American Society of Human Genetics

Documenting variation in our genomes is important for research and clinical care. Accuracy in the description of DNA variants is therefore essential. To address this issue, the Human Variome Project convened a committee to evaluate the feasibility of requiring authors to verify that all variants submitted for publication complied with a widely accepted standard for description. After a pilot study of two journals, the committee agreed that requiring authors to verify thatvariants complied with Human Genome Variation Society nomenclature is a reasonable step toward standardizing the worldwide inventory of human variation.

Science standards have a long history in the United States and currently form the backbone of efforts to improve primary and secondary education in science, technology, engineering, and math (STEM). Although there has been much political controversy over the influence of standards on teacher autonomy and student performance, little light has been shed on how well standards cover science content. We assessed the coverage of genetics content in the Next Generation Science Standards (NGSS) using a consensus list of American Society of Human Genetics (ASHG) core concepts. We also compared the NGSS against state science standards. Our goals were to assess the potential of the new standards to support genetic literacy and to determine if they improve the coverage of genetics concepts relative to state standards. We found that expert reviewers cannot identify ASHG core concepts within the new standards with high reliability, suggesting that the scope of content addressed by the standards may be inconsistently interpreted. Given results that indicate that the disciplinary core ideas (DCIs) included in the NGSS documents produced by Achieve, Inc. clarify the content covered by the standards statements themselves, we recommend that the NGSS standards statements always be viewed alongside their supporting disciplinary core ideas. In addition, gaps exist in the coverage of essential genetics concepts, most worryingly concepts dealing with patterns of inheritance, both Mendelian and complex. Finally, state standards vary widely in their coverage of genetics concepts when compared with the NGSS. On average, however, the NGSS support genetic literacy better than extant state standards.

The translation of genomics into medicine would benefit from a public that has a strong foundation in core genetics principles and that is able to access, identify, and use reliable information. Unfortunately, public understanding of genetics is generally poor, a condition that can be traced to deficiencies in formal science education, weaknesses in representations of genetics in the media and on the Internet, and the limited knowledge and involvement of health care providers in patient education. Notwithstanding these challenges, the Internet, media, and health professionals likely will remain major sources of public education. Whether those sources contribute positively or negatively will depend, in part, on the public’s ability to discriminate high-quality from low-quality information and on health providers’ understanding of genetics and their willingness to engage in the genetics education of their patients.

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. Results: The toolkit relied on oral traditions and family stories as a way to successfully introduce genetics education and family health history to these populations. Participants not only found the tool engaging and culturally appropriate, they were also able to obtain information that they were likely to share with their physician. Conclusion: While limited in scope, this project provides a model to other communities for the design, pilot testing, and implementation of a community-based public health initiative regarding family health histories.

T here is good reason for pride in the growth of scientific knowledge and medical technology in the United States. But that cannot disguise the fact that the delivery of health care is broken and is not sustainable in its present form. Policy-makers need some direction about changes that might improve the system, and immediate action from the scientific community is needed to provide it. Corporate leaders, small business owners, workers, and taxpayers already are rebelling at the prospect of increases in health spending on the scale predicted by recent trends, while millions of Americans remain uninsured. But the boundaries set by current health care practices and financial support structures guarantee that their rebellion will fail. That's because the current system of health care delivery is inherently wasteful and driven more by tradition than by scientific principles. Thus we believe that the best hope for breaking this impasse is to incorporate scientific advances into new models of prospective health care delivery—models that can serve the dual goals of improving outcomes while controlling costs. Personalized health planning to anticipate and minimize each individual's risk for the onset and progression of disease is what our health care future will require. Many disciplines of the biological, physical, and social sciences can help insofar as they contribute to certain focused goals. For example, we need more powerful methods to identify individuals at the highest risk for the major chronic diseases—atherosclerosis, heart failure, cancer, diabetes, and neurodegenerative and psychiatric disorders—that account for the bulk of heath care expenditures. We need more effective countermeasures to delay the progression of these conditions at the earliest stage, before the underlying pathology becomes irreversible. We also must apply measures already known to have salutary effects. Information systems can now draw meaningful statistical inferences pertinent to each individual from massive data sets that include genomic data, imaging results, and biomarker analyses along with traditional clinical variables. Such evidence, made available to clinicians working at the point of care, can direct the most appropriate preventive and therapeutic actions. These capabilities are at hand, yet nothing at all like this happens today in U.S. clinics and hospitals. Worse, current payment systems punish providers who try to practice in a manner consistent with the best science. For example, a recent pilot program launched by our institution improved outcomes and reduced annual expenses for the care of patients with congestive heart failure from approximately $23,000 to $14,000 per patient. The financial consequences for our health system under current payment principles, however, were strongly negative, because patients stayed out of the hospital and avoided procedures that are relatively well reimbursed, while incurring somewhat greater expenses for ambulatory visits and patient education, for which payments do not meet costs. We call on government and private insurers to support demonstration projects to assess the efficacy of prospective health models based on scientific principles. Rationally based interventions that delay or prevent the progression of major chronic diseases could extend essential health services to all Americans and improve health outcomes within fiscally and politically sustainable economic limits. How will a radically new system of health care on a national scale earn the public trust and foster a political consensus that has never been realized before? The scientific community and its leadership must drive an accelerated application of current scientific capacity to novel health service models, organized to promote sustained advances based on personalized care targeted to high-risk individuals. The new models must be sufficiently persuasive to revise the political dialogue on health care and to secure the enthusiastic participation of physicians. If it's done right, such care will deliver improved outcomes, affordable payment mechanisms, enhanced patient safety, and far greater involvement of individuals in their own treatment. Such efforts also must protect privacy and insurability and respect a diversity of political, religious, and ethical viewpoints. We are directing our own academic medical center at Duke to this mission and call on our colleagues elsewhere to do so as well.