Showing papers by "Arno G. Motulsky published in 2000"
TL;DR: Baseline triglyceride level predicted subsequent CVD mortality among relatives in FHTG families, adding to the growing evidence for the importance of hypertriglyceridemia as a risk factor for CVD.
Abstract: Background—Familial combined hyperlipidemia (FCHL) and familial hypertriglyceridemia (FHTG) are 2 of the most common familial forms of hyperlipidemia. There is a paucity of prospective data concerning the risk of cardiovascular disease (CVD) in such families. The purposes of this study were to estimate 20-year total and CVD mortality risk among relatives in these families and to evaluate plasma triglyceride as a predictor of death. Methods and Results—The study was based on lipid and medical history data from 101 families ascertained in 2 studies conducted in the early 1970s. Vital status and cause of death was determined during 1993 to 1997 for 685 family members, including first-degree relatives of the probands and spouse control subjects. Compared with spouse control subjects, 20-year CVD mortality risk was increased among siblings and offspring in FCHL (relative risk 1.7, P=0.02) after adjustment for baseline covariates. In FHTG families, the relative risk was also 1.7 but was not statistically signif...
252 citations
University of Colorado Boulder1, University of California, San Diego2, California Institute of Technology3, Salk Institute for Biological Studies4, Harvard University5, Emory University6, University of California, Riverside7, Wayne State University8, University of Michigan9, Yale University10, University of Washington11, Albert Einstein College of Medicine12, Baylor College of Medicine13, Stanford University14, Zoological Society of San Diego15, Anschutz Medical Campus16, State University of New York System17, University of New Mexico18
TL;DR: The initial goals of the Human Genome Project, to sequence the human genome and identify its constituent genes, are on the verge of being achieved, but the scientific community recognizes that sequencing must be followed by understanding the manifold functions of human genes throughout.
Abstract: The initial goals of the Human Genome Project (HGP), to sequence the human genome and identify its constituent genes, are on the verge of being achieved. However, the scientific community recognizes that sequencing must be followed by understanding the manifold functions of human genes throughout
41 citations
TL;DR: A consensus conference in 1997 recommended that such screening be deferred, owing to uncertainty regarding the extent of clinical disease that may develop in individuals detected by such programs as mentioned in this paper, and there was also concern that DNA screening results might be used for discrimination in insurance and occupational settings.
Abstract: Hemochromatosis is a common autosomal recessive condition found in the homozygous state in 1/200-1/400 people of northern-, central-, and western-European origin. It causes increased iron storage, which may lead to liver cirrhosis, liver cancer, heart disease, arthritis, and diabetes in many but not all affected adults, with a higher frequency in males. The condition is easily treated by repeated venesections without side effects but is frequently overlooked. Population screening of adults using iron indices alone or combined with DNA testing has therefore been recommended, but a consensus conference in 1997 recommended that such screening be deferred, owing to uncertainty regarding the extent of clinical disease that may develop in individuals detected by such programs. There was also concern that DNA screening results might be used for discrimination in insurance and occupational settings. Screening family members of patients with evidence of definite iron loading, however, is accepted by all observers. Because serious complications may be overlooked, a more aggressive stance toward case detection in the adult population has been advocated by some observers, realizing that unnecessary treatment might occur. Because additional information regarding the spectrum of clinical disease in homozygotes in now accumulating, a consensus conference in the near future is suggested to consider appropriate policies.
28 citations
TL;DR: The future organization of the authors' complex health care system and its regulation will be an important factor in personnel requirements in medical genetics, and a likely outcome is increasing utilization of genetic counselors, rather than of medical geneticists in HMO settings, which is already happening in cancer genetics.
Abstract: The future organization of our complex health care system and its regulation will be an important factor in personnel requirements in medical genetics. There are many problems. Over 40 million people are uninsured. How can we provide appropriate genetic services to this underserved population, and how should that be done? Health maintenance organizations (HMOs) are here to stay for some time. To reduce costs, these organizations utilize cost-effectiveness analysis to define the needs for genetic services. A likely outcome is increasing utilization of genetic counselors, rather than of medical geneticists in HMO settings, which is already happening in cancer genetics. There is likely to be more patient education in matters of genetics with attention to prevention—a welcome development. The specific organization of various genetic services and the role of genetics in medical care is difficult to predict at this time and will depend on scientific developments and how health care in the U.S.A. will be administered in the future. There is no question, however, that our field of science and practice will play an important role in the medicine of the future.
4 citations
2 citations