“Is that something that should concern me?”: a qualitative exploration of parent understanding of their child’s genomic test results
Dana Watnick,
Jacqueline A. Odgis,
Sabrina A. Suckiel,
Katie M. Gallagher,
Nehama Teitelman,
Katherine E. Donohue,
Bruce D. Gelb,
Eimear E. Kenny,
Melissa P. Wasserstein,
Carol R. Horowitz,
Siobhan M. Dolan,
Laurie J. Bauman
Affiliations
Dana Watnick
Department of Pediatrics, Albert Einstein College of Medicine, Bronx, NY 10461, USA; Corresponding author
Jacqueline A. Odgis
Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; Corresponding author
Sabrina A. Suckiel
Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA
Katie M. Gallagher
Department of Pediatrics, Albert Einstein College of Medicine, Bronx, NY 10461, USA
Nehama Teitelman
Department of Pediatrics, Albert Einstein College of Medicine, Bronx, NY 10461, USA
Katherine E. Donohue
Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA
Bruce D. Gelb
Mindich Child Health and Development Institute, Departments of Pediatrics and Genetics & Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA
Eimear E. Kenny
Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; Department of Medicine, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA
Melissa P. Wasserstein
Department of Pediatrics, Albert Einstein College of Medicine, Bronx, NY 10461, USA
Carol R. Horowitz
Departments of Population Health Science and Policy and Medicine, Institute for Health Equity Research, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; Department of Medicine, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA
Siobhan M. Dolan
Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; Department of Obstetrics, Gynecology, and Reproductive Science, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA
Laurie J. Bauman
Department of Pediatrics, Albert Einstein College of Medicine, Bronx, NY 10461, USA; Department of Psychiatry and Behavioral Sciences, Albert Einstein College of Medicine, Bronx, NY 10461, USA
Summary: Genetic counselors are trained to deliver complicated genomic test results to parents of pediatric patients. However, there is limited knowledge on how parents perceive this information and what they understand about the results. This research aims to qualitatively explore parents’ experiences receiving genomic test results for their children. As part of formative research for the NYCKidSeq Study, we recruited a purposive sample of parents of 22 children stratified by child race/ethnicity and test result classification (positive, uncertain, or negative) and conducted in-depth interviews using a semi-structured guide. Analysis was conducted using grounded theory’s constant comparative method across cases and themes. Parents described different elements of understanding: genetics knowledge; significance and meaning of positive, uncertain, or negative results; and implications for the health of their child and family. Parents reported challenges understanding technical details and significance of their child’s results but gladly allowed their providers to be custodians of this information. However, of the different elements of understanding described, parents cared most deeply about being able to understand implications for their child’s and family’s health. These findings suggest that a counseling approach that primarily addresses parents’ desire to understand how to best care for their child and family may be more appropriate than an information-heavy approach focused on technical details. Further research is warranted to confirm these findings in larger parent cohorts and to explore ways genetic counseling can support parents’ preferences without sacrificing important components of parent understanding and overall satisfaction with their experiences with genomic medicine.
