Table 3 Associations between high-risk results, provider recommendations, and patient-reported health behavior changes.

From: Behavioral and psychological impact of genome sequencing: a pilot randomized trial of primary care and cardiology patients

Time point/behavior

Monogenic disease risk (ref: none) OR (95% CI)

p

Cardiometabolic risk prediction (per condition in 80th percentile risk) OR (95% CI)

p

Recommendations

Any change

0.59 (0.15–1.84)

0.391

1.68 (1.07–2.72)

0.027

 Health behavior

0.79 (0.21–2.50)

0.702

1.41 (0.88–2.32)

0.161

 Medication

1.51 (0.19–8.41)

0.652

1.99 (0.94–4.97)

0.097

Changes at 6 weeks

Any change

1.72 (0.62–4.79)

0.292

1.49 (1.00–2.23)

0.049

 Exercise

1.94 (0.66–5.74)

0.228

1.54 (0.99–2.41)

0.057

 Diet

1.60 (0.55–4.67)

0.387

1.27 (0.83–1.96)

0.266

 Supplements

1.73 (0.30–9.92)

0.534

1.25 (0.54–2.86)

0.602

 Medications

0.37 (0.04–3.21)

0.366

1.28 (0.64–2.56)

0.474

 Other

NAa

0.568

0.48 (0.08–2.94)

0.424

Changes at 6 months

Any change

2.11 (0.74–6.03)

0.160

1.52 (1.04–2.24)

0.032

 Exercise

2.39 (0.85–6.72)

0.098

1.59 (1.05–2.40)

0.029

 Diet

1.88 (0.67–5.27)

0.227

1.34 (0.91–1.98)

0.134

 Supplements

0.79 (0.08–7.39)

0.832

1.23 (0.59–2.57)

0.571

 Medications

0.29 (0.03–2.49)

0.258

1.50 (0.83–2.72)

0.175

 Other

2.03 (0.16–25.50)

0.578

1.06 (0.32–3.53)

0.918

  1. High-risk results were defined in two ways: (1) identification of an unexpected monogenic disease risk (analyses exclude two patients who were previously diagnosed with hemochromatosis, who received monogenic disease risk findings on their GS report) and (2) number of polygenic predictions about cardiometabolic traits (range: 0–8) where patients were identified to be in the 80th percentile for genetic risk, per polygenic risk predictions. Means and 95% confidence intervals of odds ratios were estimated using logistic regression or generalized estimating equations using logit linking functions and binomial distributions.
  2. aAn odds ratio could not be estimated, because no participant with an unexpected monogenic disease risk reported a change to this category at 6 weeks post disclosure. The p-value was estimated using a Fisher’s exact test on available data.