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.

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.

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.

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.

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.

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.

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.

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.