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“My Plate is Full”: Reasons for Declining a Genetic Evaluation of Hearing Loss
dc.contributor.authorLesperance, Marci M.
dc.contributor.authorWinkler, Erin
dc.contributor.authorMelendez, Tori L.
dc.contributor.authorYashar, Beverly M.
dc.date.accessioned2019-01-15T20:31:38Z
dc.date.available2019-08-01T19:53:22Zen
dc.date.issued2018-06
dc.identifier.citationLesperance, Marci M.; Winkler, Erin; Melendez, Tori L.; Yashar, Beverly M. (2018). "“My Plate is Full”: Reasons for Declining a Genetic Evaluation of Hearing Loss." Journal of Genetic Counseling 27(3): 597-607.
dc.identifier.issn1059-7700
dc.identifier.issn1573-3599
dc.identifier.urihttps://hdl.handle.net/2027.42/147183
dc.description.abstractThe aim of this study was to obtain patient and parent perspectives on genetic evaluation of hearing loss, in order to identify motivators, expectations, and barriers. Three focus groups were conducted following a semi‐structured discussion guide, led by an independent moderator. Participants were hearing parents of children with permanent hearing loss or deaf adults. Qualitative content analysis was used to develop a codebook and identify major themes and subthemes. Participant views were compared to national guidelines. The 28 participants comprised 23 parents representing 21 unique families and 5 deaf adults. 13/21 families and 0/5 adults reported comorbidities, 4/21 families and 3/5 adults had a positive family history, and 12/21 families versus 0/5 adults had utilized genetics services. A common theme among adults and parents was a curiosity as to the cause of hearing loss. Parents were motivated to detect comorbidities and optimize care for hearing loss. Some parents felt overwhelmed by the hearing loss and unprepared to pursue early genetic evaluation as recommended in guidelines. Several reported positive experiences following genetics consultation, while others reported unease and unmet expectations. Notably, both parents and adults expressed ambivalence regarding the desire for genetic knowledge. Financial concerns and difficulties obtaining a referral were cited as extrinsic barriers. For parents of children with hearing loss, both the presence of comorbidities and a positive family history were drivers of genetics consultation and/or genetic testing. We identified educational opportunities for both patients and providers that would improve informed decision‐making and increase access to genetic services. Consideration of the patient/family perspective and their decision‐making processes, along with flexibility in the approach to genetics evaluation and its timing, will optimize both the development and implementation of guidelines.
dc.publisherSpringer US
dc.publisherWiley Periodicals, Inc.
dc.subject.otherGenetic services
dc.subject.otherAutonomy
dc.subject.otherDeafness
dc.subject.otherComorbidities
dc.subject.otherPatient preferences
dc.subject.otherHearing loss
dc.title“My Plate is Full”: Reasons for Declining a Genetic Evaluation of Hearing Loss
dc.typeArticleen_US
dc.rights.robotsIndexNoFollow
dc.subject.hlbsecondlevelHuman Genetics
dc.subject.hlbtoplevelHealth Sciences
dc.description.peerreviewedPeer Reviewed
dc.description.bitstreamurlhttps://deepblue.lib.umich.edu/bitstream/2027.42/147183/1/jgc40597.pdf
dc.identifier.doi10.1007/s10897-017-0149-9
dc.identifier.sourceJournal of Genetic Counseling
dc.identifier.citedreferenceRoss, L. F., Saal, H. M., David, K. L., & Anderson, R. R. ( 2013 ). Technical report: Ethical and policy issues in genetic testing and screening of children. Genetics in Medicine, 15 ( 3 ), 234 – 245.
dc.identifier.citedreferenceMcAllister, M., Davies, L., Payne, K., Nicholls, S., Donnai, D., & MacLeod, R. ( 2007 ). The emotional effects of genetic diseases: Implications for clinical genetics. American Journal of Medical Genetics Part A, 143 ( 22 ), 2651 – 2661.
dc.identifier.citedreferenceMichigan Hands & Voices Website ( 2010 ). http://www.mihandsandvoices.org/contact.html. 2016. http://www.mihandsandvoices.org/contact.html.
dc.identifier.citedreferenceMiddleton, 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.
dc.identifier.citedreferenceMiddleton, A., Hewison, J., & Mueller, R. ( 2001 ). Prenatal diagnosis for inherited deafness‐what is the potential demand? Journal of Genetic Counseling, 10 ( 2 ), 121 – 131.
dc.identifier.citedreferenceMiddleton, A., Emery, S. D., & Turner, G. H. ( 2010 ). Views, knowledge, and beliefs and genetics and genetic counselling among deaf people. Sign Language Studies, 10, 170 – 196.
dc.identifier.citedreferenceMorton, N. E. ( 1991 ). Genetic epidemiology of hearing impairment. Annals of the New York Academy of Sciences, 630, 16 – 31.
