Invited commentary: The Covid-19 pandemic in the United States.

Despite being the wealthiest and one of the most technologically advanced countries in the world, the United States has the greatest number of Covid-19 cases and deaths. What accounts for this failure? The dismantling of the country's public health infrastructure has crippled contact tracing and exacerbated inequality as a disproportionate number of poor people and people of color have fallen ill with Covid-19. Inadequate regulation of the private for-profit sector has adversely affected the efficiency and quality of testing for the virus, and the prescription of costly drugs whose benefit and safety in treating infected patients have not been established. More stringent regulation of the commercial sector has led to the development of efficacious vaccines in a remarkably short time. Still, questions remain about the vaccines' effectiveness in the real world, and their safety.

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. RESULTS: X-linked families had better understanding of inheritance (P < 0.001) and reproductive risks (P < 0.01). X-linked mothers worried more about risks to future generations; other autosomal-recessive family members were as worried. X-linked mothers were more likely to feel guilty (P < 0.01) and blame themselves (P < 0.001). X-linked fathers blamed their child's mother (P < 0.05) and X-linked mothers felt more blamed by the father (P < 0.01). X-linked family-members were more likely to consider being a carrier stigmatizing (P < 0.05). CONCLUSION: When providing genetic counseling, attention should be given to guilt and blame in X-linked families and understanding reproductive risks in autosomal recessive families.

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. The analysis is limited to human genetics. RESULTS: Public support for basic genetic research has and will continue to lead to new applications and to further understanding of human origins and dispersions. Some applied research, particularly for genetic risk factors for common complex diseases, has low yield and is better supported by private funds. The only genetic service for which a public health role is paramount is newborn screening. With the patenting of genes, and the proliferation of commercial interests in genetic tests and directly advertising them to the public, regulation by public health agencies is increasingly important. As most genetic testing and other services will be provided in the personal health care system, education about genetics is best left to the educational and medical systems. Public health practitioners should be aware of the limitations of genetic tests. CONCLUSIONS: There is little need for further integration of genetic services and education into public health especially in countries in which public and private health services are dichotomized. Newborn screening and follow-up, however, are most safely and effectively provided under public health auspices. The most important area for strengthening the public health role is in the regulation of genetic tests and other genetic services provided primarily by the private sector. Continued support for basic genetic research is needed.

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 two primary outcome measures were withholding in verbal exchanges with colleagues about unpublished research (verbal withholding) and withholding as part of the publishing process (publishing withholding). The independent variables related to the personal characteristics, research characteristics of faculty, and previous experience with data withholding. RESULTS: A total of 1,849 faculty responded (64%): 1,240 geneticists and 600 OLS. Forty-four percent of geneticists and 32% of OLS reported participating in any one of 13 forms of data withholding in the three previous years. Publishing withholding (geneticists 35%, OLS 25%) was more frequent than verbal withholding (geneticists 23%, OLS 12%). In multivariate analyses, male gender, participation in relationships with industry, mentors' discouraging data sharing, receipt of formal instruction in data sharing, and negative past experience with sharing were significantly associated with either verbal or publishing withholding among either geneticists or OLS. CONCLUSIONS: Data withholding is common in biomedical science, takes multiple forms, is influenced by a variety of characteristics of investigators and their training, and varies by field of science. Encouraging openness during the formative experiences of young investigators may be critical to increased data sharing, but the effects of formal training do not appear straightforward.

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 45.5 +/- 13.8% (mean +/- SD) of relevant items. Stories appearing on television and stories reporting discoveries of genes for rare diseases were the least complete. Stories in non-US English-speaking newspapers included more content items per word than US stories. Less balanced stories exaggerated the benefits of discoveries, ignored possible risks, and did not present a range of expert opinion. Scientists were sometimes the source of exaggeration. CONCLUSIONS: To increase the quality of media reports about genetic discoveries, stories should include more relevant items and be written by journalists skilled in science writing. Scientists will have to resist the tendency to exaggerate. These conclusions may apply to media stories of other discoveries as well.

