Standards for the Reporting of Genetic Counseling Interventions in Research and Other Studies (GCIRS): an NSGC Task Force Report.

As the demand for evidence to support the value of genetic counseling increases, it is critical that reporting of genetic counseling interventions in research and other types of studies (e.g. process improvement or service evaluation studies) adopt greater rigor. As in other areas of healthcare, the appraisal, synthesis, and translation of research findings into genetic counseling practice are likely to be improved if clear specifications of genetic counseling interventions are reported when studies involving genetic counseling are published. To help improve reporting practices, the National Society of Genetic Counselors (NSGC) convened a task force in 2015 to develop consensus standards for the reporting of genetic counseling interventions. Following review by the NSGC Board of Directors, the NSGC Practice Guidelines Committee and the editorial board of the Journal of Genetic Counseling, 23 items across 8 domains were proposed as standards for the reporting of genetic counseling interventions in the published literature (GCIRS: Genetic Counseling Intervention Reporting Standards). The authors recommend adoption of these standards by authors and journals when reporting studies involving genetic counseling interventions.

Socioeconomic influences on the effects of a genetic testing direct-to-consumer marketing campaign.

Direct-to-consumer marketing of genetic tests is beginning to appear in select markets, and little independent evaluation has been conducted on the effects of this marketing on consumer attitudes or behavior. The purpose of this paper is to identify the effects of socioeconomic status on women's reactions to such a campaign, including knowledge of the test, perceptions of personal risk, communications with others about the test, and interest in pursuing the test. The only United States provider of genetic testing for breast and ovarian cancer susceptibility (BRCA1/2 testing) conducted a pilot marketing campaign that targeted women aged 25-54 and their health care providers in 2 cities, Atlanta, Ga., and Denver, Colo. The design for the evaluation was a post campaign consumer survey, based on a cross-sectional stratified random sample of women in the 2 intervention sites and 2 comparison sites. The campaign had no differential impact by socioeconomic status. However, there was a consistent relationship between socioeconomic status and several outcome variables, including knowledge of the test, beliefs about the test, and desire to know about genetic risk. These data indicate that socioeconomic status may play a role in uptake of genetic services, regardless of response to a media campaign.

Folic acid supplementation and risk for imperforate anus in China.

Maternal consumption of folic acid before pregnancy and during early pregnancy is associated with a reduced risk for some birth defects. Whether folic acid can reduce the risk for imperforate anus is unknown. As part of a public health campaign conducted in China from 1993 through 1995, the outcomes of pregnancies of > or =20 weeks' gestation were evaluated among women using folic acid supplements. The women were asked to take one pill containing 400 microg of folic acid (without other vitamins) every day from the time of their premarital examination until the end of their first trimester of pregnancy. Rates of imperforate anus and risk ratios for imperforate anus among the offspring of these women were calculated according to folic acid use. Among the offspring of women who took folic acid and women who did not take folic acid, 20 and 30 infants with imperforate anus were identified, respectively. The rate of imperforate anus was 3.1 per 10,000 among the offspring of women who did not take folic acid and 1.6 per 10,000 among the offspring of women who took folic acid; adjusted for maternal age, the risk ratio was 0.59 (95% confidence interval: 0.33, 1.07). Daily maternal consumption of 400 microg of folic acid before and during early pregnancy may reduce the risk for imperforate anus.

Malaria early warning in Kenya.

Kenya displays large spatiotemporal diversity in its climate and ecology. It follows that malaria transmission will reflect this environmental heterogeneity in both space and time. In this article, we discuss how such heterogeneity, and its epidemiological consequences, should be considered in the development of early warning systems for malaria epidemics.

Forecasting disease risk for increased epidemic preparedness in public health.

