about direct-to-consumer (DTC) genetic testing (i.e., the sale and use of genetic tests without involving a health care provider). Numerous professional organizations have developed policies in this area. However, little systematic evidence exists to inform public policy about these tests. Methods: We conducted a systematic search to identify genetic tests that are sold DTC without involving a health care provider. We evaluated the practices of companies offering DTC genetic tests for risk of thrombosis using criteria from multiple sources and a minimal set of key practices. Results: We identified 84 instances of currently available health-related DTC genetic tests sold on 27 Web sites; the most common were for pharmacogenomics (12), risk of thrombosis (10), and nutrigenomics (10). For the DTC genetic tests for risk of thrombosis, we found low adherence to recommendations. Online information was frequently in-

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Physicians’ perceived usefulness of and satisfaction with test reports for cystic fibrosis (ΔF508) and factor V Leiden

Cited by 15 publications

References 6 publications

Reporting genetic results in research studies: Summary and recommendations of an NHLBI working group

Reporting genetic results in research studies: Summary and recommendations of an NHLBI working group

‘Someday it will be the Norm’: Physician Perspectives on the Utility of Genome Sequencing for Patient Care in the Medseqproject

Health-Related Direct-to-Consumer Genetic Tests: A Public Health Assessment and Analysis of Practices Related to Internet-Based Tests for Risk of Thrombosis

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