Reporting practices for unsolicited and secondary findings from next-generation sequencing technologies: Perspectives of laboratory personnel

Human Mutation

Volumn 38, Issue 8, 2017, Pages 905-911

  Vears, Danya F ^a,b   Sénécal, Karine ^c   Borry, Pascal ^a,b  

^a UNIVERSITY OF LEUVEN   (Belgium)

^b KU Leuven   (Belgium)

^c MCGILL UNIVERSITY   (Canada)

Author keywords

bioethics; diagnostic; genetic counseling; genetic testing; genomic sequencing; incidental findings

Indexed keywords

ARTICLE; AUSTRALIA AND NEW ZEALAND; CANADA; EUROPE; GENETIC COUNSELING; GENETIC PROCEDURES; GENETIC VARIATION; HUMAN; INCIDENTAL FINDING; LABORATORY PERSONNEL; NEXT GENERATION SEQUENCING; PRACTICE GUIDELINE; PRIORITY JOURNAL; SECONDARY FINDING; UNSOLICITED FINDING; WHOLE EXOME SEQUENCING; DNA SEQUENCE; GENETIC SCREENING; GENOMICS; HIGH THROUGHPUT SEQUENCING; PROCEDURES; UNITED STATES;

CANADA; EUROPE; GENETIC TESTING; GENOMICS; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; SEQUENCE ANALYSIS, DNA; UNITED STATES;

EID: 85020193448     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.23259     Document Type: Article

References (28)

