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Yumeng Wu
Pronouns
She/Her/Hers
Job Title
Research Intern
Academic Rank
Department
Pathology
Authors
Yumeng Wu, Calli O. Mitchell, Anne B. S. Giersch, Matthew Hoi Kin Chau, Zirui Dong, Kwong Wai Choy, Jun Shen, Sami Amr, Cynthia C. Morton
Principal Investigator
Cynthia C. Morton
Research Category: Genomics
Tags
Congenital deafness and hard of hearing (DHH) is one of the most prevalent chronic conditions in children worldwide, however, current physiologic newborn hearing screening (NBHS) does not provide genetic diagnosis, which accounts for more than 50% of congenital DHH etiologies. SEQaBOO is a pilot study providing comprehensive genomic sequencing (GS), which includes genome-wide analysis for structural rearrangements, absence of heterozygosity, and pathogenic copy number variants in genes associated with DHH. Parents of newborns referred on NBHS or with confirmatory audiometry appointments can choose to enroll in comprehensive GS, including ACMG secondary findings v3.0 (for parents only), and(or) survey, which collects data on health information, family medical history, and evolving attitudes on genomic medicine.
To date, 192 families have elected to participate in SEQaBOO, including survey only (n=92), GS for HL genes only plus surveys (n=21), and GS for HL and secondary findings plus surveys (n=79). Feedback from parental surveys remains positive with 68.9% of parents acknowledging the benefits of receiving genome sequencing results on their children as part of SEQaBOO, 97% indicating the importance of routine newborn screening as a medical screen for newborns, and 81% of parents acknowledging health benefits associated with newborn genomic sequencing.
Congenital deafness and hard of hearing (DHH) is one of the most prevalent chronic conditions in children worldwide, however, current physiologic newborn hearing screening (NBHS) does not provide genetic diagnosis, which accounts for more than 50% of congenital DHH etiologies. SEQaBOO is a pilot study providing comprehensive genomic sequencing (GS), which includes genome-wide analysis for structural rearrangements, absence of heterozygosity, and pathogenic copy number variants in genes associated with DHH. Parents of newborns referred on NBHS or with confirmatory audiometry appointments can choose to enroll in comprehensive GS, including ACMG secondary findings v3.0 (for parents only), and(or) survey, which collects data on health information, family medical history, and evolving attitudes on genomic medicine.
To date, 192 families have elected to participate in SEQaBOO, including survey only (n=92), GS for HL genes only plus surveys (n=21), and GS for HL and secondary findings plus surveys (n=79). Feedback from parental surveys remains positive with 68.9% of parents acknowledging the benefits of receiving genome sequencing results on their children as part of SEQaBOO, 97% indicating the importance of routine newborn screening as a medical screen for newborns, and 81% of parents acknowledging health benefits associated with newborn genomic sequencing.
