Improvement of communication process and outcomes after newborn genetic screening

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Background: Many authors have raised ethical, legal, and social concerns about the use of screening tests that also identify genomic information not immediately relevant to a disease. Newborn screening identifies cystic fibrosis (CF) and sickle cell hemoglobinopathy (SCH) early, but at the cost of psychological harm that develops in a substantial minority of parents whose infants are found to be heterozygous for CF or SCH. Primary care providers' limited genetic knowledge and communication skills may then lead to disparities in communication outcomes. This project is intended to help public health to develop a mechanism for early identification and treatment of psychosocial problems that develop after newborn genetic screening. Aims: [Aim 1] To closely examine and clarify the communication experience of parents after newborn screening identifies an infant as a carrier for sickle cell or cystic fibrosis, including [1a] the frequency of ideal communication behaviors likely to be experienced in primary care, and [1b] knowledge, misconceptions, scores on Marteau's 6-item version of the Spielberger state-anxiety subscale and the vulnerable baby scale. [Aim 2] To investigate factors that may influence parents' psychosocial and cognitive outcomes after newborn screening identifies an infant as a carrier for sickle cell or cystic fibrosis, including [2a] the frequency of ideal communication behaviors likely to be experienced in primary care, [2b-c] parents' report about counseling from the primary care provider and other sources, and [2d] interaction effects with other factors such as parents' reported prior knowledge and individual characteristics of parents and providers. Methods: This project will be conducted under statutory authority of the Wisconsin Department of Health and Family Services. The study will recruit parents and primary care providers of infants found via newborn screening to be heterozygous for SCH or CF will be recruited using a series of mailings and telephone calls designed to maximize safety and respect for privacy. Investigators will (a) contact primary care providers and invite them to rehearse on tape what will be said to parents, and (b) conduct a telephone interview with parents 4 months later to ask about anxiety, misconceptions and other psychosocial problems. Interview transcripts will be abstracted to obtain process and outcome data using explicit-criteria methods from previous studies. Anonymous written surveys will be used to evaluate the interview process. Significance: It is hypothesized that a substantial minority of parents experience psychological or cognitive problems after newborn screening and that many primary care providers fail to adequately communicate screening results. This study may be able to shed better light on associations between these two problems, and also demonstrate a statewide mechanism for following up on psychosocial risks. Progress in this area may address many ethical concerns and generalize to other areas of communication in health care.