Neonatologists’ Attitudes About Diagnostic Whole-Genome Sequencing in the NICU

Abstract

Mr Knapp and Drs Decker and Lantos wrote, reviewed, and revised the manuscript and approved the final manuscript as submitted.This trial has been registered at www. clinicaltrials. gov (identifier NCT02422511). NIHUsing focus group methodology, we studied the attitudes of neonatologists regarding diagnostic rapid genome sequencing for newborns who were critically ill in a NICU. One focus group took place within the first year after whole-genome sequencing testing became available, and another focus group took place 3 years later. Focus groups were audiotaped, transcribed, and analyzed by using standard techniques of grounded theory. Different analysts coded them for themes. The analysts then discussed differences and agreed on major themes. Twelve doctors participated in the first focus group, and 9 doctors participated in the second; 62% were attending physicians, and the rest were fellows. There were 14 women and 7 men. We did not collect any other demographic information on participants. Surprisingly, we found few differences between the earlier focus group and the later one. Comments were categorized as falling into 4 domains: (1) uncertainty about the interpretation of results, (2) issues about parental consent and limits on their right to know genomic information, (3) different opinions about whether and how genomic results could be clinically useful, and (4) potential harms of genomic testing. abstract by guest on July 10, 2020 www.aappublications.org/news Downloaded from POTENTIAL CONFLICT OF INTEREST: The authors have indicated they have no potential conflicts of interest to disclose.

Preparing Medical Specialists to Practice Genomic Medicine: Education an Essential Part of a Broader Strategy

“…A similar lack of preparedness is emerging from the genomics literature, with specialists mostly expressing low confidence in their understanding of, and ability to use, somatic or germline genomic tests (Bonter et al, 2011; Selkirk et al, 2013; Gray et al, 2014; Amara et al, 2018; Deininger et al, 2019; Knapp et al, 2019) but self-reporting familiarity with basic genetic concepts (Stanek et al, 2012; Chow-White et al, 2017). Knowledge and confidence have often been shown to be highest among oncologists compared with other specialties (Bonter et al, 2011; Stanek et al, 2012); however, confidence levels are even relatively low among this experienced group of genetic/genomic test users, particularly with regards to germline results (Chow-White et al, 2017; Johnson et al, 2017; Weipert et al, 2018).…”

“…Some oncologists (Gray et al, 2014; Chow-White et al, 2017; Johnson et al, 2017), pediatric neurologists (Jaitovich Groisman et al, 2017), and neonatologists (Knapp et al, 2019) believed that genomic tests would be useful for facilitating diagnoses and family planning, guiding treatment selection, or aiding disease surveillance. Yet, across studies, many specialists questioned the current utility of genomic testing (Miller et al, 2014; Chow-White et al, 2017; Deininger et al, 2019; Knapp et al, 2019), with few treatments available and genomic information yet to be fully deciphered.…”

“…Of the limited studies conducted to date, concerns raised included genomic test access and cost (Helman et al, 2016; Chow-White et al, 2017; Jaitovich Groisman et al, 2017), lack of evidence and clinical guidelines (Bonter et al, 2011; Stanek et al, 2012; Amara et al, 2018), and the potential for genomic tests to cause psychological harm or impede insurance access (Johnson et al, 2017; Deininger et al, 2019; Knapp et al, 2019). These concerns linger from the genetics era, with additional worries arising from the complexity, volume, and uncertain nature of the data generated (Miller et al, 2014; Christensen et al, 2016; Gray et al, 2016; Knapp et al, 2019). For instance, some oncologists (Gray et al, 2016; Weipert et al, 2018) and cardiologists (Christensen et al, 2016) participating in various genomics studies were worried about being burdened with the responsibility of disclosing additional findings (e.g., cancer predispositions or conditions that lay outside their specialty).…”

Delivering genome sequencing for rapid genetic diagnosis in critically ill children: parent and professional views, experiences and challenges

“…Studies in the US [ 15 ] and Canada [ 16 ] have examined parental experiences of RGS in the NICU only. Professional attitudes have been explored in the US [ 17 – 19 ] and Australia [ 20 ] and consider neonatal and paediatric settings. Here we describe qualitative research conducted with UK professionals and parents of critically ill children, across neonatal and paediatric age groups, offered RGS in a UK research study conducted within an NHS clinical practice setting [ 9 ].…”

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

“…Clinicians caring for critically ill children have differing opinions on the usefulness of GS results for clinical care and concerns about the inability to interpret many findings from GS that may cause uncertainty or confusion for families. 4,5 Clinicians and ethicists have also raised concerns about potential harms to patients and families through unwelcome information, parental blame, breaches of genetic privacy, discrimination, moral distress over the use of or waiting on GS to facilitate life-limiting decisions, and societal stigmatization of individuals with disabilities. [4][5][6][7] While some parents of infants have shared concerns about privacy and unfavorable results 8 , this is reported to occur at lower rates than in clinicians.…”