A step forward: Consent for Clinical DNA Sequencing at the Iowa Institute of Human Genetics

During a recent podcast on Mendelspod.com, Colleen Campbell at the Iowa Institute of Human Genetics (IIHG) described the process of introducing pharmacogenomic testing and clinical exome sequencing at the University of Iowa. The project started small, but included pharmacogenomic testing for clopidogrel, as well as whole exome sequencing (WES). At IIHG, WES is intended for diagnostic odyssey patients; patients with a large list of differential diagnoses (where WES is more economical than multiple, individual genetic tests); and patients with atypical presentations of disease. (Today, WES provides a diagnostic answer about 25% of the time.)

As part of the process, patients complete this plain language informed consent form that explains the benefits and risks associated with genetic testing. The form lets patients decide how to receive information about incidental and secondary findings. More importantly, the consent form lets patients easily contribute their health information for future research. Unless patients opt-out, DNA samples and genetic data can be:

  • Compared with genetic information from others to improve future tests
  • Stored for future studies
  • Placed in a national repository (without identifying information)
  • Used to develop future products and services
  • Published in research studies (results, without identifying information)
  • Made into cell lines (from the DNA blood sample)

The consent form also includes lets the patient opt-in so that IIHG can use patients’ genetic information in future research studies (beyond the original purpose for the test).

IIHG has done an exemplary job involving an entire community to integrate genomics into clinical practice. By educating hospital staff, patients and the community, genomic medicine will slowly begin to take root.

Note: I would not be surprised to see IIHG presenting their results at conferences over the next year, including AHIMA, AMIA, ANIAASHG and HIMSS.

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