The utilization of genome-wide chromosomal microarray analysis (CMA) in pediatric clinical practice provides an opportunity to consider how genetic diagnostics is evolving, and to prepare for the clinical integration of genome-wide sequencing technologies. We conducted semi-structured interviews with 15 healthcare providers (7 genetic counselors, 4 medical geneticists, and 4 non-genetics providers) to investigate the impact of CMA on clinical practice, and implications for providers, patients and families. Interviews were analyzed qualitatively using content analysis. Most providers reported that genomic testing enhanced their professional experience and was beneficial to patients, primarily due to the improved diagnostic rate compared with earlier chromosomal studies. Other effects on practice included moving towards genotype-first diagnosis and broadening indications for chromosomal testing. Opinions varied concerning informed consent and disclosure of results. The duty to disclose incidental findings (IFs) was noted; however concerns were raised about potential psychosocial harms of disclosing pre-symptomatic findings. Tensions were revealed between the need for comprehensive informed consent for all families and the challenges of communicating time-consuming and potentially anxiety-provoking information regarding uncertain and incidental findings that may be relevant only in rare cases. Genetic counselors can play an important role in liaising with families, health professionals and testing laboratories, providing education and guidance to non-genetics providers, and enabling families to receive adequate pre-and post-test information and follow-up care.
This is a preview of subscription content, log in to check access.
Abdul-Karim, R., Berkman, B. E., Wendler, D., Rid, A., Khan, J., Badgett, T., & Hull, S. C. (2013). Disclosure of Incidental findings from next-generation sequencing in pediatric genomic research. Pediatrics, 131(3), 564–571.
Ali-Khan, S. E., Daar, A. S., Shuman, C., Ray, P. N., & Scherer, S. W. (2009). Whole genome scanning: Resolving clinical diagnosis and management amidst complex data. Pediatric Research, 66(4), 357–363.
Aronson, S. J., Clark, E. H., Varugheese, M., Baxter, S., Babb, L. J., & Rehm, H. L. (2012). Communicating new knowledge on previously reported genetic variants. Genetics in Medicine, 14(8), 713–719.
Bazeley, P. (2007). Qualitative analysis with Nvivo. Thousand Oaks: Sage Publications Ltd.
Beaudet, A. L., & Belmont, J. W. (2008). Array-based DNA diagnostics: Let the revolution begin. Annu. Rev. Med., 59, 113–129.
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.
Bernard, H. R. (2002). Qualitative data analysis I: Text analysis. Research Methods in Anthropology (Qualitative and Quantitative Approaches) (Vol. 3rd, pp. 440–488). Walnut Creek: AltaMira Press.
Bernard, H. R. (2012). Social research methods: Qualitative and quantitative approaches Sage Publications, Incorporated.
Boone, P. M., Soens, Z. T., Campbell, I. M., Stankiewicz, P., Cheung, S. W., Patel, A., et al. (2013). Incidental copy-number variants identified by routine genome testing in a clinical population. Genetics in Medicine, 15(1), 45–54.
Christenhusz, G. M., Devriendt, K., & Dierickx, K. (2013). To tell or not to tell? A systematic review of ethical reflections on incidental findings arising in genetics contexts. European Journal of Human Genetics, 21, 248–255.
Cody, J. (2009). Reply to letter from Drs. Ledbetter, Saul, and Moeschler. Genetics in Medicine, 11(9), 682.
Cohen, J., Hoon, A., & Wilms Floet, A. M. (2013). Providing family guidance in rapidly shifting sand: informed consent for genetic testing. Developmental Medicine & Child Neurology, 56(1), 766–768.
Darilek, S., Ward, P., Pursley, A., Plunkett, K., Furman, P., Magoulas, P., et al. (2008). Pre-and postnatal genetic testing by array-comparative genomic hybridization: genetic counseling perspectives. Genetics in Medicine, 10(1), 13–18.
Deak, K. L., Horn, S. R., & Rehder, C. W. (2011). The evolving picture of microdeletion/microduplication syndromes in the age of microarray analysis: Variable expressivity and genomic complexity. Clinics in Laboratory Medicine, 31(4), 543–64. viii.
Dondorp, W. J., Sikkema-Raddatz, B., de Die-Smulders, C., & de Wert, G. (2012). Arrays in postnatal and prenatal diagnosis: An exploration of the ethics of consent. Human Mutation, 33(6), 916–922.
