How does the mode of inheritance of a genetic condition influence families? A study of guilt, blame, stigma, and understanding of inheritance and reproductive risks in families with X-linked and autosomal recessive diseases.

Purpose: While the mode of inheritance of a genetic condition has long been considered to have not only medical, but also psychosocial consequences for families, this supposition has never been tested.

Methods: We surveyed 112 members of 51 families (59% response) with chronic granulomatous disease to determine the influence of mode of inheritance on parents', siblings', and patients' (1) knowledge of inheritance and reproductive risk; (2) concern about risk to future family-members; (3) feelings of guilt and blame; and (4) feelings of stigmatization. Ninety-six members of 51 families (49% response) with Duchenne/Becker muscular dystrophy and spinal muscular atrophy types II/III were also studied.

What role for public health in genetics and vice versa?

Unlabelled: Some epidemiologists and geneticists claim that integrating genetics into public health policies and programs is necessary and unavoidable.

Objective: To examine the extent to which further integration of public health and genetics is warranted.

Methods: Synthesis of the literature in four areas: research, genetic services, regulation, and education.

Data withholding in genetics and the other life sciences: prevalences and predictors.

Purpose: To better understand the variety and prevalence of data withholding in genetics and the other life sciences and to explore factors associated with these behaviors.

Method: In 2000, a sample of 2,893 geneticists and other life scientists (OLS) at the 100 most research-intensive universities in the United States were surveyed concerning data withholding and sharing. The instrument was developed and pretested in 1999.

The quality of media reports on discoveries related to human genetic diseases.

Objectives: To examine (1) the quality of media reports (newspapers, television and public radio) of genetic discoveries with medical relevance and (2) factors related to the completeness and balance of the stories.

Methods: Analysis of the accuracy, balance, and completeness of 228 media stories reporting 24 genetic discoveries between 1996 and 2000 using a previously validated instrument.

Results: Although usually accurate, the stories contained only 45.

Scientists' and science writers' experiences reporting genetic discoveries: toward an ethic of trust in science journalism.

Purpose: To describe the relationship between scientists and science writers and their experiences with media reporting of genetic discoveries.

Methods: This study included individual interviews with 15 scientists who specialize in genetics and 22 science writers who have covered their stories and a qualitative analysis of the data.

Results: Scientists and science writers place an equally high priority on accuracy of media reports.

Ethical aspects of genetic testing in the workplace.

The European Group on Ethics and New Technologies, which advises the European Commission, has published an opinion paper on ethical aspects of genetic testing in the workplace. The paper goes well beyond the usual ethical issues, presenting a summary of genetic testing in the workplace in the United States and Europe and criteria for appropriate testing. Unlike many other documents on ethics, it pays close attention to the problem of false-positive and false-negative test results.

Adoption of liquid-based cervical cancer screening tests by family physicians and gynecologists.

Objective: To examine reasons for the adoption of liquid-based cervical cancer screening tests.

Data Sources/study Setting: A mailed survey of 250 family physicians and 250 gynecologists in Maryland in 2000. Additional data were obtained from the AMA Master File of Physicians.

Perceptions of reproductive risk and carrier testing among adolescent sisters of males with chronic granulomatous disease.

Although recent research has investigated the attitudes of parents, professionals, and adult siblings toward carrier testing of minors, no studies have focused on the experiences of minor siblings of individuals with X-linked and autosomal recessive conditions. To explore adolescent sisters' perceptions of their reproductive risks, attitudes toward carrier testing, and resources for information and support, we interviewed 14 parents and 9 sisters (ages 12-15) of males with chronic granulomatous disease (CGD), a primary immunodeficiency disorder inherited in both an X-linked recessive and autosomal recessive fashion. Our semistructured telephone interviews were audiotaped, transcribed, and subjected to template analysis (a common qualitative methodology).

Houseofficers' reactions to media coverage about the sequencing of the human genome.

After the announcement that sequencing of the human genome was nearly complete, media coverage was extensive. In light of ample evidence that the media are a primary source of health and science information, even for health professionals, media portrayals are often inaccurate or misleading, and discoveries that emanate from sequencing the human genome are likely to influence future health care, it is important to assess physicians' interpretations of media coverage about the human genome announcement. This paper describes the reactions of a sample of new physicians in the United States to this announcement, as well as the content of the stories they read or heard.

Does knowledge about the genetics of breast cancer differ between nongeneticist physicians who do or do not discuss or order BRCA testing?

Purpose: To assess nongeneticist physicians' knowledge and experience with BRCA1/2 testing.

Methods: In 1998, 2250 internists, obstetrician-gynecologists (Ob-Gyns), and oncologists practicing in Pennsylvania, Maryland, Massachusetts, New York, or New Jersey were surveyed.

Results: Forty percent responded.

Physicians' propensity to offer genetic testing for Alzheimer's disease: results from a survey.

Purpose: Examine physician knowledge, preferences, and use of genetic tests for Alzheimer's disease (AD).

Methods: Survey of 426 community-based physicians treating AD patients.

Results: Majority gave inaccurate estimates of AD risk.

Primary care and genetic services. Health care in evolution.

The demand for services for predicting, diagnosing, and managing genetic diseases or diseases with a genetic component is likely to increase faster than the availability of services from medical geneticists and genetic counselors. Health care systems may also impose limitations on referrals to these specialists. If genetic problems are not to be missed and excessive referrals are to be avoided, non-geneticist practitioners will have to recognize when genetic problems should be considered, and initiate diagnosis and even management.

Mapping the human genome: an assessment of media coverage and public reaction.

Purpose: To assess public reactions to the June 26, 2000, announcement that scientists had nearly finished mapping the human genome.

Methods: We conducted a random-digit telephone survey of 407 Maryland residents as well as a content analysis of 55 relevant media reports.

Results: African Americans were more likely than Caucasians to report a negative reaction (P < 0.