dc.identifier.citedreferenceMorzaria, S., Westerberg, B.D., & Kozak, F.K. ( 2005 ). Evidence‐based algorithm for the evaluation of a child with bilateral sensorineural hearing loss. The Journal of Otolaryngology, 34 ( 5 ), 297 – 303.
dc.identifier.citedreferenceMulley, A. G., Trimble, C., & Elwyn, G. ( 2012 ). Stop the silent misdiagnosis: patients’ preferences matter. BMJ, 345, e6572.
dc.identifier.citedreferenceOMIM ( 2016 ). Online Medelian Inheritance in Man. OMIM is a comprehensive authoritative compendium of human genes and genetic phenotypes that is freely available and updated daily. http://www.ncbi.nlm.nih.gov/omim. Accessed 21 Nov 2016.
dc.identifier.citedreferencePalmer, C. G., Martinez, A., Fox, M., Sininger, Y., Grody, W. W., & Schimmenti, L. A. ( 2008 ). Ethnic differences in parental perceptions of genetic testing for deaf infants. Journal of Genetic Counseling, 17 ( 1 ), 129 – 138.
dc.identifier.citedreferencePalmer, C. G., Lueddeke, J. T., & Zhou, J. ( 2009 ). Factors influencing parental decision about genetics evaluation for their deaf or hard‐of‐hearing child. Genetics in Medicine, 11 ( 4 ), 248 – 255.
dc.identifier.citedreferenceSaldana, J. ( 2012 ). The coding manual for qualitative researchers. Thousand Oaks: Sage.
dc.identifier.citedreferenceShearer, A.E., DeLuca, A.P., Hildebrand, M.S., Taylor, K.R., Gurrola, J., Scherer, S., Scheetz, T.E., Smith, R.J.H. ( 2010 ). Comprehensive genetic testing for hereditary hearing loss using massively parallel sequencing. Proceedings of the National Academy of Sciences, 107 ( 49 ), 21104 – 21109.
dc.identifier.citedreferenceSteinberg, A. G., Kaimal, G., Bain, L., Krantz, I., & Li, Y. ( 2007 ). Parental narratives on genetic testing for children with hearing loss: A qualitative inquiry. American Journal of Medical Genetics. Part A, 143a ( 14 ), 1533 – 1545.
dc.identifier.citedreferenceStern, S. J., Arnos, K. S., Murrelle, L., Welch, K. O., Nance, W. E., & Pandya, A. ( 2002 ). Attitudes of deaf and hard of hearing subjects towards genetic testing and prenatal diagnosis of hearing loss. Journal of Medical Genetics, 39 ( 6 ), 449 – 453.
dc.identifier.citedreferenceTaneja, P. R., Pandya, A., Foley, D. L., Nicely, L.V., & Arnos, K. S. ( 2004 ). Attitudes of deaf individuals towards genetic testing. American Journal of Medical Genetics. Part A, 130a ( 1 ), 17 – 21.
dc.identifier.citedreferenceVan Camp G, Smith RJH. ( 2016 ). Hereditary Hearing Loss Homepage. URL: http://hereditaryhearingloss.org accessed 2016
dc.identifier.citedreferenceWhelan, A. J., Ball, S., Best, L., Best, R. G., Echiverri, S. C., Ganschow, P., et al. ( 2004 ). Genetic red flags: Clues to thinking genetically in primary care practice. Primary Care; Clinics in Office Practice, 31 ( 3 ), 497 – 508.
dc.identifier.citedreferenceWhite, K. R. ( 2003 ). The current status of EHDI programs in the United States. Mental Retardation and Developmental Disabilities Research Reviews, 9 ( 2 ), 79 – 88.
dc.identifier.citedreferenceWithrow, K. A., Burton, S., Arnos, K. S., Kalfoglou, A., & Pandya, A. ( 2008 ). Consumer motivations for pursuing genetic testing and their preferences for the provision of genetic services for hearing loss. Journal of Genetic Counseling, 17 ( 3 ), 252 – 260.
dc.identifier.citedreferenceYoshinaga‐Itano, C. ( 2003 ). Early intervention after universal neonatal hearing screening: Impact on outcomes. Mental Retardation and Developmental Disabilities Research Reviews, 9 ( 4 ), 252 – 266.
dc.identifier.citedreferenceYoshinaga‐Itano C, Abdala de Uzcategui, C ( 2001 ). Early identification and social‐emotional factors of children with hearing loss and children screened for hearing loss. In: Kurtzer‐White E, Luterman D, eds: Early Childhood Deafness. Baltimore, MD: York Press: 13 – 28.
