Genetics in Medicine (GENET MED )

Publisher: American College of Medical Genetics


As a respected part of the genetics community, Genetics in Medicine is a must read for all those applying new genetic findings to their practice. Genetics in Medicine is devoted to the broad clinical application of genetics, and outstanding editorial content and uniqueness make it a necessary acquisition for all clinicians and institutional libraries. Topics covered in the journal include clinical genetics, biochemical genetics, cytogenetics, molecular genetics, common disease genetics, genetic counseling and legal updates and genetics legacies.

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    Genetics in Medicine website
  • Other titles
    Genetics in medicine, Genetics medicine
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    Periodical, Internet resource
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    Journal / Magazine / Newspaper, Internet Resource

Publications in this journal

  • Genetics in Medicine 03/2014; 16(3):231-237.
  • Genetics in Medicine 01/2012; 14(1).
  • Genetics in Medicine 02/2010; 12(3):182-183.
  • Genetics in Medicine 01/2008;
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    ABSTRACT: Neurofibromatosis type 1 is diagnosed clinically based on the presence of two of seven criteria developed by a panel of experts in 1987. The sixth criterion focuses on skeletal findings and is as follows: "A distinctive osseous lesion such as sphenoid dysplasia or thinning of long bone cortex, with or without pseudarthrosis." The wording for this criterion is misleading. In particular, "thinning of long bone cortex" is not the characteristic radiographic presentation, and no mention of long bone bowing is included. The distinctive clinical feature of long bone dysplasia in neurofibromatosis type 1 is anterolateral bowing of the lower leg (portion of the body delimited by the knee and ankle). The usual radiographic findings of long bone dysplasia in neurofibromatosis type 1 at first presentation, prior to fracture, are anterolateral bowing with medullary canal narrowing and cortical thickening at the apex of the bowing. We suggest that anterolateral bowing of the lower leg, with or without fracture or pseudarthrosis, is a more appropriate description of the primary finding that a clinician will use to fulfill the sixth diagnostic criterion for neurofibromatosis type 1. Clarification of this diagnostic criterion is important for the clinician and for research protocols. Appropriate interpretation will improve understanding of the natural history and pathophysiology of neurofibromatosis type 1.
    Genetics in Medicine 08/2007; 9(7):409-12.
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    ABSTRACT: The need for education programs to facilitate the integration of genetics into health practice is well recognized. The inclusion of education as an aspect of genetics policy and the establishment of national bodies for genetics education extend program development beyond ad hoc programs conducted by individual practitioners. A framework for the development of an effective program is required that has a strong theoretic basis and incorporates rigorous evaluation. Relevant aspects of three theories that can inform genetics education programs are described: program logic modeling, adult learning theory, and evaluation theory. These are drawn on to develop a framework for the development and implementation of genetics education programs for health professionals and concurrent evaluation. The utility of the framework is demonstrated in the development and implementation of "The Genetics File" program, a multifaceted program for general practitioners, comprising an enduring print resource and interactive workshop. The evaluation strategy developed is also documented. Program logic, adult learning theory, and evaluation theory together provide a useful and relevant theoretic framework for the development of genetics education programs for health professionals.
    Genetics in Medicine 08/2007; 9(7):451-7.
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    ABSTRACT: The study purpose was to examine the consequences of using dried blood spots rather than fresh sera in first-trimester Down syndrome screening. We collected and compared human chorionic gonadotropin and pregnancy-associated plasma protein-A results from clients providing dried blood spots (Cohort 1) and from other clients providing fresh sera (Cohort 2). Inclusion and exclusion criteria aimed at ensuring the two cohorts were similar. The average concentrations of human chorionic gonadotropin and pregnancy-associated plasma protein-A are significantly different for the two cohorts. When the results are converted to multiples of the median and weight-adjusted, the variances for human chorionic gonadotropin and pregnancy-associated plasma protein-A in Cohort 1 are greater by 25% and 14%, respectively. Modeling the impact of this increased variance shows that Down syndrome detection is expected to be lower in Cohort 1 (83% vs. 85% at a 5% false-positive rate) or the false-positive rate is expected to be higher (3.9% vs. 3.0% at an 80% detection rate). This study of two closely matched cohorts provides indirect evidence that dried blood spots will result in slightly lower Down syndrome screening performance. Studies should be undertaken to confirm and further quantify differences in assigned risks by a direct comparison using matched serum and dried blood spots collected from the same women.
    Genetics in Medicine 08/2007; 9(7):458-63.
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    ABSTRACT: To assess factors affecting individuals' decision to accept or decline cystic fibrosis carrier testing/screening, as reported in studies published until December 2006. The Health Belief Model guided classification of each factor, and the studies' methodological quality was assessed. A three-stage search and retrieval process, alongside application of specific inclusion/exclusion criteria, yielded 40 studies (in 35 articles). For each reviewed study, authors abstracted and organized selected data into a matrix and assigned a methodological quality score. The four most frequently identified acceptance factors included three Health Belief Model factors and one non-Health Belief Model factor: perceived benefits of undergoing cystic fibrosis carrier testing/screening, weaker perception of barriers to cystic fibrosis carrier testing/screening, fewer/no children or desiring children, and research-related factors (non-Health Belief Model factor construct). All four most frequent factors associated with declining testing were Health Belief Model factor constructs: perceived barriers to obtaining cystic fibrosis carrier testing/screening, parity, lack of knowledge, and weaker perception of benefits of undergoing cystic fibrosis carrier testing/screening. The average methodological quality of the studies was 10.2 (SD=3.2; range, 5-18 points). The methodological and theoretical quality of this body of literature could be substantially improved if researchers employed theory-based approaches, tested (and reported) the validity/reliability of their own data, and employed multivariate statistical analyses and/or better controlled research designs. Improving the quality of future studies may allow better inferences regarding the relative contribution of each factor identified in this review to individuals' decision-making process.
    Genetics in Medicine 08/2007; 9(7):442-50.
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    ABSTRACT: Hearing loss is an etiologically diverse condition with many disease-related complications and major clinical, social, and quality of life implications. As the rate of acquired hearing loss secondary to environmental causes decreases and improvements in the diagnosis of abnormalities occur, the significance of genetic factors that lead to deafness increases. Advancements in molecular biology have led to improved detection and earlier intervention in patients with hearing loss. Subsequently, earlier implementation of educational services and cochlear implant technology in patients with profound hearing loss now results in superior communication skills and enhanced language development. The aim of this review is to provide a comprehensive framework underlying the causes of hearing impairment and to detail the clinical management for patients with hereditary hearing loss.
    Genetics in Medicine 08/2007; 9(7):393-408.