Senior Genetic Counseling Assistant
Sophia Adelson, Bethany Zettler, Matthew S. Lebo, Hana Zouk, Elissa Murphy, Lisa M. Mahanta, Anna Nagy, Sheyenne Walmsley, Casie Genetti, Ingrid A. Holm, Robert C. Green
Robert C. Green
Research Category: Genomics
There is growing interest in expanded newborn screening using genome sequencing (GS), but it is a challenge to obtain DNA from healthy newborns. We explored whether capillary blood microsampling is acceptable to new parents and could yield sufficient DNA for GS.
Families were approached in the Brigham and Women’s Hospital well-baby nursery and informed consent was obtained. A research nurse performed a single heel stick and collected approximately 120 microliters of blood using a commercial microsampling kit (Neoteryx). Samples were stored at ambient temperature and DNA was extracted using a commercial kit. Parents completed a brief online survey 0-3 days after collection.
Twenty families were approached and oriented to the study and 12 provided consent. Reasons for decline were scheduling difficulties (n=4) or opposition to an extra heel stick (n=2). The 9 families who completed the survey reported their newborn felt “no pain” or “some pain.” Most parents (7/9) indicated they would be interested in genetic testing for their newborn, while two parents were unsure. Parents indicated equal preference for heel stick microsampling, saliva, and cheek swab (less invasive method) over venipuncture (more invasive method). All microsampling extractions yielded sufficient DNA for GS (average 1.8 micrograms).
Newborn screening (NBS) is a public health program using a small blood sample from a newborn’s heel to identify children with treatable health conditions. Genome sequencing (GS) could expand existing NBS, using primary DNA analysis to screen newborns for treatable genetic conditions. In this study, we tested whether an additional newborn heel stick could provide enough DNA for GS, and if parents would be interested in this option.
A research assistant approached families in the Brigham and Women’s Hospital well-baby nursery and explained the study. If informed consent was obtained, a research nurse performed the heel stick. Once the sample arrived at the laboratory, DNA was extracted and measured to test the process (without GS). Parents completed a brief survey after collection.
Twelve families provided consent to participate. Nine families completed the survey, all reporting their newborn felt “no pain” or “some pain.” Most parents (7/9) expressed interest in genetic testing for their newborn. All samples yielded enough DNA for GS. This study suggests that a heel stick may be effective for GS and that parents were generally interested in this option. Next, we will test this method in a larger cohort of healthy infants who will receive GS.