Genetics in Medicine

doi: 10.1097/01.gim.0000398387.64318.d5pmid: N/A

James, Paula D; Goodeve, Anne C

doi: 10.1097/GIM.0b013e3182035931pmid: 21289515

Abstract: von Willebrand disease is a common inherited bleeding disorder characterized by excessive mucocutaneous bleeding. Characteristic bleeding symptoms include epistaxis, easy bruising, oral cavity bleeding, menorrhagia, bleeding after dental extraction, surgery, and/or childbirth, and in severe cases, bleeding into joints and soft tissues. There are three subtypes: types 1 and 3 represent quantitative variants and type 2 is a group of four qualitative variants: (1) type 2A—characterized by defective von Willebrand factor-dependent platelet adhesion because of decreased high-molecular-weight von Willebrand factor multimers, (2) type 2B—caused by pathologically increased von Willebrand factor-platelet interactions, (3) type 2M—caused by decreased von Willebrand factor-platelet interactions not based on the loss of high-molecular-weight multimers, and (4) type 2N—characterized by reduced binding of von Willebrand factor to factor VIII. The diagnosis of von Willebrand disease requires specialized assays of von Willebrand factor and/or molecular genetic testing of von Willebrand factor. Severe bleeding episodes can be prevented or controlled with intravenous infusions of virally inactivated plasma-derived clotting factor concentrates containing both von Willebrand factor and factor VIII. Depending on the von Willebrand disease type, mild bleeding episodes usually respond to intravenous or subcutaneous treatment with desmopressin, a vasopressin analog. Other treatments that can reduce symptoms include fibrinolytic inhibitors and hormones for menorrhagia.

Walsh, Kyle M; Bracken, Michael B

doi: 10.1097/GIM.0b013e3182076c0cpmid: 21289514

Purpose: Autism is one of the most heritable complex disorders, but the genetic etiology of autism spectrum disorders is unexplained in ∼90% of cases. Highly penetrant microdeletions and microduplications of 16p11.2 contribute to the pathogenesis of autism spectrum disorder, but the extent to which these variants account for the total burden of idiopathic autism spectrum disorders has not been systematically investigated.

Taylor, David P; Stoddard, Gregory J; Burt, Randall W; Williams, Marc S; Mitchell, Joyce A; Haug, Peter J; Cannon-Albright, Lisa A

doi: 10.1097/GIM.0b013e3182064384pmid: 21270638

Purpose: Using a large, retrospective cohort from the Utah Population Database, we assess how well family history predicts who will acquire colorectal cancer during a 20-year period.

Loesch, Danuta Z; Godler, David E; Evans, Andrew; Bui, Quang M; Gehling, Freya; Kotschet, Katya E; Trost, Nicholas; Storey, Elsdon; Stimpson, Paige; Kinsella, Glynda; Francis, David; Thorburn, David R; Venn, Alison; Slater, Howard R; Horne, Malcolm

Ormond, Kelly E; Hudgins, Louanne; Ladd, Jennifer M; Magnus, David M; Greely, Henry T; Cho, Mildred K

doi: 10.1097/GIM.0b013e31820562f6pmid: 21270640

Purpose: Medical schools are being approached by direct-to-consumer genotyping companies about genotyping faculty or trainees as a method to “teach” them about the potential implications of genotyping. In thinking about the future incorporation of genotyping into a graduate level genetics course, the purpose of this study was 2-fold: first, to assess knowledge, attitudes, and beliefs of students toward personal genomics as it related to themselves as both as customers and future physicians and as it related to consumers at large, and second, to determine the impact of the course (as taught without genotyping) on knowledge, attitudes, and beliefs.

Christensen, Kurt D; Roberts, J Scott; Uhlmann, Wendy R; Green, Robert C

doi: 10.1097/GIM.0b013e3182076bf1pmid: 21270636

Purpose: Perceptions about the pros and cons of genetic susceptibility testing are among the best predictors of test utilization. How actual testing changes such perceptions has yet to be examined.

Hietikko, Elina; Kotimäki, Jouko; Kentala, Erna; Klockars, Tuomas; Sorri, Martti; Männikkö, Minna

doi: 10.1097/GIM.0b013e3182091a41pmid: 21346584

Purpose: To study the inheritance and characteristics of familial Meniere disease in Finland and genetic linkage to the previously proposed locus on chromosome 12p12.3.

Butrick, Morgan; Roter, Debra; Kaphingst, Kimberly; Erby, Lori H; Haywood, Carlton; Beach, Mary Catherine; Levy, Howard P

doi: 10.1097/GIM.0b013e3182056133pmid: 21270639

Purpose: Translational investigation on personalized medicine is in its infancy. Exploratory studies reveal attitudinal barriers to “race-based medicine” and cautious optimism regarding genetically personalized medicine. This study describes patient responses to hypothetical conventional, race-based, or genetically personalized medicine prescriptions.

Farrell, Ruth M; Dolgin, Natasha; Flocke, Susan A; Winbush, Victoria; Mercer, Mary Beth; Simon, Christian

doi: 10.1097/GIM.0b013e3182076633pmid: 21293275

Purpose: The clinical introduction of first trimester aneuploidy screening uniquely challenges the informed consent process for both patients and providers. This study investigated key aspects of the decision-making process for this new form of prenatal genetic screening.