News Briefs| Volume 17, ISSUE 5, P321-322, May 2015

News Briefs

        New genetic syndrome sheds light on human development

        The recent discovery of a first-of-its-kind genetic syndrome provides new insight into the most fundamental processes of human development. CHOPS syndrome, so-named for the constellation of symptoms seen in the three children known to be affected, is the first example of a human developmental disorder caused by mutations in a protein complex that controls gene expression in early embryonic development. A team of researchers from the Individualized Medical Genetics Center at the Children’s Hospital of Philadelphia and the University of Tokyo described the new syndrome in a study published in March 2015 in Nature Genetics. The parents of the affected children, all of whom had developmental defects similar to those seen in Cornelia de Lange syndrome, sought the assistance of study leader Ian Krantz, an expert on that disorder. Krantz’s research team sequenced the coding regions of the genome and identified the candidate gene AFF4, which was mutated in all the affected children but none of their parents. The AFF4 gene is part of the super elongation complex that helps control the process of transcribing DNA into RNA in a developing embryo. The three unrelated children all had distinctive facial features, obesity, heart and lung defects, short stature, and abnormal bone and brain development. The nature of the disorder allowed doctors to reassure parents that any subsequent children are unlikely to have the disorder; however, no specific treatments are currently available for the affected patients. —Karyn Hede, News Editor
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        Consumer genetic tests for cancer oversell benefits, underplay limits

        Companies that market personalized genetic testing for cancer risk often exaggerate their products’ benefits, offering tests that have not been proven clinically useful, according to a report by a research team at Dana-Farber Cancer Institute. The investigators analyzed personalized “precision cancer medicine” products and services marketed by private companies, academic medical centers, physicians, research institutes, and other organizations. Some offered products or services marketed to consumers as a way to “tailor, personalize, or individualize care based on genomic or tumor-derived data.” Others offered to analyze the patient’s personal genome using a gene panel purported to show individuals whether a healthy person has a genetic predisposition that could raise the risk of developing cancer. More than half offered care based on tumor testing, and 20% marketed tests based on identification of cancer risk. In addition, 44% of sites offered some form of personalized cancer care. The researchers analyzed claims found on the companies’ websites and reported their results in the Journal of the National Cancer Institute in March 2015. Nearly all the websites included information about benefits of the services, but only 27% (15 of 55) included information on limits to their services. While the researchers did not assess the validity of any claims, they pointed out that genetic testing claims have often been shown to be without scientific merit. They suggest that in the absence of regulation of Internet marketing, it is essential for clinicians to be knowledgeable about these services and to be prepared to educate patients on how to evaluate these products. —Karyn Hede, News Editor
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        Genetics in Medicine | Mission Statement

        Genetics in Medicine is a monthly journal committed to the timely publication of:
        • Original reports which enhance the knowledge and practice of medical genetics
        • Strategies and innovative approaches to the education of medical providers at all levels in the realm of genetics
        As the official journal of the American College of Medical Genetics and Genomics (ACMG), the journal will:
        • Provide a forum for discussion, debate and innovation concerning the changing and expanding role of medical genetics within the broader context of medicine
        • Fulfill our responsibility to the College membership through the publication of guidelines, policy statements and other information that enhances the practice and understanding of medical genetics
        Finally, as genetics becomes increasingly important in the wider medical arena, we will be an accessible and authoritative resource for the dissemination of medical genetic knowledge to providers outside of the genetics community through appropriate reviews, discussions, recommendations and guidelines.

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