Clinical and Counseling Experiences of Early Adopters of Whole Exome Sequencing

Journal of Genetic Counseling

Volumn 25, Issue 2, 2016, Pages 337-343

  Arora, Shubhangi ^a   Haverfield, Eden ^b   Richard, Gabriele ^b   Haga, Susanne B ^a   Mills, Rachel ^a  

^a DUKE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b GENEDX   (United States)

Author keywords

Genetic counseling; Whole exome sequencing

Indexed keywords

ADULT; CERTIFICATION; EXOME; FEMALE; GENETIC COUNSELING; GENETICS; GENOME-WIDE ASSOCIATION STUDY; HEALTH PERSONNEL ATTITUDE; HEALTH SURVEY; HUMAN; MALE; MEDICINE; MIDDLE AGED; PATIENT EDUCATION; PSYCHOLOGY;

ADULT; ATTITUDE OF HEALTH PERSONNEL; EXOME; FEMALE; GENETIC COUNSELING; GENOME-WIDE ASSOCIATION STUDY; HEALTH SURVEYS; HUMANS; MALE; MEDICINE; MIDDLE AGED; PATIENT EDUCATION AS TOPIC; SPECIALTY BOARDS;

EID: 84961197717     PISSN: 10597700     EISSN: 15733599     Source Type: Journal    
DOI: 10.1007/s10897-015-9876-y     Document Type: Article

References (25)