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.
Ellison, J. W., Ravnan, J. B., Rosenfeld, J. A., Morton, S. A., Neill, N. J., Williams, M. S., et al. (2012). Clinical utility of chromosomal microarray analysis. Pediatrics, 130(5), e1085–e1095.
Fanos, J. H. (2012). New “first families”: The psychosocial impact of new genetic technologies. Genetics in Medicine, 14(2), 189–190.
Feero, W. G., & Green, E. D. (2011). Genomics education for health care professionals in the 21st century. JAMA: The Journal of the American Medical Association, 306(9), 989–990.
Friedman, J. (2009). High–resolution array genomic hybridization in prenatal diagnosis. Prenatal Diagnosis, 29(1), 20–28.
Geller, G., Tambor, E. S., Chase, G. A., & Holtzman, N. A. (1993). Measuring physicians’ tolerance for ambiguity and its relationship to their reported practices regarding genetic testing. Medical Care, 31(11), 989–1001.
Gerrity, M. S., DeVellis, R. F., & Earp, J. A. (1990). Physicians’ reactions to uncertainty in patient care: a new measure and new insights. Medical Care, 28(8), 724–736.
Gerrity, M. S., White, K. P., DeVellis, R. F., & Dittus, R. S. (1995). Physicians’ reactions to uncertainty: Refining the constructs and scales. Motivation and Emotion, 19(3), 175–191.
Girirajan, S., Rosenfeld, J. A., Coe, B. P., Parikh, S., Friedman, N., Goldstein, A., et al. (2012). Phenotypic heterogeneity of genomic disorders and rare copy-number variants. New England Journal of Medicine, 367, 1321–1331.
Green, R. C., Berg, J. S., Berry, G. T., Biesecker, L. G., Dimmock, D. P., Evans, J. P., et al. (2012). Exploring concordance and discordance for return of incidental findings from clinical sequencing. Genetics in Medicine, 14(4), 405–410.
Green, R. C., Berg, J. S., Grody, W. W., Kalia, S. S., Korf, B. R., Martin, C. L., et al. (2013). ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genetics in Medicine, 15, 565–574.
Greendale, K., & Pyeritz, R. E. (2001). Empowering primary care health professionals in medical genetics: How soon? How fast? How far? American Journal of Medical Genetics, 106(3), 223–232.
Grody, W. W. (2003). Ethical issues raised by genetic testing with oligonucleotide microarrays. Molecular Biotechnology, 23(2), 127–138.
Hennekam, R. C., & Biesecker, L. G. (2012). Next-generation sequencing demands next-generation phenotyping. Human Mutation, 33(5), 884–886.
Jackson, L., & Pyeritz, R. E. (2011). Molecular technologies open new clinical genetic vistas. Science Translational Medicine, 3(65), 65ps2–65ps2.
Kearney, H. M., Thorland, E. C., Brown, K. K., Quintero-Rivera, F., & South, S. T. (2011). American college of medical genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants. Genetics in Medicine, 13(7), 680–685.
Kemper, A. R., Trotter, T. L., Lloyd-Puryear, M. A., Kyler, P., Feero, W. G., & Howell, R. R. (2010). A blueprint for maternal and child health primary care physician education in medical genetics and genomic medicine: recommendations of the United States secretary for health and human services advisory committee on heritable disorders in newborns and children. Genetics in Medicine, 12(2), 77–80.
Kohane, I. S., Masys, D. R., & Altman, R. B. (2006). The incidentalome: A threat to genomic medicine. Journal of the American Medical Association, 296(2), 212–215.
Lacassie, Y. (2009). Comments on the “genotype first diagnosis” controversy. Genetics in Medicine, 11(9), 682.
Ledbetter, D. H. (2008). Cytogenetic technology—genotype and phenotype. New England Journal of Medicine, 359(16), 1728–1730.
Ledbetter, D. H. (2009). Response to Saul and Moeschler “How best to use CGH arrays in the clinical setting”. Genetics in Medicine, 11(5), 371–372.
Lerman, C., Croyle, R. T., Tercyak, K. P., & Hamann, H. (2002). Genetic testing: Psychological aspects and implications. Journal of Consulting and Clinical Psychology, 70(3), 784–797.
