Penny Kyler

Recommendations for Effective Newborn Screening Communication: Results of Focus Groups With Parents, Providers, and Experts

OBJECTIVES. The aims of this study were to determine parent and provider knowledge and awareness of newborn screening; to gather opinions from parents, providers, and newborn screening professionals about the content and timing of newborn screening education; and to use consensus data to formulate recommendations and to develop educational materials for parents and providers. METHODS. We conducted 22 focus groups and 3 individual interviews between October 2003 and May 2004, with English- and Spanish-speaking parents of infants <1 year of age who had experience with initial testing, retesting, or false-positive screenings; health professionals who provide prenatal care or health care for newborns; and state newborn screening program health professionals. RESULTS. Parents and providers had limited knowledge and awareness about newborn screening practices. Parents wanted brief to-the-point information on newborn screening and its benefits, including the possible need for retesting and the importance of returning promptly for retesting if initial results are abnormal. Parents wanted the information orally from the primary care provider. Parents, providers, and newborn screening professionals all thought that an accompanying concise, easy-to-read brochure with contact information would be helpful. All focus group participants thought that parents should receive this information before the birth of the infant, preferably in the third trimester of pregnancy. Providers wanted a brief checklist of information and resources to prepare them to educate parents effectively. CONCLUSIONS. We recommend prenatal and primary care providers be more involved in educating parents about newborn screening. Professional societies and state health officials should work together to encourage parent and provider education. User-friendly patient and provider education materials, such as those we developed, could form the basis for this educational approach.

Educational Needs in Genetic Medicine: Primary Care Perspectives

Background/Aims: This study was performed to identify primary care physicians’ (PCPs) attitudes toward genetic medicine and their perceived needs for education in this area. Methods: Semistructured telephone interviews with 24 PCPs in the northwestern United States. Results: PCPs are interested in learning more about who should receive genetic testing and what tests are available. Training in counseling and risk communication is desired, as are ‘just-in-time’ resources to guide clinical decisions. Conclusions: PCPs are eager to learn about genetic medicine; however, their priorities may differ in emphasis from those put forward by genetics experts. Future educational efforts would do well to build on PCPs’ prior knowledge base, highlight the clinical relevance of genetic medicine to primary care practice, and emphasize ‘red flags’: cues to alert PCPs to a potential genetic contribution.

Personalizing prenatal care using family health history: identifying a panel of conditions for a novel electronic genetic screening tool

In the age of genomic medicine, family health history (FHH) remains an important tool for personalized risk assessment as it can inform approaches to disease prevention and management. In primary care, including in prenatal settings, providers recognize that FHH enables them to assess the risk for birth defects and complex conditions that not only affect the fetus health, but also the mothers. However, many providers lack the time to gather FHH or the knowledge to confidently interpret the data. Electronic tools providing clinical decision support using FHH data can aid the busy provider with data collection and interpretation. We describe the scope of conditions included in a patient-entered FHH tool that provides clinical decision support and point-of-care education to assist with patient management. This report details how we selected the conditions for which it is appropriate to use FHH as a means to promote personalized medicine in primary prenatal care.

Contents Vol. 11, 2008

L. Al-Gazali, Al-Ain A.H. Bittles, Perth A. Cao, Cagliari E.E. Castilla, Rio de Janeiro A.L. Christianson, Johannesburg A. de la Chapelle, Columbus, Ohio C.J. Epstein, San Francisco, Calif. E. Haimes, Newcastle upon Tyne P.S. Harper, Cardiff H. Harris, Manchester A. Kent, London B.M. Knoppers, Montreal M.J. Khoury, Atlanta, Ga. U. Kristoff ersson, Lund S. Metcalfe, Parkville A.G. Motulsky, Seattle, Wash. G. Neri, Rome I. Nippert, Münster C.N. Rotimi, Washington, D.C. P. Schroeder, Bielefeld Associate Editors