Emerging infectious diseases pose a growing threat to human populations. Many of the world's epidemic diseases (particularly those transmitted by intermediate hosts) are known to be highly sensitive to long-term changes in climate and short-term fluctuations in the weather. The application of environmental data to the study of disease offers the capability to demonstrate vector-environment relationships and potentially forecast the risk of disease outbreaks or epidemics. Accurate disease forecasting models would markedly improve epidemic prevention and control capabilities. This chapter examines the potential for epidemic forecasting and discusses the issues associated with the development of global networks for surveillance and prediction. Existing global systems for epidemic preparedness focus on disease surveillance using either expert knowledge or statistical modelling of disease activity and thresholds to identify times and areas of risk. Predictive health information systems would use monitored environmental variables, linked to a disease system, to be observed and provide prior information of outbreaks. The components and varieties of forecasting systems are discussed with selected examples, along with issues relating to further development.

Etiology of interepidemic periods of mosquito-borne disease.

Dengue viruses and malaria protozoa are of increasing global concern in public health. The diseases caused by these pathogens often show regular seasonal patterns in incidence because of the sensitivity of their mosquito vectors to climate. Between years in endemic areas, however, there can be further significant variation in case numbers for which public health systems are generally unprepared. There is an acute need for reliable predictions of within-year and between-year epidemic events. The prerequisite for developing any system of early warning is a detailed understanding of the factors involved in epidemic genesis. In this report we discuss the potential causes of the interepidemic periods in dengue hemorrhagic fever in Bangkok and of Plasmodium falciparum malaria in a highland area of western Kenya. The alternative causes are distinguished by a retrospective analysis of two unique and contemporaneous 33-year time series of epidemiological and associated meteorological data recorded at these two sites. We conclude that intrinsic population dynamics offer the most parsimonious explanation for the observed interepidemic periods of disease in these locations.

Climate and satellite indicators to forecast Rift Valley fever epidemics in Kenya.

All known Rift Valley fever virus outbreaks in East Africa from 1950 to May 1998, and probably earlier, followed periods of abnormally high rainfall. Analysis of this record and Pacific and Indian Ocean sea surface temperature anomalies, coupled with satellite normalized difference vegetation index data, shows that prediction of Rift Valley fever outbreaks may be made up to 5 months in advance of outbreaks in East Africa. Concurrent near-real-time monitoring with satellite normalized difference vegetation data may identify actual affected areas.

Genetic services for common complex disorders: surveys of health maintenance organizations and academic genetic centers.

PURPOSE: To learn the extent to which HMOs and academic genetic centers (1) are involved in predictive genetic tests for common, complex disorders and (2) interact with each other. METHODS: Surveys of HMO medical directors and directors of U.S. academic genetic centers. RESULTS: In 1996, approximately 28% of HMOs were covering predictive tests for breast and colon cancer, but 75% of all medical directors said their HMO would consider policies regarding predictive testing in the next 5 years. Approximately 80% of directors of academic genetic centers said they provided genetic counseling services for common adult-onset disorders for patients covered by managed care organizations (MCOs), but they ranked the volume of services they provide for pediatric and prenatal indications much higher. Most academic genetic centers (72%) have contracts with MCOs. CONCLUSION: Although genetic services are being provided by academic genetic centers to patients who are members of managed care organizations, many patients with whom genetic testing for adult onset disorders is discussed may never see a geneticist. Academic genetic centers should educate nongeneticist professionals about the use of tests for common disorders.

Abuse of residents: it's time to take action.

The scientific study of the sexual dynamics that come into play during residency training seems to both fascinate and repel trainees and their supervisors. One of the more provocative and shameful dimensions of this area of inquiry, the abuse of residents, causes a good deal of distress. How do we respond to findings of significant psychological abuse, discrimination on the basis of sex or sexual orientation and sexual harassment in medical settings? How can we ignore over a decade of research? How can we not heed the experience of so many young physicians? Given the uncertain times in Canadian medicine and the insecurity in our professional and personal lives, we must work together to improve the culture of our teaching institutions and implement measures nationally and locally to close this dark chapter.