Table 1.

DNA10K Primary Care Physician-Mediated Genetic Screening Results*

VariableOverall No./Total (%) or Mean ± SD or Median (IQR)FM No./Total (%) or Median (IQR)IM No./Total (%) or Median (IQR)OBGYN No./Total (%) or Median (IQR)P value
Clinical Demographics
    PCPs116287216
    Patients contacted4941310640322206553
    Tests consented14063/49419 (28.5%)3143/10640 (29.5%)8956/32220 (27.8%)1964/6553 (30.0%).13
    Orders placed10933/14063 (77.7%)2416/3143 (76.9%)6920/8956 (77.3%)1597/1964 (81.3%).60
    Test completed9797/10933 (89.6%)2190/2416 (90.6%)6255/6920 (90.4%)1352/1597 (84.7%).24
Patient Demographics
    Age49.6 ± 6.446.5 ± 4.952.3 ± 4.940.5 ± 3.3<.0001,§,,
    Female6464/9797 (66.0%)1270/2190 (58.0%)3844/6255 (61.5%)1350/1352 (99.9%).80**
    African American272/9797 (2.8%)100/2190 (4.6%)108/6255 (1.7%)64/1352 (4.7%).02
    American Indian/Alaskan Native22/9797 (0.22%)6/2190 (0.27%)14/6255 (0.22%)2/1352 (0.15%).86
    Asian679/9797 (6.9%)234/2190 (10.7%)368/6255 (5.8%)77/1352 (5.7%).04
    White6528/9797 (66.6%)1229/2190 (56.1%)4424/6255 (70.7%)875/1352 (64.7%).04§
    Hispanic/Latino461/9797 (4.7%)145/2190 (6.6%)218/6255 (3.5%)98/1352 (7.2%).01§,
    Pacific Islander/Hawaiian Native6/9797 (0.06%)0/2190 (0%)6/6255 (0.1%)0/1352 (0%).20
    Declined/Other1829/9797 (18.7%)476/2190 (21.7%)1117/6255 (17.9%)236/1352 (17.5%).69
Test Results
    Cancer and cardiovascular disease variants††813/9797 (8.3%)177/2190 (8.1%)537/6255 (8.6%)99/1352 (7.3%)
    Tier 1 pathogenic variants (HBOC, Lynch syndrome, and FH)‡‡182/9797 (1.9%)42/2190 (1.9%)114/6255 (1.8%)26/1352 (1.9%)
    HBOC116/9797 (1.2%)27/2190 (1.2%)73/6255 (1.2%)16/1352 (1.2%)
    Lynch Syndrome38/9797 (0.39%)3/2190 (0.14%)28/6255 (0.45%)7/1352 (0.52%)
    FH29/9797 (0.30%)12/2190 (0.55%)13/6255 (0.21%)4/1352 (0.30%)
    Non-Tier 1 pathogenic variants631/9797 (6.4%)135/2190 (6.2%)423/6255 (6.8%)73/1352 (5.4%)
    Pharmacogenomic variants§§9607/9797 (98.1%)2154/2190 (98.4%)6128/6255 (98.0%)1325/1352 (98.0%)
    Actionable pharmacogenomic variants9599/9607 (99.9%)2150/2154 (99.8%)6124/6128 (99.9%)1325/1325 (100%)
Test Results per PCP
    Patients who completed test per PCP68.5 (25.5 to 126)62.5 (33 to 120)66 (22.5 to 138)75 (40 to 118.2)
    Cancer and cardiovascular disease variants per PCP‖‖7.5 (4.9 to 10.2)6.8 (3.7 to 9.1)7.8 (5.6 to 10.8)7.4 (5.5 to 8.8).40
    Tier 1 pathogenic variants per PCP (HBOC, Lynch syndrome, & FH)1.4 (0 to 2.5)1.5 (0 to 2.8)1.4 (0 to 2.5)1.3 (0 to 2.4).97
    HBOC per PCP0.8 (0 to 1.5)0.7 (0 to 1.5)0.7 (0 to 1.5)1.0 (0 to 1.8).95
    Lynch syndrome per PCP0 (0 to 0.4)0 (0)0 (0)0 (0 to 1).12
    FH per PCP0 (0)0 (0)0 (0)0 (0-0.2).08
    Non-Tier 1 pathogenic variants per PCP5.8 (3.5 to 7.5)5.0 (2.1 to 7.0)6.1 (3.8 to 8.6)5.8 (3.7-6.8).28
    Actionable pharmacogenomic variants per PCP††98.3(97.2 to 100)98.6(97.5 to 100)98.2(96.7 to 99.6)97.9(97.3 to 100).39
  • Abbreviations: FH, familial hypercholesterolemia; FM, family medicine; HBOC, hereditary breast and ovarian cancer; IM, internal medicine; IQR, interquartile range; OBGYN, obstetrics/gynecology; PCP, primary care physician; SD, standard deviation.

  • * Results refer to patients who were contacted, agreed to consent to testing or did not agree to testing, and who had orders placed by PCPs before a scheduled annual physical and genetic tests performed and resulted between April 1, 2019, and January 22, 2020.

  • P values are for the Kruskal-Wallis test unless otherwise indicated; P < .05.

  • ANOVA with posthoc Tukey HSD Test.

  • § FM versus IM, P < .05.

  • IM versus OBGYN, P < .05.

  • OBGYN versus FM, P < .05.

  • ** Wilcoxon Rank Sum Test comparing females across FM and IM only.

  • The Color Genomics, Inc. next generation sequencing panel includes the following genes:

  • Cancer risk (30 genes): APC, ATM, BAP1, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A (p14ARF, p16INK4a), CHEK2, EPCAM, GREM1, MITF, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, POLD1, POLE, PTEN, RAD51C, RAD51D, SMAD4, STK11, TP53.

  • Cardiovascular disease risk (30 genes): ACTA2, ACTC1, APOB, COL3A1, DSC2, DSG2, DSP, FBN1, GLA, KCNH2, KCNQ1, LDLR, LMNA, MYBPC3, MYH7, MYH11, MYL2, MYL3, PCSK9, PKP2, PRKAG2, RYR2, SCN5A, SMAD3, TGFBR1, TGFBR2, TMEM43, TNNI3, TNNT2, TPM1.

  • ‡‡ HBOC variants: BRCA1, BRCA2; Lynch syndrome variants: MLH1, MSH2, MSH6, PMS2; FH variants: LDLR, APOB, PCSK9.

  • §§ Pharmacogenomic (14 genes): CYP1A2, CYP2C19, CYP2C9, CYP2D6, CYP3A4, CYP3A5, CYP4F2, DPYD, F5, IFNL3, NUDT15, SLCO1B1, TPMT, VKORC1.