The impact of false-positive newborn screening results on families: a qualitative study.

PURPOSE: Newborn screening leads to improved treatment and disease outcomes, but false-positive newborn screening results may cause distress for parents. The purpose of this study was to describe the experiences of families who receive a false-positive newborn screening result in an attempt to discover ways to help improve the newborn screening communication process for families. METHODS: This was a qualitative study using two methods of data collection: in-depth, semistructured interviews and focus groups. Participants (N = 27) were parents whose children (ages 6-16 months) underwent follow-up testing after newborn screening and whose follow-up test results indicated that the newborn screening result was a false-positive. RESULTS: Our analysis found that parents who have a false-positive newborn screening result experience five distinct stages. Most parents did not report long-term negative impacts of the experience, but some experienced some residual worry. Participants described effective provider communication as key in mitigating stress. Some parents identified the experience as leading to positive outcomes. CONCLUSION: Identifying best practices for communication between the health care providers and parents is an essential component in improving the newborn screening process. Further research is needed to discover best practices for communication to minimize potential harm and maximize the benefits of newborn screening.

A blueprint for maternal and child health primary care physician education in medical genetics and genomic medicine: recommendations of the United States secretary for health and human services advisory committee on heritable disorders in newborns and children.

Primary health care providers will play an increasingly important role in delivering genetics-related services for women and children along the reproductive continuum. However, most primary health care providers have received little training in genetics or medical genomics to incorporate such services into routine care. A workshop was convened by the National Institutes of Health, the Centers for Disease Control and Prevention, and the Health Resources and Services Administration to identify practical strategies to educate primary care physicians involved in maternal and child health. These included developing a targeted curriculum for residency training programs, incorporating assessments of genetics and genomic medicine into the initial board certification process and the process for maintenance of certification, providing continuing medical education opportunities at national meetings, establishing an Internet-based repository of recommendations for primary care providers, and forming a learning collaborative to link primary care providers and specialists to evaluate strategies to improve care. Workgroup members underscored the importance of assessing the impact of these interventions on the process and outcomes of health care delivery. The recommendations from this workshop were presented to the United States Secretary for Health and Human Services' Advisory Committee on Heritable Disorders in Newborns and Children Subcommittee on Education and Training. The Subcommittee reviewed the report and put forth recommendations to the Committee, which were adopted by the Committee in September 2009.

Long-term outcomes of the "Genetics in Primary Care" faculty development initiative.

BACKGROUND AND OBJECTIVES: Between October 2000 and April 2001, 79 primary care physicians (PCPs) and 21 genetics professionals from 20 teaching medical universities across the United States participated in the Genetics in Primary Care (GPC) project (a national faculty development initiative for PCPs with teaching responsibilities). In 2004--2005, follow-up site visits and phone interviews were done to determine whether participation in the GPC faculty development program has had lasting effects on participants' teaching and clinical practices. METHODS: Site visits were performed at nine sites and individual phone interviews at remaining sites. The same questionnaire was used in both settings. Content analysis of responses was performed. RESULTS: Follow-up achieved responses at 19/20 sites, for a site-level response rate of 95%. All respondents reported having made changes to their formal and informal teaching practices. The majority of respondents (86% of phone interviews) also reported changes to their clinical practice, including an increased awareness of genetics in clinical situations and more appropriate referral patterns. All would recommend similar projects to colleagues, but some (32% of phone interviews) would advise assuring that certain conditions are present (eg, protected time, resources). CONCLUSION: GPC has had lasting effects on its participants' teaching and clinical practices.

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.

Healthy choices through family history: a community approach to family history awareness.

BACKGROUND: The importance of family health history data in health care is widely acknowledged. Few individuals report having collected this information from their own family. METHODS: This project implemented a community-based approach to design and pilot a linguistically and culturally appropriate family health history collection toolkit for two minority populations in Harrisburg, Pa. RESULTS: The toolkit relied on oral traditions and family stories as a way to successfully introduce genetics education and family health history to these populations. Participants not only found the tool engaging and culturally appropriate, they were also able to obtain information that they were likely to share with their physician. CONCLUSION: While limited in scope, this project provides a model to other communities for the design, pilot testing, and implementation of a community-based public health initiative regarding family health histories.

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 mother's. 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.

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.

Attitudes about genetics in underserved, culturally diverse populations.

OBJECTIVE: New medical discoveries regarding genetic susceptibility to common chronic diseases, and the decoding of the human genome have increased public attention to genetics. What information is understood and what attitudes exist towards genetics and genetic research have not been well examined in underserved, culturally diverse communities. METHODS: To better understand attitudes and beliefs towards genetics and genetic testing in these groups, we conducted eight focus groups with 55 patients and health care workers in New York City and Westchester, N.Y., in English, Spanish, and Chinese. RESULTS: Focus group participants had limited understanding about genetics or genetic testing. Newborn screening was the least-known genetic issue, even among health care workers. Regardless of their cultural group, most participants expressed a desire for more information about genetics and genetic tests. Latinos and Chinese participants generally expressed positive attitudes towards genetic studies and genetic testing, with the possibility of preventing diseases cited as the main advantage. Black Americans and Non-Hispanic Whites reported mixed feelings about genetic research and genetic testing. Concerns expressed included: anxiety before receiving test results or waiting for a disease to develop, fear of genetic discrimination by health and life insurance companies and employers, not having the financial means to deal with genetic diseases in themselves or a sick child, concern that children and adults are having too many tests. Black Americans expressed the most concern for possibly harmful use of genetic information. CONCLUSIONS: Minority populations of diverse cultures have limited knowledge about genetics and genetic testing, would like to have more information, and are not well reached by the current educational approaches. Participants knew the least about newborn screening, a test that is mandatory in the New York State. While genetic knowledge by minority populations was perhaps not different from the level of knowledge of consumers in general, minority populations are at particular risk of being left behind because of historically poor access to information and services.