1. ACMG Board of Directors. (2013). Points to consider for informed consent for genome/exome sequencing. Genetics in Medicine, 15(9), 748–749. doi:10.1038/gim.2013.94.
2. Ashley, E. A., Butte, A. J., Wheeler, M. T., Chen, R., Klein, T. E., Dewey, F. E., Dudley, J. T., Ormond, K. E., Pavlovic, A., Morgan, A. A., Pushkarev, D., Neff, N. F., Hudgins, L., Gong, L., Hodges, L. M., Berlin, D. S., Thorn, C. F., Sangkuhl, K., Hebert, J. M., Woon, M., Sagreiya, H., Whaley, R., Knowles, J. W., Chou, M. F., Thakuria, J. V., Rosenbaum, A. M., Zaranek, A. W., Church, G. M., Greely, H. T., Quake, S., & Altman, R. B. (2010). Clinical assessment incorporating a personal genome. Lancet, 375(9725), 1525–1535. doi:10.1016/S0140-6736(10)60452-7.
3. Atwal, P. S., Brennan, M. L., Cox, R., Niaki, M., Platt, J., Homeyer, M., Kwan, A., Parkin, S., Schelley, S., Slattery, L., Wilnai, Y., Bernstein, J. A., Enns, G. M., & Hudgins, L. (2014). Clinical whole-exome sequencing: are we there yet? Genetics in Medicine. doi:10.1038/gim.2014.10.
4. Berg, J. S., Khoury, M. J., & Evans, J. P. (2011). Deploying whole genome sequencing in clinical practice and public health: meeting the challenge one bin at a time. Genetics in Medicine, 13(6), 499–504. doi:10.1097/GIM.0b013e318220aaba.
5. Biesecker, L. G., & Green, R. C. (2014). Diagnostic clinical genome and exome sequencing. New England Journal of Medicine, 370(25), 2418–2425. doi:10.1056/NEJMra1312543.
6. Choi, M., Scholl, U. I., Ji, W., Liu, T., Tikhonova, I. R., Zumbo, P., Nayirc, A., Bakkaloğlud, A., Özend, S., Sanjade, S., Nelson-Williamsa, C., Farhia, A., Mane, S., & Lifton, R. P. (2009). Genetic diagnosis by whole exome capture and massively parallel DNA sequencing. Proceedings of the National Academy of Sciences of the United States of America, 106(45), 19096–19101. doi:10.1073/pnas.0910672106.
7. Dewey, F. E., Grove, M. E., Pan, C., Goldstein, B. A., Bernstein, J. A., Chaib, H., Merker, J. D., Goldfeder, R. L., Enns, G. M., David, S. P., Pakdaman, N., Ormond, K. E., Caleshu, C., Kingham, K., Klein, T. E., Whirl-Carrillo, M., Sakamoto, K., Wheeler, M. T., Butte, A. J., Ford, J. M., Boxer, L., Ioannidis, J. P., Yeung, A. C., Altman, R. B., Assimes, T. L., Snyder, M., Ashley, E. A., & Quertermous, T. (2014). Clinical interpretation and implications of whole-genome sequencing. JAMA, 311(10), 1035–1045. doi:10.1001/jama.2014.1717.
8. Farwell, K. D., Shahmirzadi, L., El-Khechen, D., Powis, Z., Chao, E. C., Davis, B. T., Baxter, R. M., Zeng, W., Mroske, C., Parra, M. C., Gandomi, S. K., Lu, I., Li, X., Lu, H., Lu, H. M., Salvador, D., Ruble, D., Lao, M., Fischbach, S., Wen, J., Lee, S., Elliott, A., Dunlop, C. L., & Tang, S. (2014). Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions. Genetics in Medicine. doi:10.1038/gim.2014.154.
9. Jacob, H. J., Abrams, K., Bick, D. P., Brodie, K., Dimmock, D. P., Farrell, M., Geurts, J., Harris, J., Helbling, D., Joers, B. J., Kliegman, R., Kowalski, G., Lazar, J., Margolis, D. A., North, P., Northup, J., Roquemore-Goins, A., Scharer, G., Shimoyama, M., Strong, K., Taylor, B., Tsaih, S. W., Tschannen, M. R., Veith, R. L., Wendt-Andrae, J., Wilk, B., & Worthey, E. A. (2013). Genomics in clinical practice: lessons from the front lines. Science Translational Medicine, 5(194), 194cm195. doi:10.1126/scitranslmed.3006468.
10. Johansen Taber, K. A., Dickinson, B. D., & Wilson, M. (2014). The promise and challenges of next-generation genome sequencing for clinical care. JAMA Internal Medicine, 174(2), 275–280. doi:10.1001/jamainternmed.2013.12048.
11. Ku, C. S., Naidoo, N., & Pawitan, Y. (2011). Revisiting Mendelian disorders through exome sequencing. Human Genetics, 129(4), 351–370. doi:10.1007/s00439-011-0964-2.
12. Lee, H., Deignan, J. L., Dorrani, N., Strom, S. P., Kantarci, S., Quintero-Rivera, F., Das, K., Toy, T., Harry, B., Yourshaw, M., Fox, M., Fogel, B. L., Martinez-Agosto, J. A., Wong, D. A., Chang, V. Y., Shieh, P. B., Palmer, C. G., Dipple, K. M., Grody, W. W., Vilain, E., & Nelson, S. F. (2014). Clinical exome sequencing for genetic identification of rare Mendelian disorders. JAMA. doi:10.1001/jama.2014.14604.
13. Machini, K., Douglas, J., Braxton, A., Tsipis, J., & Kramer, K. (2014). Genetic counselors’ views and experiences with the clinical integration of genome sequencing. Journal of Genetic Counseling. doi:10.1007/s10897-014-9709-4.
14. McCarthy, J. J., McLeod, H. L., & Ginsburg, G. S. (2013). Genomic medicine: a decade of successes, challenges, and opportunities. Science Translational Medicine, 5(189), 189sr184. doi:10.1126/scitranslmed.3005785.