dc.identifier.citedreferenceYoshinaga‐Itano, C., Sedey, A. L., Coulter, D. K., & Mehl, A. L. ( 1998 ). Language of early‐ and later‐identified children with hearing loss. Pediatrics, 102 ( 5 ), 1161 – 1171.
dc.identifier.citedreferenceACMG. ( 2000 ). American College of Medical Genetics. Statement of the American College of Medical Genetics on universal newborn hearing screening. Genetics in Medicine, 2, 149 – 150.
dc.identifier.citedreferenceAlford, R. L., Arnos, K. S., Fox, M., Lin, J. W., Palmer, C. G., Pandya, A., Rehm, H. L., Robin, N. H., Scott, D. A., & Yoshinaga‐Itano, C. ( 2014 ). American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss. Genetics in Medicine, 16 ( 4 ), 347 – 355.
dc.identifier.citedreferenceBiesecker, B. B., & Erby, L. ( 2008 ). Adaptation to living with a genetic condition or risk: A mini‐review. Clinical Genetics, 74 ( 5 ), 401 – 407.
dc.identifier.citedreferenceBoudreault, P., Baldwin, E. E., Fox, M., Dutton, L., Tullis, L. E., 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, 209 – 227.
dc.identifier.citedreferenceBrunger, J. W., Murray, G. S., O’Riordan, M., Matthews, A. L., Smith, R. J., & Robin, N. H. ( 2000 ). Parental attitudes toward genetic testing for pediatric deafness. The American Journal of Human Genetics, 67 ( 6 ), 1621 – 1625.
dc.identifier.citedreferenceBurton, S. K., Withrow, K., Arnos, K. S., Kalfoglou, A. L., & Pandya, A. ( 2006 ). A focus group study of consumer attitudes toward genetic testing and newborn screening for deafness. Genetics in Medicine, 8 ( 12 ), 779 – 783.
dc.identifier.citedreferenceCohen, J. S., & Biesecker, B. B. ( 2010 ). Quality of life in rare genetic conditions: A systematic review of the literature. American Journal of Medical Genetics. Part A, 152a ( 5 ), 1136 – 1156.
dc.identifier.citedreferenceDagan, O., Hochner, H., Levi, H., Raas‐Rothschild, A., & Sagi, M. ( 2002 ). Genetic testing for hearing loss: Different motivations for the same outcome. American Journal of Medical Genetics, 113 ( 2 ), 137 – 143.
dc.identifier.citedreferenceDuncan, R. D., Prucka, S., Wiatrak, B. J., Smith, R. J., & Robin, N. H. ( 2007 ). Pediatric otolaryngologists’ use of genetic testing. Archives of Otolaryngology ‐ Head & Neck Surgery, 133 ( 3 ), 231 – 236.
dc.identifier.citedreferenceFisher, H. R., McKevitt, C., & Boaz, A. ( 2011 ). Why do parents enroll their children in research: A narrative synthesis. Journal of Medical Ethics, 37 ( 9 ), 544 – 551.
dc.identifier.citedreferenceGenetics in Primary Care Institute Website ( 2015 ). geneticsinprimarycare.aap.org. Web. 1 Oct. 2015, from geneticsinprimarycare.aap.org.
dc.identifier.citedreferenceGuillemin, M., & Gillam, L. ( 2006 ). Attitudes to genetic testing fordeafness: The importance of informed choice. Journal of Genetic Counseling, 15 ( 1 ), 51 – 59.
dc.identifier.citedreferenceHammers, E. (Ed.). ( 2009 ). Innovations in service delivery in the age of genomics workshop summary. Washington, D.C.: National Academies Press.
dc.identifier.citedreferenceKaimal, 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.
dc.identifier.citedreferenceKaye, C. I. ( 2012 ). Genetic service delivery: Infrastructure, assessment and information. Public Health Genomics, 15 ( 3–4 ), 164 – 171.
dc.identifier.citedreferenceKemper, A. R., & Downs, S. M. ( 2000 ). A cost‐effectiveness analysis of newborn hearing screening strategies. Archives of Pediatrics and Adolescent Medicine, 154 ( 5 ), 484 – 488.
dc.identifier.citedreferenceKiedrowski, L.A., Owens, K.M., Yashar, B.M., Schuette, J.L. ( 2016 ). Parents’ perspectives on variants of uncertain significance from chromosome microarray analysis. Journal of Genetic Counseling, 25 ( 1 ), 101 – 111.
dc.identifier.citedreferenceMartinez, A., Linden, J., Schimmenti, L. A., & Palmer, C. G. ( 2003 ). Attitudes of the broader hearing, deaf, and hard‐of‐hearing community toward genetic testing for deafness. Genetics in Medicine, 5 ( 2 ), 106 – 112.
dc.owningcollnameInterdisciplinary and Peer-Reviewed


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