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      Perceived Impact of Diabetes Genetic Risk Testing Among Patients at High Phenotypic Risk for Type 2 Diabetes

      research-article
      , PHD 1 , , PHD, MPH 2 , 3 , , MS, RD 3 , 4 , , BA 3 , 5 , , MD, MPH 3 , 5
      Diabetes Care
      American Diabetes Association

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          Abstract

          OBJECTIVE

          Rapid advances in diabetes genetic epidemiology may lead to a new era of “personalized medicine” based on individual genetic risk assessment. There is minimal experience to guide how best to clinically implement such testing so that results (e.g., “higher” or “lower” relative genetic risk) improve rather than reduce patient motivation for behavior change.

          RESEARCH DESIGN AND METHODS

          Between November 2009 and May 2010, we conducted in-depth interviews with 22 overweight participants at high phenotypic risk for type 2 diabetes to explore perceptions of diabetes genetic risk testing compared with currently available prediction using nongenetic risk factors (e.g., family history, abnormal fasting glucose, obesity). We used hypothetical scenarios to specifically investigate the impact of both “higher” and “lower” relative genetic risk results on participants’ views about diabetes prevention.

          RESULTS

          Many participants conferred a unique value on personal genetic risk information relative to nongenetic risk based on the perceived scientific certainty and durability of genetic results. In contrast, other participants considered their genetic risk within the overall context of their other measured risk factors. Reactions to diabetes genetic test results differed by current motivation levels. Whereas most subjects reported that “higher” risk results would motivate behavior change, subjects with lower current motivation often reported that “lower” genetic risk results would further reduce their motivation to engage in diabetes prevention behaviors.

          CONCLUSIONS

          To be effective, future clinical implementation of type 2 diabetes genetic risk testing should be individualized based on each patient’s risk perception and current level of motivation to prevent diabetes.

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          Most cited references14

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          The path to personalized medicine.

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            Diversity of human copy number variation and multicopy genes.

            Copy number variants affect both disease and normal phenotypic variation, but those lying within heavily duplicated, highly identical sequence have been difficult to assay. By analyzing short-read mapping depth for 159 human genomes, we demonstrated accurate estimation of absolute copy number for duplications as small as 1.9 kilobase pairs, ranging from 0 to 48 copies. We identified 4.1 million "singly unique nucleotide" positions informative in distinguishing specific copies and used them to genotype the copy and content of specific paralogs within highly duplicated gene families. These data identify human-specific expansions in genes associated with brain development, reveal extensive population genetic diversity, and detect signatures consistent with gene conversion in the human species. Our approach makes ~1000 genes accessible to genetic studies of disease association.
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              Concordance for type 1 (insulin-dependent) and type 2 (non-insulin-dependent) diabetes mellitus in a population-based cohort of twins in Finland.

              We studied the cumulative incidence, concordance rate and heritability for diabetes mellitus in a nationwide cohort of 13,888 Finnish twin pairs of the same sex. The twins were born before 1958 and both co-twins were alive in 1967. Data on diabetes were derived through computerized record linkage from death certificates, the National Hospital Discharge Register and the National Drug Register. Records were reviewed in order to assign a diagnostic category to the 738 diabetic patients identified. Of these patients 109 had Type 1 (insulin-dependent) diabetes, 505 Type 2 (non-insulin-dependent) diabetes, 46 gestational diabetes, 24 secondary diabetes, 38 impaired glucose tolerance and 16 remained unclassified. The cumulative incidence of diabetes was 1.4% in men and 1.3% in women aged 28-59 years and 9.3% and 7.0% in men and women aged 60 years and over, respectively. The cumulative incidence did not differ between monozygotic and dizygotic twins. The concordance rate for Type 1 diabetes was higher among monozygotic (23% probandwise and 13% pairwise) than dizygotic twins (5% probandwise and 3% pairwise). The probandwise and pairwise concordance rates for Type 2 diabetes were 34% and 20% among monozygotic twins and 16% and 9% in dizygotic twins, respectively. Heritability for Type 1 diabetes was greater than that for Type 2 where both genetic and environmental effects seemed to play a significant role.
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                Author and article information

                Journal
                Diabetes Care
                diacare
                dcare
                Diabetes Care
                Diabetes Care
                American Diabetes Association
                0149-5992
                1935-5548
                March 2011
                17 February 2011
                : 34
                : 3
                : 568-573
                Affiliations
                [1] 1Wells College, Aurora, New York
                [2] 2Mongan Institute for Health Policy, Boston, Massachusetts
                [3] 3Harvard Medical School, Boston, Massachusetts
                [4] 4Massachusetts General Hospital Diabetes Center, Boston, Massachusetts
                [5] 5Massachusetts General Hospital General Medicine Unit, Boston, Massachusetts
                Author notes
                Corresponding author: Richard W. Grant, rgrant@ 123456partners.org .
                Article
                1960
                10.2337/dc10-1960
                3041182
                21285385
                0fe98288-9612-4922-8d01-a82a5f9e6611
                © 2011 by the American Diabetes Association.

                Readers may use this article as long as the work is properly cited, the use is educational and not for profit, and the work is not altered. See http://creativecommons.org/licenses/by-nc-nd/3.0/ for details.

                History
                : 20 October 2010
                : 8 December 2010
                Categories
                Original Research
                Clinical Care/Education/Nutrition/Psychosocial Research

                Endocrinology & Diabetes
                Endocrinology & Diabetes

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