Caroline “Calli” Mitchell, BS

She/Her/Hers
Research Project Manager
Obstetrics and Gynecology
Genetics
SEQaBOO (SEQuencing a Baby for an Optimal Outcome)

Principal Investigator: Cynthia C. Morton

Authors: CO Mitchell, ABS Giersch, J Shen, SS Amr, KT Booth, MHK Chau, YI Chekaluk, KW Choy, MS Cohen, Z Dong, KE Gregory, J Hochschild, LJ Johnson, MA Kenna, AE Lorenzo, L McGrath, J Perry, AE Shearer, M Stenerson , CC Morton
Lay Abstract

Congenital hearing loss (HL) is highly prevalent in children worldwide. Because greater than 50% of congenital HL has a genetic etiology and current newborn hearing screening (NBHS) consists only of physiologic testing, comprehensive NBHS including genetic testing could lead to earlier interventions and improved outcomes.

SEQaBOO is a pilot study providing genomic sequencing (GS), including testing for congenital CMV (cCMV) infection offered to participants alongside standard physiologic NBHS. Families are eligible if their newborn refers on NBHS or after a confirmatory audiometry appointment. Participants can choose to enroll in comprehensive GS and variant interpretation for hearing related genes, and parents may opt to receive ACMG secondary findings. Parents can elect to enroll in the annual survey-only study arm. Annual surveys collect data on health information, family medical history, and evolving attitudes on genomic medicine.

164 families have elected to participate in SEQaBOO, including survey only (n=79), GS for HL genes only plus annual surveys (n=18), and GS for HL and secondary findings plus annual surveys (n=67). Of these SEQaBOO babies ultimately diagnosed with HL (n=28), a genetic etiology of GJB2 and SLC26A4 variants was reported (n=6). While enrollment is ongoing, initial analysis confirms the added benefits of comprehensive NBHS.

Scientific Abstract

Congenital hearing loss (HL) is highly prevalent in children worldwide. Because greater than 50% of congenital HL has a genetic etiology and current newborn hearing screening (NBHS) consists only of physiologic testing, comprehensive NBHS including genetic testing could lead to earlier interventions and improved outcomes.

SEQaBOO is a pilot study providing genomic sequencing (GS), including testing for congenital CMV (cCMV) infection offered to participants alongside standard physiologic NBHS. Families are eligible if their newborn refers on NBHS or after a confirmatory audiometry appointment. Participants can choose to enroll in comprehensive GS and variant interpretation for hearing related genes, and parents may opt to receive ACMG secondary findings. Parents can elect to enroll in the annual survey-only study arm. Annual surveys collect data on health information, family medical history, and evolving attitudes on genomic medicine.

164 families have elected to participate in SEQaBOO, including survey only (n=79), GS for HL genes only plus annual surveys (n=18), and GS for HL and secondary findings plus annual surveys (n=67). Of these SEQaBOO babies ultimately diagnosed with HL (n=28), a genetic etiology of GJB2 and SLC26A4 variants was reported (n=6). While enrollment is ongoing, initial analysis confirms the added benefits of comprehensive NBHS.

Clinical Implications
Hearing loss creates challenges during development for individuals and impacts quality of life. However, early detection and intervention reduce developmental deficits for individuals with hearing loss and limit financial burden on families, the education system and health care system.

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