Personal utility of genomic sequencing for infants with congenital deafness.

Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

Publication: Hoboken, N.J. : Wiley-Blackwell
Original Publication: Hoboken, N.J. : Wiley-Liss, c2003-

Genetic Testing* ; Genomics*; Deafness/*diagnosis ; Hearing Loss, Sensorineural/*diagnosis; Child ; Deafness/epidemiology ; Deafness/genetics ; Deafness/pathology ; Exome/genetics ; Hearing Loss, Sensorineural/epidemiology ; Hearing Loss, Sensorineural/genetics ; Hearing Loss, Sensorineural/pathology ; Humans ; Infant ; Infant, Newborn ; Male ; Neonatal Screening ; Parents ; Surveys and Questionnaires ; Exome Sequencing

Decisions about genetic testing have traditionally been based on clinical utility and cost, but personal utility is increasingly recognized when assessing the value of testing. Whole exome sequencing (WES) was offered to a population cohort of 106 infants diagnosed with congenital hearing loss. Parents could choose to receive results relating to hearing loss only or also learn additional information about childhood-onset conditions (medically nonactionable and/or actionable). This study aimed to quantify the personal utility of WES for parents after a diagnosis of hearing loss in their child. Parents completed surveys pretest (63/106), after hearing loss results (52/106) and after receiving additional information (47/72). Open-ended responses from all three surveys (N = 67) were analyzed using inductive content analysis. Answers to questions regarding the value of sequencing to parents were analyzed and collated. Parents placed high value on diagnostic WES for hearing loss but had different perspectives on the personal utility of additional information. Diagnostic results provided certainty while the choice to learn additional information about childhood-onset disorders was associated with empowerment. WES also represented an opportunity to promote their child's best interests. Results provide insights into the utility of WES for the indication of congenital deafness and for genomic newborn screening broadly.
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Abe, S., Noguchi, Y., & Kitamura, K. (2010). What do patients with hereditary deafness think of genetic studies? Auris, Nasus, Larynx, 37(4), 422-426. https://doi.org/10.1016/j.anl.2009.12.007.
Anderson, J. A., Meyn, M. S., Shuman, C., Zlotnik Shaul, R., Mantella, L. E., Szego, M. J., Bowdin, S., Monfared, N., & Hayeems, R. Z. (2017). Parents perspectives on whole genome sequencing for their children: Qualified enthusiasm? Journal of Medical Ethics, 43(8), 535-539. https://doi.org/10.1136/medethics-2016-103564.
Arnos, K. S. (2003). The implications of genetic testing for deafness. Ear and Hearing, 24(4), 324-331. https://doi.org/10.1097/01.AUD.0000079800.64741.CF.
Boudreault, P., Baldwin, E. E., Fox, M., Dutton, L., Tullis, L., Linden, J., Kobayashi, Y., Zhou, J., Sinsheimer, J. S., Sininger, Y., Grody, W. W., & Palmer, C. G. S. (2010). Deaf adults' reasons for genetic testing depend on cultural affiliation: Results from a prospective, longitudinal genetic counseling and testing study. Journal of Deaf Studies and Deaf Education, 15(3), 209-227. https://doi.org/10.1093/deafed/enq012.
Brunger, J. W., Matthews, A. L., Smith, R. H. J., & Robin, N. H. (2001). Genetic testing and genetic counseling for deafness: The future is here. Laryngoscope, 111(4), 715-718. https://doi.org/10.1097/00005537-200104000-00027.
Brunger, J. W., Murray, G. S., O'riordan, M., Matthews, A. L., Smith, R. J. H., & Robin, N. H. (2000). Parental attitudes toward genetic testing for pediatric deafness. American Journal of Human Genetics, 67(6), 1621-1625. https://doi.org/10.1086/316901.
Bunnik, E. M., Janssens, A. C. J. W., & Schermer, M. H. N. (2015). Personal utility in genomic testing: Is there such a thing? Journal of Medical Ethics, 41(4), 322-326. https://doi.org/10.1136/medethics-2013-101887.
Downie, L., Halliday, J., Burt, R., Lunke, S., Lynch, E., Martyn, M., Poulakis, Z., Gaff, C., Sung, V., Wake, M., Hunter, M. F., Saunders, K., Rose, E., Lewis, S., Jarmolowicz, A., Phelan, D., Rehm, H. L., Melbourne Genomics Health Alliance & Amor, D. J. (2020). Exome sequencing in infants with congenital hearing impairment: A population-based cohort study. European journal of human genetics: EJHG, 28(5), 587-596. https://doi.org/10.1038/s41431-019-0553-8.
Downie, L., Halliday, J., Lewis, S., Lunke, S., Lynch, E., Martyn, M., Gaff, C., Jarmolowicz, A., & Amor, D. J. (2020). Exome sequencing in newborns with congenital deafness as a model for genomic newborn screening: The Baby Beyond Hearing project. Genetics in Medicine, 22, 937-944. https://doi.org/10.1038/s41436-019-0745-1.
Downie, L., Halliday, J. L., Burt, R. A., Lunke, S., Lynch, E., Martyn, M., Poulakis, Z., Gaff, C., Sung, V., Wake, M., Hunter, M., Saunders, K., Rose, E., Rehm, H. L., & Amor, D. J. (2017). A protocol for whole-exome sequencing in newborns with congenital deafness: A prospective population-based cohort. BMJ Paediatrics Open, 1(1), 937-944. https://doi.org/10.1136/bmjpo-2017-000119.
