Genetic counselors' perspectives on genomic screening of apparently healthy newborns in the United States.

PURPOSE

There is growing international interest in using genomic sequencing to screen newborns and children for treatable genomic conditions. Although recent research has demonstrated increasing support for using genomic sequencing to screen newborns and children for treatable genomic conditions among various stakeholders, little is known about the perspectives of genetic counselors (GCs) in the United States, who are frequently engaged in the disclosure of positive newborn screening results and coordination of follow-up testing and management.

METHODS

This study utilized a cross-sectional 3-section survey to explore GCs' perspectives on the benefits, limitations, and ethical and practical considerations of genomic sequencing in newborns as an adjunct screen to standard newborn screening (NBS). Additionally, we evaluated GCs' views on specific genes that could be added to NBS via sequencing.

RESULTS

Of 176 GCs who participated in the study, most endorsed the addition of NBSeq for conditions that typically manifest in childhood and have a well-defined treatment or management protocol. Some perspectives, such as attitudes toward health inequity, varied by practice region. Most respondents endorsed 13 of 25 specific genetic conditions for inclusion in NBSeq.

CONCLUSION

Our findings demonstrate GCs' support for the expansion of NBS using genomic sequencing in the United States and the need for ongoing investigation of ethical and practical concerns related to its implementation.