Meron Mezgebe, Mercer University College of Pharmacy
Clinical exome and genome sequencing has been shown to provide advantages in molecular diagnosing to patients with rare genetic events and new mutations. Results presented in whole genome sequencing (WGS) provide more complex results than simpler gene- or gene panel-based testing.  With the limited access to genetic professionals, non-geneticist physicians and primary care physicians (PCPs) can present genomic information to patients. A study found that physicians appear underprepared, and perceived that they lack sufficient knowledge and confidence to incorporate genomic testing and pharmacogenetics testing into practice.  Furthermore, a qualitative analysis found PCPs to be concerned about their general genomic knowledge. 
Evaluation of highly heritable conditions , prenatal screening , and cancer treatment  through genome sequencing has been shown to be beneficial. However, the risk of anxiety and unnecessary medical costs might outweigh the benefits of sequencing for healthy individuals. 
|The Impact of Whole-Genome Sequencing on the Primary Care and Outcomes of Healthy Adult Patients |
|Design||Pilot, randomized trial; N= 100|
|Objective||To describe the effect on clinical care and outcomes of adding whole-genome sequencing (WGS) to standardized family history (FH) assessment in primary care|
|Study Groups||FH alone (FH group; n= 50); FH in combination with an interpreted WGS report (FH + WGS group; n= 50)|
|Methods||Individual email outreach and presentations were used to recruit a convenience sample of nine primary care physicians (PCPs) from one academic network of outpatient practices. Approximately 10 patients were recruited per PCP. Before enrolling patients, the PCP participants had a brief educational course on the genome report.
Patients 40-65 years old, with no history of cardiovascular disease or diabetes mellitus and deemed generally health by their PCP were eligible for inclusion.
At the baseline visit, all patients reported FH using a modified version of the U.S. Surgeon Generals My Family Health Portrait Web Tool and had a sham blood draw (FH group) or a blood draw for WGS (FH + WGS group). The PCP received the pedigree resulting from the FH web tool for all patients, and the interpreted WGS report for the FH + WGS group.
|Primary Outcome Measure||Effect in health care use, anxiety, depression, perceived health and health behaviors when WGS is added to FH|
|Study Author Conclusions||WGS may prompt additional clinical actions without evidence of short-term distress or clinical utility. Furthermore, some PCPs can manage the results appropriately.|
This study used a standardized design, validated instruments, and electronic health record data to assess medical care. The limitations include a small sample size with limited ancestral, geographic and socioeconomic diversity. This research supports the inclusion of WGS in primary care visits for healthy individuals by PCPs.
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