Katherine E Donohue1, Siobhan M Dolan2, Dana Watnick3, Katie M Gallagher3, Jacqueline A Odgis1, Sabrina A Suckiel1, Nehama Teitelman3, Bruce D Gelb4, Eimear E Kenny5, Melissa P Wasserstein3, Carol R Horowitz6, Laurie J Bauman7. 1. Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY, United States. 2. Department of Obstetrics, Gynecology and Reproductive Science, Icahn School of Medicine at Mount Sinai, New York, NY, United States. 3. Department of Pediatrics, Montefiore Medical Center / Albert Einstein College of Medicine, Bronx, NY, United States. 4. Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY, United States; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, United States; Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY, United States. 5. Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY, United States; Department of Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, United States; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, United States. 6. Department of Population Health Science and Policy, Icahn School of Medicine at Mount Sinai, New York, NY, United States; Department of Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, United States; Institute for Health Equity Research, Icahn School of Medicine at Mount Sinai, New York, NY, United States. 7. Department of Pediatrics, Montefiore Medical Center / Albert Einstein College of Medicine, Bronx, NY, United States; Department of Psychiatry and Behavioral Sciences, Montefiore Medical Center / Albert Einstein College of Medicine, Bronx, NY, United States. Electronic address: Laurie.Bauman@einsteinmed.org.
Abstract
OBJECTIVE: Genomics is increasingly used for diagnostic testing in children. This study describes the expectations of parents whose child received genomic testing and whether or not they were met. METHODS: A diverse stratified, purposive sample of parents of 22 children in New York City was interviewed using a semi-structured guide. Genomic test results were positive, negative, or uncertain. RESULTS: Parents expressed their expectations in narrative and numeric fashion. Parents expected that their child's test would have a direct effect on their child's diagnosis. Some believed that results would be definitive, while others recognized testing limitations. Expectations reflected parents' hope to find a diagnosis and led to disappointment when results were uninformative or did not impact clinical management. CONCLUSION: Results suggest pre-test genetic counseling emphasize the low likelihood of actionable results; however, parents' expectations of genomics' diagnostic capabilities are strongly rooted in their need to end the diagnostic odyssey and may be difficult to manage. PRACTICE IMPLICATIONS: Parents' hope for a resolution and effective treatment for their child is a powerful context in which genetic counseling is heard. Clinicians who provide genomic testing should continue to acknowledge parents' preconceptions. Additional research in other settings will help understand how to best address and manage parent expectations of genomic medicine.
OBJECTIVE: Genomics is increasingly used for diagnostic testing in children. This study describes the expectations of parents whose child received genomic testing and whether or not they were met. METHODS: A diverse stratified, purposive sample of parents of 22 children in New York City was interviewed using a semi-structured guide. Genomic test results were positive, negative, or uncertain. RESULTS: Parents expressed their expectations in narrative and numeric fashion. Parents expected that their child's test would have a direct effect on their child's diagnosis. Some believed that results would be definitive, while others recognized testing limitations. Expectations reflected parents' hope to find a diagnosis and led to disappointment when results were uninformative or did not impact clinical management. CONCLUSION: Results suggest pre-test genetic counseling emphasize the low likelihood of actionable results; however, parents' expectations of genomics' diagnostic capabilities are strongly rooted in their need to end the diagnostic odyssey and may be difficult to manage. PRACTICE IMPLICATIONS: Parents' hope for a resolution and effective treatment for their child is a powerful context in which genetic counseling is heard. Clinicians who provide genomic testing should continue to acknowledge parents' preconceptions. Additional research in other settings will help understand how to best address and manage parent expectations of genomic medicine.
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