Dorene S. Markel

Recommendations for standardized human pedigree nomenclature

The construction of an accurate family pedigree is a fundamental component of a clinical genetic evaluation and of human genetic research. Previous surveys of genetic counselors and human genetic publications have demonstrated significant inconsistencies in the usage of common pedigree symbols representing situations such as pregnancy, termination of pregnancy, miscarriage, and adoption, as well as less common scenarios such as pregnancies conceived through assisted reproductive technologies. The Pedigree Standardization Task Force (PSTF) was organized through the Professional Issues Committee of the National Society of Genetic Counselors, to establish recommendations for universal standards in human pedigree nomenclature. Nomenclature was chosen based on current usage, consistency among symbols, computer compatibility, and the adaptability of symbols to reflect the rapid technical advances in human genetics. Preliminary recommendations were presented for review at three national meetings of human genetic professionals and sent to >100 human genetic professionals for review. On the basis of this review process, the recommendations of the PSTF for standardized human pedigree nomenclature are presented here. By incorporating these recommendations into medical genetics professional training programs, board examinations, genetic publications, and pedigree software, the adoption of uniform pedigree nomenclature can begin. Usage of standardized pedigree nomenclature will reduce the chances for incorrect interpretation of patient and family medical and genetic information. It may also improve the quality of patient care provided by genetic professionals and facilitate communication between researchers involved with genetic family studies.

The Interface Between the Practice of Medical Genetics and Human Genetic Research: What Every Genetic Counselor Needs to Know

Genetic counselors have historically used human genetic research as an advanced information resource for their patients. Most commonly, this has been via access to information provided by gene identification studies in advance of commercial testing. More recently genetic counselors have been participating in human genetic research studies as part of the investigative team. This review provides a framework to help genetic counselors in research and clinical practice understand the historical perspectives, ethical principles, and federal regulations that govern the current practice of human subject research. Special consideration is given to∼the IRB process and unique issues in human genetic research. This overview is intended to help improve the ability of genetic counselors to act as advocates for their patients.

The CTSA Mandate: Are We There Yet?

The ultimate aim of the National Institutes of Health Clinical and Translational Science Award (CTSA) initiative is to accelerate the movement of discoveries that can benefit human health into widespread public use. To accomplish this translational mandate, the contributions of multiple disciplines, such as dentistry, nursing, pharmacy, public health, biostatistics, epidemiology, and bioengineering, are required in addition to medicine. The research community is also mandated to establish new partnerships with organized patient communities and front line health care providers to assure the bidirectional flow of information in order that health priorities experienced by the community inform the research agenda. This article summarizes current clinical research directives, the experience of the University of Michigan faculty during the first 2 years of CTSA support, and recommendations to enhance the effectiveness of future CTSA as well as other interdisciplinary initiatives. While the manuscript focuses most closely on the CTSA Community Engagement mission, the challenges to interdisciplinarity and bidirectionality extend beyond the focus of community engagement.

Increasing health research literacy through outreach and networking: Why translational research should matter to communities

Background: Increasingly clinical and health research awareness is a priority for health and medical research communities. Translational research, including the prevention and treatment of conditions, relies upon proper funding as well as public participation in research studies. This requires executing more effective communication strategies to care for recipients and the community at large – providing the downstream benefit to improved public health and patient care. Without new and improved approaches, recruiting research volunteers will remain a significant challenge for clinical research teams, particularly as limited funding necessitates smaller budgets and shorter timelines to engage participants. Objective: This community-based project partnered the complementary strengths of a public library (the Library) located in the same city as an academic research centre (the University): The University’s research infrastructure and the Library’s community and information delivery expertise combined to impact awareness of clinical research in the local population. Methods: This project utilised a multi-method approach to assess interest in health research, to deliver relevant information on community-relevant health topics and to increase awareness of health research in general. It was designed with the community to identify a sustainable, affordable model to deliver health information and illuminate the role of research in the process. Results: The project demonstrated a successful community-based model, utilising Health Research Forums and online resources to increase the connection between health research information and health research participation opportunities. Conclusion: By linking researchers with community members, providing related resources to augment linkage between health information and research, the project demonstrated an increased awareness regarding opportunities that exist for community participation in research through a sustainable model.

Olivopontocerebellar Atrophy Studied with Positron Emission Tomography

Publisher Summary This chapter discusses the olivopontocerebellar atrophy (OPCA) using positron emission tomography (PET). OPCA is a neurological disorder usually beginning in the third to fifth decade of life and characterized by progressive degenerative changes in the inferior olive, pons, and cerebellum. The adult onset of a cerebellar disorder can result from many conditions, including degenerative disease, malformations, vascular disease, infections, toxic or metabolic disorders, neoplasms, and demyelinative disease. The diagnosis of OPCA or one of the other adult-onset degenerative diseases is usually suggested by the presence of atrophy of the cerebellum and brain stem on computerized axial tomography scan. In comparison with the scans of the normal controls, the scans of patients with OPCA revealed obviously decreased glucose metabolic activity in the cerebellar hemispheres, vermis, and brain stem and a normal pattern of activity in other portions of the nervous system. The PET studies of patients revealed decreased glucose metabolic activity in the cerebellar hemispheres, vermis, and brain stem in comparison with age matched and sex-matched control subjects.