Elo, S., & Kyngäs, H. (2008). The qualitative content analysis process. Journal of Advanced Nursing, 62(1), 107-115. https://doi.org/10.1111/j.1365-2648.2007.04569.x.
Frankel, L. A., Pereira, S., & McGuire, A. L. (2016). Potential psychosocial risks of sequencing newborns. Pediatrics, 137(Suppl 1), S24-S29. https://doi.org/10.1542/peds.2015-3731F.
Friedman, J. M., Cornel, M. C., Goldenberg, A. J., Lister, K. J., Sénécal, K., & Vears, D. F. (2017). Genomic newborn screening: Public health policy considerations and recommendations. BMC Medical Genomics, 10(1), 9.
Genetti, C. A., Schwartz, T. S., Robinson, J. O., VanNoy, G. E., Petersen, D., Pereira, S., Fayer, S., Peoples, H. A., Agrawal, P. B., Betting, W. N., Holm, I. A., McGuire, A. L., Waisbren, S. E., Yu, T. W., Green, R. C., Beggs, A. H., Parad, R. B., & BabySeq Project Team. (2019). Parental interest in genomic sequencing of newborns: Enrollment experience from the BabySeq Project. Genetics in Medicine, 21(3), 622-630. https://doi.org/10.1038/s41436-018-0105-6.
Goldenberg, A. J., Dodson, D. S., Davis, M. M., & Tarini, B. A. (2013). Parents' interest in whole-genome sequencing of newborns. Genetics in Medicine, 16, 78-84. https://doi.org/10.1038/gim.2013.76.
Gyngell, C., Newson, A. J., Wilkinson, D., Stark, Z., & Savulescu, J. (2019). Rapid challenges: Ethics and genomic neonatal intensive care. Pediatrics, 143(Suppl 1), S14-S21.
Johnston, J., & Juengst, E. (2018). Are parents really obligated to learn as much as possible about their children's genomes? Hastings Center Report, 48, S14-S15. https://doi.org/10.1002/hast.877.
Johnston, J., Lantos, J. D., Goldenberg, A., Chen, F., Parens, E., & Koenig, B. A. (2018). Sequencing newborns: A call for nuanced use of genomic technologies. The Hastings Center Report, 48(Suppl 2), S2-s6. https://doi.org/10.1002/hast.874.
Kaimal, G., Steinberg, A. G., Ennis, S., Harasink, S. M., Ewing, R., & Li, Y. (2007). Parental narratives about genetic testing for hearing loss: A one year follow up study. Journal of Genetic Counseling, 16(6), 775-787. https://doi.org/10.1007/s10897-007-9110-7.
Kohler, J. N., Turbitt, E., & Biesecker, B. B. (2017). Personal utility in genomic testing: A systematic literature review. European Journal of Human Genetics, 25(6), 662-668. https://doi.org/10.1038/ejhg.2017.10.
Kulchak Rahm, A., Bailey, L., Fultz, K., Fan, A., Williams, J. L., Buchanan, A., Davis, F. D., Murray, M. F., & Williams, M. S. (2018). Parental attitudes and expectations towards receiving genomic test results in healthy children. Translational Behavioral Medicine, 8(1), 44-53. https://doi.org/10.1093/tbm/ibx044.
Martinez, A., Linden, J., Schimmenti, L. A., & Palmer, C. G. S. (2003). Attitudes of the broader hearing, deaf, and hard-of-hearing community toward genetic testing for deafness. Genetics in Medicine, 5(2), 106-112. https://doi.org/10.1097/01.GIM.0000055200.52906.75.
Middleton, A., Hewison, J., & Mueller, R. F. (1998). Attitudes of deaf adults toward genetic testing for hereditary deafness. American Journal of Human Genetics, 63(4), 1175-1180. https://doi.org/10.1086/302060.
Morton, C. C., & Nance, W. E. (2006). Newborn hearing screening-A silent revolution. New England Journal of Medicine, 354(20), 2151-2164. https://doi.org/10.1056/NEJMra050700.
Palmer, C. G. S., Boudreault, P., Baldwin, E. E., Fox, M., Deignan, J. L., Kobayashi, Y., Sininger, Y., Grody, W., & Sinsheimer, J. S. (2013). Deaf genetic testing and psychological well-being in deaf adults. Journal of Genetic Counseling, 22(4), 492-507. https://doi.org/10.1007/s10897-013-9573-7.
Palmer, C. G. S., Boudreault, P., Baldwin, E. E., & Sinsheimer, J. S. (2014). Impact of genetic counseling and Connexin-26 and Connexin-30 testing on deaf identity and comprehension of genetic test results in a sample of deaf adults: A prospective, longitudinal study. PLoS One, 9(11), e111512. https://doi.org/10.1371/journal.pone.0111512.
Powell, C. M. (2018). What genomic sequencing can offer universal newborn screening programs. Pediatrics, 48(S2), S18-S19. https://doi.org/10.1002/hast.878.
Sanderson, S., Zimmern, R., Kroese, M., Higgins, J., Patch, C., & Emery, J. J. G. I. M. (2005). How can the evaluation of genetic tests be enhanced? Lessons learned from the ACCE framework and evaluating genetic tests in the United Kingdom. Genetics in Medicine, 7(7), 495.
Shearer, A. E., & Smith, R. J. (2015). Massively parallel sequencing for genetic diagnosis of hearing loss: The new standard of care. Otolaryngology-Head Neck Surgery, 153(2), 175-182.
Waisbren, S. E., Weipert, C. M., Walsh, R. C., Petty, C. R., & Green, R. C. (2016). Psychosocial factors influencing parental interest in genomic sequencing of newborns. Pediatrics, 137(Suppl 1), S30-S35. https://doi.org/10.1542/peds.2015-3731G.

Keywords: newborn genomic sequencing; newborn screening; personal utility; whole exome sequencing

Date Created: 20210629 Date Completed: 20220303 Latest Revision: 20221207

20240513

10.1002/ajmg.a.62411

34184819