The initial sequencing of the human genome, carried out by an international
group of experts, took 13 years and $2.7 billion to complete. In the decade
since that achievement, sequencing technology has evolved at such a rapid pace
that today a consumer can have his or her entire genome sequenced by a single
company in a matter of days for less than $10,000, though the addition of
interpretation may extend this timeframe.
Given the rapid technological
advances, the potential effect on the lives of patients, and the increasing use
of genomic information in clinical care, it is important to address how genomics
data can be integrated into the clinical setting. Genetic tests are already used
to assess the risk of breast and ovarian cancers, to diagnose recessive diseases
such as cystic fibrosis, to determine drug dosages based on individual patient
metabolism, and to identify therapeutic options for treating lung and breast
tumors, melanoma, and leukemia.
With these issues in mind and considering the potential impact that genomics
information can have on the prevention, diagnosis, and treatment of disease, the
Roundtable on Translating Genomic-Based Research for Health hosted a workshop on
July 19, 2011, to highlight and identify the challenges and opportunities in
integrating large-scale genomic information into clinical practice.
Integrating Large-Scale Genomic Information into Clinical Practice
summarizes the speaker presentations and the discussions that followed them.
This report focuses on several key topics, including the analysis,
interpretation, and delivery of genomic information plus workforce, ethical, and
legal issues.
Authors:Steve Olson, Sarah H. Beachy, Claire F. Giammaria,
and Adam C. Berger, Rapporteurs; Roundtable on Translating Genomic-Based
Research for Health; Institute of Medicine