1. Borry, P., Evers-Kiebooms, G., Cornel, M. C., Clarke, A., & Dierickx, K., Public and Professional Policy Committee (PPPC) of the European Society of Human Genetics (ESHG). (2009). Genetic testing in asymptomatic minors: Background considerations towards ESHG Recommendations. European Journal of Human Genetics, 17(6), 711–719.
2. Borry, P., Goffin, T., Nys, H., & Dierickx, K. (2008). Predictive genetic testing in minors for adult-onset genetic diseases. Mount Sinai Journal of Medicine, 75(3), 287–296.
3. Botkin, J. R., Belmont, J. W., Berg, J. S., Berkman, B. E., Bombard, Y., Holm, I. A., … McInerney, J. D. (2015). Points to consider: Ethical, legal, and psychosocial implications of genetic testing in children and adolescents. American Journal of Human Genetics, 97, 6–21.
4. Boycott, K., Hartley, T., Adam, S., Bernier, F., Chong, K., Fernandez, B. A., … Canadian College of Medical Geneticists. (2015). The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical Geneticists. Journal of Medical Genetics, 52(7), 431–437.
5. British Medical Association Ethics Department. (2012). Medical Ethics Today: The BMA's handbook of ethics and law. West Sussex, UK: Wiley-Blackwell.
6. Burke, W., Antommaria, A. H., Bennett, R., Botkin, J., Clayton, E. W., Henderson, G. E., … Zimmern, R. (2013). Recommendations for returning genomic incidental findings? We need to talk! Genetics in Medicine, 15(11), 854–895.
7. Daack-Hirsch, S., Driessnack, M., Hanish, A., Johnson, V. A., Shah, L. L., Simon, C. M., & Williams, J. K. (2013). 'Information is information': A public perspective on incidental findings in clinical and research genome-based testing. Clinical Genetics, 84(1), 11–18.
8. Downe-Wamboldt, B. (1992). Content analysis: Method, applications, and issues. Health Care for Women International, 13, 313–321.
9. Downing, N. R., Williams, J. K., Daack-Hirsch, S., Driessnack, M., & Simon, C. M. (2013). Genetics specialists’ perspectives on disclosure of genomic incidental findings in the clinical setting. Patient Education and Counseling, 90(1), 133–138.
10. Graneheim, U. H., & Lundman, B. (2004). Qualitative content analysis in nursing research: Concepts, procedures and measures to achieve trustworthiness. Nurse Education Today, 24(2), 105–112.
11. Green, R. C., Berg, J. S., Grody, M. W. W., Kalia, S. S., Korf, B. R., Martin, C. L., … American College of Medical Genetics and Genomics.(2013). ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genetics in Medicine, 15(7), 565–574.
12. Guerreiro, R. J., Brown, R., Dian, D., de Goede, C., Bras, J., & Mole, S. E. (2016). Mutation of TBCK causes a rare recessive developmental disorder. Neurology Genetics, 2(3), e76.
13. Hehir-Kwa, J., Claustres, M., Hastings, R. J., van Ravenswaaij-Arts, C., Christenhusz, G. M., Genuardi, M., … Robinson, P. N. (2015). Towards a European consensus for reporting incidental findings during clinical NGS testing. European Journal of Human Genetics, 23(12), 1601–1606.
14. Hufnagel, S. B., Martin, L. J., Cassedy, A., Hopkin, R. J., & Antommaria, A. H. (2016). Adolescents' preferences regarding disclosure of incidental findings in genomic sequencing that are not medically actionable in childhood. American Journal of Medical Genetics Part A, 170(8), 2033–2038.
15. Kalia, S. S., Adelman, K., Bale, S. J., Chung, W. K., Eng, C., Evans, J. P., … Miller, D. T. (2016). Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): A policy statement of the American College of Medical Genetics and Genomics. Genetics in Medicine, 19(2), 249–255.
16. Kohane, I. S., Masys, D. R., & Altman, R. B. (2006). The incidentalome: A threat to genomic medicine. JAMA, 296(2), 212–215.
17. Lemke, A. A., Bick, D., Dimmock, D., Simpson, P., & Veith, R. (2013). Perspectives of clinical genetics professionals toward genome sequencing and incidental findings: A survey study. Clinical Genetics, 84(3), 230–236.
18. Lohn, Z., Adam, S., Birch, P., Townsend, A., & Friedman, J. (2013). Genetics professionals' perspectives on reporting incidental findings from clinical genome-wide sequencing. American Journal of Medical Genetics Part A, 161A(3), 542–549.
19. Matthijs, G., Souche, E., Alders, M., Corveleyn, A., Eck, S., Feenstra, I., … Bauer, P. (2016). Guidelines for diagnostic next-generation sequencing. European Journal of Human Genetics, 24(1), 2–5.
20. O'Daniel, J. M., McLaughlin, H. M., Amendola, L. M., Bale, S. J., Berg, J. S., Bick, D., … Rehm, H. L. (2016). A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories. Genetics in Medicine, 19(5), 575–582.
21. Rabbani, B., Tekin, M., & Mahdieh, N. (2014). The promise of whole-exome sequencing in medical genetics. Journal of Human Genetics, 59(1), 5–15.
22. Rotunno, M., McMaster, M. L., Boland, J., Bass, S., Zhang, X., Burdett, L., … Goldin, L. R. (2016). Whole exome sequencing in families at high risk for Hodgkin lymphoma: Identification of a predisposing mutation in the KDR gene. Haematologica, 101(7), 853–860.
23. Schamber, L. (2000). Time-line interviews and inductive content analysis: Their effectiveness for exploring cognitive behaviors. Journal of the American Society for Information Science, 51(8), 734–744.
24. Tan, N., Amendola, L. M., O'Daniel, J. M., Burt, A., Horike-Pyne, M. J., Boshe, L., … Jarvik, J. P. (2016). Is "incidental finding" the best term?: A study of patients' preferences. Genetics in Medicine, 19, 176–181.
25. Tetzlaff, M. T., Singh, R. R., Seviour, E. G., Curry, J. L., Hudgens, C. W., Bell, D., … Esmaeli, B. (2016). Next-generation sequencing identifies high frequency of mutations in potentially clinically actionable genes in sebaceous carcinoma. The Journal of Pathology, 240(1), 84–95.
26. van El, C. G., Cornel, M. C., Borry, P., Hastings, R. J., Fellmann, F., Hodgson, S. V., … ESHG Public and Professional Policy Committee. (2013). Whole-genome sequencing in health care: Recommendations of the European Society of Human Genetics. European Journal of Human Genetics, 21(suppl. 1), S1–S5.
27. Yu, J., Crouch, J., Jamal, S. M., Bamshad, M. J., & Tabor, H. K. (2014a). Attitudes of non-African American focus group participants toward return of results from exome and whole genome sequencing. American Journal of Medical Genetics Part A, 164A, 2153–2160.
28. Yu, J., Harrell, T. M., Jamal, S. M., Tabor, H. K., & Bamshad, M. J. (2014b). Attitudes of genetics professionals toward the return of incidental results from exome and whole-genome sequencing. American Journal of Human Genetics, 95, 77–84.