| Autor: |
Terek S; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Del Rosario MC; Division of Genetics & Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, MA 02115, USA., Hain HS; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Children's National Hospital, Rare Disease Institute, Washington, DC 20010, USA., Connolly JJ; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Behr MA; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Harr M; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Hakonarson H; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Department of Pediatrics, The Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Division of Pulmonary Medicine, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Holm IA; Division of Genetics & Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, MA 02115, USA.; Harvard Medical School, Boston, MA 02115, USA. |
| Abstrakt: |
The electronic MEdical Records and GEnomics (eMERGE) consortium will return risk reports pertaining to specific diseases, a key component of which will be polygenic risk scores (PRS), to 25,000 participants, including 5000 children. Understanding comprehension and the perceived value of these PRS-based reports among parents will be critical for effective return of results in children. To address this issue, we conducted semi-structured interviews with 40 African American and Hispanic parents at The Children's Hospital of Philadelphia and Boston Children's Hospital. Each participant received a hypothetical risk report identifying their child as high risk for either type 2 diabetes or asthma. Participants were assessed on their comprehension of absolute versus relative risk framing, likelihood of following risk-reduction recommendations, perceived value of the information, psychosocial impact, education/support needed, and suggestions to improve the PRS-based report to make it more accessible. Results demonstrated high perceived value in receiving PRS-based reports but also draws attention to important shortfalls in comprehension due to factors including the health of the child, family history, and how the risk was framed. This study provides an insight into implementing the return of genomic risk scores in a pediatric setting. |