Manning, M., & Hudgins, L. (2010). Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities. Genetics in Medicine, 12(11), 742–745.
Mefford, H. C. (2009). Genotype to phenotype—discovery and characterization of novel genomic disorders in a “genotype-first” era. Genetics in Medicine, 11(12), 836–842.
Mefford, H. C., & Eichler, E. E. (2009). Duplication hotspots, rare genomic disorders, and common disease. Current Opinion in Genetics & Development, 19(3), 196–204.
Miller, D. T., Adam, M. P., Aradhya, S., Biesecker, L. G., Brothman, A. R., Carter, N. P., et al. (2010). Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. The American Journal of Human Genetics, 86(5), 749–764.
Navon, D. (2012). Genetic counseling, activism and ‘Genotype-First’ diagnosis of developmental disorders. Journal of Genetic Counseling, 21(6), 770–776.
Nelson, R., Botkin, J. R., Kodish, E., Levetown, M., Truman, J., Wilfond, B., et al. (2001). Ethical issues with genetic testing in pediatrics. Pediatrics, 107(6), 1451–1455.
Netzer, C., Klein, C., Kohlhase, J., & Kubisch, C. (2009). New challenges for informed consent through whole genome array testing. Journal of Medical Genetics, 46(7), 495–496.
Portnoy, D. B., Han, P. K., Ferrer, R. A., Klein, W. M., & Clauser, S. B. (2011). Physicians’ attitudes about communicating and managing scientific uncertainty differ by perceived ambiguity aversion of their patients. Health Expectations
Pyeritz, R. E. (2011). The coming explosion in genetic testing–is there a duty to recontact? The New England Journal of Medicine, 365(15), 1367–1369.
Reiff, M., Bernhardt, B. A., Mulchandani, S., Soucier, D., Cornell, D., Pyeritz, R. E., & Spinner, N. B. (2012). “What does it mean?”: Uncertainties in understanding results of chromosomal microarray testing. Genetics in Medicine, 14(2), 250–258.
Reiff, M., Ross, K., Mulchandani, S., Propert, K. J., Pyeritz, R. E., Spinner, N. B., & Bernhardt, B. A. (2013). Physicians’ perspectives on the uncertainties and implications of chromosomal microarray testing of children and families. Clinical Genetics, 83(1), 23–30.
Saul, R., & Moeschler, J. (2009). How best to use CGH arrays in the clinical setting. Genetics in Medicine, 11(5), 371.
Shaffer, L. G., & Bejjani, B. A. (2006). Medical applications of array CGH and the transformation of clinical cytogenetics. Cytogenetic and Genome Research, 115(3–4), 303–309.
Trinidad, S. B., Fryer-Edwards, K., Crest, A., Kyler, P., Lloyd-Puryear, M. A., & Burke, W. (2008). Educational needs in genetic medicine: primary care perspectives. Public Health Genomics, 11(3), 160–165.
Wade, C. H., Wilfond, B. S., & McBride, C. M. (2010). Effects of genetic risk information on children’s psychosocial wellbeing: A systematic review of the literature. Genetics in Medicine, 12(6), 317–326.
Wain, K. E., Riggs, E., Hanson, K., Savage, M., Riethmaier, D., Muirhead, A., et al. (2012). The laboratory-clinician team: A professional call to action to improve communication and collaboration for optimal patient care in chromosomal microarray testing. Journal of Genetic Counseling, 5, 631–637.
Wilfond, B., & Ross, L. F. (2009). From genetics to genomics: Ethics, policy, and parental decision-making. Journal of Pediatric Psychology, 34(6), 639–647.
This study was funded by the National Human Genome Research Institute of the National Institutes of Health (NIH) supplement PA-04-126 to Penn CIGHT P50 HG004487. The opinions in this report do not reflect the views of the NIH.
Conflict of interest
The authors declare no conflict of interest with respect to the manuscript.
About this article
Cite this article
Reiff, M., Mueller, R., Mulchandani, S. et al. A Qualitative Study of Healthcare Providers’ Perspectives on the Implications of Genome-Wide Testing in Pediatric Clinical Practice. J Genet Counsel 23, 474–488 (2014). https://doi.org/10.1007/s10897-013-9653-8
- Incidental findings
- Clinical pediatrics