AUG 21, 2014 12:45 PM PDT

Predictive and not: understanding the mixed messages of our DNA

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  • Research Professor of Epidemiology, Emory University

      Cecile Janssens is professor of translational epidemiology in the department of Epidemiology of the Rollins School of Public Health, Emory University, Atlanta, USA. Her research concerns the translation of genomics research to applications in clinical and public health practice. Her work focuses on the prediction of multifactorial diseases (e.g. diabetes, cardiovascular disease, asthma) using genetic risk models and on the assessment of the predictive ability and utility of genetic testing. She recently co-chaired a workshop that developed reporting guidelines for genetic risk prediction studies, the GRIPS Statement, and chaired a workshop for the European Commission that proposed quality criteria for health checks. Cecile Janssens has published over 150 papers in international scientific journals. She is a lecturer in graduate and post-graduate courses in local, national and international programs, and coordinates a summer course on Translational Research in Genomic Medicine at Emory. Before moving to the USA, she was chair of the Dutch Association of Community Genetics and Public Health Genomics and board member of the Netherlands Association for Human Genetics. She still is an active member of the Health Council of the Netherlands.


    When whole genome and whole exome sequencing are introduced into health care, and offered directly to consumers in commercial settings, the landscape of genetic testing will drastically change. The information that is obtained from sequencing is much more complex than the results of traditional genetic testing: where traditionally a test is undertaken to inform a single health outcome, genome sequencing can inform the diagnosis of, or susceptibility to, numerous diseases.

    Genome sequencing is envisioned to ultimately replace conventional forms of genetic testing. This prospect has already led to an intense debate on what to do with the remaining unreported data, how to deal with issues around privacy, discrimination, insurability, and patient and consumer protection.

    The opportunities for the return of incidental findings, discrimination and stigmatization depend on the predictive ability of a test. Therefore, the discussion of these concerns in the context of sequencing should start from a critical assessment of the predictive ability of DNA, which is paramount because the genome does not have an overall predictive ability as such. Rather, genome sequencing should be seen as one assay that consists of numerous tests. The predictive ability depends on what is predicted, in whom and how (using which specific information from the DNA).

    For a constructive debate on ethical and societal issues, health care professionals, policy makers, legislators and the public need to be aware of the possibilities and limitations of sequencing. A good understanding of what can (and cannot) be predicted from our DNA is necessary to ensure a responsible introduction of genome sequencing in health care and an effective regulation of commercial DNA testing. This presentation provides a concise explanation on how DNA can be both predictive for some diseases and not predictive for others.

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