Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine

Despite rapid technical progress and demonstrable effectiveness for some types of diagnosis and therapy, much remains to be learned about clinical genome and exome sequencing (CGES) and its role within the practice of medicine. The Clinical Sequencing Exploratory Research (CSER) consortium includes 18 extramural research projects, one National Human Genome Research Institute (NHGRI) intramural project, and a coordinating center funded by the NHGRI and National Cancer Institute. The consortium is exploring analytic and clinical validity and utility, as well as the ethical, legal, and social implications of sequencing via multidisciplinary approaches; it has thus far recruited 5,577 participants across a spectrum of symptomatic and healthy children and adults by utilizing both germline and cancer sequencing. The CSER consortium is analyzing data and creating publically available procedures and tools related to participant preferences and consent, variant classification, disclosure and management of primary and secondary findings, health outcomes, and integration with electronic health records. Future research directions will refine measures of clinical utility of CGES in both germline and somatic testing, evaluate the use of CGES for screening in healthy individuals, explore the penetrance of pathogenic variants through extensive phenotyping, reduce discordances in public databases of genes and variants, examine social and ethnic disparities in the provision of genomics services, explore regulatory issues, and estimate the value and downstream costs of sequencing. The CSER consortium has established a shared community of research sites by using diverse approaches to pursue the evidence-based development of best practices in genomic medicine

A Decade of Research on Disparities in Medicare Utilization: Lessons for the Health and Health Care of Vulnerable Men

Medicare research has shown that there are substantial disparities by race and socioeconomic status in use of services. In this article, I review past research and discuss how findings apply specifically to vulnerable men aged 65 years or older. Six lessons from this review are identified and illustrated here. Disparities in certain measures of health are growing; to reverse this trend, substantial efforts are needed, including dissemination of information about disparities as well as testing of hypotheses regarding underlying causes

Understanding Disparities in the Use of Medicare Services

Unexpectedly, the use of health care services has been found to differ substantially across subgroups of a population covered by health insurance. In the Medicare program, persons at risk of poor health tend to use fewer of the types of services that healthier persons use to improve health and prevent disease. Relatively little is known about why patterns of health care among the elderly differ by race and socioeconomic status (SES). That disparities occur so persistently in a program such as Medicare, which was expected to equalize access to care, indicates that there are limitations to what health insurance alone can do to assure equal access to health care. The challenge is to determine what our society can do to ameliorate disparities in health care. Health policy experts from an earlier era can provide some insight into the dilemma of disparities in health care. Two books, published half a century ago, contain papers by members of the New York Academy of Medicine on social medicine, a term intended to evoke the complex interrelationships between health and society. Social medicine was defined in one paper as medical science in relation to groups of human beings. Underlying the concept of social medicine was the belief that medical science ought to approach health, notjust in terms of treating a patient\u27s illness, but also in terms of the whole of an individual\u27s life and society. The multitude of factors that influence health status and health care led one member of the Academy to observe that the problem of medical care is more complex than it is taken to be. One paper noted that social security and welfare programs do not change the existing social and economic order but mitigate the hardships created by it, noting (with considerable prescience) that health insurance does not guarantee health to the insured wage earner nor yet does it make public health measures superfluous. To understand the influence of poverty, education, and occupation on health, members of the Academy advocated an expansion of medical school curricula to include knowledge from the social sciences. As one writer stated, Medicine\u27s recognition of the part the social sciences play in the total health, either of the individual or of groups, will constitute a milestone in human progress