15. McPherson, E., Zaleski, C., Benishek, K., McCarty, C. A., Giampietro, P. F., Reynolds, K., & Rasmussen, K. (2008). Clinical genetics provider real-time workflow study. Genetics in Medicine, 10(9), 699–706. doi:10.1097/GIM.0b013e318182206f.
16. Neidich, J., Scacheri, C., Bale, S., Retterer, K., Smaoui, N., Vitazka, P.,.. Haverfield, E. (2014). Diagnostic laboratory experience with clinical exome sequencing: 788 probands over one year. Annual ACMG Clinical Genetics Meeting, Abstrac 567.
17. NSGC. (2013). Incidental findings in genetic testing. http://nsgc.org/p/bl/et/blogid=47&blogaid=30.
18. Pritzlaff, M., Yorczyk, A., Robinson, L. S., Pirzadeh-Miller, S., Lin, T., Euhus, D., & Ross, T. S. (2014). An internal performance assessment of CancerGene Connect: an electronic tool to streamline, measure and improve the genetic counseling process. Journal of Genetic Counseling, 23(6), 1034–1044. doi:10.1007/s10897-014-9732-5.
19. Sobol, H., Bignon, Y. J., Bonaiti, C., Cuisenier, J., Lasset, C., Lortholary, A., Noguès, C., Stoppa-Lyonnet, D., & Eisinger, F. (1999). Four years analysis of cancer genetic clinics activity in France from 1994 to 1997: a survey on 801 patients. French Cooperative Network/Groupe Genetique et Cancer de la Federation Nationale des Centres de Lutte Contre le Cancer. Disease Markers, 15(1–3), 15–29.
20. Strom, S. P., Lee, H., Das, K., Vilain, E., Nelson, S. F., Grody, W. W., & Deignan, J. L. (2014). Assessing the necessity of confirmatory testing for exome-sequencing results in a clinical molecular diagnostic laboratory. Genetics in Medicine, 16(7), 510–515. doi:10.1038/gim.2013.183.
21. Taylor, J. C., Martin, H. C., Lise, S., Broxholme, J., Cazier, J. B., Rimmer, A., Kanapin, A., Lunter, G., Fiddy, S., Allan, C., Aricescu, A. R., Attar, M., Babbs, C., Becq, J., Beeson, D., Bento, C., Bignell, P., Blair, E., Buckle, V. J., Bull, K., Cais, O., Cario, H., Chapel, H., Copley, R. R., Cornall, R., Craft, J., Dahan, K., Davenport, E. E., Dendrou, C., Devuyst, O., Fenwick, A. L., Flint, J., Fugger, L., Gilbert, R. D., Goriely, A., Green, A., Greger, I. H., Grocock, R., Gruszczyk, A. V., Hastings, R., Hatton, E., Higgs, D., Hill, A., Holmes, C., Howard, M., Hughes, L., Humburg, P., Johnson, D., Karpe, F., Kingsbury, Z., Kini, U., Knight, J. C., Krohn, J., Lamble, S., Langman, C., Lonie, L., Luck, J., McCarthy, D., McGowan, S. J., McMullin, M. F., Miller, K. A., Murray, L., Németh, A. H., Nesbit, M. A., Nutt, D., Ormondroyd, E., Oturai, A. B., Pagnamenta, A., Patel, S. Y., Percy, M., Petousi, N., Piazza, P., Piret, S. E., Polanco-Echeverry, G., Popitsch, N., Powrie, F., Pugh, C., Quek, L., Robbins, P. A., Robson, K., Russo, A., Sahgal, N., van Schouwenburg, P. A., Schuh, A., Silverman, E., Simmons, A., Sørensen, P. S., Sweeney, E., Taylor, J., Thakker, R. V., Tomlinson, I., Trebes, A., Twigg, S. R., Uhlig, H. H., Vyas, P., Vyse, T., Wall, S. A., Watkins, H., Whyte, M. P., Witty, L., Wright, B., Yau, C., Buck, D., Humphray, S., Ratcliffe, P. J., Bell, J. I., Wilkie, A. O., Bentley, D., Donnelly, P., & McVean, G. (2015). Factors influencing success of clinical genome sequencing across a broad spectrum of disorders. Nature Genetics. doi:10.1038/ng.3304.
22. Tomlinson, A. N., Skinner, D., Perry, D. L., Scollon, S. R., Roche, M. I., & Bernhardt, B. A. (2015). “Not tied up neatly with a bow”: professionals’ challenging cases in informed consent for genomic sequencing. Journal of Genetic Counseling. doi:10.1007/s10897-015-9842-8.
23. Wham, D., Vu, T., Chan-Smutko, G., Kobelka, C., Urbauer, D., & Heald, B. (2010). Assessment of clinical practices among cancer genetic counselors. Familial Cancer, 9(3), 459–468. doi:10.1007/s10689-010-9326-9.
24. Yang, Y., Muzny, D. M., Reid, J. G., Bainbridge, M. N., Willis, A., Ward, P. A., Braxton, A., Beuten, J., Xia, F., Niu, Z., Hardison, M., Person, R., Bekheirnia, M. R., Leduc, M. S., Kirby, A., Pham, P., Scull, J., Wang, M., Ding, Y., Plon, S. E., Lupski, J. R., Beaudet, A. L., Gibbs, R. A., & Eng, C. M. (2013). Clinical whole-exome sequencing for the diagnosis of mendelian disorders. New England Journal of Medicine, 369(16), 1502–1511. doi:10.1056/NEJMoa1306555.
25. Yang, Y., Muzny, D. M., Xia, F., Niu, Z., Person, R., Ding, Y., Ward, P., Braxton, A., Wang, M., Buhay, C., Veeraraghavan, N., Hawes, A., Chiang, T., Leduc, M., Beuten, J., Zhang, J., He, W., Scull, J., Willis, A., Landsverk, M., Craigen, W. J., Bekheirnia, M. R., Stray-Pedersen, A., Liu, P., Wen, S., Alcaraz, W., Cui, H., Walkiewicz, M., Reid, J., Bainbridge, M., Patel, A., Boerwinkle, E., Beaudet, A. L., Lupski, J. R., Plon, S. E., Gibbs, R. A., & Eng, C. M. (2014). Molecular findings among patients referred for clinical whole-exome sequencing. JAMA. doi:10.1001/jama.2014.14601.