Risk for ingestion of toxic substances in children with Prader-Willi syndrome.

Individuals with Prader-Willi syndrome (PWS) have several common findings that may predispose to ingestion of potentially dangerous items. This study examined whether individuals with PWS have an increased prevalence of toxic ingestions. A survey regarding history of ingestions in PWS individuals and sibling controls was designed, piloted, and distributed on-line. The subjects were individuals with PWS (N = 129). The subjects' non-PWS siblings served as controls (N = 134). Participants who completed the anonymous online survey were either the parents or the primary caretaker of individuals with PWS. Responses were submitted by 141 participants, providing information about 130 PWS subjects (M/F: 66:64) and 134 sibling controls. Subjects and controls ranged in age from 2 to 18 years at the time of the survey. Eleven participants did not answer the questions regarding ingestions. History of toxic ingestion was more prevalent in PWS subjects (20% vs. 2% of controls). Several features of PWS, including history of searching for food and eating unusual objects, along with decreased cognitive ability, appeared to associate with increased prevalence of toxic ingestion in PWS individuals. PWS children appear to have an ∼12-fold increased risk of ingesting toxins compared to the general population. Geneticists should include this information in counseling and in recommendations to primary care providers. Also, poison control centers need to be aware of this association and of the physiological and behavioral aspects of PWS that may complicate the diagnosis and management of a toxic ingestion.

The use of a family history risk assessment tool within a community health care system: views of primary care providers.

Primary care providers (PCPs) offered input regarding the incorporation of a family health history (FHH) risk assessment tool into a community health care system (CHCS). Sixteen PCPs participated in one of three focus groups. Perceived impediments included the lack of standard screening guidelines, effective screening tests, genetic counseling resources, and services for high-risk patients. The PCPs were concerned about their level of expertise, the cost of preventive health care, and genetic discrimination. They also were concerned about the use of a FHH tool by oncologists within the CHCS because of communication gaps between oncologists and PCPs, lack of clarity regarding follow-up and legal liability, and reimbursement issues. To integrate a FHH tool into a CHCS, PCPs will need consultation and referral services, evidence-based recommendations, and "just-in-time" educational resources. Oncologists who use the tool will need to develop a streamlined communication system with PCPs, establish clearly defined roles, and ensure patient follow-up.

Findings from a community education needs assessment to facilitate the integration of genomic medicine into primary care.

PURPOSE: To assess the lay public's knowledge of, and beliefs about, genetics and genetic testing to create an educational initiative that promotes acceptance and utilization of genomic medicine in primary health care. METHODS: A telephone survey of English-speaking adults in Guilford County, North Carolina was conducted in 2006 to identify community members' educational needs regarding genetics and genetic testing. RESULTS: Most respondents recognized the connection between family history and disease risk. A majority did not appear to know about: (1) basic principles of inheritance, (2) laws prohibiting genetic discrimination, and (3) the availability and limitations of genetic tests. About 25% thought that they could not reduce their risk if they have a genetic predisposition for disease. Knowledge level was affected by education, experience, age, and race. CONCLUSION: If primary care providers use family history as a risk assessment tool, community education programs must address (1) the collection of family health history, (2) legislation regarding genetic nondiscrimination, (3) benefits and limitations of existing genetic tests, and (4) genetic determinism. Programs emphasizing practical, "how to" information can be targeted to individuals likely to collect family history information and address misperceptions about discrimination, testing, and determinism.

Expanding roles: a survey of public health genetic counselors.

According to the 2008 National Society of Genetic Counselors (NSGC) Professional Status Survey (PSS), 31 genetic counselor respondents reported spending at least 50% of their time in the area of public health. The NSGC Public Health Special Interest Group (PHSIG) had 49 dues-paying members in 2009. The purpose of this study was to identify the work settings and public health activities in which genetic counselors participate. A novel online survey was disseminated over the NSGC PHSIG Listserv. Forty-one percent (n = 13) of public health genetic counselor respondents worked in a university medical system, while 53% (n = 17) were grant-funded and held a non-clinical appointment. The most common public health activities included educating healthcare professionals (82%) and community members (61%), research (55%), grant writing (55%) and grant administration (36%). Most respondents (82%) reported learning certain public health skills outside of their genetic counseling training programs. Differences in work settings were found, with a significantly greater percentage of public health genetic counselors working in government agencies. Genetic counselors have opportunities to become involved in public health activities as the scope of public health genetics grows. Furthermore, genetic counseling competencies are compatible with the Institute of Medicine's "10 Essential Public Health Services." The NSGC and genetic counseling training programs are encouraged to offer more public health learning opportunities for genetic counselors and genetic counseling students interested in this specialty area.