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. They agree on what makes genetics stories newsworthy and the particular challenges in reporting genetic discoveries (i.e., poor public understanding of genetics, the association of genetics with eugenics, and the lack of immediately apparent applications of genetic discoveries to human health). The relationship between scientists and bona fide science writers is largely positive. Scientists tend to trust, respect, and be receptive to science writers. Both scientists and science writers acknowledge that trust is an essential component of a good interview. Science writers report a fair degree of autonomy with respect to the relationship they have with their editors. CONCLUSION: To the degree that trust facilitates the access that science writers have to scientists, as well as higher quality interviews between scientists and science writers, trust might also contribute to higher quality media reporting. Therefore, scientists and science writers have an ethical obligation to foster trusting relationships with each other. Future research should systematically explore ways to cultivate such relationships and assess their impact on the quality of science journalism.

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. STUDY DESIGN: Key outcome variables in this cross-sectional survey were early adoption of a liquid-based test by the end of 1997 and overall adoption by the time of the survey. Adoption was viewed in terms of a supply and demand theoretical framework with marketing influencing physician and patient demand as well as supply by insurance companies and laboratories. DATA COLLECTION: Random samples of family physicians and gynecologists were selected from the AMA Master File of Physicians. The overall response rate was 61.9 percent. PRINCIPAL FINDINGS: By 2000, 96 percent of gynecologists and 75 percent of family physicians in Maryland were using liquid-based cervical cancer screening tests, most commonly the ThinPrep Pap Test. Gynecologists were more likely than family physicians to have been early adopters (34 percent versus 5 percent, p<.01). Part of this variation in adoption was due to aggressive marketing to gynecologists, who were more likely than family physicians to receive information in the mail from the test manufacturer (89 percent versus 56 percent, p<.01) and to have been informed by the manufacturer that a patient had inquired about physicians' use of the test (22 percent versus 8 percent, p<.01). CONCLUSIONS: The rapid diffusion of liquid-based cervical cancer screening tests occurred despite general agreement that the Pap smear has been one of the most successful cancer prevention interventions ever. Commercial marketing campaigns appear to contribute to the more rapid rate of diffusion of technology among specialists compared with generalists.

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). Girls were all aware that CGD is an inherited condition and each had made an assessment of her reproductive risk. All girls considered their parents to be their best source of information and support, but girls had trouble initiating discussions for fear of upsetting their parents. All girls and parents considered eventual carrier testing vital for reproductive decision-making and relationship-building. However, girls favored carrier testing at a later age and expressed more concerns about psychological risks associated with testing than did their parents. When faced with the hypothetical situation of being offered carrier testing "tomorrow," half of the parents and untested daughters disagreed on the desirability of the test, with parents more likely to favor testing. Including adolescent sisters in family-based genetic counseling that provides an opportunity for age-appropriate discussion of inheritance and the timing, risks, and benefits of carrier testing would be beneficial to them. Published 2003 Wiley-Liss, Inc.

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. Semi-structured surveys were distributed to all incoming houseofficers during Orientation at one major academic medical center. Eighty-one percent of 190 houseofficers returned a survey; 123 completed surveys were analyzed. Fifty-four percent of respondents thought the media message was only positive and 21% thought it was negative or mixed. Participants who reported radio as their media source were less likely to recall positive messages (p<0.05). Sixty-five percent and 76%, respectively, had positive perceptions of the impact of the accomplishment on people and on the medical profession. Overall, 48% were enthusiastic and 52% were guarded about the accomplishment. Enthusiasm was related to being an adult primary care houseofficer (p=0.07) or to having heard about it on television or in the newspaper (p<0.05). Of the 36 stories analyzed, newspaper and television reports focused more on medical implications and radio reports focused more on ethical issues. The degree of enthusiasm about the accomplishment reflects the content of the media coverage, and, at least for adult primary care houseofficers, probably reflects the increasing relevance of genetic discoveries to medical practice. Since physicians obtain much of their health and science information from the media, they can play an instrumental role in helping their patients interpret media coverage of advances in genetics and their impact on health care. However, this will require that physicians develop an appreciation of the newsmaking process, and how subtle interactions between politics, the media and science influence the "framing" of media coverage.