Abstract
In this age of personalized medicine, genetic and genomic testing is expected to become instrumental in health care delivery, but little is known about its actual implementation in clinical practice. Methods. We surveyed Duke faculty and healthcare providers to examine the extent of genetic and genomic testing adoption. We assessed providers’ use of genetic and genomic testing options and indications in clinical practice, providers’ awareness of pharmacogenetic applications, and providers’ opinions on returning research-generated genetic test results to participants. Most clinician respondents currently use family history routinely in their clinical practice, but only 18 percent of clinicians use pharmacogenetics. Only two respondents correctly identified the number of drug package inserts with pharmacogenetic indications. We also found strong support for the return of genetic research results to participants. Our results demonstrate that while Duke healthcare providers are enthusiastic about genomic technologies, use of genomic tools outside of research has been limited. Respondents favor return of research-based genetic results to participants, but clinicians lack knowledge about pharmacogenetic applications. We identified challenges faced by this institution when implementing genetic and genomic testing into patient care that should inform a policy and education agenda to improve provider support and clinician-researcher partnerships.
Highlights
Recent scientific discoveries and technological advances in precision and personalized medicine (PPM) promise improved health outcomes based on the predictive value of an individual’s unique clinical, social, behavioral, genetic, genomic, and environmental information [1,2,3,4]
While the research advances in PPM are evident, the integration of genomics-based PPM tools into clinical practice remains slow [11] and few studies have documented the uptake of personalized medicine tools in clinical practice [12,13]
Decline to respond selections were not included in the figure, but are included in the sample size given for each question. In this modest survey of faculty providers and researchers at Duke University Health System (DUHS), we found that few clinicians routinely implement genomic and genetic testing in their clinical practice but do use other PPM approaches like collecting family history and referral to genetic counseling
Summary
Recent scientific discoveries and technological advances in precision and personalized medicine (PPM) promise improved health outcomes based on the predictive value of an individual’s unique clinical, social, behavioral, genetic, genomic, and environmental information [1,2,3,4]. Genomic and genetic tools have begun and will continue to influence clinical practice by allowing physicians to assess genetic load and predict individual disease development [5,6,7]. Inconsistent interpretation of pharmacogenetic test results, scarce clinical guidelines for prescribing on the basis of test results, and limited clinical decision support systems for most drugs with genetic testing indications have contributed to the ongoing challenge of effectively utilizing pharmacogenetic tools in routine clinical care [14,15]. Financial issues further compound the practical challenges; economic models to date have not sufficiently established the cost-effectiveness of genetic testing to justify reimbursement [16]
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