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Genet Med. 2019 Aug 30. doi: 10.1038/s41436-019-0644-5. [Epub ahead of print]

Parents of newborns in the NICU enrolled in genome sequencing research: hopeful, but not naïve.

Author information

1
Center for Pediatric Genomic Medicine, Children's Mercy Kansas City, Kansas City, MO, USA. cdberrios@cmh.edu.
2
School of Medicine, University of Missouri-Kansas City, Kansas City, MO, USA. cdberrios@cmh.edu.
3
Division of Developmental and Behavioral Sciences, Children's Mercy Kansas City, Kansas City, MO, USA.
4
School of Medicine, University of Missouri-Kansas City, Kansas City, MO, USA.
5
Division of Health Services and Outcomes Research, Children's Mercy Kansas City, Kansas City, MO, USA.
6
Center for Pediatric Genomic Medicine, Children's Mercy Kansas City, Kansas City, MO, USA.
7
Bioethics Center, Children's Mercy Kansas City, Kansas City, MO, USA.

Abstract

PURPOSE:

In 2014, our institution launched a randomized controlled trial (RCT) comparing rapid genome sequencing (GS) to standard clinical evaluations of infants with suspected genetic disorders. This study aimed to understand parental response to the use of GS for their newborn babies.

METHODS:

Twenty-three of 128 parents whose infant had enrolled in the RCT completed a retrospective survey and interview addressing attitudes about GS and responses to receiving diagnostic information. We also collected information about participants' genetic literacy, genetic knowledge, numeracy, and symptoms of anxiety and depression.

RESULTS:

The majority reported positive (13; 56.5%) or neutral 4 (4; 17.4%) feelings when approached about GS for their infant and 100% felt that GS was generally beneficial. The 12 participants who had received a unifying diagnosis for their child's symptoms described personal utility of the information. Some reported the diagnosis led to changes in medical care. Participants showed understanding of some of the psychological risks of GS. For example, 21 (91.3%) agreed or strongly agreed that genetic testing could reveal disturbing results.

CONCLUSIONS:

Parents who enrolled their newborn in a RCT of GS demonstrated awareness of a psychological risk, but generally held positive beliefs about GS and perceived the benefits outweighed the risk.

KEYWORDS:

attitudes; genome sequencing; newborn; risks; utility

PMID:
31467447
DOI:
10.1038/s41436-019-0644-5

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