Strengthening the reporting of genetic risk prediction studies: the GRIPS statement

BMJ 2011; 342 doi: 10.1136/bmj.d631 (Published 16 March 2011)
Cite this as: BMJ 2011;342:d631
  1. A Cecile J W Janssens, associate professor of translational epidemiology1,
  2. John P A Ioannidis, C F Renhborg professor in disease prevention23456,
  3. Cornelia M van Duijn, professor of genetic epidemiology1,
  4. Julian Little, Canada research chair in human genome epidemiology 7,
  5. Muin J Khoury, director8
  6. for the GRIPS Group
    1. Correspondence to: ACJW Janssens a.janssens{at}erasmusmc.nl

    The number of known genetic markers of risk is increasing but the interpretation of their clinical effect is hampered by poor reporting of prediction studies. These guidelines from the GRIPS group aim to ensure transparent reporting of prediction studies

    The recent successes of genome-wide association studies and the promises of whole genome sequencing fuel interest in the translation of this new wave of basic genetic knowledge to healthcare practice. Knowledge about genetic risk factors may be used to target diagnostic, preventive, and therapeutic interventions for complex disorders based on a person’s genetic risk or to complement existing risk models based on classic non-genetic factors such as the Framingham risk score for cardiovascular disease. Implementation of genetic risk prediction in healthcare requires a series of studies that encompass all phases of translational research,1 2 starting with a comprehensive evaluation of genetic risk prediction.

    With increasing numbers of discovered genetic markers that can be used in future genetic risk prediction studies, it is crucial to enhance the quality of the reporting of these studies, since valid interpretation could be compromised by the lack of reporting of key information. Information that is often missing includes details in the description of how the study was designed and conducted (eg, how genetic variants were selected and coded, how risk models or genetic risk scores were constructed, and how risk categories were chosen), or how the results should be interpreted. An appropriate assessment of the study’s strengths and weaknesses is not possible without this information. There is ample evidence that prediction research often suffers from poor design and bias, and these may also have an impact on the results of the studies and on models of disease outcomes based on these studies.3 4 5 Although most prognostic studies published to date claim significant results, …

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