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The Impact of Whole-Genome Sequencing on the Primary Care and Outcomes of Healthy Adult Patients: A Pilot Randomized Trial.

Publication ,  Journal Article
Vassy, JL; Christensen, KD; Schonman, EF; Blout, CL; Robinson, JO; Krier, JB; Diamond, PM; Lebo, M; Machini, K; Azzariti, DR; Dukhovny, D ...
Published in: Annals of internal medicine
August 2017

Whole-genome sequencing (WGS) in asymptomatic adults might prevent disease but increase health care use without clinical value.To describe the effect on clinical care and outcomes of adding WGS to standardized family history assessment in primary care.Pilot randomized trial. (ClinicalTrials.gov: NCT01736566).Academic primary care practices.9 primary care physicians (PCPs) and 100 generally healthy patients recruited at ages 40 to 65 years.Patients were randomly assigned to receive a family history report alone (FH group) or in combination with an interpreted WGS report (FH + WGS group), which included monogenic disease risk (MDR) results (associated with Mendelian disorders), carrier variants, pharmacogenomic associations, and polygenic risk estimates for cardiometabolic traits. Each patient met with his or her PCP to discuss the report.Clinical outcomes and health care use through 6 months were obtained from medical records and audio-recorded discussions between PCPs and patients. Patients' health behavior changes were surveyed 6 months after receiving results. A panel of clinician-geneticists rated the appropriateness of how PCPs managed MDR results.Mean age was 55 years; 58% of patients were female. Eleven FH + WGS patients (22% [95% CI, 12% to 36%]) had new MDR results. Only 2 (4% [CI, 0.01% to 15%]) had evidence of the phenotypes predicted by an MDR result (fundus albipunctatus due to RDH5 and variegate porphyria due to PPOX). Primary care physicians recommended new clinical actions for 16% (CI, 8% to 30%) of FH patients and 34% (CI, 22% to 49%) of FH + WGS patients. Thirty percent (CI, 17% to 45%) and 41% (CI, 27% to 56%) of FH and FH + WGS patients, respectively, reported making a health behavior change after 6 months. Geneticists rated PCP management of 8 MDR results (73% [CI, 39% to 99%]) as appropriate and 2 results (18% [CI, 3% to 52%]) as inappropriate.Limited sample size and ancestral and socioeconomic diversity.Adding WGS to primary care reveals new molecular findings of uncertain clinical utility. Nongeneticist providers may be able to manage WGS results appropriately, but WGS may prompt additional clinical actions of unclear value.National Institutes of Health.

Duke Scholars

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Published In

Annals of internal medicine

DOI

EISSN

1539-3704

ISSN

0003-4819

Publication Date

August 2017

Volume

167

Issue

3

Start / End Page

159 / 169

Related Subject Headings

  • Whole Genome Sequencing
  • Risk Assessment
  • Referral and Consultation
  • Primary Health Care
  • Pilot Projects
  • Patient Reported Outcome Measures
  • Patient Acceptance of Health Care
  • Middle Aged
  • Medical History Taking
  • Male
 

Citation

APA
Chicago
ICMJE
MLA
NLM
Vassy, J. L., Christensen, K. D., Schonman, E. F., Blout, C. L., Robinson, J. O., Krier, J. B., … MedSeq Project. (2017). The Impact of Whole-Genome Sequencing on the Primary Care and Outcomes of Healthy Adult Patients: A Pilot Randomized Trial. Annals of Internal Medicine, 167(3), 159–169. https://doi.org/10.7326/m17-0188
Vassy, Jason L., Kurt D. Christensen, Erica F. Schonman, Carrie L. Blout, Jill O. Robinson, Joel B. Krier, Pamela M. Diamond, et al. “The Impact of Whole-Genome Sequencing on the Primary Care and Outcomes of Healthy Adult Patients: A Pilot Randomized Trial.Annals of Internal Medicine 167, no. 3 (August 2017): 159–69. https://doi.org/10.7326/m17-0188.
Vassy JL, Christensen KD, Schonman EF, Blout CL, Robinson JO, Krier JB, et al. The Impact of Whole-Genome Sequencing on the Primary Care and Outcomes of Healthy Adult Patients: A Pilot Randomized Trial. Annals of internal medicine. 2017 Aug;167(3):159–69.
Vassy, Jason L., et al. “The Impact of Whole-Genome Sequencing on the Primary Care and Outcomes of Healthy Adult Patients: A Pilot Randomized Trial.Annals of Internal Medicine, vol. 167, no. 3, Aug. 2017, pp. 159–69. Epmc, doi:10.7326/m17-0188.
Vassy JL, Christensen KD, Schonman EF, Blout CL, Robinson JO, Krier JB, Diamond PM, Lebo M, Machini K, Azzariti DR, Dukhovny D, Bates DW, MacRae CA, Murray MF, Rehm HL, McGuire AL, Green RC, MedSeq Project. The Impact of Whole-Genome Sequencing on the Primary Care and Outcomes of Healthy Adult Patients: A Pilot Randomized Trial. Annals of internal medicine. 2017 Aug;167(3):159–169.

Published In

Annals of internal medicine

DOI

EISSN

1539-3704

ISSN

0003-4819

Publication Date

August 2017

Volume

167

Issue

3

Start / End Page

159 / 169

Related Subject Headings

  • Whole Genome Sequencing
  • Risk Assessment
  • Referral and Consultation
  • Primary Health Care
  • Pilot Projects
  • Patient Reported Outcome Measures
  • Patient Acceptance of Health Care
  • Middle Aged
  • Medical History Taking
  • Male